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 AARD 0 genome.wustl.edu 37 8 117950599 117950599 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 117950599 117950599 C T SNP AARD ENST00000378279 human ensembl 74_37 +1 known silent c.117 p.D39 0.000 NULL NULL - no_errors AARD HGNC ENSG00000205002 tier1 rs142961465 - 47 0 0.00 53 10 15.87 ABCA2 0 genome.wustl.edu 37 9 139908407 139908407 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 139908407 139908407 C T SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.4324 p.G1442R 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 tier1 - - 41 0 0.00 39 12 23.08 ABCA2 0 genome.wustl.edu 37 9 139911757 139911757 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 139911757 139911757 G A SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.2444 p.S815L 0.998 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 tier1 - - 77 0 0.00 64 24 27.27 ABCA4 0 genome.wustl.edu 37 1 94485137 94485137 + Splice_Site SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 94485137 94485137 C T SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known splice_site c.5196+1 e36+1 1.000 - - - no_errors ABCA4 HGNC ENSG00000198691 tier1 rs61751377 - 18 0 0.00 11 5 31.25 ABCA4 0 genome.wustl.edu 37 1 94543323 94543323 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 94543323 94543323 C T SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known missense c.1477 p.D493N 0.011 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 tier1 - - 137 0 0.00 176 43 19.63 ABCB1 0 genome.wustl.edu 37 7 87179241 87179241 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 87179241 87179241 T C SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.1480 p.N494D 0.158 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 tier1 - - 195 0 0.00 197 68 25.66 ABCB10 0 genome.wustl.edu 37 1 229678079 229678079 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 229678079 229678079 C T SNP ABCB10 ENST00000344517 human ensembl 74_37 -1 known missense c.961 p.V321M 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB10 HGNC ENSG00000135776 tier1 - - 40 0 0.00 29 5 14.71 ABCB11 0 genome.wustl.edu 37 2 169842772 169842772 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 169842772 169842772 C T SNP ABCB11 ENST00000263817 human ensembl 74_37 -1 known missense c.931 p.A311T 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB11 HGNC ENSG00000073734 tier1 - - 100 0 0.00 132 31 19.02 ABCB8 0 genome.wustl.edu 37 7 150730959 150730959 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 150730959 150730959 G A SNP ABCB8 ENST00000297504 human ensembl 74_37 +1 known nonsense c.414 p.W138* 1.000 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB8 HGNC ENSG00000197150 tier1 - - 82 0 0.00 53 13 19.70 ABCC10 0 genome.wustl.edu 37 6 43413620 43413620 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 43413620 43413620 G A SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known missense c.3314 p.S1105N 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 tier1 - - 90 0 0.00 67 23 25.56 ABCC6 0 genome.wustl.edu 37 16 16297397 16297397 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 16297397 16297397 G A SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known missense c.868 p.R290W 0.484 superfamily_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 tier1 rs200330935 - 58 0 0.00 52 16 23.53 ABCC9 0 genome.wustl.edu 37 12 21997480 21997480 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 21997480 21997480 A - DEL ABCC9 ENST00000261200 human ensembl 74_37 -1 known frame_shift_del c.3252 p.F1084fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 tier1 100 0 0.00 131 22 14.38 ABCD3 0 genome.wustl.edu 37 1 94982785 94982785 + RNA DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 94982785 94982785 A - DEL ABCD3 ENST00000464165 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ABCD3 HGNC ENSG00000117528 tier1 9 0 0.00 15 4 21.05 ABHD8 0 genome.wustl.edu 37 19 17411760 17411760 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 17411760 17411760 G A SNP ABHD8 ENST00000247706 human ensembl 74_37 -1 known silent c.666 p.A222 0.897 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ENSG00000127220 tier1 - - 179 0 0.00 148 58 28.16 ABI3BP 0 genome.wustl.edu 37 3 100469455 100469455 + Splice_Site SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 100469455 100469455 C T SNP ABI3BP ENST00000284322 human ensembl 74_37 -1 known splice_site c.3113-1 e35-1 1.000 - - - no_errors ABI3BP HGNC ENSG00000154175 tier1 - - 57 0 0.00 73 19 20.65 ABL1 0 genome.wustl.edu 37 9 133760264 133760264 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 133760264 133760264 G - DEL ABL1 ENST00000372348 human ensembl 74_37 +1 known frame_shift_del c.2644 p.G883fs 0.153 NULL pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 tier1 33 0 0.00 37 3 7.50 ABLIM1 0 genome.wustl.edu 37 10 116247768 116247768 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 116247768 116247768 G A SNP ABLIM1 ENST00000277895 human ensembl 74_37 -1 known silent c.990 p.T330 0.993 smart_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 tier1 - - 177 0 0.00 200 38 15.83 ABTB2 0 genome.wustl.edu 37 11 34192577 34192577 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 34192577 34192577 C T SNP ABTB2 ENST00000435224 human ensembl 74_37 -1 known missense c.1439 p.R480Q 1.000 NULL pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 tier1 - - 80 0 0.00 67 14 17.28 ACACA 0 genome.wustl.edu 37 17 35536292 35536292 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 35536292 35536292 G 0 DEL ACACA ENST00000353139 human ensembl 74_37 -1 known frame_shift_del c.4988 p.P1663fs 1.000 NULL 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 63 0 0.00 72 10 12.20 ACAD8 0 genome.wustl.edu 37 11 134131676 134131676 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 134131676 134131676 C T SNP ACAD8 ENST00000281182 human ensembl 74_37 +1 known silent c.984 p.A328 0.960 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACAD8 HGNC ENSG00000151498 tier1 - - 50 0 0.00 50 8 13.79 ACIN1 0 genome.wustl.edu 37 14 23528449 23528449 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 23528449 23528449 G A SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known nonsense c.3934 p.R1312* 0.995 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 tier1 - - 181 0 0.00 145 53 26.63 ACO1 0 genome.wustl.edu 37 9 32427423 32427423 + Silent SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 32427423 32427423 G T SNP ACO1 ENST00000309951 human ensembl 74_37 +1 known silent c.1473 p.L491 0.975 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors ACO1 HGNC ENSG00000122729 tier1 - - 126 0 0.00 102 41 28.67 ACP1 0 genome.wustl.edu 37 2 272080 272081 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 272080 272081 - C INS ACP1 ENST00000272065 human ensembl 74_37 +1 known frame_shift_ins c.161_162 p.D57fs 1.000:1.000 pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_phospatase/Ars_reductase pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase - no_errors ACP1 HGNC ENSG00000143727 tier1 103 0 0.00 124 39 23.93 ACRC 0 genome.wustl.edu 37 X 70814183 70814183 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 70814183 70814183 G A SNP ACRC ENST00000373695 human ensembl 74_37 +1 known missense c.143 p.C48Y 0.000 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 tier1 rs148480806 - 42 0 0.00 62 9 12.68 ACTG2 0 genome.wustl.edu 37 2 74140744 74140745 + Frame_Shift_Ins INS - - AG TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 74140744 74140745 - AG INS ACTG2 ENST00000345517 human ensembl 74_37 +1 known frame_shift_ins c.584_585 p.G198fs 1.000:0.999 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTG2 HGNC ENSG00000163017 tier1 93 0 0.00 99 22 18.18 ACTN4 0 genome.wustl.edu 37 19 39214320 39214320 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 39214320 39214320 C T SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known silent c.1509 p.D503 0.062 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 tier1 - - 34 0 0.00 20 8 28.57 ACVR2A 0 genome.wustl.edu 37 2 148654069 148654069 + Nonsense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 148654069 148654069 C A SNP ACVR2A ENST00000241416 human ensembl 74_37 +1 known nonsense c.255 p.C85* 1.000 pfam_Activin_rcpt,prints_TGFB_receptor pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 tier1 - - 62 0 0.00 78 25 24.27 ADAM2 0 genome.wustl.edu 37 8 39613417 39613417 + Nonsense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 39613417 39613417 C A SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known nonsense c.1627 p.G543* 1.000 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 tier1 - - 47 0 0.00 91 12 11.65 ADAM28 0 genome.wustl.edu 37 8 24211298 24211298 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 24211298 24211298 G A SNP ADAM28 ENST00000265769 human ensembl 74_37 +1 known missense c.2260 p.A754T 0.004 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 tier1 - - 138 0 0.00 253 35 12.15 ADAM8 0 genome.wustl.edu 37 10 135086017 135086017 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 135086017 135086017 C T SNP ADAM8 ENST00000445355 human ensembl 74_37 -1 known missense c.778 p.V260I 0.213 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM8 HGNC ENSG00000151651 tier1 - - 92 0 0.00 86 21 19.63 ADAMTS14 0 genome.wustl.edu 37 10 72517730 72517730 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 72517730 72517730 T G SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known missense c.2959 p.C987G 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 tier1 - - 112 0 0.00 102 22 17.74 ADAMTSL1 0 genome.wustl.edu 37 9 18574056 18574056 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 18574056 18574056 G A SNP ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known missense c.266 p.R89Q 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 tier1 - - 90 0 0.00 102 39 27.66 ADAMTSL3 0 genome.wustl.edu 37 15 84506869 84506869 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 84506869 84506869 G T SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.629 p.S210I 0.999 prints_Peptidase_M12B_ADAM-TS pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 tier1 - - 63 0 0.00 82 16 16.33 ADAP2 0 genome.wustl.edu 37 17 29261279 29261279 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 29261279 29261279 A G SNP ADAP2 ENST00000330889 human ensembl 74_37 +1 known silent c.474 p.A158 0.931 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,prints_ArfGAP,pfscan_Pleckstrin_homology,pfscan_ArfGAP - no_errors ADAP2 HGNC ENSG00000184060 tier1 - - 51 0 0.00 48 8 14.29 ADCY10 0 genome.wustl.edu 37 1 167815237 167815237 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 167815237 167815237 G A SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known missense c.2702 p.P901L 0.001 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 tier1 - - 57 0 0.00 96 27 21.95 ADCY3 0 genome.wustl.edu 37 2 25062881 25062881 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 25062881 25062881 T C SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known missense c.1216 p.K406E 0.144 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 tier1 - - 125 0 0.00 110 30 21.43 ADCY7 0 genome.wustl.edu 37 16 50324513 50324513 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 50324513 50324513 C T SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.317 p.A106V 0.109 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 tier1 - - 79 0 0.00 101 19 15.83 ADCY8 0 genome.wustl.edu 37 8 131848544 131848544 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 131848544 131848544 T C SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.2654 p.D885G 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 77 0 0.00 153 23 13.07 ADCY8 0 genome.wustl.edu 37 8 131916046 131916046 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 131916046 131916046 G T SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.1883 p.P628H 1.000 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 61 0 0.00 105 22 17.32 ADD3 0 genome.wustl.edu 37 10 111886200 111886200 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 111886200 111886200 T C SNP ADD3 ENST00000356080 human ensembl 74_37 +1 known missense c.1547 p.L516S 0.990 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 tier1 - - 46 0 0.00 59 15 20.27 ADRA2A 0 genome.wustl.edu 37 10 112839042 112839042 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 112839042 112839042 G A SNP ADRA2A ENST00000280155 human ensembl 74_37 +1 known missense c.1288 p.G430S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_Musac_Ach_rcpt - no_errors ADRA2A HGNC ENSG00000150594 tier1 - - 166 0 0.00 175 36 17.06 ADTRP 0 genome.wustl.edu 37 6 11714640 11714643 + RNA DEL AAAA AAAA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 11714640 11714643 AAAA - DEL ADTRP ENST00000512139 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.001:0.000 - - - no_errors ADTRP HGNC ENSG00000111863 tier1 24 0 0.00 19 9 32.14 AFF4 0 genome.wustl.edu 37 5 132227943 132227943 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 132227943 132227943 C T SNP AFF4 ENST00000265343 human ensembl 74_37 -1 known silent c.2550 p.E850 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 tier1 - - 152 0 0.00 132 43 24.57 AFM 0 genome.wustl.edu 37 4 74354476 74354476 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 74354476 74354476 G A SNP AFM ENST00000226355 human ensembl 74_37 +1 known silent c.843 p.T281 0.830 pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB,prints_Alpha-fetoprotein - no_errors AFM HGNC ENSG00000079557 tier1 - - 77 0 0.00 99 32 24.43 AGAP2 0 genome.wustl.edu 37 12 58125624 58125624 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 58125624 58125624 G A SNP AGAP2 ENST00000547588 human ensembl 74_37 -1 known missense c.1921 p.R641W 0.999 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP2 HGNC ENSG00000135439 19 0 0.00 14 2 12.50 AGAP3 0 genome.wustl.edu 37 7 150814457 150814457 + Splice_Site DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 150814457 150814457 G - DEL AGAP3 ENST00000397238 human ensembl 74_37 +1 known splice_site_del c.479-1 e4-1 1.000 - - - no_errors AGAP3 HGNC ENSG00000133612 tier1 233 0 0.00 190 37 16.30 AGBL1 0 genome.wustl.edu 37 15 86807693 86807693 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 86807693 86807693 A - DEL AGBL1 ENST00000441037 human ensembl 74_37 +1 known frame_shift_del c.1153 p.N387fs 0.000 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 tier1 48 0 0.00 54 10 15.62 AGO4 0 genome.wustl.edu 37 1 36319142 36319142 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 36319142 36319142 C T SNP AGO4 ENST00000373210 human ensembl 74_37 +1 known missense c.2522 p.P841L 1.000 NULL 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 - - 72 0 0.00 77 15 16.30 AGPAT5 0 genome.wustl.edu 37 8 6614777 6614778 + Frame_Shift_Del DEL TT TT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 6614777 6614778 TT - DEL AGPAT5 ENST00000285518 human ensembl 74_37 +1 known frame_shift_del c.963_964 p.L322fs 0.944:0.959 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT5 HGNC ENSG00000155189 tier1 56 0 0.00 101 15 12.93 AGPAT9 0 genome.wustl.edu 37 4 84519776 84519777 + RNA DEL TT TT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 84519776 84519777 TT - DEL AGPAT9 ENST00000509044 human ensembl 74_37 +1 putative rna NULL NULL 0.004:0.001 - - - no_errors AGPAT9 HGNC ENSG00000138678 tier1 68 0 0.00 90 13 12.62 AGXT 0 genome.wustl.edu 37 2 241808308 241808308 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 241808308 241808308 C - DEL AGXT ENST00000307503 human ensembl 74_37 +1 known frame_shift_del c.26 p.K12fs 0.001 superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT HGNC ENSG00000172482 tier1 39 0 0.00 32 5 13.51 AHI1 0 genome.wustl.edu 37 6 135644405 135644405 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 135644405 135644405 C T SNP AHI1 ENST00000265602 human ensembl 74_37 -1 known missense c.3223 p.G1075R 0.986 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 tier1 - - 28 0 0.00 31 7 18.42 AHNAK 0 genome.wustl.edu 37 11 62298376 62298376 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 62298376 62298376 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.3513 p.L1171 0.154 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 rs200358600 - 245 0 0.00 232 58 20.00 AHNAK 0 genome.wustl.edu 37 11 62298897 62298897 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 62298897 62298897 T C SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.2992 p.M998V 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 202 0 0.00 186 40 17.70 AHRR 0 genome.wustl.edu 37 5 353858 353858 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 353858 353858 G T SNP AHRR ENST00000316418 human ensembl 74_37 +1 known missense c.88 p.G30W 0.559 pfscan_bHLH_dom pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors AHRR HGNC ENSG00000063438 tier1 - - 47 0 0.00 60 9 12.86 AHRR 0 genome.wustl.edu 37 5 427974 427974 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 427974 427974 C T SNP AHRR ENST00000316418 human ensembl 74_37 +1 known missense c.827 p.A276V 0.978 NULL pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors AHRR HGNC ENSG00000063438 tier1 - - 52 0 0.00 51 17 25.00 AHRR 0 genome.wustl.edu 37 5 432970 432970 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 432970 432970 C T SNP AHRR ENST00000316418 human ensembl 74_37 +1 known silent c.1086 p.D362 0.000 NULL pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors AHRR HGNC ENSG00000063438 tier1 rs201184789 - 65 0 0.00 57 12 17.39 AHSA2 0 genome.wustl.edu 37 2 61413633 61413633 + Splice_Site SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 61413633 61413633 G A SNP AHSA2 ENST00000357022 human ensembl 74_37 +1 known splice_site c.244+1 e3+1 1.000 - - - no_errors AHSA2 HGNC ENSG00000173209 tier1 - - 58 0 0.00 55 10 15.38 AIRE 0 genome.wustl.edu 37 21 45710773 45710773 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 45710773 45710773 G - DEL AIRE ENST00000355347 human ensembl 74_37 +1 known frame_shift_del c.84 p.G30fs 0.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors AIRE HGNC ENSG00000160224 tier1 191 0 0.00 165 39 19.12 AKAP6 0 genome.wustl.edu 37 14 33291535 33291535 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 33291535 33291535 A - DEL AKAP6 ENST00000280979 human ensembl 74_37 +1 known frame_shift_del c.4516 p.K1507fs 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 tier1 73 0 0.00 66 16 19.51 AKNAD1 0 genome.wustl.edu 37 1 109366085 109366085 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 109366085 109366085 A G SNP AKNAD1 ENST00000370001 human ensembl 74_37 -1 known missense c.2074 p.Y692H 0.355 NULL pfam_TF_AT-hook - no_errors AKNAD1 HGNC ENSG00000162641 tier1 - - 91 0 0.00 69 28 28.87 ALDH1A3 0 genome.wustl.edu 37 15 101438350 101438350 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 101438350 101438350 G 0 DEL ALDH1A3 ENST00000329841 human ensembl 74_37 +1 known frame_shift_del c.843 p.K284fs 0.008 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 62 0 0.00 80 7 8.05 ALG2 0 genome.wustl.edu 37 9 101980915 101980915 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 101980915 101980915 A - DEL ALG2 ENST00000476832 human ensembl 74_37 -1 known frame_shift_del c.552 p.F184fs 1.000 NULL pfam_Glyco_trans_1 - no_errors ALG2 HGNC ENSG00000119523 tier1 80 0 0.00 73 19 20.65 ALS2CL 0 genome.wustl.edu 37 3 46722730 46722730 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 46722730 46722730 G A SNP ALS2CL ENST00000431015 human ensembl 74_37 -1 known missense c.1417 p.R473C 0.009 NULL pfam_MORN,superfamily_DH-domain,smart_MORN - no_errors ALS2CL HGNC ENSG00000178038 tier1 - - 307 0 0.00 349 20 5.42 ALX3 0 genome.wustl.edu 37 1 110613030 110613030 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 110613030 110613030 C T SNP ALX3 ENST00000369792 human ensembl 74_37 -1 known missense c.205 p.A69T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ALX3 HGNC ENSG00000156150 tier1 - - 19 0 0.00 17 7 29.17 AMER3 0 genome.wustl.edu 37 2 131520179 131520179 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 131520179 131520179 G A SNP AMER3 ENST00000321420 human ensembl 74_37 +1 known silent c.534 p.A178 0.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 tier1 - - 133 0 0.00 105 19 15.32 AMH 0 genome.wustl.edu 37 19 2249662 2249662 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 2249662 2249662 G A SNP AMH ENST00000221496 human ensembl 74_37 +1 known missense c.331 p.A111T 0.000 pfam_AMH_N,pirsf_Muellerian-inhibiting_factor pfam_AMH_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_Muellerian-inhibiting_factor - no_errors AMH HGNC ENSG00000104899 20 0 0.00 19 2 9.52 AMOTL1 0 genome.wustl.edu 37 11 94554825 94554825 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 94554825 94554825 T C SNP AMOTL1 ENST00000433060 human ensembl 74_37 +1 known silent c.1251 p.A417 0.166 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 tier1 - - 41 0 0.00 35 10 22.22 AMOTL2 0 genome.wustl.edu 37 3 134077461 134077462 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 134077461 134077462 - G INS AMOTL2 ENST00000249883 human ensembl 74_37 -1 known frame_shift_ins c.2205_2204 p.D736fs 0.000:0.001 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 tier1 81 0 0.00 55 13 19.12 ANGPTL7 0 genome.wustl.edu 37 1 11254542 11254542 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 11254542 11254542 G A SNP ANGPTL7 ENST00000376819 human ensembl 74_37 +1 known missense c.697 p.A233T 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL7 HGNC ENSG00000171819 tier1 - - 147 0 0.00 164 43 20.77 ANK1 0 genome.wustl.edu 37 8 41561977 41561977 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 41561977 41561977 G T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.2111 p.P704H 0.999 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 - - 51 0 0.00 88 7 7.37 ANK1 0 genome.wustl.edu 37 8 41571752 41571752 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 41571752 41571752 G A SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known silent c.1722 p.H574 0.987 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 - - 44 0 0.00 57 16 21.92 ANK1 0 genome.wustl.edu 37 8 41583322 41583322 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 41583322 41583322 G A SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.569 p.A190V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 - - 31 0 0.00 55 8 12.70 ANK3 0 genome.wustl.edu 37 10 61835192 61835192 + Missense_Mutation SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 61835192 61835192 G C SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.5447 p.T1816S 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 182 0 0.00 202 53 20.78 ANKFN1 0 genome.wustl.edu 37 17 54428180 54428181 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 54428180 54428181 - A INS ANKFN1 ENST00000318698 human ensembl 74_37 +1 known frame_shift_ins c.251_252 p.H87fs 0.987:0.976 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 tier1 89 0 0.00 131 22 14.38 ANKRD13B 0 genome.wustl.edu 37 17 27938644 27938644 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 27938644 27938644 G - DEL ANKRD13B ENST00000394859 human ensembl 74_37 +1 known frame_shift_del c.952 p.G319fs 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13B HGNC ENSG00000198720 tier1 101 0 0.00 88 13 12.87 ANKRD17 0 genome.wustl.edu 37 4 73963938 73963938 + Missense_Mutation SNP C C G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 73963938 73963938 C G SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.4873 p.E1625Q 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 ANKRD17 HGNC ENSG00000132466 tier1 - - 208 0 0.00 158 51 24.29 ANKRD28 0 genome.wustl.edu 37 3 15756165 15756166 + Splice_Site INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 15756165 15756166 - G INS ANKRD28 ENST00000383777 human ensembl 74_37 -1 known splice_site_ins c.1006-3_1006-2 e9-2 1.000:0.998 - - - no_errors ANKRD28 HGNC ENSG00000206560 tier1 28 0 0.00 29 14 32.56 ANO10 0 genome.wustl.edu 37 3 43618452 43618452 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 43618452 43618452 A G SNP ANO10 ENST00000292246 human ensembl 74_37 -1 known silent c.894 p.T298 0.001 pfam_Anoctamin pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 tier1 - - 99 0 0.00 96 28 22.58 ANO6 0 genome.wustl.edu 37 12 45810550 45810550 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 45810550 45810550 A G SNP ANO6 ENST00000425752 human ensembl 74_37 +1 known missense c.2080 p.N694D 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 tier1 - - 39 0 0.00 46 8 14.81 ANO8 0 genome.wustl.edu 37 19 17441961 17441961 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 17441961 17441961 G A SNP ANO8 ENST00000159087 human ensembl 74_37 -1 known missense c.767 p.T256M 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 tier1 - - 89 0 0.00 72 9 10.98 ANP32AP1 0 genome.wustl.edu 37 15 35529757 35529757 + RNA DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 35529757 35529757 G - DEL ANP32AP1 ENST00000560832 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors ANP32AP1 HGNC ENSG00000259516 tier1 86 0 0.00 67 16 19.28 ANTXR2 0 genome.wustl.edu 37 4 80905985 80905986 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 80905985 80905986 - G INS ANTXR2 ENST00000307333 human ensembl 74_37 -1 known frame_shift_ins c.1074_1073 p.A359fs 0.994:0.992 pirsf_Anthrax_toxin_rcpt pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR2 HGNC ENSG00000163297 tier1 21 0 0.00 27 4 12.90 AOX1 0 genome.wustl.edu 37 2 201515800 201515800 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 201515800 201515800 C T SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known missense c.2951 p.S984F 1.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 tier1 - - 99 0 0.00 114 39 25.32 AP2A1 0 genome.wustl.edu 37 19 50308757 50308757 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 50308757 50308757 G A SNP AP2A1 ENST00000354293 human ensembl 74_37 +1 known missense c.2392 p.A798T 1.000 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 tier1 - - 11 0 0.00 6 7 53.85 AP2M1 0 genome.wustl.edu 37 3 183900575 183900575 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 183900575 183900575 G A SNP AP2M1 ENST00000292807 human ensembl 74_37 +1 known silent c.1092 p.S364 0.039 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP2M1 HGNC ENSG00000161203 tier1 - - 29 0 0.00 42 8 16.00 AP3B1 0 genome.wustl.edu 37 5 77334907 77334907 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 77334907 77334907 T - DEL AP3B1 ENST00000255194 human ensembl 74_37 -1 known frame_shift_del c.2769 p.K923fs 0.419 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 tier1 30 0 0.00 40 11 21.57 AP3M2 0 genome.wustl.edu 37 8 42012435 42012438 + Frame_Shift_Del DEL TGTT TGTT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TGTT TGTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 42012435 42012438 TGTT - DEL AP3M2 ENST00000174653 human ensembl 74_37 +1 known frame_shift_del c.230_233 p.F78fs 1.000:0.861:1.000:1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP3M2 HGNC ENSG00000070718 tier1 114 0 0.00 164 19 10.38 AP5B1 0 genome.wustl.edu 37 11 65546370 65546370 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 65546370 65546370 C A SNP AP5B1 ENST00000532090 human ensembl 74_37 -1 novel missense c.1594 p.G532C 0.005 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 tier1 - - 34 0 0.00 37 8 17.78 AP5Z1 0 genome.wustl.edu 37 7 4830368 4830368 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 4830368 4830368 A G SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known missense c.2003 p.N668S 0.998 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 tier1 - - 28 0 0.00 23 10 30.30 APIP 0 genome.wustl.edu 37 11 34916648 34916648 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 34916648 34916648 G A SNP APIP ENST00000278359 human ensembl 74_37 -1 known missense c.118 p.H40Y 1.000 superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N,tigrfam_MethylthioRu-1-P_deHdtase_MtnB - no_errors APIP HGNC ENSG00000149089 tier1 - - 73 0 0.00 118 10 7.81 APOC1 0 genome.wustl.edu 37 19 45419666 45419666 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 45419666 45419666 A - DEL APOC1 ENST00000592885 human ensembl 74_37 +1 novel frame_shift_del c.278 p.T96fs 0.005 NULL pfam_ApoC-I - no_errors APOC1 HGNC ENSG00000130208 tier1 18 0 0.00 20 6 23.08 APOL3 0 genome.wustl.edu 37 22 36545175 36545176 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 36545175 36545176 - T INS APOL3 ENST00000397289 human ensembl 74_37 -1 known frame_shift_ins c.239_238 p.T80fs 0.000:0.001 NULL NULL - no_errors APOL3 HGNC ENSG00000128284 tier1 38 0 0.00 31 8 20.51 AQPEP 0 genome.wustl.edu 37 5 115327828 115327828 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 115327828 115327828 G T SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known missense c.1114 p.A372S 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 tier1 - - 57 0 0.00 64 15 18.99 AR 0 genome.wustl.edu 37 X 66931469 66931469 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 66931469 66931469 G A SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.2111 p.S704N 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 tier1 - - 35 0 0.00 34 11 24.44 ARAF 0 genome.wustl.edu 37 X 47426415 47426415 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 47426415 47426415 C - DEL ARAF ENST00000377045 human ensembl 74_37 +1 known frame_shift_del c.758 p.R255fs 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors ARAF HGNC ENSG00000078061 tier1 43 0 0.00 40 9 18.37 ARAP3 0 genome.wustl.edu 37 5 141051462 141051462 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 141051462 141051462 C A SNP ARAP3 ENST00000239440 human ensembl 74_37 -1 known missense c.1671 p.Q557H 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 tier1 - - 171 0 0.00 149 35 19.02 ARFGAP1 0 genome.wustl.edu 37 20 61907912 61907912 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 61907912 61907912 G A SNP ARFGAP1 ENST00000353546 human ensembl 74_37 +1 known missense c.251 p.R84Q 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP1 HGNC ENSG00000101199 tier1 - - 90 0 0.00 67 9 11.84 ARFGEF1 0 genome.wustl.edu 37 8 68179369 68179369 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 68179369 68179369 G A SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.1769 p.A590V 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 tier1 - - 54 0 0.00 119 20 14.39 ARFGEF2 0 genome.wustl.edu 37 20 47611046 47611046 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 47611046 47611046 C T SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.3032 p.T1011M 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 tier1 rs138319848 - 49 0 0.00 46 11 19.30 ARFRP1 0 genome.wustl.edu 37 20 62331784 62331784 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 62331784 62331784 C T SNP ARFRP1 ENST00000485858 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ARFRP1 HGNC ENSG00000101246 tier1 - - 71 0 0.00 69 21 23.33 ARHGAP1 0 genome.wustl.edu 37 11 46709742 46709742 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 46709742 46709742 C T SNP ARHGAP1 ENST00000311956 human ensembl 74_37 -1 known missense c.298 p.D100N 1.000 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP1 HGNC ENSG00000175220 tier1 - - 30 0 0.00 25 5 16.67 ARHGAP17 0 genome.wustl.edu 37 16 24942602 24942602 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 24942602 24942602 C T SNP ARHGAP17 ENST00000289968 human ensembl 74_37 -1 known missense c.2018 p.R673Q 0.929 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 tier1 - - 205 0 0.00 151 51 25.25 ARHGAP29 0 genome.wustl.edu 37 1 94643144 94643144 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 94643144 94643144 T - DEL ARHGAP29 ENST00000482481 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARHGAP29 HGNC ENSG00000137962 tier1 28 0 0.00 29 10 25.64 ARHGAP29 0 genome.wustl.edu 37 1 94668128 94668128 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 94668128 94668128 C T SNP ARHGAP29 ENST00000260526 human ensembl 74_37 -1 known missense c.1115 p.R372Q 1.000 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 tier1 - - 123 0 0.00 136 32 19.05 ARHGAP30 0 genome.wustl.edu 37 1 161017600 161017601 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 161017600 161017601 - G INS ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known frame_shift_ins c.3211_3210 p.R1070fs 0.877:0.882 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 tier1 135 0 0.00 133 21 13.64 ARHGAP32 0 genome.wustl.edu 37 11 128840296 128840296 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 128840296 128840296 C T SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known silent c.4770 p.P1590 0.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 tier1 - - 75 0 0.00 81 18 18.18 ARHGAP6 0 genome.wustl.edu 37 X 11157229 11157229 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 11157229 11157229 C T SNP ARHGAP6 ENST00000337414 human ensembl 74_37 -1 known silent c.2679 p.A893 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 tier1 - - 26 0 0.00 28 12 30.00 ARHGEF11 0 genome.wustl.edu 37 1 156939121 156939121 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 156939121 156939121 C - DEL ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known frame_shift_del c.778 p.D260fs 1.000 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 tier1 12 0 0.00 9 4 30.77 ARHGEF25 0 genome.wustl.edu 37 12 58005682 58005682 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 58005682 58005682 G - DEL ARHGEF25 ENST00000286494 human ensembl 74_37 +1 known frame_shift_del c.5 p.H5fs 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 tier1 27 0 0.00 33 6 15.38 ARHGEF4 0 genome.wustl.edu 37 2 131797695 131797695 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 131797695 131797695 G A SNP ARHGEF4 ENST00000326016 human ensembl 74_37 +1 known missense c.854 p.R285Q 1.000 superfamily_DH-domain,superfamily_SH3_domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF4 HGNC ENSG00000136002 tier1 - - 35 0 0.00 32 12 27.27 ARID1A 0 genome.wustl.edu 37 1 27088787 27088788 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 27088787 27088788 - G INS ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_ins c.2396_2397 p.Q802fs 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 72 0 0.00 90 21 18.92 ARID1A 0 genome.wustl.edu 37 1 27107183 27107183 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 27107183 27107183 C A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.6794 p.P2265Q 0.999 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 - - 133 0 0.00 96 26 21.31 ARL13B 0 genome.wustl.edu 37 3 93754287 93754288 + Splice_Site DEL TT TT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 93754287 93754288 TT - DEL ARL13B ENST00000539730 human ensembl 74_37 +1 known splice_site_del c.1+2_3 e0+2 0.000:0.000 - - - no_errors ARL13B HGNC ENSG00000169379 tier1 52 0 0.00 62 8 11.43 ARL4C 0 genome.wustl.edu 37 2 235404738 235404738 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 235404738 235404738 C A SNP ARL4C ENST00000339728 human ensembl 74_37 -1 known missense c.493 p.G165C 1.000 pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL4C HGNC ENSG00000188042 tier1 - - 52 0 0.00 37 19 33.93 ARL4C 0 genome.wustl.edu 37 2 235404747 235404747 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 235404747 235404747 C T SNP ARL4C ENST00000339728 human ensembl 74_37 -1 known missense c.484 p.A162T 1.000 pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL4C HGNC ENSG00000188042 tier1 - - 54 0 0.00 44 7 13.73 ARL6IP4 0 genome.wustl.edu 37 12 123466540 123466540 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 123466540 123466540 T C SNP ARL6IP4 ENST00000315580 human ensembl 74_37 +1 known missense c.875 p.M292T 1.000 pfam_Nucl_RNA-splicing_assoc_SR-25 pfam_Nucl_RNA-splicing_assoc_SR-25 - no_errors ARL6IP4 HGNC ENSG00000182196 tier1 - - 68 0 0.00 51 16 23.88 ARMC12 0 genome.wustl.edu 37 6 35716490 35716490 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 35716490 35716490 G A SNP ARMC12 ENST00000288065 human ensembl 74_37 +1 known missense c.947 p.R316Q 0.992 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC12 HGNC ENSG00000157343 tier1 - - 104 0 0.00 112 39 25.83 ARMC4 0 genome.wustl.edu 37 10 28233216 28233216 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 28233216 28233216 C T SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known missense c.1678 p.A560T 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 tier1 - - 41 0 0.00 51 10 16.39 ARMCX2 0 genome.wustl.edu 37 X 100911496 100911496 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 100911496 100911496 C A SNP ARMCX2 ENST00000328766 human ensembl 74_37 -1 known missense c.1079 p.R360L 0.546 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ENSG00000184867 tier1 - - 75 0 0.00 89 27 23.28 ARNT2 0 genome.wustl.edu 37 15 80873656 80873656 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 80873656 80873656 C T SNP ARNT2 ENST00000303329 human ensembl 74_37 +1 known missense c.1829 p.P610L 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 tier1 - - 70 0 0.00 72 20 21.74 ARR3 0 genome.wustl.edu 37 X 69500125 69500125 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 69500125 69500125 G A SNP ARR3 ENST00000307959 human ensembl 74_37 +1 known missense c.986 p.G329D 1.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARR3 HGNC ENSG00000120500 tier1 - - 112 0 0.00 113 34 23.13 ARSJ 0 genome.wustl.edu 37 4 114824638 114824639 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 114824638 114824639 - A INS ARSJ ENST00000315366 human ensembl 74_37 -1 known frame_shift_ins c.592_591 p.G197fs 1.000:1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 tier1 141 0 0.00 145 31 17.61 ARV1 0 genome.wustl.edu 37 1 231114993 231114994 + Frame_Shift_Del DEL TA TA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 231114993 231114994 TA - DEL ARV1 ENST00000310256 human ensembl 74_37 +1 known frame_shift_del c.142_143 p.Y48fs 1.000:1.000 pfam_Arv1 pfam_Arv1 - no_errors ARV1 HGNC ENSG00000173409 tier1 63 0 0.00 77 10 11.49 ASAH2 0 genome.wustl.edu 37 10 52005193 52005194 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 52005193 52005194 - A INS ASAH2 ENST00000395526 human ensembl 74_37 -1 known frame_shift_ins c.149_148 p.S50fs 0.000:0.000 NULL pfam_Ceramidase_alk - no_errors ASAH2 HGNC ENSG00000188611 tier1 31 0 0.00 38 9 19.15 ASAP1 0 genome.wustl.edu 37 8 131124415 131124415 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 131124415 131124415 C T SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.2326 p.V776I 0.058 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 tier1 - - 102 0 0.00 165 26 13.61 ASCC3 0 genome.wustl.edu 37 6 101127558 101127558 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 101127558 101127558 T - DEL ASCC3 ENST00000369162 human ensembl 74_37 -1 known frame_shift_del c.2222 p.N741fs 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 tier1 58 0 0.00 41 11 21.15 ASH1L 0 genome.wustl.edu 37 1 155450418 155450418 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 155450418 155450418 C T SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.2243 p.S748N 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 tier1 - - 110 0 0.00 118 30 20.27 ASH1L 0 genome.wustl.edu 37 1 155451725 155451725 + Silent SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 155451725 155451725 A C SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known silent c.936 p.T312 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 tier1 - - 114 0 0.00 118 42 26.25 ASPH 0 genome.wustl.edu 37 8 62430100 62430100 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 62430100 62430100 C T SNP ASPH ENST00000379454 human ensembl 74_37 -1 known missense c.2113 p.A705T 1.000 pfam_Asp_Arg_b-Hydrxlase pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 tier1 - - 84 0 0.00 132 15 10.20 ASTE1 0 genome.wustl.edu 37 3 130733047 130733049 + In_Frame_Del DEL TTT TTT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 130733047 130733049 TTT - DEL ASTE1 ENST00000264992 human ensembl 74_37 -1 known in_frame_del c.1894_1892 p.K631in_frame_del 0.014:0.001:0.000 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 tier1 45 0 0.00 38 6 13.64 ASTL 0 genome.wustl.edu 37 2 96795654 96795654 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 96795654 96795654 G A SNP ASTL ENST00000342380 human ensembl 74_37 -1 known silent c.783 p.I261 0.959 pfam_Peptidase_M12A pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ENSG00000188886 tier1 - - 96 0 0.00 60 23 27.71 ASTN2 0 genome.wustl.edu 37 9 119495739 119495739 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 119495739 119495739 C T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known silent c.2460 p.P820 0.936 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 - - 139 0 0.00 124 18 12.68 ASXL3 0 genome.wustl.edu 37 18 31325875 31325875 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 31325875 31325875 G A SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known silent c.6063 p.P2021 0.019 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 14 0 0.00 7 7 50.00 ATAD2 0 genome.wustl.edu 37 8 124384893 124384893 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 124384893 124384893 T - DEL ATAD2 ENST00000287394 human ensembl 74_37 -1 known frame_shift_del c.354 p.E119fs 0.995 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 tier1 124 0 0.00 170 53 23.77 ATAD5 0 genome.wustl.edu 37 17 29220775 29220776 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 29220775 29220776 - A INS ATAD5 ENST00000321990 human ensembl 74_37 +1 known frame_shift_ins c.4904_4905 p.C1638fs 0.972:0.973 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 tier1 190 0 0.00 161 47 22.60 ATG9A 0 genome.wustl.edu 37 2 220085865 220085865 + Missense_Mutation SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 220085865 220085865 G C SNP ATG9A ENST00000361242 human ensembl 74_37 -1 known missense c.2305 p.P769A 1.000 NULL pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3 - no_errors ATG9A HGNC ENSG00000198925 29 0 0.00 13 3 18.75 ATP1A4 0 genome.wustl.edu 37 1 160156153 160156153 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 160156153 160156153 G A SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known silent c.3057 p.P1019 0.216 tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 tier1 - - 143 0 0.00 138 42 23.33 ATP2A1 0 genome.wustl.edu 37 16 28913639 28913640 + Frame_Shift_Ins INS - - CC TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 28913639 28913640 0 CC INS ATP2A1 ENST00000357084 human ensembl 74_37 +1 known frame_shift_ins c.2456_2457 p.R822fs 0.996:0.957 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_IIA pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_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_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A1 HGNC ENSG00000196296 194 0 0.00 201 14 6.51 ATP2A3 0 genome.wustl.edu 37 17 3845918 3845919 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 3845918 3845919 - C INS ATP2A3 ENST00000359983 human ensembl 74_37 -1 known frame_shift_ins c.1527_1526 p.S510fs 1.000:1.000 superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_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_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A3 HGNC ENSG00000074370 tier1 80 0 0.00 87 17 16.35 ATP2B1 0 genome.wustl.edu 37 12 90020290 90020290 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 90020290 90020290 T - DEL ATP2B1 ENST00000261173 human ensembl 74_37 -1 known frame_shift_del c.1070 p.K357fs 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_plasma 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 ATP2B1 HGNC ENSG00000070961 tier1 43 0 0.00 52 13 20.00 ATP2B3 0 genome.wustl.edu 37 X 152815000 152815000 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 152815000 152815000 G A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.1384 p.E462K 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase 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 ATP2B3 HGNC ENSG00000067842 tier1 - - 220 0 0.00 159 49 23.56 ATP2B4 0 genome.wustl.edu 37 1 203668653 203668653 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 203668653 203668653 G A SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known missense c.457 p.A153T 1.000 NULL 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 - - 105 0 0.00 139 12 7.95 ATP2B4 0 genome.wustl.edu 37 1 203683366 203683366 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 203683366 203683366 C T SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known silent c.2367 p.D789 0.854 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase 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 - - 118 0 0.00 102 17 14.29 ATP5J 0 genome.wustl.edu 37 21 27097572 27097572 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 27097572 27097572 G A SNP ATP5J ENST00000457143 human ensembl 74_37 -1 known missense c.278 p.A93V 1.000 pfam_ATPase_F0-cplx_f6su_mt,superfamily_ATPase_F0-cplx_f6su_mt pfam_ATPase_F0-cplx_f6su_mt,superfamily_ATPase_F0-cplx_f6su_mt - no_errors ATP5J HGNC ENSG00000154723 tier1 - - 40 0 0.00 51 11 17.74 ATP9A 0 genome.wustl.edu 37 20 50346454 50346454 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 50346454 50346454 C - DEL ATP9A ENST00000338821 human ensembl 74_37 -1 known frame_shift_del c.132 p.H45fs 0.976 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 tier1 156 0 0.00 146 33 18.44 ATP9B 0 genome.wustl.edu 37 18 77096655 77096655 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 77096655 77096655 C T SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.2056 p.R686W 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 tier1 - - 28 0 0.00 38 8 17.39 ATR 0 genome.wustl.edu 37 3 142231106 142231106 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 142231106 142231106 T C SNP ATR ENST00000350721 human ensembl 74_37 -1 known silent c.4848 p.S1616 0.001 NULL pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 tier1 - - 48 0 0.00 75 14 15.73 ATRX 0 genome.wustl.edu 37 X 76937581 76937581 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 76937581 76937581 T - DEL ATRX ENST00000373344 human ensembl 74_37 -1 known frame_shift_del c.3167 p.K1056fs 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 142 0 0.00 197 45 18.60 ATXN2L 0 genome.wustl.edu 37 16 28843844 28843844 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 28843844 28843844 G T SNP ATXN2L ENST00000395547 human ensembl 74_37 +1 known missense c.1544 p.G515V 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 tier1 - - 171 0 0.00 155 50 24.39 ATXN7 0 genome.wustl.edu 37 3 63981832 63981832 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 63981832 63981832 C - DEL ATXN7 ENST00000398590 human ensembl 74_37 +1 known frame_shift_del c.2334 p.T781fs 0.705 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 tier1 73 0 0.00 83 10 10.75 AVPR2 0 genome.wustl.edu 37 X 153171568 153171568 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 153171568 153171568 G A SNP AVPR2 ENST00000337474 human ensembl 74_37 +1 known missense c.608 p.R203H 0.348 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR2 HGNC ENSG00000126895 tier1 - - 116 0 0.00 88 24 21.43 AXIN2 0 genome.wustl.edu 37 17 63526140 63526140 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 63526140 63526140 G T SNP AXIN2 ENST00000307078 human ensembl 74_37 -1 known missense c.2486 p.P829Q 1.000 pfam_DIX,smart_DIX,pfscan_DIX pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 tier1 - - 115 0 0.00 116 11 8.66 AZU1 0 genome.wustl.edu 37 19 828314 828314 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 828314 828314 G A SNP AZU1 ENST00000233997 human ensembl 74_37 +1 known missense c.143 p.G48D 0.008 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors AZU1 HGNC ENSG00000172232 tier1 - - 214 0 0.00 166 28 14.36 B4GALNT1 0 genome.wustl.edu 37 12 58025103 58025103 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 58025103 58025103 C - DEL B4GALNT1 ENST00000341156 human ensembl 74_37 -1 known frame_shift_del c.263 p.G88fs 0.099 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 tier1 193 0 0.00 191 34 15.11 B4GALNT3 0 genome.wustl.edu 37 12 653594 653594 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 653594 653594 C - DEL B4GALNT3 ENST00000266383 human ensembl 74_37 +1 known frame_shift_del c.441 p.H149fs 1.000 pfam_PA14,smart_PA14 pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 tier1 107 0 0.00 119 28 19.05 B4GALNT4 0 genome.wustl.edu 37 11 375700 375700 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 375700 375700 G - DEL B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known frame_shift_del c.912 p.R307fs 0.021 NULL pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 tier1 89 0 0.00 88 20 18.52 B4GALNT4 0 genome.wustl.edu 37 11 380009 380009 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 380009 380009 C T SNP B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known missense c.2632 p.R878C 0.120 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 tier1 - - 130 0 0.00 102 12 10.53 B4GALT4 0 genome.wustl.edu 37 3 118937618 118937618 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 118937618 118937618 A G SNP B4GALT4 ENST00000359213 human ensembl 74_37 -1 known silent c.676 p.L226 1.000 pfam_Galactosyl_T_C,prints_Galactosyl_T pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT4 HGNC ENSG00000121578 tier1 - - 92 0 0.00 89 26 22.61 BACH2 0 genome.wustl.edu 37 6 90642584 90642586 + In_Frame_Del DEL GAC GAC - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 GAC GAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 90642584 90642586 GAC - DEL BACH2 ENST00000257749 human ensembl 74_37 -1 known in_frame_del c.2069_2067 p.S690in_frame_del 1.000:1.000:1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP 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 tier1 52 0 0.00 51 15 22.73 BAG4 0 genome.wustl.edu 37 8 38067842 38067843 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 38067842 38067843 - A INS BAG4 ENST00000287322 human ensembl 74_37 +1 known frame_shift_ins c.1205_1206 p.T405fs 1.000:0.728 pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG4 HGNC ENSG00000156735 tier1 87 0 0.00 125 24 16.11 BAG6 0 genome.wustl.edu 37 6 31612923 31612923 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 31612923 31612923 G - DEL BAG6 ENST00000404765 human ensembl 74_37 -1 known frame_shift_del c.1169 p.P390fs 0.675 NULL pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC ENSG00000204463 tier1 160 0 0.00 145 21 12.65 BAHD1 0 genome.wustl.edu 37 15 40750914 40750914 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 40750914 40750914 G A SNP BAHD1 ENST00000416165 human ensembl 74_37 +1 known missense c.251 p.R84Q 0.684 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC ENSG00000140320 tier1 - - 116 0 0.00 107 11 9.24 BAI1 0 genome.wustl.edu 37 8 143562629 143562629 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 143562629 143562629 C T SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.1843 p.R615W 0.990 smart_GPCR_2_extracellular_dom,prints_GPCR_2_brain-spec_angio_inhib,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 tier1 - - 128 0 0.00 161 26 13.90 BAMBI 0 genome.wustl.edu 37 10 28971178 28971178 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 28971178 28971178 T C SNP BAMBI ENST00000375533 human ensembl 74_37 +1 known silent c.631 p.L211 0.992 pirsf_BMP/activin_membr-bound_inhib pfam_BMP/activin_membr-bound_inhib,pfam_Activin_rcpt,pirsf_BMP/activin_membr-bound_inhib - no_errors BAMBI HGNC ENSG00000095739 tier1 - - 91 0 0.00 94 14 12.96 BANK1 0 genome.wustl.edu 37 4 102751218 102751218 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 102751218 102751218 A - DEL BANK1 ENST00000322953 human ensembl 74_37 +1 known frame_shift_del c.324 p.S110fs 0.532 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 tier1 66 0 0.00 67 19 22.09 BARHL1 0 genome.wustl.edu 37 9 135458535 135458535 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 135458535 135458535 C T SNP BARHL1 ENST00000263610 human ensembl 74_37 +1 known silent c.351 p.S117 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors BARHL1 HGNC ENSG00000125492 tier1 - - 176 0 0.00 153 29 15.76 BBS1 0 genome.wustl.edu 37 11 66293622 66293622 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 66293622 66293622 G A SNP BBS1 ENST00000419755 human ensembl 74_37 +1 known missense c.1250 p.R417Q 1.000 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam - no_errors CTD-3074O7.11 Clone_based_vega_gene ENSG00000256349 tier1 - - 72 0 0.00 69 22 24.18 BCAP29 0 genome.wustl.edu 37 7 107234540 107234540 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 107234540 107234540 T - DEL BCAP29 ENST00000379119 human ensembl 74_37 +1 known frame_shift_del c.334 p.W114fs 1.000 pfam_Bap31 pfam_Bap31 - no_errors BCAP29 HGNC ENSG00000075790 tier1 39 0 0.00 31 5 13.89 BCAR1 0 genome.wustl.edu 37 16 75271226 75271226 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 75271226 75271226 C T SNP BCAR1 ENST00000418647 human ensembl 74_37 -1 known missense c.788 p.R263H 0.999 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC ENSG00000050820 14 0 0.00 16 2 11.11 BCL11B 0 genome.wustl.edu 37 14 99642248 99642248 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 99642248 99642248 G A SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known missense c.925 p.R309C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 tier1 - - 11 0 0.00 8 5 38.46 BCL9L 0 genome.wustl.edu 37 11 118770652 118770652 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 118770652 118770652 G - DEL BCL9L ENST00000334801 human ensembl 74_37 -1 known frame_shift_del c.3380 p.P1127fs 0.996 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 tier1 43 0 0.00 41 11 21.15 BCL9L 0 genome.wustl.edu 37 11 118779017 118779017 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 118779017 118779017 C T SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.374 p.R125Q 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 tier1 - - 61 0 0.00 56 19 25.33 BCORL1 0 genome.wustl.edu 37 X 129155065 129155065 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 129155065 129155065 C T SNP BCORL1 ENST00000303743 human ensembl 74_37 +1 known missense c.3547 p.R1183W 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 tier1 - - 57 0 0.00 49 15 23.44 BEND3 0 genome.wustl.edu 37 6 107390524 107390524 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 107390524 107390524 C T SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known missense c.1871 p.R624H 0.443 pfam_BEN_domain pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 tier1 - - 46 0 0.00 39 12 23.53 BEST3 0 genome.wustl.edu 37 12 70091534 70091534 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 70091534 70091534 A - DEL BEST3 ENST00000330891 human ensembl 74_37 -1 known frame_shift_del c.45 p.F15fs 1.000 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 tier1 98 0 0.00 119 32 21.19 BIN3 0 genome.wustl.edu 37 8 22487477 22487477 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 22487477 22487477 T - DEL BIN3 ENST00000276416 human ensembl 74_37 -1 known frame_shift_del c.338 p.K113fs 1.000 pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom - no_errors BIN3 HGNC ENSG00000147439 tier1 21 0 0.00 23 4 14.81 BLM 0 genome.wustl.edu 37 15 91303326 91303328 + In_Frame_Del DEL TTT TTT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 91303326 91303328 TTT - DEL BLM ENST00000559724 human ensembl 74_37 +1 known in_frame_del c.1203_1205 p.F405in_frame_del 0.021:0.016:0.011 NULL NULL - no_errors BLM HGNC ENSG00000197299 tier1 10 0 0.00 6 6 50.00 BMP2 0 genome.wustl.edu 37 20 6750905 6750905 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 6750905 6750905 G T SNP BMP2 ENST00000378827 human ensembl 74_37 +1 known missense c.132 p.Q44H 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP2 HGNC ENSG00000125845 tier1 - - 22 0 0.00 23 6 20.69 BMPR1A 0 genome.wustl.edu 37 10 88676991 88676991 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 88676991 88676991 C T SNP BMPR1A ENST00000372037 human ensembl 74_37 +1 known missense c.776 p.A259V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR1A HGNC ENSG00000107779 tier1 - - 40 0 0.00 33 7 17.50 BOLL 0 genome.wustl.edu 37 2 198643760 198643760 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 198643760 198643760 A - DEL BOLL ENST00000321801 human ensembl 74_37 -1 known frame_shift_del c.196 p.S66fs 1.000 pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors BOLL HGNC ENSG00000152430 tier1 36 0 0.00 40 7 14.89 BPI 0 genome.wustl.edu 37 20 36954769 36954769 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 36954769 36954769 G A SNP BPI ENST00000262865 human ensembl 74_37 +1 known missense c.1108 p.V370M 0.002 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPI HGNC ENSG00000101425 tier1 rs144369430 - 30 0 0.00 32 7 17.95 BPIFA2 0 genome.wustl.edu 37 20 31760789 31760789 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 31760789 31760789 C T SNP BPIFA2 ENST00000253362 human ensembl 74_37 +1 known missense c.209 p.A70V 0.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA2 HGNC ENSG00000131050 tier1 rs200885048 - 63 0 0.00 80 6 6.98 BPIFB4 0 genome.wustl.edu 37 20 31671213 31671214 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 31671213 31671214 - C INS BPIFB4 ENST00000375483 human ensembl 74_37 +1 known frame_shift_ins c.210_211 p.V73fs 0.020:0.030 NULL 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 133 0 0.00 127 19 13.01 BRAF 0 genome.wustl.edu 37 7 140476857 140476857 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 140476857 140476857 T C SNP BRAF ENST00000288602 human ensembl 74_37 -1 known missense c.1549 p.M517V 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 tier1 - - 40 0 0.00 65 17 20.73 BRD3 0 genome.wustl.edu 37 9 136916775 136916775 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 136916775 136916775 T - DEL BRD3 ENST00000303407 human ensembl 74_37 -1 known frame_shift_del c.408 p.V137fs 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 tier1 67 0 0.00 46 12 20.69 BRD3 0 genome.wustl.edu 37 9 136918529 136918529 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 136918529 136918529 G - DEL BRD3 ENST00000303407 human ensembl 74_37 -1 known frame_shift_del c.71 p.P24fs 1.000 superfamily_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 tier1 81 0 0.00 59 17 22.37 BRD4 0 genome.wustl.edu 37 19 15353815 15353815 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 15353815 15353815 G A SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known missense c.3065 p.P1022L 0.863 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 tier1 - - 13 0 0.00 8 5 38.46 BRDT 0 genome.wustl.edu 37 1 92447227 92447228 + In_Frame_Ins INS - - AGC TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 92447227 92447228 0 AGC INS BRDT ENST00000362005 human ensembl 74_37 +1 known in_frame_ins c.1917_1918 p.643in_frame_insS 0.003:0.989 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 81 0 0.00 112 10 8.20 BRF1 0 genome.wustl.edu 37 14 105684029 105684029 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 105684029 105684029 C T SNP BRF1 ENST00000546474 human ensembl 74_37 -1 known missense c.1624 p.V542M 1.000 pfam_BRF1_TBP-bd pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 tier1 - - 54 0 0.00 52 8 13.33 BRWD1 0 genome.wustl.edu 37 21 40558989 40558989 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 40558989 40558989 A - DEL BRWD1 ENST00000333229 human ensembl 74_37 -1 known frame_shift_del c.6926 p.L2309fs 0.001 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 tier1 62 0 0.00 86 23 21.10 BRWD3 0 genome.wustl.edu 37 X 79955509 79955509 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 79955509 79955509 T C SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known missense c.2890 p.K964E 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 tier1 - - 22 0 0.00 22 10 31.25 BSCL2 0 genome.wustl.edu 37 11 62458782 62458783 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 62458782 62458783 - C INS BSCL2 ENST00000360796 human ensembl 74_37 -1 known frame_shift_ins c.975_974 p.I326fs 0.932:0.937 NULL pfam_Adipose-reg_protein_Seipin - no_errors BSCL2 HGNC ENSG00000168000 tier1 71 0 0.00 81 18 18.18 BTBD11 0 genome.wustl.edu 37 12 107713778 107713778 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 107713778 107713778 C T SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.1061 p.T354M 1.000 superfamily_Histone-fold pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 tier1 - - 40 0 0.00 33 15 31.25 BTBD17 0 genome.wustl.edu 37 17 72353756 72353756 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 72353756 72353756 G A SNP BTBD17 ENST00000375366 human ensembl 74_37 -1 known silent c.477 p.R159 0.849 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD17 HGNC ENSG00000204347 tier1 - - 8 0 0.00 7 5 41.67 BTBD2 0 genome.wustl.edu 37 19 1997459 1997459 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 1997459 1997459 G A SNP BTBD2 ENST00000255608 human ensembl 74_37 -1 known silent c.411 p.F137 0.866 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD2 HGNC ENSG00000133243 tier1 - - 217 0 0.00 203 47 18.80 BTBD7 0 genome.wustl.edu 37 14 93760615 93760615 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 93760615 93760615 G A SNP BTBD7 ENST00000334746 human ensembl 74_37 -1 known missense c.751 p.L251F 1.000 pfam_BTB_POZ,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 tier1 - - 71 0 0.00 68 19 21.59 BTBD7 0 genome.wustl.edu 37 14 93761193 93761193 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 93761193 93761193 T - DEL BTBD7 ENST00000334746 human ensembl 74_37 -1 known frame_shift_del c.173 p.K58fs 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 tier1 166 0 0.00 140 69 33.01 BTBD9 0 genome.wustl.edu 37 6 38160322 38160322 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 38160322 38160322 G A SNP BTBD9 ENST00000403056 human ensembl 74_37 -1 known silent c.1614 p.I538 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC ENSG00000183826 tier1 - - 28 0 0.00 26 5 16.13 BTBD9 0 genome.wustl.edu 37 6 38565837 38565837 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 38565837 38565837 C T SNP BTBD9 ENST00000403056 human ensembl 74_37 -1 known missense c.34 p.A12T 1.000 superfamily_BTB/POZ_fold pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC ENSG00000183826 tier1 - - 67 0 0.00 98 8 7.55 BTG3 0 genome.wustl.edu 37 21 18966594 18966595 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 18966594 18966595 - T INS BTG3 ENST00000339775 human ensembl 74_37 -1 known frame_shift_ins c.708_707 p.P237fs 0.903:0.980 NULL pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors BTG3 HGNC ENSG00000154640 tier1 64 0 0.00 72 15 17.24 BTK 0 genome.wustl.edu 37 X 100608075 100608076 + RNA INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 100608075 100608076 - A INS BTK ENST00000470069 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.004 - - - no_errors BTK HGNC ENSG00000010671 tier1 56 0 0.00 51 12 19.05 C11orf42 0 genome.wustl.edu 37 11 6232266 6232266 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 6232266 6232266 C T SNP C11orf42 ENST00000316375 human ensembl 74_37 +1 known silent c.996 p.D332 1.000 NULL NULL - no_errors C11orf42 HGNC ENSG00000180878 tier1 rs146108977 - 59 0 0.00 84 6 6.67 C11orf48 0 genome.wustl.edu 37 11 62430741 62430741 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 62430741 62430741 G A SNP C11orf48 ENST00000431002 human ensembl 74_37 -1 known missense c.806 p.P269L 1.000 NULL NULL - no_errors C11orf48 HGNC ENSG00000162194 tier1 - - 98 0 0.00 83 15 15.31 C11orf65 0 genome.wustl.edu 37 11 108277840 108277840 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 108277840 108277840 G A SNP C11orf65 ENST00000393084 human ensembl 74_37 -1 known nonsense c.211 p.R71* 0.998 NULL NULL - no_errors C11orf65 HGNC ENSG00000166323 tier1 - - 34 0 0.00 21 6 22.22 C11orf72 0 genome.wustl.edu 37 11 67372123 67372123 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 67372123 67372123 T G SNP C11orf72 ENST00000333139 human ensembl 74_37 -1 known missense c.418 p.S140R 0.000 NULL NULL - no_errors C11orf72 HGNC ENSG00000184224 tier1 - - 9 0 0.00 7 4 36.36 C14orf159 0 genome.wustl.edu 37 14 91662735 91662735 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 91662735 91662735 G T SNP C14orf159 ENST00000256324 human ensembl 74_37 +1 known missense c.1212 p.Q404H 0.000 pirsf_UPF0317_mt pfam_DUF1445,pirsf_UPF0317_mt - no_errors C14orf159 HGNC ENSG00000133943 tier1 - - 37 0 0.00 29 13 30.95 C14orf166B 0 genome.wustl.edu 37 14 77297613 77297613 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 77297613 77297613 A G SNP C14orf166B ENST00000393774 human ensembl 74_37 +1 known silent c.285 p.V95 0.011 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors C14orf166B HGNC ENSG00000100565 69 0 0.00 73 5 6.41 C15orf27 0 genome.wustl.edu 37 15 76448997 76448997 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 76448997 76448997 T - DEL C15orf27 ENST00000388942 human ensembl 74_37 +1 known frame_shift_del c.280 p.L95fs 1.000 NULL NULL - no_errors C15orf27 HGNC ENSG00000169758 tier1 80 0 0.00 72 12 14.29 C15orf39 0 genome.wustl.edu 37 15 75499818 75499818 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 75499818 75499818 C - DEL C15orf39 ENST00000360639 human ensembl 74_37 +1 known frame_shift_del c.1429 p.C479fs 0.000 NULL NULL - no_errors C15orf39 HGNC ENSG00000167173 tier1 99 0 0.00 91 20 18.02 C16orf90 0 genome.wustl.edu 37 16 3544587 3544587 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 3544587 3544587 G A SNP C16orf90 ENST00000437192 human ensembl 74_37 -1 known missense c.337 p.R113C 0.998 NULL NULL - no_errors C16orf90 HGNC ENSG00000215131 tier1 - - 76 0 0.00 77 6 7.23 C18orf8 0 genome.wustl.edu 37 18 21111681 21111681 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 21111681 21111681 T - DEL C18orf8 ENST00000591367 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C18orf8 HGNC ENSG00000141452 tier1 91 0 0.00 108 16 12.90 C19orf10 0 genome.wustl.edu 37 19 4659964 4659964 + Missense_Mutation SNP A A T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 4659964 4659964 A T SNP C19orf10 ENST00000262947 human ensembl 74_37 -1 known missense c.421 p.F141I 0.986 pfam_UPF0556 pfam_UPF0556 - no_errors C19orf10 HGNC ENSG00000074842 tier1 - - 142 0 0.00 145 42 22.46 C19orf24 0 genome.wustl.edu 37 19 1278831 1278831 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 1278831 1278831 G T SNP C19orf24 ENST00000469144 human ensembl 74_37 +1 putative missense c.22 p.G8W 0.000 NULL NULL - no_errors C19orf24 HGNC ENSG00000228300 tier1 - - 93 0 0.00 82 12 12.77 C19orf57 0 genome.wustl.edu 37 19 14000018 14000018 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 14000018 14000018 C T SNP C19orf57 ENST00000454313 human ensembl 74_37 -1 known missense c.1651 p.E551K 0.003 NULL NULL - no_errors C19orf57 HGNC ENSG00000132016 tier1 - - 37 0 0.00 35 8 18.60 C1orf106 0 genome.wustl.edu 37 1 200880780 200880780 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 200880780 200880780 A G SNP C1orf106 ENST00000367342 human ensembl 74_37 +1 known missense c.1414 p.S472G 1.000 NULL pfam_DUF3338 - no_errors C1orf106 HGNC ENSG00000163362 tier1 - - 180 0 0.00 170 43 20.19 C1orf112 0 genome.wustl.edu 37 1 169790867 169790867 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 169790867 169790867 T - DEL C1orf112 ENST00000286031 human ensembl 74_37 +1 known frame_shift_del c.750 p.F252fs 0.998 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 tier1 30 0 0.00 33 5 13.16 C1orf131 0 genome.wustl.edu 37 1 231362561 231362561 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 231362561 231362561 T - DEL C1orf131 ENST00000366649 human ensembl 74_37 -1 known frame_shift_del c.617 p.K206fs 0.924 NULL NULL - no_errors C1orf131 HGNC ENSG00000143633 tier1 85 0 0.00 128 32 20.00 C2CD2L 0 genome.wustl.edu 37 11 118984640 118984640 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 118984640 118984640 G A SNP C2CD2L ENST00000336702 human ensembl 74_37 +1 known missense c.1568 p.R523Q 1.000 NULL superfamily_C2_dom - no_errors C2CD2L HGNC ENSG00000172375 tier1 - - 94 0 0.00 56 22 28.21 C3orf52 0 genome.wustl.edu 37 3 111849414 111849416 + RNA DEL CTT CTT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 111849414 111849416 CTT - DEL C3orf52 ENST00000467942 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors C3orf52 HGNC ENSG00000114529 tier1 54 0 0.00 58 9 13.43 C4orf6 0 genome.wustl.edu 37 4 5527159 5527160 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 5527159 5527160 - A INS C4orf6 ENST00000195455 human ensembl 74_37 +1 known frame_shift_ins c.102_103 p.N35fs 0.013:0.015 NULL NULL - no_errors C4orf6 HGNC ENSG00000082929 tier1 47 0 0.00 46 13 22.03 C5orf42 0 genome.wustl.edu 37 5 37180204 37180204 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 37180204 37180204 T - DEL C5orf42 ENST00000425232 human ensembl 74_37 -1 known frame_shift_del c.5652 p.E1885fs 0.418 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 tier1 36 0 0.00 43 9 17.31 C6orf89 0 genome.wustl.edu 37 6 36867370 36867371 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 36867370 36867371 - C INS C6orf89 ENST00000355190 human ensembl 74_37 +1 known frame_shift_ins c.171_172 p.Q60fs 0.997:0.991 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 tier1 83 0 0.00 94 11 10.48 C7orf62 0 genome.wustl.edu 37 7 88424142 88424142 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 88424142 88424142 G A SNP C7orf62 ENST00000297203 human ensembl 74_37 -1 known nonsense c.115 p.R39* 0.991 NULL NULL - no_errors C7orf62 HGNC ENSG00000164645 tier1 - - 95 0 0.00 117 24 17.02 C8orf86 0 genome.wustl.edu 37 8 38385880 38385880 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 38385880 38385880 C 0 DEL C8orf86 ENST00000358138 human ensembl 74_37 -1 known frame_shift_del c.276 p.C93fs 0.000 NULL NULL - no_errors C8orf86 HGNC ENSG00000196166 111 0 0.00 161 17 9.55 C9orf131 0 genome.wustl.edu 37 9 35043650 35043650 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 35043650 35043650 C - DEL C9orf131 ENST00000312292 human ensembl 74_37 +1 known frame_shift_del c.1024 p.C344fs 0.000 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 tier1 549 0 0.00 533 106 16.59 CACNA1A 0 genome.wustl.edu 37 19 13366055 13366055 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 13366055 13366055 C T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.4609 p.A1537T 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 tier1 - - 27 0 0.00 25 6 19.35 CACNA1C 0 genome.wustl.edu 37 12 2676929 2676929 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 2676929 2676929 G A SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.1864 p.V622I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 tier1 - - 29 0 0.00 24 6 20.00 CACNA1E 0 genome.wustl.edu 37 1 181727095 181727095 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 181727095 181727095 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.4342 p.D1448N 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 115 0 0.00 130 38 22.62 CACNA1E 0 genome.wustl.edu 37 1 181767885 181767885 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 181767885 181767885 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.6857 p.R2286Q 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 26 0 0.00 32 8 20.00 CACNA1G 0 genome.wustl.edu 37 17 48680219 48680219 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 48680219 48680219 C T SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known silent c.3954 p.T1318 0.877 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 tier1 - - 56 0 0.00 49 12 19.67 CACNA2D2 0 genome.wustl.edu 37 3 50402903 50402903 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 50402903 50402903 C T SNP CACNA2D2 ENST00000435965 human ensembl 74_37 -1 known silent c.3003 p.E1001 0.249 NULL pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC ENSG00000007402 tier1 - - 60 0 0.00 67 18 21.18 CACNA2D4 0 genome.wustl.edu 37 12 2017138 2017138 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 2017138 2017138 G A SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known silent c.552 p.G184 0.910 pfam_VWA_N pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 tier1 - - 80 0 0.00 71 28 28.28 CAMSAP3 0 genome.wustl.edu 37 19 7682929 7682929 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 7682929 7682929 G A SNP CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known missense c.3817 p.G1273S 0.223 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 tier1 - - 94 0 0.00 98 30 23.44 CAMTA1 0 genome.wustl.edu 37 1 7700521 7700521 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 7700521 7700521 C A SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.572 p.P191H 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 tier1 - - 138 0 0.00 141 16 10.19 CAMTA2 0 genome.wustl.edu 37 17 4875738 4875738 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 4875738 4875738 G - DEL CAMTA2 ENST00000414043 human ensembl 74_37 -1 known frame_shift_del c.2666 p.P889fs 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 tier1 46 0 0.00 22 11 33.33 CAMTA2 0 genome.wustl.edu 37 17 4886137 4886137 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 4886137 4886137 C T SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known missense c.323 p.R108Q 1.000 pfam_CG-1_dom pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 tier1 - - 77 0 0.00 63 14 18.18 CAPN10 0 genome.wustl.edu 37 2 241533993 241533993 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 241533993 241533993 A G SNP CAPN10 ENST00000391984 human ensembl 74_37 +1 known silent c.864 p.V288 0.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN10 HGNC ENSG00000142330 tier1 - - 274 0 0.00 255 53 17.21 CAPRIN2 0 genome.wustl.edu 37 12 30906514 30906515 + Frame_Shift_Del DEL AA AA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 30906514 30906515 AA - DEL CAPRIN2 ENST00000251071 human ensembl 74_37 -1 known frame_shift_del c.184_183 p.S62fs 0.827:0.846 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 tier1 99 0 0.00 114 25 17.99 CARM1 0 genome.wustl.edu 37 19 11031171 11031171 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 11031171 11031171 G A SNP CARM1 ENST00000327064 human ensembl 74_37 +1 known missense c.1256 p.R419Q 1.000 pfam_Arg_MeTrfase pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11 - no_errors CARM1 HGNC ENSG00000142453 tier1 - - 47 0 0.00 57 17 22.97 CASKIN1 0 genome.wustl.edu 37 16 2231466 2231466 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 2231466 2231466 G A SNP CASKIN1 ENST00000343516 human ensembl 74_37 -1 known missense c.1903 p.P635S 0.834 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 tier1 - - 67 0 0.00 44 12 21.43 CASP8AP2 0 genome.wustl.edu 37 6 90572377 90572377 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 90572377 90572377 C T SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors CASP8AP2 HGNC ENSG00000118412 tier1 - - 152 0 0.00 157 37 19.07 CBLL1 0 genome.wustl.edu 37 7 107393922 107393922 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 107393922 107393922 G A SNP CBLL1 ENST00000440859 human ensembl 74_37 +1 known missense c.248 p.R83Q 1.000 NULL pfscan_Znf_RING - no_errors CBLL1 HGNC ENSG00000105879 tier1 - - 66 0 0.00 57 13 18.57 CBX3 0 genome.wustl.edu 37 7 26245999 26245999 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 26245999 26245999 A - DEL CBX3 ENST00000337620 human ensembl 74_37 +1 known frame_shift_del c.36 p.K14fs 1.000 NULL pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX3 HGNC ENSG00000122565 tier1 26 0 0.00 35 8 18.60 CBX6 0 genome.wustl.edu 37 22 39263028 39263028 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 39263028 39263028 C - DEL CBX6 ENST00000407418 human ensembl 74_37 -1 known frame_shift_del c.425 p.G142fs 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX6 HGNC ENSG00000183741 tier1 28 0 0.00 36 14 28.00 CBX8 0 genome.wustl.edu 37 17 77768618 77768618 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 77768618 77768618 C - DEL CBX8 ENST00000269385 human ensembl 74_37 -1 known frame_shift_del c.986 p.G329fs 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC ENSG00000141570 tier1 42 0 0.00 49 12 19.67 CC2D2A 0 genome.wustl.edu 37 4 15518323 15518323 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 15518323 15518323 C A SNP CC2D2A ENST00000413206 human ensembl 74_37 +1 known missense c.1093 p.P365T 0.052 NULL superfamily_C2_dom,smart_C2_dom - no_errors CC2D2A HGNC ENSG00000048342 tier1 - - 20 0 0.00 21 8 27.59 CC2D2A 0 genome.wustl.edu 37 4 15602915 15602915 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 15602915 15602915 C T SNP CC2D2A ENST00000413206 human ensembl 74_37 +1 known missense c.4730 p.A1577V 1.000 NULL superfamily_C2_dom,smart_C2_dom - no_errors CC2D2A HGNC ENSG00000048342 tier1 - - 19 0 0.00 12 4 25.00 CCDC105 0 genome.wustl.edu 37 19 15132721 15132721 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 15132721 15132721 G A SNP CCDC105 ENST00000292574 human ensembl 74_37 +1 known missense c.1241 p.R414H 0.839 pfam_Tektin pfam_Tektin - no_errors CCDC105 HGNC ENSG00000160994 tier1 - - 41 0 0.00 48 15 23.81 CCDC116 0 genome.wustl.edu 37 22 21989105 21989105 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 21989105 21989105 C T SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known silent c.753 p.G251 0.000 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 tier1 - - 200 0 0.00 204 53 20.62 CCDC120 0 genome.wustl.edu 37 X 48922629 48922629 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 48922629 48922629 G A SNP CCDC120 ENST00000603986 human ensembl 74_37 +1 known missense c.787 p.E263K 0.997 NULL pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 tier1 - - 36 0 0.00 41 14 25.45 CCDC126 0 genome.wustl.edu 37 7 23650855 23650855 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 23650855 23650855 T - DEL CCDC126 ENST00000486109 human ensembl 74_37 +1 putative rna NULL NULL 0.020 - - - no_errors CCDC126 HGNC ENSG00000169193 tier1 31 0 0.00 28 6 17.65 CCDC129 0 genome.wustl.edu 37 7 31683400 31683400 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 31683400 31683400 T G SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known missense c.2494 p.C832G 0.030 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 tier1 - - 72 0 0.00 87 20 18.69 CCDC146 0 genome.wustl.edu 37 7 76888377 76888378 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 76888377 76888378 - A INS CCDC146 ENST00000285871 human ensembl 74_37 +1 known frame_shift_ins c.750_751 p.V252fs 0.999:1.000 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 tier1 21 0 0.00 5 4 44.44 CCDC151 0 genome.wustl.edu 37 19 11537597 11537597 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 11537597 11537597 C T SNP CCDC151 ENST00000356392 human ensembl 74_37 -1 known missense c.620 p.R207Q 1.000 NULL NULL - no_errors CCDC151 HGNC ENSG00000198003 tier1 - - 47 0 0.00 48 9 15.79 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36776105 36776105 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 36776105 36776105 C T SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known silent c.405 p.A135 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 tier1 - - 89 0 0.00 76 10 11.63 CCDC171 0 genome.wustl.edu 37 9 15744289 15744290 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 15744289 15744290 - A INS CCDC171 ENST00000380701 human ensembl 74_37 +1 known frame_shift_ins c.2068_2069 p.N692fs 1.000:1.000 superfamily_STAT_TF_coiled-coil superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 tier1 23 0 0.00 31 9 22.50 CCDC18 0 genome.wustl.edu 37 1 93667516 93667516 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 93667516 93667516 A - DEL CCDC18 ENST00000557479 human ensembl 74_37 +1 known frame_shift_del c.1120 p.V377fs 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 tier1 41 0 0.00 35 12 25.53 CCDC30 0 genome.wustl.edu 37 1 43002200 43002203 + Frame_Shift_Del DEL AGAG AGAG - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AGAG AGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 43002200 43002203 AGAG - DEL CCDC30 ENST00000340612 human ensembl 74_37 +1 known frame_shift_del c.45_48 p.E18fs 1.000:0.998:0.973:0.261 NULL NULL - no_errors CCDC30 HGNC ENSG00000186409 tier1 83 0 0.00 97 24 19.83 CCDC73 0 genome.wustl.edu 37 11 32635951 32635951 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 32635951 32635951 T - DEL CCDC73 ENST00000335185 human ensembl 74_37 -1 known frame_shift_del c.1913 p.N638fs 0.024 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 tier1 33 0 0.00 28 8 22.22 CCNJL 0 genome.wustl.edu 37 5 159680469 159680469 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 159680469 159680469 C T SNP CCNJL ENST00000393977 human ensembl 74_37 -1 known silent c.1224 p.E408 0.995 NULL pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJL HGNC ENSG00000135083 tier1 - - 81 0 0.00 91 18 16.51 CCR1 0 genome.wustl.edu 37 3 46245624 46245624 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 46245624 46245624 G A SNP CCR1 ENST00000296140 human ensembl 74_37 -1 known nonsense c.181 p.Q61* 0.010 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_Chemokine_rcpt,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_NPY_rcpt,prints_ATII_rcpt - no_errors CCR1 HGNC ENSG00000163823 tier1 - - 51 0 0.00 62 16 20.51 CCS 0 genome.wustl.edu 37 11 66372848 66372848 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 66372848 66372848 C T SNP CCS ENST00000530961 human ensembl 74_37 +1 known missense c.713 p.T238M 0.599 NULL pfam_SOD_Cu_Zn_dom,pfam_HeavyMe-assoc_HMA,superfamily_SOD_Cu_Zn_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA - no_errors CCS HGNC ENSG00000173992 tier1 - - 61 0 0.00 42 7 14.29 CCS 0 genome.wustl.edu 37 11 66373195 66373195 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 66373195 66373195 C T SNP CCS ENST00000533244 human ensembl 74_37 +1 known missense c.694 p.R232C 1.000 superfamily_SOD_Cu_Zn_dom pfam_SOD_Cu_Zn_dom,pfam_HeavyMe-assoc_HMA,superfamily_SOD_Cu_Zn_dom,superfamily_HeavyMe-assoc_HMA,prints_SOD_Cu_Zn_dom,pfscan_HeavyMe-assoc_HMA - no_errors CCS HGNC ENSG00000173992 tier1 - - 73 0 0.00 61 17 21.79 CCSER1 0 genome.wustl.edu 37 4 91389426 91389426 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 91389426 91389426 G A SNP CCSER1 ENST00000333691 human ensembl 74_37 +1 known missense c.1645 p.A549T 0.986 NULL NULL - no_errors CCSER1 HGNC ENSG00000184305 tier1 - - 32 0 0.00 25 7 21.88 CD163L1 0 genome.wustl.edu 37 12 7551003 7551003 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 7551003 7551003 G A SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.1586 p.T529I 0.012 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 tier1 - - 148 0 0.00 145 40 21.62 CD1D 0 genome.wustl.edu 37 1 158153810 158153810 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 158153810 158153810 G A SNP CD1D ENST00000368171 human ensembl 74_37 +1 known missense c.971 p.R324Q 0.011 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1D HGNC ENSG00000158473 tier1 - - 159 0 0.00 152 50 24.75 CD5L 0 genome.wustl.edu 37 1 157805863 157805863 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 157805863 157805863 G A SNP CD5L ENST00000368174 human ensembl 74_37 -1 known silent c.138 p.G46 0.855 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD5L HGNC ENSG00000073754 tier1 - - 164 0 0.00 144 38 20.77 CD74 0 genome.wustl.edu 37 5 149786868 149786868 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 149786868 149786868 G T SNP CD74 ENST00000009530 human ensembl 74_37 -1 known missense c.145 p.L49M 0.998 pfam_MHC_II-assoc_invar/CLIP_MHC-bd,pirsf_MHC_II-assoc_invar_chain,prints_MHC_II-assoc_invar_chain pfam_MHC_II-assoc_invar/CLIP_MHC-bd,pfam_MHC_II-assoc_invariant_trimer,pfam_Thyroglobulin_1,superfamily_MHC_II-assoc_invariant_trimer,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_MHC_II-assoc_invar_chain,pfscan_Thyroglobulin_1,prints_MHC_II-assoc_invar_chain - no_errors CD74 HGNC ENSG00000019582 tier1 - - 29 0 0.00 19 7 26.92 CDADC1 0 genome.wustl.edu 37 13 49854811 49854811 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 49854811 49854811 C T SNP CDADC1 ENST00000251108 human ensembl 74_37 +1 known missense c.1387 p.L463F 1.000 NULL pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors CDADC1 HGNC ENSG00000102543 tier1 - - 64 0 0.00 38 20 34.48 CDC42BPA 0 genome.wustl.edu 37 1 227227896 227227898 + In_Frame_Del DEL AGG AGG - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 227227896 227227898 AGG - DEL CDC42BPA ENST00000334218 human ensembl 74_37 -1 known in_frame_del c.3030_3028 p.P1010in_frame_del 0.993:1.000:1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 tier1 46 0 0.00 57 10 14.93 CDH10 0 genome.wustl.edu 37 5 24537693 24537693 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 24537693 24537693 T 0 DEL CDH10 ENST00000264463 human ensembl 74_37 -1 known frame_shift_del c.322 p.T108fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 64 0 0.00 70 11 13.58 CDH12 0 genome.wustl.edu 37 5 22078617 22078617 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 22078617 22078617 C T SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.169 p.V57I 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 110 0 0.00 124 33 20.89 CDH23 0 genome.wustl.edu 37 10 73501614 73501614 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 73501614 73501614 G A SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.4796 p.R1599H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 tier1 - - 31 0 0.00 10 11 52.38 CDH24 0 genome.wustl.edu 37 14 23517658 23517658 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 23517658 23517658 C T SNP CDH24 ENST00000267383 human ensembl 74_37 -1 known missense c.1991 p.R664Q 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 tier1 - - 215 0 0.00 151 57 27.40 CDH5 0 genome.wustl.edu 37 16 66436738 66436738 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 66436738 66436738 C T SNP CDH5 ENST00000341529 human ensembl 74_37 +1 known missense c.2021 p.P674L 0.529 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC ENSG00000179776 tier1 - - 25 0 0.00 14 4 22.22 CDH7 0 genome.wustl.edu 37 18 63511084 63511084 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 63511084 63511084 C T SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.1018 p.R340W 0.111 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 tier1 - - 67 0 0.00 53 24 31.17 CDH8 0 genome.wustl.edu 37 16 61851604 61851604 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 61851604 61851604 C T SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known silent c.1056 p.T352 0.010 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 tier1 - - 53 0 0.00 51 14 21.54 CDHR2 0 genome.wustl.edu 37 5 176003134 176003134 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 176003134 176003134 C - DEL CDHR2 ENST00000261944 human ensembl 74_37 +1 known frame_shift_del c.1142 p.R383fs 0.405 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 tier1 83 0 0.00 71 13 15.48 CDHR3 0 genome.wustl.edu 37 7 105669010 105669011 + Frame_Shift_Del DEL AG AG - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 105669010 105669011 AG - DEL CDHR3 ENST00000317716 human ensembl 74_37 +1 known frame_shift_del c.2286_2287 p.D765fs 0.000:0.005 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 tier1 47 0 0.00 52 11 17.46 CDK3 0 genome.wustl.edu 37 17 73998463 73998463 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 73998463 73998463 C T SNP CDK3 ENST00000425876 human ensembl 74_37 +1 known silent c.450 p.R150 0.951 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK3 HGNC ENSG00000250506 tier1 - - 42 0 0.00 42 14 25.00 CDK5R2 0 genome.wustl.edu 37 2 219825132 219825132 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 219825132 219825132 G A SNP CDK5R2 ENST00000302625 human ensembl 74_37 +1 known missense c.590 p.R197H 1.000 pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator - no_errors CDK5R2 HGNC ENSG00000171450 tier1 - - 37 0 0.00 26 6 18.75 CDX4 0 genome.wustl.edu 37 X 72667406 72667406 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 72667406 72667406 C T SNP CDX4 ENST00000373514 human ensembl 74_37 +1 known missense c.317 p.A106V 0.000 pfam_Caudal_activation_dom pfam_Caudal_activation_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX4 HGNC ENSG00000131264 tier1 - - 49 0 0.00 28 13 30.95 CDYL2 0 genome.wustl.edu 37 16 80718448 80718448 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 80718448 80718448 C T SNP CDYL2 ENST00000570137 human ensembl 74_37 -1 known silent c.603 p.A201 0.008 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 tier1 rs145169210 - 91 0 0.00 79 32 28.83 CEACAM5 0 genome.wustl.edu 37 19 42219621 42219621 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 42219621 42219621 G A SNP CEACAM5 ENST00000221992 human ensembl 74_37 +1 known silent c.756 p.G252 0.109 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM5 HGNC ENSG00000105388 tier1 - - 59 0 0.00 68 24 26.09 CEBPZ 0 genome.wustl.edu 37 2 37454908 37454908 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 37454908 37454908 T - DEL CEBPZ ENST00000234170 human ensembl 74_37 -1 known frame_shift_del c.1428 p.D477fs 1.000 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 tier1 31 0 0.00 40 7 14.89 CELSR1 0 genome.wustl.edu 37 22 46931227 46931227 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 46931227 46931227 C - DEL CELSR1 ENST00000262738 human ensembl 74_37 -1 known frame_shift_del c.1841 p.G614fs 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 tier1 79 0 0.00 53 23 30.26 CENPBD1 0 genome.wustl.edu 37 16 90038141 90038141 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 90038141 90038141 T - DEL CENPBD1 ENST00000314994 human ensembl 74_37 -1 known frame_shift_del c.190 p.I64fs 0.056 pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors CENPBD1 HGNC ENSG00000177946 tier1 14 0 0.00 22 4 15.38 CENPC 0 genome.wustl.edu 37 4 68384935 68384936 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 68384935 68384936 0 T INS CENPC ENST00000273853 human ensembl 74_37 -1 known frame_shift_ins c.617_616 p.R206fs 1.000:1.000 NULL pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC HGNC ENSG00000145241 44 0 0.00 68 9 11.69 CENPF 0 genome.wustl.edu 37 1 214830482 214830482 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 214830482 214830482 C T SNP CENPF ENST00000366955 human ensembl 74_37 +1 known nonsense c.8692 p.R2898* 0.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 tier1 - - 157 0 0.00 211 20 8.62 CENPJ 0 genome.wustl.edu 37 13 25486837 25486837 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 25486837 25486837 C T SNP CENPJ ENST00000381884 human ensembl 74_37 -1 known silent c.327 p.A109 0.000 NULL pfam_Tcp10_C_dom - no_errors CENPJ HGNC ENSG00000151849 tier1 - - 82 0 0.00 84 23 21.50 CEP128 0 genome.wustl.edu 37 14 81297570 81297570 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 81297570 81297570 C T SNP CEP128 ENST00000281129 human ensembl 74_37 -1 known missense c.1126 p.A376T 0.004 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 tier1 - - 106 0 0.00 122 35 22.29 CEP68 0 genome.wustl.edu 37 2 65299492 65299492 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 65299492 65299492 C T SNP CEP68 ENST00000377990 human ensembl 74_37 +1 known missense c.1262 p.A421V 0.000 NULL NULL - no_errors CEP68 HGNC ENSG00000011523 tier1 - - 94 0 0.00 89 11 11.00 CEP97 0 genome.wustl.edu 37 3 101483744 101483744 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 101483744 101483744 G A SNP CEP97 ENST00000327230 human ensembl 74_37 +1 known nonsense c.2025 p.W675* 0.914 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC ENSG00000182504 tier1 - - 121 0 0.00 147 16 9.82 CES2 0 genome.wustl.edu 37 16 66974419 66974419 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 66974419 66974419 G A SNP CES2 ENST00000317091 human ensembl 74_37 +1 known missense c.829 p.A277T 0.400 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES2 HGNC ENSG00000172831 tier1 - - 113 0 0.00 90 23 20.35 CES5AP1 0 genome.wustl.edu 37 22 23708503 23708503 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 23708503 23708503 C T SNP CES5AP1 ENST00000422151 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors CES5AP1 HGNC ENSG00000215478 tier1 - - 17 0 0.00 27 8 22.86 CETN3 0 genome.wustl.edu 37 5 89701581 89701581 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 89701581 89701581 T - DEL CETN3 ENST00000283122 human ensembl 74_37 -1 known frame_shift_del c.189 p.A64fs 1.000 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN3 HGNC ENSG00000153140 tier1 56 0 0.00 64 19 22.89 CFP 0 genome.wustl.edu 37 X 47485836 47485836 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 47485836 47485836 C T SNP CFP ENST00000247153 human ensembl 74_37 -1 known silent c.1023 p.P341 0.090 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors CFP HGNC ENSG00000126759 tier1 - - 62 0 0.00 40 19 32.20 CHAF1B 0 genome.wustl.edu 37 21 37781728 37781728 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 37781728 37781728 C T SNP CHAF1B ENST00000314103 human ensembl 74_37 +1 known missense c.884 p.P295L 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B - no_errors CHAF1B HGNC ENSG00000159259 tier1 - - 380 0 0.00 287 63 18.00 CHCHD5 0 genome.wustl.edu 37 2 113346506 113346507 + RNA INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 113346506 113346507 - C INS CHCHD5 ENST00000469030 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors CHCHD5 HGNC ENSG00000125611 tier1 22 0 0.00 16 2 11.11 CHD1 0 genome.wustl.edu 37 5 98236745 98236745 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 98236745 98236745 T - DEL CHD1 ENST00000284049 human ensembl 74_37 -1 known frame_shift_del c.629 p.K210fs 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 tier1 48 0 0.00 54 15 21.74 CHD4 0 genome.wustl.edu 37 12 6702659 6702659 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 6702659 6702659 G A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.2437 p.R813C 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 tier1 - - 119 0 0.00 133 25 15.82 CHD9 0 genome.wustl.edu 37 16 53279640 53279640 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 53279640 53279640 G A SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.3332 p.R1111Q 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 tier1 - - 49 0 0.00 43 22 33.85 CHI3L1 0 genome.wustl.edu 37 1 203148963 203148963 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 203148963 203148963 C T SNP CHI3L1 ENST00000255409 human ensembl 74_37 -1 known missense c.937 p.G313S 0.002 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC ENSG00000133048 tier1 rs148946875 - 116 0 0.00 97 34 25.95 CHID1 0 genome.wustl.edu 37 11 903005 903005 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 903005 903005 C T SNP CHID1 ENST00000323541 human ensembl 74_37 -1 known missense c.308 p.R103Q 0.129 NULL pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHID1 HGNC ENSG00000177830 tier1 - - 57 0 0.00 57 12 17.39 CHML 0 genome.wustl.edu 37 1 241798086 241798087 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 241798086 241798087 - T INS CHML ENST00000366553 human ensembl 74_37 -1 known frame_shift_ins c.983_982 p.T328fs 1.000:1.000 pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHML HGNC ENSG00000203668 tier1 95 0 0.00 125 23 15.54 CHMP5 0 genome.wustl.edu 37 9 33280824 33280824 + Nonstop_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 33280824 33280824 T C SNP CHMP5 ENST00000419016 human ensembl 74_37 +1 known nonstop c.514 p.*172R 1.000 NULL pfam_Snf7 - no_errors CHMP5 HGNC ENSG00000086065 tier1 - - 53 0 0.00 94 29 23.58 CHRDL1 0 genome.wustl.edu 37 X 109964642 109964642 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 109964642 109964642 G A SNP CHRDL1 ENST00000372042 human ensembl 74_37 -1 known missense c.418 p.P140S 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL1 HGNC ENSG00000101938 tier1 - - 404 0 0.00 394 123 23.79 CHRM3 0 genome.wustl.edu 37 1 240072444 240072444 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 240072444 240072444 A - DEL CHRM3 ENST00000255380 human ensembl 74_37 +1 known frame_shift_del c.1693 p.K567fs 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 tier1 80 0 0.00 70 11 13.58 CHRNA6 0 genome.wustl.edu 37 8 42611529 42611529 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 42611529 42611529 T - DEL CHRNA6 ENST00000276410 human ensembl 74_37 -1 known frame_shift_del c.813 p.V272fs 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA6 HGNC ENSG00000147434 tier1 77 0 0.00 85 12 12.37 CHRND 0 genome.wustl.edu 37 2 233398937 233398937 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 233398937 233398937 G A SNP CHRND ENST00000258385 human ensembl 74_37 +1 known missense c.1256 p.R419Q 0.025 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRND HGNC ENSG00000135902 tier1 - - 53 0 0.00 59 14 19.18 CHRNE 0 genome.wustl.edu 37 17 4804122 4804122 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 4804122 4804122 G A SNP CHRNE ENST00000293780 human ensembl 74_37 -1 known missense c.883 p.P295S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNE HGNC ENSG00000108556 tier1 rs61735425 - 36 0 0.00 59 15 20.27 CHST5 0 genome.wustl.edu 37 16 75563882 75563882 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 75563882 75563882 G T SNP CHST5 ENST00000541075 human ensembl 74_37 -1 known missense c.419 p.P140Q 0.987 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 tier1 - - 178 0 0.00 122 25 17.01 CIR1 0 genome.wustl.edu 37 2 175213408 175213408 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 175213408 175213408 G A SNP CIR1 ENST00000342016 human ensembl 74_37 -1 known silent c.1170 p.S390 0.991 NULL pfam_CIR_N_dom,superfamily_Znf_CCHC - no_errors CIR1 HGNC ENSG00000138433 tier1 - - 179 0 0.00 142 45 23.94 CKAP2 0 genome.wustl.edu 37 13 53049034 53049034 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 53049034 53049034 A - DEL CKAP2 ENST00000378037 human ensembl 74_37 +1 known frame_shift_del c.1810 p.K606fs 0.999 NULL NULL - no_errors CKAP2 HGNC ENSG00000136108 tier1 35 0 0.00 18 9 33.33 CKS1B 0 genome.wustl.edu 37 1 154950476 154950476 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 154950476 154950476 C T SNP CKS1B ENST00000308987 human ensembl 74_37 +1 known missense c.73 p.P25S 1.000 pfam_Cyclin-dep_kinase_reg-sub,superfamily_Cyclin-dep_kinase_reg-sub,prints_Cyclin-dep_kinase_reg-sub pfam_Cyclin-dep_kinase_reg-sub,superfamily_Cyclin-dep_kinase_reg-sub,prints_Cyclin-dep_kinase_reg-sub - no_errors CKS1B HGNC ENSG00000173207 tier1 - - 84 0 0.00 57 13 18.57 CLASP2 0 genome.wustl.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 33602361 33602361 T - DEL CLASP2 ENST00000399362 human ensembl 74_37 -1 known frame_shift_del c.2890 p.M964fs 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 tier1 123 0 0.00 149 35 19.02 CLDN6 0 genome.wustl.edu 37 16 3065456 3065456 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 3065456 3065456 C - DEL CLDN6 ENST00000328796 human ensembl 74_37 -1 known frame_shift_del c.567 p.S190fs 0.007 prints_Claudin6 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6 - no_errors CLDN6 HGNC ENSG00000184697 tier1 65 0 0.00 68 16 19.05 CLEC4G 0 genome.wustl.edu 37 19 7794352 7794352 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 7794352 7794352 C T SNP CLEC4G ENST00000328853 human ensembl 74_37 -1 known missense c.782 p.R261H 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4G HGNC ENSG00000182566 tier1 - - 66 0 0.00 56 19 25.33 CLIC6 0 genome.wustl.edu 37 21 36081085 36081085 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 36081085 36081085 G A SNP CLIC6 ENST00000360731 human ensembl 74_37 +1 known silent c.1752 p.T584 0.879 superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC6 HGNC ENSG00000159212 tier1 - - 39 0 0.00 34 18 34.62 CLMP 0 genome.wustl.edu 37 11 122944457 122944457 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 122944457 122944457 G A SNP CLMP ENST00000448775 human ensembl 74_37 -1 known missense c.847 p.R283C 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD47_Vset,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CLMP HGNC ENSG00000166250 tier1 - - 125 0 0.00 117 27 18.75 CLTC 0 genome.wustl.edu 37 17 57741235 57741235 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 57741235 57741235 G A SNP CLTC ENST00000269122 human ensembl 74_37 +1 known silent c.1401 p.V467 1.000 superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 tier1 - - 104 0 0.00 107 9 7.76 CLUH 0 genome.wustl.edu 37 17 2594033 2594033 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 2594033 2594033 C T SNP CLUH ENST00000435359 human ensembl 74_37 -1 known missense c.3785 p.R1262Q 1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 tier1 - - 70 0 0.00 83 10 10.75 CLUH 0 genome.wustl.edu 37 17 2601712 2601713 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 2601712 2601713 - C INS CLUH ENST00000435359 human ensembl 74_37 -1 known frame_shift_ins c.1325_1324 p.D442fs 1.000:1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 tier1 63 0 0.00 57 14 19.72 CMYA5 0 genome.wustl.edu 37 5 79033022 79033022 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 79033022 79033022 C A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.8434 p.L2812M 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 44 0 0.00 34 9 20.93 CMYA5 0 genome.wustl.edu 37 5 79058947 79058947 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 79058947 79058947 C T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known nonsense c.11470 p.R3824* 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 33 0 0.00 30 10 25.00 CNGA2 0 genome.wustl.edu 37 X 150912333 150912333 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 150912333 150912333 G A SNP CNGA2 ENST00000329903 human ensembl 74_37 +1 known missense c.1358 p.R453H 0.999 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 tier1 rs201053120 - 110 0 0.00 121 34 21.94 CNGA2 0 genome.wustl.edu 37 X 150912589 150912589 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 150912589 150912589 T C SNP CNGA2 ENST00000329903 human ensembl 74_37 +1 known silent c.1614 p.A538 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 tier1 - - 204 0 0.00 154 46 23.00 CNKSR1 0 genome.wustl.edu 37 1 26511555 26511555 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 26511555 26511555 C A SNP CNKSR1 ENST00000374253 human ensembl 74_37 +1 known silent c.1207 p.R403 0.748 pfscan_Pleckstrin_homology 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 - - 28 0 0.00 18 5 21.74 CNKSR2 0 genome.wustl.edu 37 X 21627557 21627558 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 21627557 21627558 - G INS CNKSR2 ENST00000379510 human ensembl 74_37 +1 known frame_shift_ins c.2514_2515 p.K840fs 0.990:1.000 NULL pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 tier1 93 0 0.00 105 32 23.36 CNTN2 0 genome.wustl.edu 37 1 205038678 205038678 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 205038678 205038678 G A SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known missense c.2185 p.V729I 0.904 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 tier1 - - 38 0 0.00 38 19 33.33 CNTN3 0 genome.wustl.edu 37 3 74548935 74548935 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 74548935 74548935 A G SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known silent c.57 p.G19 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 tier1 - - 92 0 0.00 95 11 10.38 CNTN4 0 genome.wustl.edu 37 3 3067876 3067876 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 3067876 3067876 C T SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.1577 p.S526L 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 tier1 - - 47 0 0.00 53 10 15.87 CNTN6 0 genome.wustl.edu 37 3 1414122 1414122 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 1414122 1414122 A - DEL CNTN6 ENST00000350110 human ensembl 74_37 +1 known frame_shift_del c.1632 p.G547fs 0.311 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN6 HGNC ENSG00000134115 tier1 47 0 0.00 51 15 22.73 CNTROB 0 genome.wustl.edu 37 17 7843518 7843519 + Frame_Shift_Del DEL GA GA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 7843518 7843519 GA 0 DEL CNTROB ENST00000380262 human ensembl 74_37 +1 known frame_shift_del c.1269_1270 p.D427fs 1.000:0.999 NULL NULL - no_errors CNTROB HGNC ENSG00000170037 123 0 0.00 142 11 7.19 COASY 0 genome.wustl.edu 37 17 40716115 40716115 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 40716115 40716115 C - DEL COASY ENST00000590958 human ensembl 74_37 +1 known frame_shift_del c.924 p.S310fs 1.000 pfam_Cyt_trans-like pfam_Depp_CoAkinase,pfam_Cyt_trans-like,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase - no_errors COASY HGNC ENSG00000068120 tier1 52 0 0.00 46 21 31.34 COIL 0 genome.wustl.edu 37 17 55028016 55028016 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 55028016 55028016 T - DEL COIL ENST00000240316 human ensembl 74_37 -1 known frame_shift_del c.587 p.K196fs 0.030 NULL NULL - no_errors COIL HGNC ENSG00000121058 tier1 93 0 0.00 80 30 27.27 COL10A1 0 genome.wustl.edu 37 6 116442817 116442817 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 116442817 116442817 C T SNP COL10A1 ENST00000243222 human ensembl 74_37 -1 known silent c.462 p.V154 0.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL10A1 HGNC ENSG00000123500 tier1 - - 34 0 0.00 40 13 24.53 COL12A1 0 genome.wustl.edu 37 6 75855072 75855072 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 75855072 75855072 T C SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.4660 p.S1554G 0.997 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 26 0 0.00 22 7 24.14 COL21A1 0 genome.wustl.edu 37 6 55925689 55925689 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 55925689 55925689 G A SNP COL21A1 ENST00000244728 human ensembl 74_37 -1 known silent c.2352 p.P784 0.321 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 tier1 rs200674177 - 37 0 0.00 39 12 23.53 COL22A1 0 genome.wustl.edu 37 8 139890197 139890197 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 139890197 139890197 C T SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.454 p.G152S 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 tier1 - - 10 0 0.00 33 8 19.51 COL2A1 0 genome.wustl.edu 37 12 48387250 48387250 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 48387250 48387250 C T SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known silent c.960 p.P320 0.767 NULL 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 rs138806868 - 63 0 0.00 64 15 18.99 COL5A2 0 genome.wustl.edu 37 2 189916092 189916092 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 189916092 189916092 G - DEL COL5A2 ENST00000374866 human ensembl 74_37 -1 known frame_shift_del c.2885 p.P962fs 1.000 NULL 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 COL5A2 HGNC ENSG00000204262 tier1 74 0 0.00 83 15 15.31 COL5A2 0 genome.wustl.edu 37 2 189923219 189923219 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 189923219 189923219 G T SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known missense c.2165 p.P722H 0.996 NULL 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 COL5A2 HGNC ENSG00000204262 tier1 - - 53 0 0.00 58 10 14.71 COL6A3 0 genome.wustl.edu 37 2 238268729 238268729 + Splice_Site SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 238268729 238268729 A G SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known splice_site c.6282+2 e16+2 1.000 - - - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 45 0 0.00 45 8 15.09 COL7A1 0 genome.wustl.edu 37 3 48627680 48627681 + Frame_Shift_Del DEL CT CT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 48627680 48627681 CT - DEL COL7A1 ENST00000328333 human ensembl 74_37 -1 known frame_shift_del c.2016_2015 p.E672fs 0.544:0.979 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 tier1 49 0 0.00 40 11 21.57 COL9A2 0 genome.wustl.edu 37 1 40773388 40773388 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 40773388 40773388 G A SNP COL9A2 ENST00000372748 human ensembl 74_37 -1 known missense c.941 p.T314M 0.927 NULL pfam_Collagen - no_errors COL9A2 HGNC ENSG00000049089 tier1 - - 41 0 0.00 49 16 24.62 COL9A2 0 genome.wustl.edu 37 1 40779936 40779936 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 40779936 40779936 G A SNP COL9A2 ENST00000372748 human ensembl 74_37 -1 known missense c.190 p.P64S 0.217 pfam_Collagen pfam_Collagen - no_errors COL9A2 HGNC ENSG00000049089 tier1 - - 157 0 0.00 159 38 19.29 COPE 0 genome.wustl.edu 37 19 19021893 19021893 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 19021893 19021893 C T SNP COPE ENST00000597646 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors COPE HGNC ENSG00000105669 tier1 - - 81 0 0.00 80 21 20.79 COPS2 0 genome.wustl.edu 37 15 49426002 49426002 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 49426002 49426002 G A SNP COPS2 ENST00000299259 human ensembl 74_37 -1 known missense c.922 p.P308S 1.000 smart_PAM pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors COPS2 HGNC ENSG00000166200 19 0 0.00 29 4 12.12 COQ3 0 genome.wustl.edu 37 6 99824049 99824049 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 99824049 99824049 G A SNP COQ3 ENST00000254759 human ensembl 74_37 -1 known missense c.496 p.R166W 0.995 pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase - no_errors COQ3 HGNC ENSG00000132423 tier1 - - 62 0 0.00 48 18 27.27 CPEB1 0 genome.wustl.edu 37 15 83296089 83296089 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 83296089 83296089 G A SNP CPEB1 ENST00000562019 human ensembl 74_37 -1 known silent c.45 p.C15 1.000 NULL pfscan_RRM_dom - no_errors CPEB1 HGNC ENSG00000214575 tier1 - - 43 0 0.00 47 12 20.34 CPLX3 0 genome.wustl.edu 37 15 75122597 75122597 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 75122597 75122597 G A SNP CPLX3 ENST00000395018 human ensembl 74_37 +1 known missense c.379 p.A127T 0.980 pfam_Synaphin pfam_Synaphin - no_errors CPLX3 HGNC ENSG00000213578 tier1 - - 90 0 0.00 79 6 7.06 CPQ 0 genome.wustl.edu 37 8 97797388 97797388 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 97797388 97797388 T C SNP CPQ ENST00000220763 human ensembl 74_37 +1 known missense c.263 p.I88T 1.000 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 tier1 - - 69 0 0.00 109 17 13.49 CPS1 0 genome.wustl.edu 37 2 211464179 211464179 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 211464179 211464179 T C SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known silent c.1461 p.T487 0.107 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 tier1 - - 77 0 0.00 88 31 26.05 CPT1C 0 genome.wustl.edu 37 19 50200614 50200615 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 50200614 50200615 - C INS CPT1C ENST00000323446 human ensembl 74_37 +1 known frame_shift_ins c.173_174 p.L60fs 1.000:1.000 NULL pfam_Carn_acyl_trans - no_errors CPT1C HGNC ENSG00000169169 tier1 64 0 0.00 73 22 23.16 CREBBP 0 genome.wustl.edu 37 16 3781324 3781326 + In_Frame_Del DEL AGG AGG - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 3781324 3781326 AGG - DEL CREBBP ENST00000262367 human ensembl 74_37 -1 known in_frame_del c.5041_5039 p.S1680in_frame_del 0.602:0.536:1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 tier1 41 0 0.00 40 4 9.09 CREBBP 0 genome.wustl.edu 37 16 3817721 3817721 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 3817721 3817721 T - DEL CREBBP ENST00000262367 human ensembl 74_37 -1 known frame_shift_del c.3250 p.I1084fs 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 tier1 107 0 0.00 99 27 21.43 CRK 0 genome.wustl.edu 37 17 1326755 1326757 + RNA DEL AAA AAA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 1326755 1326757 AAA - DEL CRK ENST00000572145 human ensembl 74_37 -1 known rna NULL NULL 0.352:0.023:0.010 - - - no_errors CRK HGNC ENSG00000167193 tier1 40 0 0.00 45 13 22.41 CRLF3 0 genome.wustl.edu 37 17 29111392 29111392 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 29111392 29111392 G A SNP CRLF3 ENST00000324238 human ensembl 74_37 -1 known missense c.1142 p.T381M 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF3 HGNC ENSG00000176390 tier1 - - 56 0 0.00 46 13 22.03 CRMP1 0 genome.wustl.edu 37 4 5827286 5827286 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 5827286 5827286 G T SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known missense c.1904 p.S635Y 0.997 NULL pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 tier1 - - 79 0 0.00 69 30 30.30 CRNKL1 0 genome.wustl.edu 37 20 20024141 20024143 + In_Frame_Del DEL CTT CTT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 20024141 20024143 CTT - DEL CRNKL1 ENST00000377340 human ensembl 74_37 -1 known in_frame_del c.1450_1448 p.E483in_frame_del 1.000:0.993:1.000 NULL pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 tier1 187 0 0.00 194 37 16.02 CROCCP2 0 genome.wustl.edu 37 1 16952905 16952905 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 16952905 16952905 G A SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.977 - - - no_errors CROCCP2 HGNC ENSG00000215908 tier1 rs56357261 - 92 0 0.00 93 8 7.92 CRP 0 genome.wustl.edu 37 1 159683406 159683406 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 159683406 159683406 C T SNP CRP ENST00000255030 human ensembl 74_37 -1 known missense c.584 p.G195D 0.009 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors CRP HGNC ENSG00000132693 tier1 - - 103 0 0.00 127 28 18.06 CRTC2 0 genome.wustl.edu 37 1 153923904 153923904 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 153923904 153923904 G A SNP CRTC2 ENST00000368633 human ensembl 74_37 -1 known silent c.1236 p.G412 0.519 NULL NULL - no_errors CRTC2 HGNC ENSG00000160741 tier1 rs201148360 - 23 0 0.00 18 4 18.18 CSF2RA 0 genome.wustl.edu 37 X 1404703 1404703 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 1404703 1404703 A G SNP CSF2RA ENST00000417535 human ensembl 74_37 +1 known missense c.109 p.N37D 0.002 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 tier1 - - 146 0 0.00 147 46 23.83 CSNK1G3 0 genome.wustl.edu 37 5 122926250 122926250 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 122926250 122926250 T C SNP CSNK1G3 ENST00000360683 human ensembl 74_37 +1 known silent c.988 p.L330 1.000 pfam_Casein_kinase-1_gamma_C pfam_Prot_kinase_dom,pfam_Casein_kinase-1_gamma_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1G3 HGNC ENSG00000151292 tier1 - - 86 0 0.00 106 31 22.63 CSNK1G3 0 genome.wustl.edu 37 5 122941058 122941058 + Splice_Site SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 122941058 122941058 T C SNP CSNK1G3 ENST00000360683 human ensembl 74_37 +1 known splice_site c.1313+2 e12+2 1.000 - - - no_errors CSNK1G3 HGNC ENSG00000151292 tier1 - - 27 0 0.00 37 12 24.00 CTAGE1 0 genome.wustl.edu 37 18 19995706 19995706 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 19995706 19995706 G - DEL CTAGE1 ENST00000391403 human ensembl 74_37 -1 known frame_shift_del c.2069 p.P690fs 0.300 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 tier1 119 0 0.00 156 30 16.13 CTBP1 0 genome.wustl.edu 37 4 1231910 1231910 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 1231910 1231910 C T SNP CTBP1 ENST00000510568 human ensembl 74_37 -1 putative missense c.223 p.G75R 0.000 NULL NULL - no_errors CTBP1 HGNC ENSG00000159692 tier1 - - 65 0 0.00 77 7 8.33 CTCF 0 genome.wustl.edu 37 16 67662368 67662368 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 67662368 67662368 C T SNP CTCF ENST00000264010 human ensembl 74_37 +1 known silent c.1614 p.L538 0.511 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 tier1 - - 141 0 0.00 122 36 22.78 CTH 0 genome.wustl.edu 37 1 70904442 70904442 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 70904442 70904442 G A SNP CTH ENST00000370938 human ensembl 74_37 +1 known missense c.1124 p.R375Q 1.000 pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,pirsf_Cys/Met-Metab_PyrdxlP-dep_enz pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cys/Met-Metab_PyrdxlP-dep_enz - no_errors CTH HGNC ENSG00000116761 tier1 - - 112 0 0.00 95 22 18.80 CTIF 0 genome.wustl.edu 37 18 46343596 46343596 + Missense_Mutation SNP A A T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 46343596 46343596 A T SNP CTIF ENST00000382998 human ensembl 74_37 +1 known missense c.1382 p.D461V 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 tier1 - - 39 0 0.00 45 10 18.18 CTNNA1 0 genome.wustl.edu 37 5 138160240 138160240 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 138160240 138160240 C T SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known missense c.610 p.R204C 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 tier1 - - 34 0 0.00 47 9 16.07 CTNNA2 0 genome.wustl.edu 37 2 80808939 80808939 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 80808939 80808939 G A SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.2104 p.A702T 1.000 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 tier1 - - 50 0 0.00 31 16 34.04 CTNNBL1 0 genome.wustl.edu 37 20 36488707 36488707 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 36488707 36488707 C T SNP CTNNBL1 ENST00000405275 human ensembl 74_37 +1 known nonsense c.1483 p.R495* 1.000 NULL pfam_CTNNBL1_N,superfamily_ARM-type_fold - no_errors CTNNBL1 HGNC ENSG00000132792 tier1 - - 123 0 0.00 158 14 8.14 CTNND2 0 genome.wustl.edu 37 5 11565071 11565071 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 11565071 11565071 C T SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.272 p.S91N 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 tier1 - - 44 0 0.00 29 8 21.62 CTSC 0 genome.wustl.edu 37 11 88027629 88027629 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 88027629 88027629 C T SNP CTSC ENST00000227266 human ensembl 74_37 -1 known missense c.937 p.D313N 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_CathepsinC_exc,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSC HGNC ENSG00000109861 tier1 - - 63 0 0.00 71 15 17.44 CTSH 0 genome.wustl.edu 37 15 79229746 79229746 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 79229746 79229746 G A SNP CTSH ENST00000220166 human ensembl 74_37 -1 known missense c.143 p.T48M 0.000 pfam_Prot_inhib_I29,smart_Prot_inhib_I29 pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSH HGNC ENSG00000103811 tier1 - - 74 0 0.00 77 28 26.67 CTSV 0 genome.wustl.edu 37 9 99797855 99797855 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 99797855 99797855 C T SNP CTSV ENST00000259470 human ensembl 74_37 -1 known missense c.742 p.V248I 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSV HGNC ENSG00000136943 tier1 - - 60 0 0.00 42 10 19.23 CUL1 0 genome.wustl.edu 37 7 148454074 148454074 + Splice_Site SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 148454074 148454074 G T SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known splice_site c.316-1 e3-1 1.000 - - - no_errors CUL1 HGNC ENSG00000055130 tier1 - - 78 0 0.00 77 16 17.20 CUL4A 0 genome.wustl.edu 37 13 113899470 113899470 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 113899470 113899470 C T SNP CUL4A ENST00000375440 human ensembl 74_37 +1 known silent c.1449 p.C483 0.991 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4A HGNC ENSG00000139842 tier1 - - 59 0 0.00 43 14 24.56 CUL9 0 genome.wustl.edu 37 6 43153719 43153719 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 43153719 43153719 G A SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known silent c.777 p.L259 1.000 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 tier1 - - 75 0 0.00 54 20 27.03 CWF19L1 0 genome.wustl.edu 37 10 101992924 101992926 + RNA DEL AAA AAA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 101992924 101992926 AAA - DEL CWF19L1 ENST00000468709 human ensembl 74_37 -1 known rna NULL NULL 0.167:0.180:0.200 - - - no_errors CWF19L1 HGNC ENSG00000095485 tier1 51 0 0.00 53 15 22.06 CWF19L1 0 genome.wustl.edu 37 10 101997853 101997853 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 101997853 101997853 G A SNP CWF19L1 ENST00000354105 human ensembl 74_37 -1 known missense c.1180 p.R394W 0.996 pfam_Cwf19-like_C_dom-1,superfamily_HIT-like pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L1 HGNC ENSG00000095485 tier1 - - 156 0 0.00 172 56 24.56 CWF19L2 0 genome.wustl.edu 37 11 107299981 107299981 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 107299981 107299981 T - DEL CWF19L2 ENST00000282251 human ensembl 74_37 -1 known frame_shift_del c.977 p.N326fs 0.000 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 tier1 40 0 0.00 30 9 23.08 CWH43 0 genome.wustl.edu 37 4 49005981 49005981 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 49005981 49005981 C T SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known silent c.1032 p.Y344 0.904 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 tier1 rs151323921 - 24 0 0.00 32 5 13.51 CXXC4 0 genome.wustl.edu 37 4 105393330 105393331 + RNA DEL TT TT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 105393330 105393331 TT - DEL CXXC4 ENST00000466963 human ensembl 74_37 -1 known rna NULL NULL 0.073:0.076 - - - no_errors CXXC4 HGNC ENSG00000168772 tier1 9 0 0.00 10 3 23.08 CXorf22 0 genome.wustl.edu 37 X 35937997 35937997 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 35937997 35937997 C T SNP CXorf22 ENST00000297866 human ensembl 74_37 +1 known silent c.81 p.V27 0.000 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 tier1 - - 33 0 0.00 30 8 21.05 CXorf57 0 genome.wustl.edu 37 X 105876387 105876387 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 105876387 105876387 G A SNP CXorf57 ENST00000372548 human ensembl 74_37 +1 known missense c.1208 p.R403H 1.000 superfamily_NA-bd_OB-fold superfamily_NA-bd_OB-fold - no_errors CXorf57 HGNC ENSG00000147231 tier1 - - 85 0 0.00 106 26 19.70 CYFIP1 0 genome.wustl.edu 37 15 22999391 22999391 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 22999391 22999391 G A SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known missense c.3263 p.C1088Y 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 tier1 - - 69 0 0.00 62 20 24.39 CYFIP2 0 genome.wustl.edu 37 5 156731361 156731362 + Frame_Shift_Del DEL AT AT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 156731361 156731362 AT - DEL CYFIP2 ENST00000318218 human ensembl 74_37 +1 known frame_shift_del c.782_783 p.M262fs 1.000:1.000 pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 tier1 99 0 0.00 82 16 16.33 CYFIP2 0 genome.wustl.edu 37 5 156819995 156819995 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 156819995 156819995 C T SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.3824 p.A1275V 1.000 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 tier1 - - 65 0 0.00 59 13 18.06 CYP11B2 0 genome.wustl.edu 37 8 143994862 143994862 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 143994862 143994862 C T SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known silent c.960 p.A320 0.056 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 tier1 - - 123 0 0.00 210 35 14.29 CYP2S1 0 genome.wustl.edu 37 19 41704642 41704642 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 41704642 41704642 G A SNP CYP2S1 ENST00000310054 human ensembl 74_37 +1 known missense c.683 p.R228Q 0.009 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC ENSG00000167600 tier1 rs202081575 - 157 0 0.00 132 38 22.35 CYP4F22 0 genome.wustl.edu 37 19 15648369 15648369 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 15648369 15648369 G T SNP CYP4F22 ENST00000269703 human ensembl 74_37 +1 known missense c.445 p.G149C 0.985 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F22 HGNC ENSG00000171954 tier1 - - 90 0 0.00 88 22 20.00 CYTH3 0 genome.wustl.edu 37 7 6204577 6204578 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 6204577 6204578 - T INS CYTH3 ENST00000350796 human ensembl 74_37 -1 known frame_shift_ins c.1198_1197 p.*399fs 1.000:1.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH3 HGNC ENSG00000008256 tier1 505 0 0.00 499 118 19.12 DAAM1 0 genome.wustl.edu 37 14 59730277 59730277 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 59730277 59730277 T C SNP DAAM1 ENST00000351081 human ensembl 74_37 +1 known missense c.82 p.Y28H 0.999 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DAAM1 HGNC ENSG00000100592 tier1 - - 87 0 0.00 94 12 11.32 DAAM1 0 genome.wustl.edu 37 14 59790880 59790880 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 59790880 59790880 G A SNP DAAM1 ENST00000351081 human ensembl 74_37 +1 known missense c.809 p.R270Q 1.000 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DAAM1 HGNC ENSG00000100592 tier1 - - 74 0 0.00 90 10 10.00 DAAM1 0 genome.wustl.edu 37 14 59835592 59835592 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 59835592 59835592 T - DEL DAAM1 ENST00000553966 human ensembl 74_37 +1 known rna NULL NULL 0.059 - - - no_errors DAAM1 HGNC ENSG00000100592 tier1 25 0 0.00 25 4 13.79 DACH2 0 genome.wustl.edu 37 X 86069720 86069720 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 86069720 86069720 A - DEL DACH2 ENST00000373125 human ensembl 74_37 +1 known frame_shift_del c.1567 p.T525fs 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 tier1 33 0 0.00 29 6 17.14 DACT1 0 genome.wustl.edu 37 14 59112383 59112383 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 59112383 59112383 A 0 DEL DACT1 ENST00000335867 human ensembl 74_37 +1 known frame_shift_del c.1042 p.T350fs 1.000 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 36 0 0.00 58 10 14.71 DAPK1 0 genome.wustl.edu 37 9 90321802 90321802 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 90321802 90321802 G - DEL DAPK1 ENST00000469640 human ensembl 74_37 +1 known frame_shift_del c.3891 p.Y1300fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 tier1 69 0 0.00 77 11 12.50 DAPK3 0 genome.wustl.edu 37 19 3959300 3959300 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 3959300 3959300 G A SNP DAPK3 ENST00000301264 human ensembl 74_37 -1 known silent c.1164 p.T388 0.169 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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 DAPK3 HGNC ENSG00000167657 tier1 - - 25 0 0.00 25 5 16.67 DAXX 0 genome.wustl.edu 37 6 33288873 33288873 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 33288873 33288873 G A SNP DAXX ENST00000266000 human ensembl 74_37 -1 known missense c.679 p.R227W 0.994 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC ENSG00000204209 tier1 - - 48 0 0.00 50 17 25.37 DCAF10 0 genome.wustl.edu 37 9 37861380 37861380 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 37861380 37861380 C T SNP DCAF10 ENST00000377724 human ensembl 74_37 +1 known missense c.1555 p.R519W 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF10 HGNC ENSG00000122741 tier1 - - 91 0 0.00 91 20 18.02 DCAF11 0 genome.wustl.edu 37 14 24588364 24588364 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 24588364 24588364 C T SNP DCAF11 ENST00000446197 human ensembl 74_37 +1 known missense c.790 p.R264C 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors DCAF11 HGNC ENSG00000100897 tier1 - - 131 0 0.00 166 40 19.23 DCBLD2 0 genome.wustl.edu 37 3 98538142 98538143 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 98538142 98538143 - T INS DCBLD2 ENST00000326857 human ensembl 74_37 -1 known frame_shift_ins c.991_990 p.A330fs 1.000:1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 tier1 28 0 0.00 29 9 23.68 DCDC1 0 genome.wustl.edu 37 11 30937104 30937104 + Nonsense_Mutation SNP T T A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 30937104 30937104 T A SNP DCDC1 ENST00000339794 human ensembl 74_37 -1 known nonsense c.844 p.K282* 0.975 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 88 0 0.00 131 19 12.67 DCSTAMP 0 genome.wustl.edu 37 8 105360772 105360772 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 105360772 105360772 G A SNP DCSTAMP ENST00000517364 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors DCSTAMP HGNC ENSG00000164935 tier1 - - 56 0 0.00 79 17 17.71 DCUN1D1 0 genome.wustl.edu 37 3 182683528 182683528 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 182683528 182683528 G - DEL DCUN1D1 ENST00000292782 human ensembl 74_37 -1 known frame_shift_del c.17 p.S6fs 1.000 superfamily_UBA-like pfam_PONY_dom,superfamily_UBA-like - no_errors DCUN1D1 HGNC ENSG00000043093 tier1 44 0 0.00 70 12 14.63 DDB1 0 genome.wustl.edu 37 11 61090508 61090508 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 61090508 61090508 C T SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known missense c.980 p.R327H 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 tier1 - - 23 0 0.00 19 5 20.83 DDX10 0 genome.wustl.edu 37 11 108544239 108544239 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 108544239 108544239 A - DEL DDX10 ENST00000322536 human ensembl 74_37 +1 known frame_shift_del c.232 p.T80fs 0.988 pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX10 HGNC ENSG00000178105 tier1 30 0 0.00 36 9 20.00 DDX4 0 genome.wustl.edu 37 5 55094298 55094298 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 55094298 55094298 T C SNP DDX4 ENST00000505374 human ensembl 74_37 +1 known missense c.1514 p.V505A 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX4 HGNC ENSG00000152670 tier1 - - 97 0 0.00 116 40 25.64 DDX49 0 genome.wustl.edu 37 19 19032503 19032503 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 19032503 19032503 C T SNP DDX49 ENST00000247003 human ensembl 74_37 +1 known missense c.271 p.R91W 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX49 HGNC ENSG00000105671 tier1 - - 146 0 0.00 110 28 20.29 DDX52 0 genome.wustl.edu 37 17 35988718 35988719 + Splice_Site INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 35988718 35988719 - A INS DDX52 ENST00000349699 human ensembl 74_37 -1 known splice_site_ins c.748-3_748-2 e6-2 1.000:0.984 - - - no_errors DDX52 HGNC ENSG00000141141 tier1 47 0 0.00 59 11 15.71 DDX58 0 genome.wustl.edu 37 9 32488795 32488795 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 32488795 32488795 G A SNP DDX58 ENST00000379883 human ensembl 74_37 -1 known missense c.890 p.A297V 0.898 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 tier1 - - 40 0 0.00 36 8 18.18 DEDD2 0 genome.wustl.edu 37 19 42703739 42703739 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 42703739 42703739 C T SNP DEDD2 ENST00000595337 human ensembl 74_37 -1 known missense c.832 p.V278M 1.000 NULL pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED - no_errors DEDD2 HGNC ENSG00000160570 tier1 - - 69 0 0.00 71 17 19.10 DENND4C 0 genome.wustl.edu 37 9 19296163 19296164 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 19296163 19296164 - T INS DENND4C ENST00000602925 human ensembl 74_37 +1 known frame_shift_ins c.959_960 p.E323fs 1.000:0.998 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 tier1 112 0 0.00 99 18 15.38 DENND4C 0 genome.wustl.edu 37 9 19346176 19346176 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 19346176 19346176 A G SNP DENND4C ENST00000602925 human ensembl 74_37 +1 known missense c.3262 p.K1088E 0.989 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 tier1 - - 125 0 0.00 173 43 19.91 DENND5A 0 genome.wustl.edu 37 11 9225550 9225550 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 9225550 9225550 G A SNP DENND5A ENST00000328194 human ensembl 74_37 -1 known silent c.606 p.Y202 0.965 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 tier1 - - 52 0 0.00 61 13 17.57 DFNA5 0 genome.wustl.edu 37 7 24758713 24758713 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 24758713 24758713 C T SNP DFNA5 ENST00000342947 human ensembl 74_37 -1 known missense c.529 p.E177K 0.958 pfam_Gasdermin pfam_Gasdermin - no_errors DFNA5 HGNC ENSG00000105928 tier1 - - 141 0 0.00 150 48 24.24 DGAT1 0 genome.wustl.edu 37 8 145540261 145540261 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 145540261 145540261 C T SNP DGAT1 ENST00000332324 human ensembl 74_37 -1 known missense c.1423 p.D475N 1.000 NULL pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom - no_errors DGAT1 HGNC ENSG00000185000 tier1 - - 28 0 0.00 32 7 17.95 DGKI 0 genome.wustl.edu 37 7 137269976 137269978 + In_Frame_Del DEL TTC TTC - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 137269976 137269978 TTC 0 DEL DGKI ENST00000288490 human ensembl 74_37 -1 known in_frame_del c.1542_1540 p.E514in_frame_del 0.978:1.000:1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 138 0 0.00 189 20 9.57 DHRS11 0 genome.wustl.edu 37 17 34955380 34955381 + Frame_Shift_Del DEL TG TG - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 34955380 34955381 TG - DEL DHRS11 ENST00000251312 human ensembl 74_37 +1 known frame_shift_del c.483_484 p.V162fs 0.000:0.000 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors DHRS11 HGNC ENSG00000108272 tier1 167 0 0.00 148 30 16.85 DHX34 0 genome.wustl.edu 37 19 47858312 47858312 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 47858312 47858312 G A SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known missense c.722 p.R241H 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 tier1 - - 130 0 0.00 113 38 25.17 DHX34 0 genome.wustl.edu 37 19 47861245 47861247 + In_Frame_Del DEL CCT CCT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 47861245 47861247 CCT - DEL DHX34 ENST00000328771 human ensembl 74_37 +1 known in_frame_del c.1140_1142 p.L382in_frame_del 1.000:1.000:1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 tier1 101 0 0.00 78 12 13.33 DHX36 0 genome.wustl.edu 37 3 154042020 154042020 + Silent SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 154042020 154042020 G T SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known silent c.186 p.I62 0.983 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 tier1 - - 219 0 0.00 212 48 18.46 DHX9 0 genome.wustl.edu 37 1 182828207 182828207 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 182828207 182828207 G T SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known missense c.1095 p.K365N 1.000 NULL pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 tier1 - - 85 0 0.00 131 8 5.76 DIDO1 0 genome.wustl.edu 37 20 61542400 61542400 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 61542400 61542400 G A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.565 p.R189W 0.005 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 tier1 - - 71 0 0.00 63 13 17.11 DIP2A 0 genome.wustl.edu 37 21 47981687 47981687 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 47981687 47981687 C T SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known missense c.4061 p.P1354L 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 tier1 - - 224 0 0.00 240 14 5.51 DISP1 0 genome.wustl.edu 37 1 223177874 223177874 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 223177874 223177874 C T SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel silent c.3135 p.A1045 0.006 pfam_Patched,pfam_MMPL_dom pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 tier1 - - 154 0 0.00 163 69 29.74 DLAT 0 genome.wustl.edu 37 11 111896976 111896976 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 111896976 111896976 G A SNP DLAT ENST00000280346 human ensembl 74_37 +1 known missense c.334 p.E112K 1.000 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_LAT1 - no_errors DLAT HGNC ENSG00000150768 tier1 - - 18 0 0.00 27 9 25.00 DLC1 0 genome.wustl.edu 37 8 12943849 12943849 + Silent SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 12943849 12943849 G T SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known silent c.4416 p.P1472 1.000 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 tier1 - - 114 0 0.00 175 32 15.46 DLEC1 0 genome.wustl.edu 37 3 38104179 38104179 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 38104179 38104179 A - DEL DLEC1 ENST00000346219 human ensembl 74_37 +1 known frame_shift_del c.981 p.N329fs 0.030 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 tier1 73 0 0.00 69 16 18.82 DLEU7 0 genome.wustl.edu 37 13 51417426 51417426 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 51417426 51417426 G A SNP DLEU7 ENST00000504404 human ensembl 74_37 -1 known silent c.357 p.S119 0.999 NULL NULL - no_errors DLEU7 HGNC ENSG00000186047 tier1 - - 23 0 0.00 27 7 20.59 DLGAP2 0 genome.wustl.edu 37 8 1574920 1574920 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 1574920 1574920 A G SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.1217 p.Q406R 1.000 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 11 0 0.00 25 5 16.67 DLL3 0 genome.wustl.edu 37 19 39997957 39997957 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 39997957 39997957 G A SNP DLL3 ENST00000205143 human ensembl 74_37 +1 known missense c.1372 p.G458S 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLL3 HGNC ENSG00000090932 tier1 - - 9 0 0.00 10 5 33.33 DMGDH 0 genome.wustl.edu 37 5 78359538 78359538 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 78359538 78359538 G A SNP DMGDH ENST00000255189 human ensembl 74_37 -1 known silent c.174 p.G58 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors DMGDH HGNC ENSG00000132837 tier1 - - 76 0 0.00 78 21 21.21 DMTN 0 genome.wustl.edu 37 8 21926551 21926552 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 21926551 21926552 - C INS DMTN ENST00000265800 human ensembl 74_37 +1 known frame_shift_ins c.274_275 p.P95fs 1.000:1.000 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors DMTN HGNC ENSG00000158856 tier1 120 0 0.00 211 25 10.59 DMWD 0 genome.wustl.edu 37 19 46289148 46289148 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 46289148 46289148 C - DEL DMWD ENST00000270223 human ensembl 74_37 -1 known frame_shift_del c.1606 p.A536fs 0.041 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMWD HGNC ENSG00000185800 tier1 128 0 0.00 119 14 10.53 DMWD 0 genome.wustl.edu 37 19 46289465 46289465 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 46289465 46289465 C T SNP DMWD ENST00000270223 human ensembl 74_37 -1 known missense c.1289 p.R430H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMWD HGNC ENSG00000185800 tier1 - - 41 0 0.00 19 4 17.39 DNA2 0 genome.wustl.edu 37 10 70182521 70182521 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 70182521 70182521 A - DEL DNA2 ENST00000399180 human ensembl 74_37 -1 known frame_shift_del c.2593 p.S865fs 1.000 superfamily_P-loop_NTPase pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 tier1 43 0 0.00 27 9 25.00 DNAH2 0 genome.wustl.edu 37 17 7734796 7734796 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 7734796 7734796 C - DEL DNAH2 ENST00000389173 human ensembl 74_37 +1 known frame_shift_del c.12548 p.L4185fs 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 tier1 45 0 0.00 46 9 16.36 DNAH3 0 genome.wustl.edu 37 16 20976108 20976108 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 20976108 20976108 A G SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.9098 p.I3033T 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 44 0 0.00 50 18 26.47 DNAH3 0 genome.wustl.edu 37 16 20976633 20976633 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 20976633 20976633 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.8573 p.R2858Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 172 0 0.00 125 21 14.38 DNAH5 0 genome.wustl.edu 37 5 13766156 13766156 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 13766156 13766156 T - DEL DNAH5 ENST00000265104 human ensembl 74_37 -1 known frame_shift_del c.10030 p.S3344fs 0.326 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 116 0 0.00 137 35 20.35 DNAH8 0 genome.wustl.edu 37 6 38952015 38952015 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 38952015 38952015 G A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.12334 p.G4112R 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 tier1 - - 85 0 0.00 80 8 9.09 DNAH9 0 genome.wustl.edu 37 17 11554544 11554544 + Silent SNP T T A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 11554544 11554544 T A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known silent c.2256 p.T752 0.991 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 tier1 - - 90 0 0.00 107 29 21.32 DNAJA2 0 genome.wustl.edu 37 16 46990951 46990951 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 46990951 46990951 G A SNP DNAJA2 ENST00000317089 human ensembl 74_37 -1 known missense c.1229 p.A410V 1.000 NULL pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA2 HGNC ENSG00000069345 tier1 - - 408 0 0.00 465 105 18.42 DNAJB7 0 genome.wustl.edu 37 22 41257115 41257115 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 41257115 41257115 T - DEL DNAJB7 ENST00000307221 human ensembl 74_37 -1 known frame_shift_del c.884 p.K295fs 0.998 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ConA-like_lec_gl_sf,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB7 HGNC ENSG00000172404 tier1 45 0 0.00 64 13 16.88 DNAJC24 0 genome.wustl.edu 37 11 31447909 31447909 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 31447909 31447909 T - DEL DNAJC24 ENST00000524747 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors DNAJC24 HGNC ENSG00000170946 tier1 29 0 0.00 36 12 25.00 DNHD1 0 genome.wustl.edu 37 11 6592532 6592532 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 6592532 6592532 G A SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.13790 p.R4597H 0.777 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 tier1 - - 29 0 0.00 27 5 15.62 DNM1P46 0 genome.wustl.edu 37 15 100340231 100340231 + RNA SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 100340231 100340231 G C SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors DNM1P46 HGNC ENSG00000182397 tier1 rs200874874 - 51 0 0.00 69 6 8.00 DNM1P47 0 genome.wustl.edu 37 15 102294715 102294715 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 102294715 102294715 C T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 13 0 0.00 8 6 42.86 DNTTIP2 0 genome.wustl.edu 37 1 94343012 94343013 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 94343012 94343013 - T INS DNTTIP2 ENST00000436063 human ensembl 74_37 -1 known frame_shift_ins c.479_478 p.T160fs 0.000:0.000 NULL pfam_Fcf2 - no_errors DNTTIP2 HGNC ENSG00000067334 tier1 76 0 0.00 90 20 18.18 DOCK1 0 genome.wustl.edu 37 10 128807014 128807014 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 128807014 128807014 T C SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.1004 p.I335T 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 tier1 - - 9 0 0.00 10 5 33.33 DOCK11 0 genome.wustl.edu 37 X 117727302 117727302 + Splice_Site SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 117727302 117727302 T C SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known splice_site c.2263+2 e20+2 1.000 - - - no_errors DOCK11 HGNC ENSG00000147251 tier1 - - 61 0 0.00 76 27 26.21 DOCK3 0 genome.wustl.edu 37 3 51308301 51308301 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 51308301 51308301 C T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.2411 p.T804I 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 59 0 0.00 81 13 13.83 DOCK5 0 genome.wustl.edu 37 8 25240289 25240289 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 25240289 25240289 C A SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.4126 p.L1376I 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 tier1 - - 24 0 0.00 29 6 17.14 DOT1L 0 genome.wustl.edu 37 19 2216631 2216631 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 2216631 2216631 C T SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known missense c.2275 p.R759C 0.018 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 tier1 - - 131 0 0.00 109 23 17.42 DRD4 0 genome.wustl.edu 37 11 639854 639854 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 639854 639854 T C SNP DRD4 ENST00000176183 human ensembl 74_37 +1 known missense c.605 p.F202S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D4_rcpt,prints_Dopamine_rcpt - no_errors DRD4 HGNC ENSG00000069696 tier1 - - 98 0 0.00 75 21 21.88 DRD5 0 genome.wustl.edu 37 4 9784458 9784458 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 9784458 9784458 G A SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known missense c.805 p.A269T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D5_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 tier1 - - 55 0 0.00 69 13 15.85 DRG2 0 genome.wustl.edu 37 17 17997175 17997175 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 17997175 17997175 G T SNP DRG2 ENST00000225729 human ensembl 74_37 +1 known missense c.113 p.R38L 1.000 NULL pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors DRG2 HGNC ENSG00000108591 tier1 - - 97 0 0.00 86 14 14.00 DSCAM 0 genome.wustl.edu 37 21 41741061 41741061 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 41741061 41741061 G A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.620 p.T207M 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 - - 65 0 0.00 87 13 13.00 DSCAML1 0 genome.wustl.edu 37 11 117374651 117374651 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 117374651 117374651 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.2448 p.H816 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 tier1 - - 111 0 0.00 113 22 16.30 DSG2 0 genome.wustl.edu 37 18 29116384 29116384 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 29116384 29116384 G A SNP DSG2 ENST00000261590 human ensembl 74_37 +1 known missense c.1643 p.R548H 0.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG2 HGNC ENSG00000046604 tier1 - - 30 0 0.00 32 8 20.00 DST 0 genome.wustl.edu 37 6 56484643 56484643 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 56484643 56484643 T - DEL DST ENST00000370765 human ensembl 74_37 -1 known frame_shift_del c.4189 p.T1397fs 0.006 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 tier1 50 0 0.00 77 14 15.38 DSTNP2 0 genome.wustl.edu 37 12 6994519 6994521 + RNA DEL TTT TTT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 6994519 6994521 TTT - DEL DSTNP2 ENST00000602547 human ensembl 74_37 +1 known rna NULL NULL 0.176:0.537:0.600 - - - no_errors DSTNP2 HGNC ENSG00000248593 tier1 29 0 0.00 50 9 15.25 DTX2P1-UPK3BP1-PMS2P11 0 genome.wustl.edu 37 7 76629666 76629666 + RNA DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 76629666 76629666 A 0 DEL DTX2P1-UPK3BP1-PMS2P11 ENST00000579700 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors DTX2P1-UPK3BP1-PMS2P11 HGNC ENSG00000265479 18 0 0.00 23 5 17.86 DUSP10 0 genome.wustl.edu 37 1 221912919 221912919 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 221912919 221912919 C T SNP DUSP10 ENST00000366899 human ensembl 74_37 -1 known silent c.168 p.A56 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP10 HGNC ENSG00000143507 tier1 - - 91 0 0.00 100 39 28.06 DUSP13 0 genome.wustl.edu 37 10 76854516 76854516 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 76854516 76854516 C T SNP DUSP13 ENST00000491677 human ensembl 74_37 -1 known missense c.902 p.R301H 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP13 HGNC ENSG00000079393 tier1 - - 34 0 0.00 53 5 8.62 DUSP8 0 genome.wustl.edu 37 11 1579342 1579342 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 1579342 1579342 C T SNP DUSP8 ENST00000331588 human ensembl 74_37 -1 known missense c.697 p.D233N 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP8 HGNC ENSG00000184545 tier1 - - 368 0 0.00 286 81 22.07 DVL2 0 genome.wustl.edu 37 17 7129420 7129420 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 7129420 7129420 G A SNP DVL2 ENST00000005340 human ensembl 74_37 -1 known nonsense c.1975 p.R659* 1.000 pfam_Dishevelled_C-dom,prints_Dishevelled_2 pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_2,prints_Dishevelled_fam - no_errors DVL2 HGNC ENSG00000004975 tier1 - - 90 0 0.00 72 14 16.28 DVL3 0 genome.wustl.edu 37 3 183888380 183888381 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 183888380 183888381 - C INS DVL3 ENST00000313143 human ensembl 74_37 +1 known frame_shift_ins c.1988_1989 p.M666fs 1.000:0.996 pfam_Dishevelled_C-dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 tier1 40 0 0.00 35 7 16.67 DYNC1H1 0 genome.wustl.edu 37 14 102476415 102476416 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 102476415 102476416 - T INS DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known frame_shift_ins c.6213_6214 p.K2073fs 0.001:0.999 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 65 0 0.00 65 21 24.42 DYNC1H1 0 genome.wustl.edu 37 14 102506020 102506021 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 102506020 102506021 - T INS DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known frame_shift_ins c.11641_11642 p.T3882fs 1.000:1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 188 0 0.00 183 50 21.46 DYNLT1 0 genome.wustl.edu 37 6 159058854 159058856 + In_Frame_Del DEL CTA CTA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CTA CTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 159058854 159058856 CTA 0 DEL DYNLT1 ENST00000367089 human ensembl 74_37 -1 known in_frame_del c.142_140 p.V47in_frame_del 0.762:0.950:0.944 pfam_Tctex pfam_Tctex - no_errors DYNLT1 HGNC ENSG00000146425 87 0 0.00 86 12 12.24 E2F2 0 genome.wustl.edu 37 1 23842929 23842929 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 23842929 23842929 C T SNP E2F2 ENST00000361729 human ensembl 74_37 -1 known missense c.943 p.E315K 0.954 NULL pfam_E2F_TDP - no_errors E2F2 HGNC ENSG00000007968 tier1 - - 20 0 0.00 21 8 27.59 EBAG9 0 genome.wustl.edu 37 8 110575763 110575763 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 110575763 110575763 A C SNP EBAG9 ENST00000531677 human ensembl 74_37 +1 novel missense c.659 p.Q220P 0.000 pirsf_Cancer-assoc_antigen_RCAS1 pirsf_Cancer-assoc_antigen_RCAS1 - no_errors EBAG9 HGNC ENSG00000147654 tier1 - - 78 0 0.00 112 24 17.65 ECHS1 0 genome.wustl.edu 37 10 135179542 135179542 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 135179542 135179542 G A SNP ECHS1 ENST00000368547 human ensembl 74_37 -1 known missense c.677 p.A226V 1.000 NULL pfam_Crotonase_core_superfam - no_errors ECHS1 HGNC ENSG00000127884 tier1 - - 88 0 0.00 74 18 19.57 EDC4 0 genome.wustl.edu 37 16 67909991 67909991 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 67909991 67909991 G A SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known missense c.226 p.E76K 1.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 tier1 - - 86 0 0.00 90 16 15.09 EEF2 0 genome.wustl.edu 37 19 3977591 3977593 + In_Frame_Del DEL CTC CTC - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 3977591 3977593 CTC - DEL EEF2 ENST00000309311 human ensembl 74_37 -1 known in_frame_del c.2085_2083 p.E695in_frame_del 1.000:1.000:1.000 pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 tier1 29 0 0.00 20 5 20.00 EFNA4 0 genome.wustl.edu 37 1 155041454 155041454 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 155041454 155041454 C T SNP EFNA4 ENST00000368409 human ensembl 74_37 +1 known nonsense c.595 p.R199* 0.975 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA4 HGNC ENSG00000243364 tier1 - - 121 0 0.00 93 42 31.11 EFNB3 0 genome.wustl.edu 37 17 7611436 7611436 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 7611436 7611436 C - DEL EFNB3 ENST00000226091 human ensembl 74_37 +1 known frame_shift_del c.283 p.P96fs 0.825 pfam_Ephrin,superfamily_Cupredoxin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB3 HGNC ENSG00000108947 tier1 226 0 0.00 171 37 17.79 EGR1 0 genome.wustl.edu 37 5 137803327 137803327 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 137803327 137803327 G A SNP EGR1 ENST00000239938 human ensembl 74_37 +1 known missense c.1189 p.A397T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 tier1 - - 97 0 0.00 94 23 19.66 EHD2 0 genome.wustl.edu 37 19 48244287 48244287 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 48244287 48244287 G 0 DEL EHD2 ENST00000263277 human ensembl 74_37 +1 known frame_shift_del c.1230 p.G412fs 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 128 0 0.00 132 12 8.33 EHMT1 0 genome.wustl.edu 37 9 140695337 140695337 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 140695337 140695337 C T SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known silent c.2613 p.D871 0.998 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 tier1 - - 41 0 0.00 38 11 22.45 EIF2B3 0 genome.wustl.edu 37 1 45407182 45407182 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 45407182 45407182 T - DEL EIF2B3 ENST00000360403 human ensembl 74_37 -1 known frame_shift_del c.450 p.A151fs 0.997 NULL pfam_NTP_transferase - no_errors EIF2B3 HGNC ENSG00000070785 tier1 124 0 0.00 85 20 19.05 EIF2S3 0 genome.wustl.edu 37 X 24091436 24091437 + RNA INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 24091436 24091437 - A INS EIF2S3 ENST00000460032 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors EIF2S3 HGNC ENSG00000130741 tier1 24 0 0.00 21 8 27.59 EIF4EBP2 0 genome.wustl.edu 37 10 72164272 72164272 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 72164272 72164272 G - DEL EIF4EBP2 ENST00000373218 human ensembl 74_37 +1 known frame_shift_del c.115 p.T41fs 1.000 pfam_EIF4EBP pfam_EIF4EBP - no_errors EIF4EBP2 HGNC ENSG00000148730 tier1 38 0 0.00 24 6 20.00 EIF4G1 0 genome.wustl.edu 37 3 184043088 184043088 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 184043088 184043088 A 0 DEL EIF4G1 ENST00000352767 human ensembl 74_37 +1 known frame_shift_del c.2909 p.I972fs 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 144 0 0.00 117 10 7.87 EIF4G3 0 genome.wustl.edu 37 1 21226367 21226367 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 21226367 21226367 A G SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known missense c.1672 p.F558L 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 tier1 - - 176 0 0.00 173 42 19.53 EIF5A2 0 genome.wustl.edu 37 3 170624844 170624844 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 170624844 170624844 T - DEL EIF5A2 ENST00000295822 human ensembl 74_37 -1 known frame_shift_del c.204 p.K68fs 0.994 superfamily_Translation_prot_SH3-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,pfam_KOW,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5A2 HGNC ENSG00000163577 tier1 41 0 0.00 53 12 18.46 ELAVL3 0 genome.wustl.edu 37 19 11577605 11577605 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 11577605 11577605 C - DEL ELAVL3 ENST00000359227 human ensembl 74_37 -1 known frame_shift_del c.47 p.G16fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 tier1 28 0 0.00 28 9 24.32 EMC10 0 genome.wustl.edu 37 19 50985131 50985132 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 50985131 50985132 - G INS EMC10 ENST00000376918 human ensembl 74_37 +1 known frame_shift_ins c.692_693 p.A234fs 1.000:1.000 NULL NULL - no_errors EMC10 HGNC ENSG00000161671 tier1 16 0 0.00 10 3 23.08 EMP1 0 genome.wustl.edu 37 12 13364427 13364428 + RNA DEL AA AA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 13364427 13364428 AA - DEL EMP1 ENST00000542289 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors EMP1 HGNC ENSG00000134531 tier1 84 0 0.00 91 28 23.53 EN1 0 genome.wustl.edu 37 2 119604338 119604338 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 119604338 119604338 C T SNP EN1 ENST00000295206 human ensembl 74_37 -1 known missense c.406 p.A136T 0.217 NULL pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4 - no_errors EN1 HGNC ENSG00000163064 tier1 - - 88 0 0.00 71 9 11.25 ENPP3 0 genome.wustl.edu 37 6 132004249 132004249 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 132004249 132004249 T C SNP ENPP3 ENST00000357639 human ensembl 74_37 +1 known missense c.1067 p.L356P 0.941 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 tier1 - - 95 0 0.00 106 28 20.90 ENPP4 0 genome.wustl.edu 37 6 46111164 46111164 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 46111164 46111164 T C SNP ENPP4 ENST00000321037 human ensembl 74_37 +1 known silent c.1149 p.H383 0.935 NULL pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ENPP4 HGNC ENSG00000001561 tier1 - - 77 0 0.00 86 27 23.89 ENSG00000199405 0 genome.wustl.edu 37 8 56815414 56815415 + RNA DEL TT TT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 56815414 56815415 TT - DEL ENSG00000199405 ENST00000362535 human ensembl 74_37 -1 novel rna NULL NULL 0.582:0.596 - - - no_errors SNORA1 RFAM ENSG00000199405 tier1 11 0 0.00 13 2 13.33 ENSG00000221060 0 genome.wustl.edu 37 14 70270922 70270925 + RNA DEL TTTT TTTT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 70270922 70270925 TTTT - DEL ENSG00000221060 ENST00000408133 human ensembl 74_37 -1 novel rna NULL NULL 0.003:0.002:0.002:0.003 - - - no_errors SNORA11 RFAM ENSG00000221060 tier1 8 0 0.00 12 3 20.00 ENSG00000223697 0 genome.wustl.edu 37 8 133854715 133854717 + RNA DEL TTT TTT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 133854715 133854717 TTT - DEL ENSG00000223697 ENST00000608375 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.002:0.000 - - - no_errors AF230666.2 Clone_based_vega_gene ENSG00000223697 tier1 18 0 0.00 26 10 27.78 ENSG00000225805 0 genome.wustl.edu 37 11 71589510 71589511 + RNA INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 71589510 71589511 - T INS ENSG00000225805 ENST00000530210 human ensembl 74_37 +1 known rna NULL NULL 0.024:0.018 - - - no_errors CTD-2313N18.7 Clone_based_vega_gene ENSG00000225805 tier1 62 0 0.00 78 19 19.59 ENSG00000228830 0 genome.wustl.edu 37 1 234742800 234742801 + RNA DEL AT AT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 234742800 234742801 AT - DEL ENSG00000228830 ENST00000436039 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors RP4-781K5.2 Clone_based_vega_gene ENSG00000228830 tier1 41 0 0.00 45 10 18.18 ENSG00000232783 0 genome.wustl.edu 37 3 197838274 197838277 + RNA DEL AAAA AAAA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 197838274 197838277 AAAA - DEL ENSG00000232783 ENST00000411596 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001:0.001:0.001 - - - no_errors AC073135.3 Clone_based_vega_gene ENSG00000232783 tier1 13 0 0.00 23 3 11.54 ENSG00000233175 0 genome.wustl.edu 37 17 43317791 43317791 + RNA DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 43317791 43317791 C - DEL ENSG00000233175 ENST00000393507 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2020K17.3 Clone_based_vega_gene ENSG00000233175 tier1 24 0 0.00 29 4 12.12 ENSG00000234864 0 genome.wustl.edu 37 10 43199667 43199667 + RNA DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 43199667 43199667 A - DEL ENSG00000234864 ENST00000439913 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AL022344.5 Clone_based_vega_gene ENSG00000234864 tier1 31 0 0.00 54 9 14.29 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154812 + RNA DEL AA AA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 78154811 78154812 AA - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 tier1 22 0 0.00 27 6 18.18 ENSG00000254506 0 genome.wustl.edu 37 11 101465137 101465137 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 101465137 101465137 C T SNP ENSG00000254506 ENST00000527374 human ensembl 74_37 +1 known rna NULL NULL 0.970 - - - no_errors RP11-748H22.1 Clone_based_vega_gene ENSG00000254506 tier1 - - 62 0 0.00 73 17 18.89 ENSG00000259180 0 genome.wustl.edu 37 15 55972661 55972664 + RNA DEL TTTT TTTT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 55972661 55972664 TTTT - DEL ENSG00000259180 ENST00000561155 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors RP11-420M1.2 Clone_based_vega_gene ENSG00000259180 tier1 59 0 0.00 67 17 20.24 ENSG00000259780 0 genome.wustl.edu 37 16 2286814 2286814 + RNA SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 2286814 2286814 C A SNP ENSG00000259780 ENST00000564055 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-304L19.12 Clone_based_vega_gene ENSG00000259780 tier1 - - 31 0 0.00 18 5 21.74 ENSG00000267040 0 genome.wustl.edu 37 18 55335787 55335790 + RNA DEL AAAA AAAA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 55335787 55335790 AAAA - DEL ENSG00000267040 ENST00000592201 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors RP11-35G9.3 Clone_based_vega_gene ENSG00000267040 tier1 22 0 0.00 25 9 26.47 ENSG00000267395 0 genome.wustl.edu 37 19 46274767 46274767 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 46274767 46274767 G A SNP ENSG00000267395 ENST00000586251 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC074212.6 Clone_based_vega_gene ENSG00000267395 tier1 - - 27 0 0.00 26 4 13.33 ENSG00000267865 0 genome.wustl.edu 37 19 56220431 56220431 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 56220431 56220431 T - DEL ENSG00000267865 ENST00000596293 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2611O12.8 Clone_based_vega_gene ENSG00000267865 tier1 32 0 0.00 16 9 36.00 ENSG00000268568 0 genome.wustl.edu 37 19 57184267 57184267 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 57184267 57184267 C T SNP ENSG00000268568 ENST00000602145 human ensembl 74_37 -1 known rna NULL NULL 0.883 - - - no_errors AC007228.9 Clone_based_vega_gene ENSG00000268568 tier1 - - 50 0 0.00 46 9 16.36 ENSG00000271730 0 genome.wustl.edu 37 6 109319968 109319969 + RNA DEL AA AA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 109319968 109319969 AA - DEL ENSG00000271730 ENST00000605885 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-787I22.3 Clone_based_vega_gene ENSG00000271730 tier1 52 0 0.00 58 21 26.58 ENSG00000272078 0 genome.wustl.edu 37 1 10710882 10710882 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 10710882 10710882 G A SNP ENSG00000272078 ENST00000606802 human ensembl 74_37 +1 known rna NULL NULL 0.039 - - - no_errors RP4-734G22.3 Clone_based_vega_gene ENSG00000272078 tier1 - - 61 0 0.00 53 18 25.35 ENSG00000272367 0 genome.wustl.edu 37 5 86672175 86672175 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 86672175 86672175 T - DEL ENSG00000272367 ENST00000607486 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTC-428H11.2 Clone_based_vega_gene ENSG00000272367 tier1 13 0 0.00 10 7 41.18 ENSG00000272599 0 genome.wustl.edu 37 10 74885045 74885045 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 74885045 74885045 G A SNP ENSG00000272599 ENST00000608444 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-152N13.16 Clone_based_vega_gene ENSG00000272599 tier1 - - 78 0 0.00 64 19 22.89 ENSG00000272842 0 genome.wustl.edu 37 9 19371688 19371688 + RNA DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 19371688 19371688 A - DEL ENSG00000272842 ENST00000609609 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-513M16.7 Clone_based_vega_gene ENSG00000272842 tier1 18 0 0.00 22 6 21.43 EP400 0 genome.wustl.edu 37 12 132528749 132528749 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 132528749 132528749 T C SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.6586 p.W2196R 0.982 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 tier1 - - 84 0 0.00 92 8 8.00 EPB41L3 0 genome.wustl.edu 37 18 5489081 5489081 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 5489081 5489081 C T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.102 p.P34 0.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 42 0 0.00 26 11 29.73 EPB41L4B 0 genome.wustl.edu 37 9 111979202 111979202 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 111979202 111979202 T C SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known missense c.1633 p.K545E 0.959 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4B HGNC ENSG00000095203 tier1 - - 232 0 0.00 199 52 20.72 EPHB1 0 genome.wustl.edu 37 3 134884865 134884865 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 134884865 134884865 G A SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known silent c.1641 p.A547 0.004 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 151 0 0.00 196 41 17.30 EPHB2 0 genome.wustl.edu 37 1 23237054 23237054 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 23237054 23237054 G A SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known silent c.2682 p.A894 0.184 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 40 0 0.00 49 4 7.55 EPN1 0 genome.wustl.edu 37 19 56196848 56196848 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 56196848 56196848 G A SNP EPN1 ENST00000411543 human ensembl 74_37 +1 known silent c.648 p.T216 0.985 pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 tier1 - - 31 0 0.00 34 5 12.50 EPN1 0 genome.wustl.edu 37 19 56197004 56197004 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 56197004 56197004 C T SNP EPN1 ENST00000411543 human ensembl 74_37 +1 known silent c.804 p.T268 0.032 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 tier1 - - 19 0 0.00 13 4 23.53 ERAL1 0 genome.wustl.edu 37 17 27187465 27187465 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 27187465 27187465 C T SNP ERAL1 ENST00000254928 human ensembl 74_37 +1 known missense c.1208 p.P403L 0.000 superfamily_KH_prok-type pfam_GTP_binding_domain,pfam_MIRO-like,pfam_Dynamin_GTPase,pfam_AIG1,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_KH_prok-type,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors ERAL1 HGNC ENSG00000132591 tier1 - - 92 0 0.00 75 21 21.88 ERBB2 0 genome.wustl.edu 37 17 37879583 37879583 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 37879583 37879583 C T SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.1958 p.S653F 0.958 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 tier1 - - 178 0 0.00 161 41 20.30 ERBB4 0 genome.wustl.edu 37 2 212989586 212989586 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 212989586 212989586 A G SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.125 p.L42P 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 tier1 - - 69 0 0.00 68 19 21.84 ERCC8 0 genome.wustl.edu 37 5 60187968 60187968 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 60187968 60187968 T - DEL ERCC8 ENST00000462279 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ERCC8 HGNC ENSG00000049167 tier1 11 0 0.00 12 3 20.00 ESPL1 0 genome.wustl.edu 37 12 53682904 53682904 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 53682904 53682904 C - DEL ESPL1 ENST00000257934 human ensembl 74_37 +1 known frame_shift_del c.4739 p.L1581fs 0.994 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 tier1 98 0 0.00 95 13 12.04 ESPNL 0 genome.wustl.edu 37 2 239039156 239039156 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 239039156 239039156 C T SNP ESPNL ENST00000343063 human ensembl 74_37 +1 known missense c.1801 p.R601C 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ESPNL HGNC ENSG00000144488 tier1 - - 10 0 0.00 16 7 30.43 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 tier1 76 0 0.00 124 36 22.50 ETFB 0 genome.wustl.edu 37 19 51857746 51857746 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 51857746 51857746 A G SNP ETFB ENST00000354232 human ensembl 74_37 -1 known silent c.147 p.G49 0.000 NULL pfam_ETF_a/b_N,smart_ETF_a/b_N - no_errors ETFB HGNC ENSG00000105379 tier1 - - 88 0 0.00 79 13 14.13 EXOSC3 0 genome.wustl.edu 37 9 37780704 37780704 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 37780704 37780704 T C SNP EXOSC3 ENST00000327304 human ensembl 74_37 -1 known missense c.800 p.Q267R 0.998 NULL NULL - no_errors EXOSC3 HGNC ENSG00000107371 tier1 - - 78 0 0.00 84 26 23.64 EYA3 0 genome.wustl.edu 37 1 28330930 28330930 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 28330930 28330930 G A SNP EYA3 ENST00000373871 human ensembl 74_37 -1 known missense c.910 p.R304W 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA3 HGNC ENSG00000158161 tier1 - - 49 0 0.00 26 9 25.71 F13A1 0 genome.wustl.edu 37 6 6266965 6266965 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 6266965 6266965 C - DEL F13A1 ENST00000264870 human ensembl 74_37 -1 known frame_shift_del c.397 p.A133fs 1.000 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 tier1 99 0 0.00 85 15 15.00 FAM127B 0 genome.wustl.edu 37 X 134186157 134186157 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 134186157 134186157 C T SNP FAM127B ENST00000520964 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors FAM127B HGNC ENSG00000203950 tier1 - - 67 0 0.00 64 21 24.71 FAM133B 0 genome.wustl.edu 37 7 92207638 92207638 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 92207638 92207638 T - DEL FAM133B ENST00000445716 human ensembl 74_37 -1 known frame_shift_del c.271 p.R91fs 1.000 NULL NULL - no_errors FAM133B HGNC ENSG00000234545 tier1 23 0 0.00 20 4 16.67 FAM135A 0 genome.wustl.edu 37 6 71245977 71245977 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 71245977 71245977 C T SNP FAM135A ENST00000418814 human ensembl 74_37 +1 known missense c.3980 p.S1327L 1.000 pfam_DUF676_lipase-like,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 tier1 - - 63 0 0.00 92 7 7.07 FAM13C 0 genome.wustl.edu 37 10 61112053 61112053 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 61112053 61112053 C T SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known missense c.301 p.G101R 0.989 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 tier1 - - 97 0 0.00 80 9 10.11 FAM160A2 0 genome.wustl.edu 37 11 6236149 6236149 + RNA DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 6236149 6236149 G - DEL FAM160A2 ENST00000529360 human ensembl 74_37 -1 putative rna NULL NULL 0.928 - - - no_errors FAM160A2 HGNC ENSG00000051009 tier1 32 0 0.00 44 5 10.20 FAM166A 0 genome.wustl.edu 37 9 140139877 140139877 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 140139877 140139877 G A SNP FAM166A ENST00000344774 human ensembl 74_37 -1 known missense c.404 p.P135L 0.047 NULL pfam_UPF0573/UPF0605 - no_errors FAM166A HGNC ENSG00000188163 tier1 rs148343605 - 170 0 0.00 115 33 22.30 FAM167A 0 genome.wustl.edu 37 8 11281886 11281887 + Frame_Shift_Ins INS - - AG TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 11281886 11281887 - AG INS FAM167A ENST00000284486 human ensembl 74_37 -1 known frame_shift_ins c.641_640 p.C214fs 1.000:1.000 pfam_FAM167 pfam_FAM167 - no_errors FAM167A HGNC ENSG00000154319 tier1 98 0 0.00 178 27 13.17 FAM188B 0 genome.wustl.edu 37 7 30821610 30821610 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 30821610 30821610 A - DEL FAM188B ENST00000265299 human ensembl 74_37 +1 known frame_shift_del c.201 p.T69fs 0.942 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 tier1 47 0 0.00 74 19 20.43 FAM217A 0 genome.wustl.edu 37 6 4069980 4069980 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 4069980 4069980 A - DEL FAM217A ENST00000274673 human ensembl 74_37 -1 known frame_shift_del c.477 p.F159fs 0.003 NULL NULL - no_errors FAM217A HGNC ENSG00000145975 tier1 43 0 0.00 44 13 22.81 FAM220A 0 genome.wustl.edu 37 7 6370143 6370143 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 6370143 6370143 G A SNP FAM220A ENST00000313324 human ensembl 74_37 -1 known missense c.643 p.R215C 0.000 NULL NULL - no_errors FAM220A HGNC ENSG00000178397 tier1 - - 178 0 0.00 148 34 18.68 FAM71E1 0 genome.wustl.edu 37 19 50979605 50979605 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 50979605 50979605 G - DEL FAM71E1 ENST00000600100 human ensembl 74_37 -1 known frame_shift_del c.41 p.P14fs 0.000 NULL pfam_DUF3699 - no_errors FAM71E1 HGNC ENSG00000142530 tier1 42 0 0.00 34 5 12.82 FAM81B 0 genome.wustl.edu 37 5 94772542 94772542 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 94772542 94772542 T C SNP FAM81B ENST00000283357 human ensembl 74_37 +1 known silent c.825 p.P275 0.740 NULL NULL - no_errors FAM81B HGNC ENSG00000153347 tier1 - - 54 0 0.00 76 20 20.83 FAM98A 0 genome.wustl.edu 37 2 33812389 33812389 + Splice_Site SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 33812389 33812389 T C SNP FAM98A ENST00000238823 human ensembl 74_37 -1 known splice_site c.523-2 e5-2 1.000 - - - no_errors FAM98A HGNC ENSG00000119812 tier1 - - 87 0 0.00 73 23 23.96 FAR2 0 genome.wustl.edu 37 12 29474809 29474809 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 29474809 29474809 G A SNP FAR2 ENST00000182377 human ensembl 74_37 +1 known silent c.1209 p.T403 0.007 pfam_FAR pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 tier1 - - 67 0 0.00 94 14 12.96 FARP1 0 genome.wustl.edu 37 13 99098451 99098451 + Missense_Mutation SNP T T A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 99098451 99098451 T A SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known missense c.2989 p.S997T 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 tier1 - - 56 0 0.00 50 17 25.00 FASN 0 genome.wustl.edu 37 17 80041188 80041188 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 80041188 80041188 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.5455 p.R1819W 0.549 smart_PKS_ER pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 tier1 - - 75 0 0.00 58 13 18.31 FASN 0 genome.wustl.edu 37 17 80046330 80046330 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 80046330 80046330 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known silent c.2529 p.D843 0.991 smart_PKS_dehydratase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 tier1 rs146170446 - 57 0 0.00 58 17 22.67 FASTK 0 genome.wustl.edu 37 7 150774993 150774993 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 150774993 150774993 A - DEL FASTK ENST00000297532 human ensembl 74_37 -1 known frame_shift_del c.1012 p.S338fs 1.000 pfam_FAST_Leu-rich pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC ENSG00000164896 tier1 102 0 0.00 57 15 20.83 FASTK 0 genome.wustl.edu 37 7 150776817 150776817 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 150776817 150776817 G A SNP FASTK ENST00000297532 human ensembl 74_37 -1 known missense c.275 p.A92V 0.999 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC ENSG00000164896 tier1 - - 19 0 0.00 14 4 22.22 FAT1 0 genome.wustl.edu 37 4 187521418 187521418 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 187521418 187521418 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.11737 p.A3913T 0.196 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 - - 30 0 0.00 31 9 22.50 FAT1 0 genome.wustl.edu 37 4 187630013 187630013 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 187630013 187630013 A G SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.969 p.I323 0.074 superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 - - 232 0 0.00 298 70 19.02 FAT2 0 genome.wustl.edu 37 5 150901208 150901208 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 150901208 150901208 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.10946 p.R3649Q 1.000 NULL pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 rs201335279 - 35 0 0.00 29 10 25.64 FAT2 0 genome.wustl.edu 37 5 150924878 150924878 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 150924878 150924878 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.5810 p.R1937Q 0.284 superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 rs145637545 - 104 0 0.00 82 21 20.39 FAT3 0 genome.wustl.edu 37 11 92600150 92600150 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 92600150 92600150 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.11902 p.R3968C 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 20 0 0.00 21 5 19.23 FAT4 0 genome.wustl.edu 37 4 126336784 126336784 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 126336784 126336784 C A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.6666 p.T2222 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 131 0 0.00 130 35 21.21 FAT4 0 genome.wustl.edu 37 4 126369709 126369709 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 126369709 126369709 T G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.7538 p.F2513C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 74 0 0.00 93 19 16.96 FBLIM1 0 genome.wustl.edu 37 1 16095094 16095094 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 16095094 16095094 G A SNP FBLIM1 ENST00000441801 human ensembl 74_37 +1 known silent c.510 p.P170 0.956 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FBLIM1 HGNC ENSG00000162458 tier1 - - 96 0 0.00 101 10 9.01 FBN2 0 genome.wustl.edu 37 5 127873289 127873289 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 127873289 127873289 C A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.8 p.R3I 1.000 pirsf_FBN pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 13 0 0.00 19 7 26.92 FBXO24 0 genome.wustl.edu 37 7 100192728 100192729 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 100192728 100192729 - G INS FBXO24 ENST00000427939 human ensembl 74_37 +1 known frame_shift_ins c.1070_1071 p.V360fs 1.000:1.000 superfamily_RCC1/BLIP-II pfam_F-box_dom,pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC ENSG00000106336 tier1 100 0 0.00 125 15 10.71 FBXO43 0 genome.wustl.edu 37 8 101154342 101154342 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 101154342 101154342 G A SNP FBXO43 ENST00000428847 human ensembl 74_37 -1 known missense c.140 p.A47V 0.031 NULL pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 tier1 - - 111 0 0.00 222 15 6.33 FBXO46 0 genome.wustl.edu 37 19 46215695 46215695 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 46215695 46215695 C T SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known silent c.1059 p.P353 0.023 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 tier1 - - 43 0 0.00 31 10 24.39 FBXW7 0 genome.wustl.edu 37 4 153249384 153249384 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 153249384 153249384 C T SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1394 p.R465H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 tier1 - - 151 0 0.00 193 32 14.16 FECH 0 genome.wustl.edu 37 18 55238817 55238817 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 55238817 55238817 G A SNP FECH ENST00000585494 human ensembl 74_37 -1 known silent c.333 p.C111 0.000 NULL pfam_Ferrochelatase - no_errors FECH HGNC ENSG00000066926 tier1 - - 69 0 0.00 85 8 8.60 FFAR1 0 genome.wustl.edu 37 19 35842806 35842806 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 35842806 35842806 C T SNP FFAR1 ENST00000246553 human ensembl 74_37 +1 known missense c.352 p.R118W 0.984 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR40_recept_FA pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR40_recept_FA,prints_GPR40-rel_orph,prints_GPCR_Rhodpsn - no_errors FFAR1 HGNC ENSG00000126266 tier1 - - 84 0 0.00 85 21 19.81 FGD1 0 genome.wustl.edu 37 X 54482960 54482960 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 54482960 54482960 A G SNP FGD1 ENST00000375135 human ensembl 74_37 -1 known silent c.1677 p.N559 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 tier1 - - 52 0 0.00 55 16 22.54 FGD3 0 genome.wustl.edu 37 9 95782638 95782638 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 95782638 95782638 G A SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known missense c.1426 p.E476K 1.000 superfamily_Znf_FYVE_PHD pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 tier1 - - 48 0 0.00 35 13 27.08 FGF14 0 genome.wustl.edu 37 13 102375253 102375253 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 102375253 102375253 C T SNP FGF14 ENST00000376131 human ensembl 74_37 -1 known silent c.687 p.T229 0.998 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF14 HGNC ENSG00000102466 tier1 - - 58 0 0.00 83 11 11.70 FGF18 0 genome.wustl.edu 37 5 170863239 170863239 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 170863239 170863239 G A SNP FGF18 ENST00000274625 human ensembl 74_37 +1 known missense c.212 p.R71H 0.999 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF18 HGNC ENSG00000156427 tier1 - - 34 0 0.00 29 7 19.44 FGFBP1 0 genome.wustl.edu 37 4 15938178 15938178 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 15938178 15938178 T - DEL FGFBP1 ENST00000259988 human ensembl 74_37 -1 known frame_shift_del c.78 p.V27fs 0.001 pfam_FGF1-bd pfam_FGF1-bd - no_errors FGFBP1 HGNC ENSG00000137440 tier1 98 0 0.00 124 26 17.33 FGFR3 0 genome.wustl.edu 37 4 1807569 1807569 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 1807569 1807569 G A SNP FGFR3 ENST00000340107 human ensembl 74_37 +1 known missense c.1744 p.D582N 1.000 pirsf_FGF_rcpt_fam,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 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR3 HGNC ENSG00000068078 tier1 - - 200 0 0.00 171 42 19.72 FHOD1 0 genome.wustl.edu 37 16 67264360 67264360 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 67264360 67264360 C T SNP FHOD1 ENST00000258201 human ensembl 74_37 -1 known missense c.2908 p.E970K 0.998 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 tier1 - - 128 0 0.00 91 20 17.86 FHOD1 0 genome.wustl.edu 37 16 67267851 67267852 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 67267851 67267852 - G INS FHOD1 ENST00000258201 human ensembl 74_37 -1 known frame_shift_ins c.1755_1754 p.P586fs 0.867:1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 tier1 31 0 0.00 29 5 14.71 FIGNL1 0 genome.wustl.edu 37 7 50514188 50514188 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 50514188 50514188 A G SNP FIGNL1 ENST00000356889 human ensembl 74_37 -1 known silent c.798 p.I266 0.043 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGNL1 HGNC ENSG00000132436 tier1 - - 87 0 0.00 71 24 25.26 FILIP1L 0 genome.wustl.edu 37 3 99569223 99569223 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 99569223 99569223 C T SNP FILIP1L ENST00000354552 human ensembl 74_37 -1 known missense c.1297 p.A433T 1.000 superfamily_Prefoldin pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 tier1 - - 91 0 0.00 76 15 16.48 FITM2 0 genome.wustl.edu 37 20 42935801 42935801 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 42935801 42935801 C T SNP FITM2 ENST00000396825 human ensembl 74_37 -1 known missense c.253 p.G85S 0.908 pfam_FIT pfam_FIT - no_errors FITM2 HGNC ENSG00000197296 tier1 - - 70 0 0.00 66 14 17.50 FJX1 0 genome.wustl.edu 37 11 35641227 35641227 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 35641227 35641227 G A SNP FJX1 ENST00000317811 human ensembl 74_37 +1 known missense c.1043 p.R348Q 1.000 pfam_DUF1193 pfam_DUF1193 - no_errors FJX1 HGNC ENSG00000179431 tier1 - - 23 0 0.00 14 7 33.33 FKBP7 0 genome.wustl.edu 37 2 179330469 179330470 + RNA DEL AA AA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 179330469 179330470 AA - DEL FKBP7 ENST00000464248 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors FKBP7 HGNC ENSG00000079150 tier1 32 0 0.00 23 7 23.33 FLCN 0 genome.wustl.edu 37 17 17119709 17119709 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 17119709 17119709 G - DEL FLCN ENST00000285071 human ensembl 74_37 -1 known frame_shift_del c.1285 p.H429fs 1.000 NULL pfam_Folliculin - no_errors FLCN HGNC ENSG00000154803 tier1 33 0 0.00 37 8 17.78 FLG 0 genome.wustl.edu 37 1 152284761 152284761 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 152284761 152284761 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.2601 p.S867 0.000 prints_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 487 0 0.00 616 51 7.63 FLG 0 genome.wustl.edu 37 1 152286128 152286128 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 152286128 152286128 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.1234 p.R412C 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 451 0 0.00 522 45 7.94 FLG-AS1 0 genome.wustl.edu 37 1 152287342 152287343 + RNA DEL TT TT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 152287342 152287343 TT - DEL FLG-AS1 ENST00000392688 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors FLG-AS1 HGNC ENSG00000237975 tier1 10 0 0.00 14 5 26.32 FLJ45139 0 genome.wustl.edu 37 21 40250362 40250362 + RNA DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 40250362 40250362 A - DEL FLJ45139 ENST00000380931 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AF064858.6 Clone_based_vega_gene ENSG00000205622 tier1 17 0 0.00 14 6 30.00 FLOT2 0 genome.wustl.edu 37 17 27208830 27208830 + Splice_Site SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 27208830 27208830 A G SNP FLOT2 ENST00000394908 human ensembl 74_37 -1 known splice_site c.914+2 e8+2 1.000 - - - no_errors FLOT2 HGNC ENSG00000132589 tier1 - - 110 0 0.00 104 20 16.13 FLOT2 0 genome.wustl.edu 37 17 27224559 27224559 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 27224559 27224559 C T SNP FLOT2 ENST00000394908 human ensembl 74_37 -1 known missense c.34 p.A12T 1.000 pfam_Band_7 pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC ENSG00000132589 tier1 - - 23 0 0.00 31 8 20.51 FLVCR2 0 genome.wustl.edu 37 14 76108219 76108222 + Frame_Shift_Del DEL CAAA CAAA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CAAA CAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 76108219 76108222 CAAA - DEL FLVCR2 ENST00000238667 human ensembl 74_37 +1 known frame_shift_del c.1487_1490 p.N497fs 1.000:0.988:1.000:1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom - no_errors FLVCR2 HGNC ENSG00000119686 tier1 112 0 0.00 129 17 11.64 FN1 0 genome.wustl.edu 37 2 216245734 216245734 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 216245734 216245734 C T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.5234 p.S1745N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 tier1 - - 101 0 0.00 86 26 23.21 FN1 0 genome.wustl.edu 37 2 216271857 216271857 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 216271857 216271857 T C SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.2706 p.P902 0.012 NULL pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 tier1 - - 80 0 0.00 63 33 34.38 FNBP1 0 genome.wustl.edu 37 9 132720816 132720816 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 132720816 132720816 C T SNP FNBP1 ENST00000446176 human ensembl 74_37 -1 known missense c.362 p.R121H 0.906 superfamily_Ribosomal_S20 pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FNBP1 HGNC ENSG00000187239 tier1 - - 9 0 0.00 8 7 46.67 FNDC5 0 genome.wustl.edu 37 1 33330280 33330280 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 33330280 33330280 C - DEL FNDC5 ENST00000609187 human ensembl 74_37 -1 known frame_shift_del c.393 p.L132fs 0.275 NULL superfamily_Fibronectin_type3 - no_errors FNDC5 HGNC ENSG00000160097 tier1 89 0 0.00 90 20 18.18 FOXL1 0 genome.wustl.edu 37 16 86612522 86612522 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 86612522 86612522 G A SNP FOXL1 ENST00000320241 human ensembl 74_37 +1 known missense c.193 p.A65T 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXL1 HGNC ENSG00000176678 tier1 - - 105 0 0.00 118 29 19.73 FOXN3 0 genome.wustl.edu 37 14 89878533 89878534 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 89878533 89878534 0 G INS FOXN3 ENST00000261302 human ensembl 74_37 -1 known frame_shift_ins c.288_287 p.S97fs 0.006:0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 84 0 0.00 94 10 9.62 FOXO1 0 genome.wustl.edu 37 13 41134524 41134524 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 41134524 41134524 G A SNP FOXO1 ENST00000379561 human ensembl 74_37 -1 known silent c.1104 p.P368 0.914 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO1 HGNC ENSG00000150907 tier1 - - 212 0 0.00 226 56 19.86 FOXO3 0 genome.wustl.edu 37 6 108882982 108882982 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 108882982 108882982 G A SNP FOXO3 ENST00000343882 human ensembl 74_37 +1 known missense c.571 p.V191M 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO3 HGNC ENSG00000118689 tier1 - - 52 0 0.00 56 16 22.22 FOXP1 0 genome.wustl.edu 37 3 71179761 71179762 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 71179761 71179762 - A INS FOXP1 ENST00000491238 human ensembl 74_37 -1 putative frame_shift_ins c.74_73 p.Y25fs 1.000:1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 tier1 47 0 0.00 65 14 17.72 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74835983 74835983 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 74835983 74835983 T C SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.2021 p.L674S 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 tier1 - - 36 0 0.00 47 14 22.95 FREM2 0 genome.wustl.edu 37 13 39424219 39424219 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 39424219 39424219 A C SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.6424 p.S2142R 0.978 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 68 0 0.00 79 22 21.78 FSIP2 0 genome.wustl.edu 37 2 186669822 186669822 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 186669822 186669822 T C SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known silent c.16056 p.G5352 0.002 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 69 0 0.00 90 28 23.73 FSTL3 0 genome.wustl.edu 37 19 681484 681486 + In_Frame_Del DEL CTC CTC - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 681484 681486 CTC - DEL FSTL3 ENST00000166139 human ensembl 74_37 +1 known in_frame_del c.657_659 p.S221in_frame_del 0.913:0.998:1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Kazal_dom - no_errors FSTL3 HGNC ENSG00000070404 tier1 45 0 0.00 44 5 10.20 FSTL4 0 genome.wustl.edu 37 5 132534946 132534947 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 132534946 132534947 - C INS FSTL4 ENST00000265342 human ensembl 74_37 -1 known frame_shift_ins c.2370_2369 p.T791fs 0.000:0.001 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 tier1 48 0 0.00 45 7 13.46 FSTL4 0 genome.wustl.edu 37 5 132736552 132736552 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 132736552 132736552 C T SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known missense c.287 p.S96N 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 tier1 - - 82 0 0.00 43 13 23.21 FTCD 0 genome.wustl.edu 37 21 47571522 47571523 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 47571522 47571523 - T INS FTCD ENST00000359679 human ensembl 74_37 -1 known frame_shift_ins c.586_585 p.A195fs 1.000:1.000 pfam_Formiminotransferase_C,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat - no_errors FTCD HGNC ENSG00000160282 tier1 140 0 0.00 127 32 20.13 FXR1 0 genome.wustl.edu 37 3 180685947 180685947 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 180685947 180685947 G A SNP FXR1 ENST00000357559 human ensembl 74_37 +1 known missense c.1307 p.R436H 1.000 pfam_Frag_X_MRP_fam pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC ENSG00000114416 tier1 - - 77 0 0.00 87 18 17.14 FYTTD1 0 genome.wustl.edu 37 3 197500306 197500306 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 197500306 197500306 G A SNP FYTTD1 ENST00000241502 human ensembl 74_37 +1 known missense c.530 p.G177E 1.000 pfam_DUF1346 pfam_DUF1346 - no_errors FYTTD1 HGNC ENSG00000122068 15 0 0.00 10 3 23.08 FZD1 0 genome.wustl.edu 37 7 90894983 90894984 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 90894983 90894984 - G INS FZD1 ENST00000287934 human ensembl 74_37 +1 known frame_shift_ins c.788_789 p.A266fs 0.385:0.417 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 tier1 20 0 0.00 25 2 7.41 FZD3 0 genome.wustl.edu 37 8 28409242 28409242 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 28409242 28409242 T 0 DEL FZD3 ENST00000240093 human ensembl 74_37 +1 known frame_shift_del c.1527 p.H512fs 1.000 pfam_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD3 HGNC ENSG00000104290 56 0 0.00 134 16 10.67 FZD8 0 genome.wustl.edu 37 10 35928968 35928968 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 35928968 35928968 C T SNP FZD8 ENST00000374694 human ensembl 74_37 -1 known missense c.1390 p.G464S 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD8 HGNC ENSG00000177283 tier1 - - 23 0 0.00 34 12 26.09 GAB2 0 genome.wustl.edu 37 11 77933207 77933207 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 77933207 77933207 G A SNP GAB2 ENST00000361507 human ensembl 74_37 -1 known silent c.1602 p.T534 0.013 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 tier1 - - 63 0 0.00 49 14 22.22 GABRG3 0 genome.wustl.edu 37 15 27571973 27571974 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 27571973 27571974 - T INS GABRG3 ENST00000333743 human ensembl 74_37 +1 known frame_shift_ins c.288_289 p.A98fs 1.000:1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC ENSG00000182256 tier1 121 0 0.00 146 33 18.44 GABRP 0 genome.wustl.edu 37 5 170239071 170239071 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 170239071 170239071 G A SNP GABRP ENST00000265294 human ensembl 74_37 +1 known missense c.1132 p.V378I 0.004 superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRP HGNC ENSG00000094755 tier1 - - 101 0 0.00 112 32 22.22 GAL3ST1 0 genome.wustl.edu 37 22 30951368 30951368 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 30951368 30951368 G A SNP GAL3ST1 ENST00000338911 human ensembl 74_37 -1 known missense c.844 p.R282C 1.000 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST1 HGNC ENSG00000128242 tier1 - - 93 0 0.00 95 20 17.39 GAL3ST3 0 genome.wustl.edu 37 11 65810901 65810901 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 65810901 65810901 C T SNP GAL3ST3 ENST00000312006 human ensembl 74_37 -1 known missense c.373 p.V125M 0.979 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST3 HGNC ENSG00000175229 tier1 - - 42 0 0.00 38 13 25.49 GALR3 0 genome.wustl.edu 37 22 38221152 38221152 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 38221152 38221152 G A SNP GALR3 ENST00000249041 human ensembl 74_37 +1 known missense c.782 p.G261D 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Galanin_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Galanin_rcpt,prints_GPCR_Rhodpsn,prints_Galnin_3_rcpt - no_errors GALR3 HGNC ENSG00000128310 tier1 - - 29 0 0.00 18 7 28.00 GART 0 genome.wustl.edu 37 21 34882122 34882122 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 34882122 34882122 T - DEL GART ENST00000381815 human ensembl 74_37 -1 known frame_shift_del c.2420 p.K807fs 0.844 NULL pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 tier1 57 0 0.00 61 8 11.59 GATA3-AS1 0 genome.wustl.edu 37 10 8093088 8093088 + RNA SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 8093088 8093088 T C SNP GATA3-AS1 ENST00000355358 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GATA3-AS1 HGNC ENSG00000197308 tier1 - - 32 0 0.00 32 6 15.79 GATA6 0 genome.wustl.edu 37 18 19751534 19751534 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 19751534 19751534 G T SNP GATA6 ENST00000269216 human ensembl 74_37 +1 known missense c.429 p.Q143H 1.000 NULL pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA6 HGNC ENSG00000141448 tier1 - - 58 0 0.00 65 16 19.75 GATAD2A 0 genome.wustl.edu 37 19 19606876 19606876 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 19606876 19606876 A G SNP GATAD2A ENST00000358713 human ensembl 74_37 +1 known missense c.772 p.R258G 1.000 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2A HGNC ENSG00000167491 tier1 - - 62 0 0.00 47 11 18.97 GBA 0 genome.wustl.edu 37 1 155209725 155209725 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 155209725 155209725 G A SNP GBA ENST00000327247 human ensembl 74_37 -1 known missense c.259 p.R87W 0.833 pfam_Glyco_hydro_30 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 - no_errors GBA HGNC ENSG00000177628 tier1 rs1141814 - 50 0 0.00 42 10 19.23 GBP1 0 genome.wustl.edu 37 1 89522618 89522618 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 89522618 89522618 C A SNP GBP1 ENST00000370473 human ensembl 74_37 -1 known missense c.1074 p.R358S 0.019 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP1 HGNC ENSG00000117228 tier1 - - 148 0 0.00 124 50 28.74 GBP7 0 genome.wustl.edu 37 1 89613322 89613322 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 89613322 89613322 C - DEL GBP7 ENST00000294671 human ensembl 74_37 -1 known frame_shift_del c.1293 p.H432fs 0.994 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP7 HGNC ENSG00000213512 tier1 126 0 0.00 146 29 16.57 GCC1 0 genome.wustl.edu 37 7 127222640 127222640 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 127222640 127222640 G A SNP GCC1 ENST00000321407 human ensembl 74_37 -1 known missense c.1756 p.H586Y 1.000 NULL pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 tier1 - - 69 0 0.00 73 27 27.00 GCNT2 0 genome.wustl.edu 37 6 10557410 10557410 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 10557410 10557410 C - DEL GCNT2 ENST00000316170 human ensembl 74_37 +1 known frame_shift_del c.754 p.H254fs 1.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 tier1 76 0 0.00 78 24 23.53 GDF3 0 genome.wustl.edu 37 12 7848210 7848210 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 7848210 7848210 G A SNP GDF3 ENST00000329913 human ensembl 74_37 -1 known missense c.115 p.P39S 0.268 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF3 HGNC ENSG00000184344 tier1 - - 39 0 0.00 28 9 24.32 GFI1B 0 genome.wustl.edu 37 9 135863633 135863633 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 135863633 135863633 C T SNP GFI1B ENST00000339463 human ensembl 74_37 +1 known silent c.288 p.S96 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1B HGNC ENSG00000165702 tier1 - - 109 0 0.00 90 27 23.08 GGN 0 genome.wustl.edu 37 19 38876168 38876168 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 38876168 38876168 G A SNP GGN ENST00000334928 human ensembl 74_37 -1 known silent c.1734 p.R578 0.000 NULL NULL - no_errors GGN HGNC ENSG00000179168 tier1 rs145112886 - 37 0 0.00 37 11 22.92 GGNBP2 0 genome.wustl.edu 37 17 34935830 34935830 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 34935830 34935830 C T SNP GGNBP2 ENST00000304718 human ensembl 74_37 +1 known missense c.1001 p.A334V 1.000 NULL NULL - no_errors GGNBP2 HGNC ENSG00000005955 tier1 - - 143 0 0.00 130 27 17.20 GGTLC1 0 genome.wustl.edu 37 20 23966552 23966552 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 23966552 23966552 G A SNP GGTLC1 ENST00000278765 human ensembl 74_37 -1 known missense c.364 p.R122W 1.000 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC1 HGNC ENSG00000149435 tier1 - - 205 0 0.00 181 78 30.12 GIMAP2 0 genome.wustl.edu 37 7 150390073 150390073 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 150390073 150390073 T C SNP GIMAP2 ENST00000223293 human ensembl 74_37 +1 known silent c.699 p.D233 0.000 NULL pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP2 HGNC ENSG00000106560 tier1 rs148143220 - 74 0 0.00 64 14 17.95 GINS1 0 genome.wustl.edu 37 20 25422397 25422397 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 25422397 25422397 A - DEL GINS1 ENST00000262460 human ensembl 74_37 +1 known frame_shift_del c.507 p.N172fs 0.232 NULL NULL - no_errors GINS1 HGNC ENSG00000101003 tier1 57 0 0.00 97 15 13.39 GIT2 0 genome.wustl.edu 37 12 110397663 110397663 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 110397663 110397663 G A SNP GIT2 ENST00000355312 human ensembl 74_37 -1 known missense c.1088 p.S363L 0.695 NULL pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT2 HGNC ENSG00000139436 tier1 - - 31 0 0.00 43 8 15.69 GLI1 0 genome.wustl.edu 37 12 57860075 57860075 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 57860075 57860075 G - DEL GLI1 ENST00000228682 human ensembl 74_37 +1 known frame_shift_del c.815 p.G274fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 tier1 209 0 0.00 209 60 22.30 GLI4 0 genome.wustl.edu 37 8 144358416 144358416 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 144358416 144358416 T C SNP GLI4 ENST00000340042 human ensembl 74_37 +1 known silent c.573 p.S191 0.954 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI4 HGNC ENSG00000250571 tier1 - - 25 0 0.00 22 4 14.81 GLIS2 0 genome.wustl.edu 37 16 4384871 4384871 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 4384871 4384871 G - DEL GLIS2 ENST00000262366 human ensembl 74_37 +1 known frame_shift_del c.415 p.A141fs 0.995 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC ENSG00000126603 tier1 131 0 0.00 123 21 14.58 GLT8D2 0 genome.wustl.edu 37 12 104388145 104388145 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 104388145 104388145 C T SNP GLT8D2 ENST00000360814 human ensembl 74_37 -1 known silent c.735 p.K245 0.947 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D2 HGNC ENSG00000120820 tier1 - - 38 0 0.00 50 20 28.57 GNAZ 0 genome.wustl.edu 37 22 23437880 23437880 + RNA SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 23437880 23437880 A G SNP GNAZ ENST00000492538 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors GNAZ HGNC ENSG00000128266 tier1 - - 41 0 0.00 38 9 19.15 GNL2 0 genome.wustl.edu 37 1 38033289 38033289 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 38033289 38033289 C T SNP GNL2 ENST00000373062 human ensembl 74_37 -1 known silent c.2028 p.A676 0.006 NULL pfam_NOG2_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL2 HGNC ENSG00000134697 tier1 rs141426730 - 76 0 0.00 111 22 16.54 GOLGA4 0 genome.wustl.edu 37 3 37360697 37360698 + RNA DEL TT TT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 37360697 37360698 TT - DEL GOLGA4 ENST00000435830 human ensembl 74_37 +1 known rna NULL NULL 0.005:0.096 - - - no_errors GOLGA4 HGNC ENSG00000144674 tier1 40 0 0.00 58 14 19.44 GOLGB1 0 genome.wustl.edu 37 3 121409851 121409852 + Frame_Shift_Del DEL TC TC - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 121409851 121409852 TC - DEL GOLGB1 ENST00000340645 human ensembl 74_37 -1 known frame_shift_del c.8345_8344 p.D2782fs 0.003:0.001 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 tier1 71 0 0.00 73 19 20.65 GP5 0 genome.wustl.edu 37 3 194117609 194117609 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 194117609 194117609 C - DEL GP5 ENST00000323007 human ensembl 74_37 -1 known frame_shift_del c.1403 p.G468fs 0.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 tier1 19 0 0.00 28 5 15.15 GPR1 0 genome.wustl.edu 37 2 207041026 207041026 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 207041026 207041026 G A SNP GPR1 ENST00000407325 human ensembl 74_37 -1 known missense c.946 p.R316W 0.699 prints_GPR1_orph_rcpt,prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR1_orph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_ATII_rcpt - no_errors GPR1 HGNC ENSG00000183671 tier1 rs142744381 - 94 0 0.00 90 25 21.74 GPR110 0 genome.wustl.edu 37 6 46979907 46979907 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 46979907 46979907 C T SNP GPR110 ENST00000371253 human ensembl 74_37 -1 known missense c.952 p.A318T 0.000 NULL pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC ENSG00000153292 tier1 - - 128 0 0.00 124 40 24.39 GPR114 0 genome.wustl.edu 37 16 57597822 57597822 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 57597822 57597822 C T SNP GPR114 ENST00000340339 human ensembl 74_37 +1 known silent c.360 p.D120 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 tier1 - - 97 0 0.00 81 24 22.86 GPR124 0 genome.wustl.edu 37 8 37691612 37691612 + Missense_Mutation SNP C C G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 37691612 37691612 C G SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known missense c.1574 p.A525G 0.919 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 tier1 - - 86 0 0.00 111 15 11.90 GPR126 0 genome.wustl.edu 37 6 142725013 142725013 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 142725013 142725013 G A SNP GPR126 ENST00000367609 human ensembl 74_37 +1 known missense c.2030 p.R677Q 0.011 NULL pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 tier1 - - 61 0 0.00 55 16 22.54 GPR137B 0 genome.wustl.edu 37 1 236371451 236371451 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 236371451 236371451 T G SNP GPR137B ENST00000366592 human ensembl 74_37 +1 known missense c.1193 p.L398R 0.017 NULL NULL - no_errors GPR137B HGNC ENSG00000077585 tier1 - - 40 0 0.00 51 8 13.56 GPR151 0 genome.wustl.edu 37 5 145894834 145894834 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 145894834 145894834 C T SNP GPR151 ENST00000311104 human ensembl 74_37 -1 known silent c.843 p.P281 0.009 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR151 HGNC ENSG00000173250 tier1 rs147823507 - 61 0 0.00 48 16 25.00 GPR161 0 genome.wustl.edu 37 1 168054869 168054869 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 168054869 168054869 C - DEL GPR161 ENST00000537209 human ensembl 74_37 -1 known frame_shift_del c.1550 p.G517fs 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 tier1 254 0 0.00 268 48 15.19 GPR173 0 genome.wustl.edu 37 X 53105840 53105840 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 53105840 53105840 G A SNP GPR173 ENST00000332582 human ensembl 74_37 +1 known missense c.37 p.G13S 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR173 HGNC ENSG00000184194 tier1 - - 42 0 0.00 49 11 18.33 GPR173 0 genome.wustl.edu 37 X 53106226 53106226 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 53106226 53106226 G A SNP GPR173 ENST00000332582 human ensembl 74_37 +1 known silent c.423 p.A141 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR173 HGNC ENSG00000184194 tier1 - - 54 0 0.00 56 10 15.15 GPR180 0 genome.wustl.edu 37 13 95279412 95279412 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 95279412 95279412 G A SNP GPR180 ENST00000376958 human ensembl 74_37 +1 known missense c.1310 p.R437H 1.000 NULL pfam_Intimal_thickness-rel_rcpt,pfam_TM_rcpt_euk - no_errors GPR180 HGNC ENSG00000152749 tier1 - - 45 0 0.00 62 14 18.42 GPR3 0 genome.wustl.edu 37 1 27721004 27721004 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 27721004 27721004 G A SNP GPR3 ENST00000374024 human ensembl 74_37 +1 known silent c.702 p.L234 1.000 pfam_GPCR_Rhodpsn,prints_GPR_3/6/12_orphan,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPR_3/6/12_orphan,prints_GPR3,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR3 HGNC ENSG00000181773 tier1 - - 61 0 0.00 71 8 10.13 GPR37 0 genome.wustl.edu 37 7 124387219 124387219 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 124387219 124387219 C T SNP GPR37 ENST00000303921 human ensembl 74_37 -1 known missense c.1202 p.R401H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 tier1 - - 97 0 0.00 94 27 22.31 GPR56 0 genome.wustl.edu 37 16 57687167 57687167 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 57687167 57687167 A C SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known missense c.540 p.K180N 0.042 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR56 HGNC ENSG00000205336 tier1 - - 53 0 0.00 43 11 20.37 GPR56 0 genome.wustl.edu 37 16 57689372 57689372 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 57689372 57689372 C T SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known missense c.830 p.T277M 0.483 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR56 HGNC ENSG00000205336 tier1 - - 79 0 0.00 76 24 24.00 GPR62 0 genome.wustl.edu 37 3 51990271 51990271 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 51990271 51990271 C T SNP GPR62 ENST00000322241 human ensembl 74_37 +1 known silent c.603 p.R201 0.894 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR62 HGNC ENSG00000180929 tier1 - - 32 0 0.00 28 4 12.50 GPR78 0 genome.wustl.edu 37 4 8583065 8583065 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 8583065 8583065 G A SNP GPR78 ENST00000382487 human ensembl 74_37 +1 known missense c.356 p.R119Q 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR78 HGNC ENSG00000155269 tier1 - - 24 0 0.00 13 6 31.58 GPR84 0 genome.wustl.edu 37 12 54757554 54757554 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 54757554 54757554 C - DEL GPR84 ENST00000267015 human ensembl 74_37 -1 known frame_shift_del c.82 p.V28fs 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR84 HGNC ENSG00000139572 tier1 42 0 0.00 49 7 12.50 GPRASP1 0 genome.wustl.edu 37 X 101910953 101910953 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 101910953 101910953 C A SNP GPRASP1 ENST00000361600 human ensembl 74_37 +1 known silent c.2112 p.V704 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 tier1 - - 171 0 0.00 193 45 18.91 GPRC5C 0 genome.wustl.edu 37 17 72436873 72436873 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 72436873 72436873 C T SNP GPRC5C ENST00000392627 human ensembl 74_37 +1 known missense c.1093 p.R365W 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5C HGNC ENSG00000170412 tier1 rs143305891 - 71 0 0.00 41 11 21.15 GPRIN1 0 genome.wustl.edu 37 5 176025071 176025072 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 176025071 176025072 - C INS GPRIN1 ENST00000303991 human ensembl 74_37 -1 known frame_shift_ins c.1765_1764 p.K588fs 0.273:0.940 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 tier1 115 0 0.00 117 35 23.03 GPS1 0 genome.wustl.edu 37 17 80011149 80011149 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 80011149 80011149 G - DEL GPS1 ENST00000580627 human ensembl 74_37 +1 known frame_shift_del c.53 p.P20fs 1.000 NULL NULL - no_errors GPS1 HGNC ENSG00000169727 tier1 43 0 0.00 26 5 16.13 GREB1 0 genome.wustl.edu 37 2 11780527 11780527 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 11780527 11780527 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.5797 p.A1933T 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 136 0 0.00 125 27 17.76 GRID2 0 genome.wustl.edu 37 4 93225753 93225753 + RNA DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 93225753 93225753 A - DEL GRID2 ENST00000505687 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GRID2 HGNC ENSG00000152208 tier1 19 0 0.00 18 6 25.00 GRIK1 0 genome.wustl.edu 37 21 31311860 31311860 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 31311860 31311860 G A SNP GRIK1 ENST00000472429 human ensembl 74_37 -1 known rna NULL NULL 0.773 - - - no_errors GRIK1 HGNC ENSG00000171189 tier1 - - 14 0 0.00 27 7 20.59 GRIK2 0 genome.wustl.edu 37 6 102503432 102503432 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 102503432 102503432 A - DEL GRIK2 ENST00000421544 human ensembl 74_37 +1 known frame_shift_del c.2539 p.N849fs 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 tier1 112 0 0.00 119 30 20.13 GRIK3 0 genome.wustl.edu 37 1 37325480 37325480 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 37325480 37325480 G A SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.925 p.R309W 0.992 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 tier1 - - 65 0 0.00 86 19 18.10 GRIK4 0 genome.wustl.edu 37 11 120837934 120837934 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 120837934 120837934 C T SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.2297 p.A766V 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 tier1 - - 44 0 0.00 45 9 16.67 GRIN1 0 genome.wustl.edu 37 9 140058244 140058244 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 140058244 140058244 C T SNP GRIN1 ENST00000371561 human ensembl 74_37 +1 known missense c.2477 p.A826V 0.999 prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC ENSG00000176884 tier1 - - 122 0 0.00 74 23 23.71 GRIN2A 0 genome.wustl.edu 37 16 9857380 9857380 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 9857380 9857380 T - DEL GRIN2A ENST00000330684 human ensembl 74_37 -1 known frame_shift_del c.4021 p.S1341fs 0.070 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 tier1 83 0 0.00 79 17 17.71 GRIN2B 0 genome.wustl.edu 37 12 13715900 13715900 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 13715900 13715900 A G SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known silent c.4272 p.L1424 0.989 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 tier1 - - 51 0 0.00 54 17 23.94 GRIN2C 0 genome.wustl.edu 37 17 72846402 72846402 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 72846402 72846402 C T SNP GRIN2C ENST00000293190 human ensembl 74_37 -1 known silent c.1434 p.V478 1.000 pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 tier1 - - 212 0 0.00 172 36 17.31 GRIN2C 0 genome.wustl.edu 37 17 72846864 72846864 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 72846864 72846864 C T SNP GRIN2C ENST00000293190 human ensembl 74_37 -1 known missense c.1156 p.V386M 0.998 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 tier1 rs200999765 - 48 0 0.00 44 11 20.00 GRM4 0 genome.wustl.edu 37 6 34026814 34026814 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 34026814 34026814 G A SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known silent c.964 p.L322 0.992 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 tier1 - - 41 0 0.00 25 7 21.88 GRM6 0 genome.wustl.edu 37 5 178416051 178416051 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 178416051 178416051 G A SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known silent c.1239 p.H413 0.996 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 tier1 rs112697894 - 32 0 0.00 32 9 21.95 GSK3B 0 genome.wustl.edu 37 3 119634948 119634948 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 119634948 119634948 G A SNP GSK3B ENST00000316626 human ensembl 74_37 -1 known missense c.551 p.P184L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors GSK3B HGNC ENSG00000082701 tier1 - - 42 0 0.00 49 11 18.33 GSN 0 genome.wustl.edu 37 9 124074484 124074485 + RNA DEL TG TG - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 124074484 124074485 TG - DEL GSN ENST00000485767 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors GSN HGNC ENSG00000148180 tier1 31 0 0.00 32 4 11.11 GTF2F2 0 genome.wustl.edu 37 13 45781540 45781540 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 45781540 45781540 T - DEL GTF2F2 ENST00000494087 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GTF2F2 HGNC ENSG00000188342 tier1 13 0 0.00 21 6 22.22 GTF2IRD2 0 genome.wustl.edu 37 7 74212018 74212018 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 74212018 74212018 C T SNP GTF2IRD2 ENST00000405086 human ensembl 74_37 -1 known silent c.1833 p.S611 0.381 superfamily_RNaseH-like_dom pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2 HGNC ENSG00000196275 tier1 - - 74 0 0.00 54 10 15.62 GTF3C3 0 genome.wustl.edu 37 2 197657762 197657764 + In_Frame_Del DEL TCC TCC - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 197657762 197657764 TCC - DEL GTF3C3 ENST00000263956 human ensembl 74_37 -1 known in_frame_del c.329_327 p.E111in_frame_del 0.984:0.986:0.955 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 tier1 31 0 0.00 36 4 10.00 GUCY2D 0 genome.wustl.edu 37 17 7910804 7910804 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 7910804 7910804 C T SNP GUCY2D ENST00000254854 human ensembl 74_37 +1 known silent c.1524 p.D508 0.006 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors GUCY2D HGNC ENSG00000132518 tier1 rs200651999 - 156 0 0.00 152 28 15.56 GYLTL1B 0 genome.wustl.edu 37 11 45948373 45948373 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 45948373 45948373 C - DEL GYLTL1B ENST00000325468 human ensembl 74_37 +1 known frame_shift_del c.1276 p.R428fs 0.023 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 tier1 78 0 0.00 80 17 17.53 H2AFY2 0 genome.wustl.edu 37 10 71855480 71855480 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 71855480 71855480 C T SNP H2AFY2 ENST00000373255 human ensembl 74_37 +1 known missense c.659 p.T220I 1.000 pfam_Macro_dom,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom,prints_Histone_H2A - no_errors H2AFY2 HGNC ENSG00000099284 tier1 - - 52 0 0.00 49 10 16.95 HAGHL 0 genome.wustl.edu 37 16 784641 784641 + RNA DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 784641 784641 C - DEL HAGHL ENST00000569604 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors HAGHL HGNC ENSG00000103253 tier1 129 0 0.00 93 29 23.77 HAS2 0 genome.wustl.edu 37 8 122641122 122641122 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 122641122 122641122 G A SNP HAS2 ENST00000303924 human ensembl 74_37 -1 known silent c.459 p.H153 0.048 NULL pfam_Chitin_synth_fng - no_errors HAS2 HGNC ENSG00000170961 tier1 rs142376799 - 258 0 0.00 392 75 16.06 HAUS3 0 genome.wustl.edu 37 4 2242634 2242634 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 2242634 2242634 T - DEL HAUS3 ENST00000243706 human ensembl 74_37 -1 known frame_shift_del c.40 p.I14fs 1.000 NULL NULL - no_errors HAUS3 HGNC ENSG00000214367 tier1 63 0 0.00 65 9 12.16 HCN4 0 genome.wustl.edu 37 15 73617774 73617774 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 73617774 73617774 C A SNP HCN4 ENST00000261917 human ensembl 74_37 -1 known silent c.1602 p.V534 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 tier1 - - 183 0 0.00 171 40 18.96 HCRTR1 0 genome.wustl.edu 37 1 32084832 32084832 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 32084832 32084832 C - DEL HCRTR1 ENST00000373706 human ensembl 74_37 +1 known frame_shift_del c.39 p.P15fs 0.996 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt - no_errors HCRTR1 HGNC ENSG00000121764 tier1 86 0 0.00 106 26 19.70 HDGF 0 genome.wustl.edu 37 1 156715104 156715104 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 156715104 156715104 A - DEL HDGF ENST00000368206 human ensembl 74_37 -1 known frame_shift_del c.197 p.F66fs 1.000 pfam_PWWP_dom pfam_PWWP_dom - no_errors HDGF HGNC ENSG00000143321 tier1 29 0 0.00 37 6 13.95 HDX 0 genome.wustl.edu 37 X 83724102 83724102 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 83724102 83724102 G T SNP HDX ENST00000297977 human ensembl 74_37 -1 known missense c.629 p.P210H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HDX HGNC ENSG00000165259 tier1 - - 131 0 0.00 188 40 17.54 HEATR5B 0 genome.wustl.edu 37 2 37297476 37297476 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 37297476 37297476 G A SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.824 p.A275V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 tier1 - - 117 0 0.00 110 28 20.29 HECA 0 genome.wustl.edu 37 6 139487988 139487988 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 139487988 139487988 T G SNP HECA ENST00000367658 human ensembl 74_37 +1 known missense c.839 p.L280R 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 tier1 - - 50 0 0.00 43 6 12.24 HELB 0 genome.wustl.edu 37 12 66704208 66704208 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 66704208 66704208 A - DEL HELB ENST00000247815 human ensembl 74_37 +1 known frame_shift_del c.1500 p.A503fs 0.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELB HGNC ENSG00000127311 tier1 85 0 0.00 112 18 13.85 HELQ 0 genome.wustl.edu 37 4 84374936 84374936 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 84374936 84374936 T C SNP HELQ ENST00000295488 human ensembl 74_37 -1 known missense c.460 p.K154E 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 tier1 - - 225 0 0.00 222 65 22.65 HERC1 0 genome.wustl.edu 37 15 63916430 63916430 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 63916430 63916430 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.13372 p.R4458C 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 81 0 0.00 76 24 24.00 HERC1 0 genome.wustl.edu 37 15 63958255 63958255 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 63958255 63958255 C T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known silent c.8418 p.S2806 0.876 superfamily_UBA-like pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 84 0 0.00 79 32 28.83 HERC1 0 genome.wustl.edu 37 15 63966685 63966685 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 63966685 63966685 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known nonsense c.7702 p.R2568* 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 33 0 0.00 25 11 30.56 HERC2 0 genome.wustl.edu 37 15 28422200 28422200 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 28422200 28422200 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.9328 p.H3110Y 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 60 0 0.00 66 32 32.65 HERC2 0 genome.wustl.edu 37 15 28474423 28474423 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 28474423 28474423 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.5190 p.V1730 0.945 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 183 0 0.00 211 22 9.44 HERC2 0 genome.wustl.edu 37 15 28478874 28478874 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 28478874 28478874 G 0 DEL HERC2 ENST00000261609 human ensembl 74_37 -1 known frame_shift_del c.4287 p.E1430fs 0.387 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 60 0 0.00 81 25 23.58 HERC2P9 0 genome.wustl.edu 37 15 28885451 28885451 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 28885451 28885451 C T SNP HERC2P9 ENST00000529353 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HERC2P9 HGNC ENSG00000206149 tier1 - - 24 0 0.00 15 7 31.82 HHAT 0 genome.wustl.edu 37 1 210577855 210577855 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 210577855 210577855 G A SNP HHAT ENST00000391905 human ensembl 74_37 +1 known silent c.516 p.T172 0.439 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors HHAT HGNC ENSG00000054392 tier1 rs111463628 - 50 0 0.00 49 18 26.87 HHIP 0 genome.wustl.edu 37 4 145636568 145636568 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 145636568 145636568 G A SNP HHIP ENST00000296575 human ensembl 74_37 +1 known missense c.1664 p.G555E 1.000 NULL pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 tier1 - - 97 0 0.00 104 33 24.09 HIAT1 0 genome.wustl.edu 37 1 100534122 100534123 + Frame_Shift_Del DEL TT TT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 100534122 100534123 TT - DEL HIAT1 ENST00000370152 human ensembl 74_37 +1 known frame_shift_del c.799_800 p.L269fs 1.000:1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIAT1 HGNC ENSG00000156875 tier1 98 0 0.00 110 25 18.52 HIC1 0 genome.wustl.edu 37 17 1959996 1959996 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 1959996 1959996 G A SNP HIC1 ENST00000322941 human ensembl 74_37 +1 known silent c.69 p.T23 1.000 superfamily_BTB/POZ_fold pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC1 HGNC ENSG00000177374 tier1 - - 23 0 0.00 9 4 30.77 HIST1H1T 0 genome.wustl.edu 37 6 26108110 26108110 + Missense_Mutation SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 26108110 26108110 G C SNP HIST1H1T ENST00000338379 human ensembl 74_37 -1 known missense c.212 p.A71G 0.997 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1T HGNC ENSG00000187475 tier1 rs143328743 - 107 0 0.00 85 22 20.56 HIST1H2BH 0 genome.wustl.edu 37 6 26252092 26252092 + Missense_Mutation SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 26252092 26252092 G C SNP HIST1H2BH ENST00000356350 human ensembl 74_37 +1 known missense c.214 p.E72Q 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BH HGNC ENSG00000197459 tier1 - - 165 0 0.00 173 31 15.20 HK1 0 genome.wustl.edu 37 10 71048517 71048517 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 71048517 71048517 G A SNP HK1 ENST00000448642 human ensembl 74_37 +1 known silent c.18 p.Q6 0.913 NULL pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 tier1 - - 55 0 0.00 48 9 15.79 HLA-B 0 genome.wustl.edu 37 6 31323362 31323363 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 31323362 31323363 - G INS HLA-B ENST00000412585 human ensembl 74_37 -1 known frame_shift_ins c.627_626 p.T211fs 0.002:0.142 pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 tier1 174 0 0.00 198 26 11.61 HLA-DOA 0 genome.wustl.edu 37 6 32975279 32975279 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 32975279 32975279 G - DEL HLA-DOA ENST00000229829 human ensembl 74_37 -1 known frame_shift_del c.422 p.P141fs 1.000 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DOA HGNC ENSG00000204252 tier1 170 0 0.00 196 39 16.60 HMBOX1 0 genome.wustl.edu 37 8 28876278 28876278 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 28876278 28876278 C T SNP HMBOX1 ENST00000444075 human ensembl 74_37 +1 known silent c.699 p.G233 0.998 superfamily_Lambda_DNA-bd_dom pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HMBOX1 HGNC ENSG00000147421 tier1 - - 52 0 0.00 104 19 15.32 HMMR 0 genome.wustl.edu 37 5 162917426 162917426 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 162917426 162917426 A - DEL HMMR ENST00000393915 human ensembl 74_37 +1 known frame_shift_del c.1993 p.K667fs 1.000 NULL NULL - no_errors HMMR HGNC ENSG00000072571 tier1 73 0 0.00 80 16 16.67 HNF1A 0 genome.wustl.edu 37 12 121432115 121432115 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 121432115 121432115 G - DEL HNF1A ENST00000257555 human ensembl 74_37 +1 known frame_shift_del c.862 p.P291fs 0.964 pfam_HNF1b_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 tier1 20 0 0.00 20 5 20.00 HNF1A 0 genome.wustl.edu 37 12 121438947 121438947 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 121438947 121438947 C T SNP HNF1A ENST00000257555 human ensembl 74_37 +1 known silent c.1848 p.S616 0.000 pfam_HNF1a_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 tier1 - - 44 0 0.00 42 10 19.23 HNRNPA2B1 0 genome.wustl.edu 37 7 26233316 26233316 + Splice_Site SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 26233316 26233316 T C SNP HNRNPA2B1 ENST00000354667 human ensembl 74_37 -1 known splice_site c.758-2 e9-2 1.000 - - - no_errors HNRNPA2B1 HGNC ENSG00000122566 tier1 - - 83 0 0.00 77 24 23.76 HNRNPA2B1 0 genome.wustl.edu 37 7 26235512 26235512 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 26235512 26235512 G A SNP HNRNPA2B1 ENST00000354667 human ensembl 74_37 -1 known missense c.712 p.R238C 1.000 NULL pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA2B1 HGNC ENSG00000122566 tier1 - - 85 0 0.00 83 25 23.15 HNRNPCL1 0 genome.wustl.edu 37 1 12907980 12907980 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 12907980 12907980 C T SNP HNRNPCL1 ENST00000317869 human ensembl 74_37 -1 known missense c.163 p.V55I 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC ENSG00000179172 203 0 0.00 222 15 6.33 HNRNPDL 0 genome.wustl.edu 37 4 83348625 83348625 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 83348625 83348625 T - DEL HNRNPDL ENST00000295470 human ensembl 74_37 -1 known frame_shift_del c.867 p.K289fs 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPDL HGNC ENSG00000152795 tier1 36 0 0.00 45 11 19.64 HNRNPU 0 genome.wustl.edu 37 1 245026965 245026967 + In_Frame_Del DEL CTT CTT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 245026965 245026967 CTT - DEL HNRNPU ENST00000283179 human ensembl 74_37 -1 known in_frame_del c.645_643 p.K215in_frame_del 1.000:1.000:1.000 NULL pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPU HGNC ENSG00000153187 tier1 33 0 0.00 31 4 11.43 HOMEZ 0 genome.wustl.edu 37 14 23745371 23745371 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 23745371 23745371 G A SNP HOMEZ ENST00000431326 human ensembl 74_37 -1 known missense c.1072 p.R358C 0.999 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOMEZ HGNC ENSG00000215271 tier1 rs200450330 - 148 0 0.00 148 48 24.49 HOXA9 0 genome.wustl.edu 37 7 27204711 27204711 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 27204711 27204711 C T SNP HOXA9 ENST00000343483 human ensembl 74_37 -1 known silent c.366 p.A122 1.000 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA9 HGNC ENSG00000078399 tier1 - - 26 0 0.00 35 5 12.50 HOXB7 0 genome.wustl.edu 37 17 46685449 46685449 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 46685449 46685449 G A SNP HOXB7 ENST00000239165 human ensembl 74_37 -1 known missense c.409 p.R137C 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB7 HGNC ENSG00000260027 tier1 - - 82 0 0.00 70 20 22.22 HOXC12 0 genome.wustl.edu 37 12 54348983 54348983 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 54348983 54348983 C T SNP HOXC12 ENST00000243103 human ensembl 74_37 +1 known silent c.270 p.D90 0.995 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC12 HGNC ENSG00000123407 tier1 - - 26 0 0.00 39 8 17.02 HOXC8 0 genome.wustl.edu 37 12 54403314 54403314 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 54403314 54403314 C T SNP HOXC8 ENST00000040584 human ensembl 74_37 +1 known silent c.246 p.H82 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors HOXC8 HGNC ENSG00000037965 tier1 - - 390 0 0.00 319 76 19.19 HOXC8 0 genome.wustl.edu 37 12 54403315 54403315 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 54403315 54403315 G A SNP HOXC8 ENST00000040584 human ensembl 74_37 +1 known missense c.247 p.G83R 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors HOXC8 HGNC ENSG00000037965 tier1 - - 390 0 0.00 314 84 21.11 HOXD1 0 genome.wustl.edu 37 2 177053883 177053883 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 177053883 177053883 G A SNP HOXD1 ENST00000331462 human ensembl 74_37 +1 known silent c.354 p.P118 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD1 HGNC ENSG00000128645 tier1 - - 23 0 0.00 19 4 17.39 HOXD13 0 genome.wustl.edu 37 2 176957922 176957922 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 176957922 176957922 C - DEL HOXD13 ENST00000392539 human ensembl 74_37 +1 putative frame_shift_del c.304 p.P103fs 0.844 pfam_HoxA13_N pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXD13 HGNC ENSG00000128714 tier1 46 0 0.00 39 14 26.42 HOXD8 0 genome.wustl.edu 37 2 176995417 176995417 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 176995417 176995417 C - DEL HOXD8 ENST00000313173 human ensembl 74_37 +1 known frame_shift_del c.323 p.P110fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD8 HGNC ENSG00000175879 tier1 120 0 0.00 94 21 18.26 HP 0 genome.wustl.edu 37 16 72094353 72094353 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 72094353 72094353 T C SNP HP ENST00000355906 human ensembl 74_37 +1 known missense c.785 p.V262A 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HP HGNC ENSG00000257017 tier1 - - 59 0 0.00 67 17 20.24 HPS4 0 genome.wustl.edu 37 22 26861447 26861447 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 26861447 26861447 G A SNP HPS4 ENST00000398141 human ensembl 74_37 -1 known silent c.816 p.H272 0.003 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 tier1 - - 76 0 0.00 96 26 21.31 HPSE2 0 genome.wustl.edu 37 10 100995502 100995503 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 100995502 100995503 - G INS HPSE2 ENST00000370552 human ensembl 74_37 -1 known frame_shift_ins c.58_57 p.A19fs 0.086:0.008 NULL pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 tier1 109 0 0.00 103 18 14.88 HR 0 genome.wustl.edu 37 8 21978733 21978733 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 21978733 21978733 C T SNP HR ENST00000381418 human ensembl 74_37 -1 known missense c.2212 p.D738N 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 tier1 - - 168 0 0.00 317 56 14.97 HS3ST1 0 genome.wustl.edu 37 4 11401016 11401016 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 11401016 11401016 C T SNP HS3ST1 ENST00000002596 human ensembl 74_37 -1 known missense c.614 p.R205H 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST1 HGNC ENSG00000002587 tier1 - - 33 0 0.00 25 10 28.57 HS3ST3A1 0 genome.wustl.edu 37 17 13503926 13503926 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 13503926 13503926 A G SNP HS3ST3A1 ENST00000284110 human ensembl 74_37 -1 known missense c.521 p.V174A 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3A1 HGNC ENSG00000153976 tier1 - - 29 0 0.00 27 7 20.59 HSD11B2 0 genome.wustl.edu 37 16 67470245 67470245 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 67470245 67470245 G - DEL HSD11B2 ENST00000326152 human ensembl 74_37 +1 known frame_shift_del c.758 p.V255fs 1.000 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH - no_errors HSD11B2 HGNC ENSG00000176387 tier1 199 0 0.00 202 33 14.04 HSF1 0 genome.wustl.edu 37 8 145533614 145533614 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 145533614 145533614 C T SNP HSF1 ENST00000529630 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HSF1 HGNC ENSG00000185122 tier1 - - 51 0 0.00 55 7 11.29 HSPB9 0 genome.wustl.edu 37 17 40274889 40274891 + In_Frame_Del DEL CTT CTT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 40274889 40274891 CTT - DEL HSPB9 ENST00000355067 human ensembl 74_37 +1 known in_frame_del c.21_23 p.F8in_frame_del 0.569:0.632:0.913 NULL pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom - no_errors HSPB9 HGNC ENSG00000197723 tier1 54 0 0.00 53 11 17.19 HSPG2 0 genome.wustl.edu 37 1 22186421 22186421 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 22186421 22186421 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.5089 p.R1697W 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 - - 33 0 0.00 40 5 11.11 HSPG2 0 genome.wustl.edu 37 1 22158149 22158149 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 22158149 22158149 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.11348 p.S3783F 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 22 0 0.00 22 4 15.38 HTR1F 0 genome.wustl.edu 37 3 88040823 88040823 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 88040823 88040823 T - DEL HTR1F ENST00000319595 human ensembl 74_37 +1 known frame_shift_del c.924 p.F310fs 0.753 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors HTR1F HGNC ENSG00000179097 tier1 38 0 0.00 29 12 29.27 HTR5A 0 genome.wustl.edu 37 7 154863038 154863038 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 154863038 154863038 C A SNP HTR5A ENST00000287907 human ensembl 74_37 +1 known silent c.429 p.I143 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 tier1 - - 65 0 0.00 67 10 12.99 HTT 0 genome.wustl.edu 37 4 3149910 3149910 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 3149910 3149910 C T SNP HTT ENST00000355072 human ensembl 74_37 +1 known silent c.3474 p.D1158 0.992 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 12 0 0.00 11 2 15.38 HUWE1 0 genome.wustl.edu 37 X 53615345 53615345 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 53615345 53615345 A - DEL HUWE1 ENST00000262854 human ensembl 74_37 -1 known frame_shift_del c.4611 p.F1537fs 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 25 0 0.00 21 6 22.22 HUWE1 0 genome.wustl.edu 37 X 53658442 53658442 + RNA DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 53658442 53658442 A - DEL HUWE1 ENST00000471676 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors HUWE1 HGNC ENSG00000086758 tier1 37 0 0.00 44 11 20.00 IARS2 0 genome.wustl.edu 37 1 220276857 220276857 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 220276857 220276857 T C SNP IARS2 ENST00000302637 human ensembl 74_37 +1 known missense c.1019 p.V340A 0.940 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS2 HGNC ENSG00000067704 tier1 - - 78 0 0.00 84 19 18.45 IBSP 0 genome.wustl.edu 37 4 88732888 88732888 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 88732888 88732888 G - DEL IBSP ENST00000226284 human ensembl 74_37 +1 known frame_shift_del c.780 p.E262fs 0.000 pfam_BSP_II pfam_BSP_II - no_errors IBSP HGNC ENSG00000029559 tier1 51 0 0.00 45 14 23.73 ICAM4 0 genome.wustl.edu 37 19 10397719 10397719 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 10397719 10397719 T - DEL ICAM4 ENST00000340992 human ensembl 74_37 +1 known frame_shift_del c.31 p.L13fs 0.004 NULL pfam_ICAM_N - no_errors ICAM4 HGNC ENSG00000105371 tier1 33 0 0.00 20 2 9.09 ICAM5 0 genome.wustl.edu 37 19 10404559 10404559 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 10404559 10404559 C T SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known missense c.1651 p.R551C 0.997 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 tier1 - - 103 0 0.00 104 23 18.11 ICAM5 0 genome.wustl.edu 37 19 10405144 10405144 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 10405144 10405144 C T SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known silent c.2058 p.S686 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 tier1 - - 68 0 0.00 48 14 22.58 IFFO1 0 genome.wustl.edu 37 12 6657974 6657974 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 6657974 6657974 C - DEL IFFO1 ENST00000356896 human ensembl 74_37 -1 known frame_shift_del c.1098 p.R367fs 1.000 NULL NULL - no_errors IFFO1 HGNC ENSG00000010295 tier1 30 0 0.00 28 5 15.15 IFT52 0 genome.wustl.edu 37 20 42249574 42249574 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 42249574 42249574 C T SNP IFT52 ENST00000460014 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IFT52 HGNC ENSG00000101052 tier1 - - 97 0 0.00 96 16 14.16 IGDCC3 0 genome.wustl.edu 37 15 65625736 65625736 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 65625736 65625736 C - DEL IGDCC3 ENST00000327987 human ensembl 74_37 -1 known frame_shift_del c.841 p.V281fs 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC3 HGNC ENSG00000174498 tier1 40 0 0.00 22 7 24.14 IGF1R 0 genome.wustl.edu 37 15 99478094 99478094 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 99478094 99478094 A G SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known missense c.2998 p.T1000A 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,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 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 tier1 - - 83 0 0.00 71 32 31.07 IGFN1 0 genome.wustl.edu 37 1 201195003 201195003 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 201195003 201195003 C T SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.10538 p.T3513M 0.853 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 tier1 rs6690992 - 42 0 0.00 43 17 28.33 IGSF10 0 genome.wustl.edu 37 3 151165659 151165659 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 151165659 151165659 T C SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.2110 p.M704V 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 tier1 - - 41 0 0.00 50 13 20.63 IGSF11 0 genome.wustl.edu 37 3 118623607 118623608 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 118623607 118623608 - A INS IGSF11 ENST00000393775 human ensembl 74_37 -1 known frame_shift_ins c.742_741 p.G247fs 1.000:1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF11 HGNC ENSG00000144847 tier1 220 0 0.00 234 30 11.36 IGSF9B 0 genome.wustl.edu 37 11 133789967 133789967 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 133789967 133789967 A G SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known missense c.3653 p.L1218P 0.997 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 tier1 - - 100 0 0.00 70 22 23.91 IKBKB 0 genome.wustl.edu 37 8 42176208 42176208 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 42176208 42176208 T - DEL IKBKB ENST00000522785 human ensembl 74_37 +1 known rna NULL NULL 0.111 - - - no_errors IKBKB HGNC ENSG00000104365 tier1 37 0 0.00 46 10 17.86 IL17RA 0 genome.wustl.edu 37 22 17583054 17583054 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 17583054 17583054 C T SNP IL17RA ENST00000319363 human ensembl 74_37 +1 known silent c.624 p.T208 0.000 NULL pfam_SEFIR - no_errors IL17RA HGNC ENSG00000177663 tier1 rs200114306 - 120 0 0.00 94 23 19.49 IL37 0 genome.wustl.edu 37 2 113671382 113671382 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 113671382 113671382 C 0 DEL IL37 ENST00000263326 human ensembl 74_37 +1 known frame_shift_del c.96 p.L34fs 0.000 NULL pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1,prints_IL-1RA/IL-36 - no_errors IL37 HGNC ENSG00000125571 137 0 0.00 223 14 5.91 IL3RA 0 genome.wustl.edu 37 X 1499940 1499941 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 1499940 1499941 - C INS IL3RA ENST00000331035 human ensembl 74_37 +1 known frame_shift_ins c.1005_1006 p.R336fs 0.062:0.063 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL3RA HGNC ENSG00000185291 tier1 377 0 0.00 306 75 19.69 IL5RA 0 genome.wustl.edu 37 3 3134028 3134028 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 3134028 3134028 T C SNP IL5RA ENST00000256452 human ensembl 74_37 -1 known missense c.874 p.N292D 0.004 superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL5RA HGNC ENSG00000091181 tier1 - - 100 0 0.00 78 21 21.21 IL9 0 genome.wustl.edu 37 5 135229823 135229823 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 135229823 135229823 T C SNP IL9 ENST00000274520 human ensembl 74_37 -1 known silent c.201 p.P67 0.207 pfam_IL-7/IL-9_fam,prints_IL-9 pfam_IL-7/IL-9_fam,prints_IL-9 - no_errors IL9 HGNC ENSG00000145839 tier1 - - 42 0 0.00 43 12 21.82 INF2 0 genome.wustl.edu 37 14 105179880 105179880 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 105179880 105179880 C T SNP INF2 ENST00000392634 human ensembl 74_37 +1 known missense c.2977 p.R993C 0.106 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 35 0 0.00 21 4 16.00 ING4 0 genome.wustl.edu 37 12 6761828 6761828 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 6761828 6761828 G A SNP ING4 ENST00000396807 human ensembl 74_37 -1 known missense c.500 p.T167I 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING4 HGNC ENSG00000111653 tier1 rs142380796 - 128 0 0.00 135 37 21.51 ING4 0 genome.wustl.edu 37 12 6761832 6761832 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 6761832 6761832 G A SNP ING4 ENST00000396807 human ensembl 74_37 -1 known missense c.496 p.R166C 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING4 HGNC ENSG00000111653 tier1 - - 135 0 0.00 164 16 8.89 INPP5D 0 genome.wustl.edu 37 2 234113146 234113146 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 234113146 234113146 C T SNP INPP5D ENST00000359570 human ensembl 74_37 +1 known missense c.3314 p.P1105L 0.954 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 tier1 - - 8 0 0.00 10 4 28.57 INPP5J 0 genome.wustl.edu 37 22 31522653 31522653 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 31522653 31522653 G A SNP INPP5J ENST00000331075 human ensembl 74_37 +1 known silent c.1440 p.T480 0.062 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5J HGNC ENSG00000185133 tier1 - - 334 0 0.00 290 69 19.22 INPPL1 0 genome.wustl.edu 37 11 71946964 71946964 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 71946964 71946964 C T SNP INPPL1 ENST00000298229 human ensembl 74_37 +1 known missense c.2813 p.P938L 0.995 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 tier1 rs144622174 - 64 0 0.00 71 26 26.80 INSM2 0 genome.wustl.edu 37 14 36005036 36005036 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 36005036 36005036 G A SNP INSM2 ENST00000307169 human ensembl 74_37 +1 known silent c.1578 p.S526 0.764 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 tier1 - - 34 0 0.00 45 13 22.41 INSM2 0 genome.wustl.edu 37 14 36005057 36005057 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 36005057 36005057 T - DEL INSM2 ENST00000307169 human ensembl 74_37 +1 known frame_shift_del c.1599 p.F535fs 0.624 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 tier1 41 0 0.00 52 11 17.46 INTS5 0 genome.wustl.edu 37 11 62416131 62416131 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 62416131 62416131 A - DEL INTS5 ENST00000330574 human ensembl 74_37 -1 known frame_shift_del c.1421 p.L474fs 1.000 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 tier1 226 0 0.00 167 43 20.48 IPO11 0 genome.wustl.edu 37 5 61802093 61802093 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 61802093 61802093 T - DEL IPO11 ENST00000409296 human ensembl 74_37 +1 known frame_shift_del c.1811 p.Q606fs 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO11 HGNC ENSG00000086200 tier1 23 0 0.00 29 2 6.45 IPO7 0 genome.wustl.edu 37 11 9431557 9431557 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 9431557 9431557 T G SNP IPO7 ENST00000379719 human ensembl 74_37 +1 known missense c.403 p.F135V 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ENSG00000205339 tier1 - - 66 0 0.00 66 22 25.00 IRAK1BP1 0 genome.wustl.edu 37 6 79607813 79607813 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 79607813 79607813 C T SNP IRAK1BP1 ENST00000369940 human ensembl 74_37 +1 known missense c.545 p.A182V 0.995 pfam_DUF541 pfam_DUF541 - no_errors IRAK1BP1 HGNC ENSG00000146243 tier1 - - 63 0 0.00 64 26 28.89 IRAK2 0 genome.wustl.edu 37 3 10242124 10242124 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 10242124 10242124 G A SNP IRAK2 ENST00000256458 human ensembl 74_37 +1 known missense c.349 p.A117T 0.056 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK2 HGNC ENSG00000134070 tier1 - - 130 0 0.00 123 50 28.90 IRF5 0 genome.wustl.edu 37 7 128588125 128588125 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 128588125 128588125 T C SNP IRF5 ENST00000357234 human ensembl 74_37 +1 known missense c.1130 p.I377T 1.000 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF5 HGNC ENSG00000128604 tier1 - - 133 0 0.00 108 28 20.59 IRS4 0 genome.wustl.edu 37 X 107979183 107979183 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 107979183 107979183 G A SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.392 p.A131V 0.756 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 tier1 - - 77 0 0.00 78 18 18.37 IRS4 0 genome.wustl.edu 37 X 107979335 107979335 + Nonsense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 107979335 107979335 G T SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known nonsense c.240 p.C80* 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 tier1 - - 133 0 0.00 124 39 23.93 IRX1 0 genome.wustl.edu 37 5 3599821 3599821 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 3599821 3599821 C T SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known silent c.759 p.H253 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 tier1 - - 65 0 0.00 72 11 13.25 ITFG1 0 genome.wustl.edu 37 16 47196555 47196555 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 47196555 47196555 C T SNP ITFG1 ENST00000320640 human ensembl 74_37 -1 known missense c.1474 p.A492T 0.999 NULL NULL - no_errors ITFG1 HGNC ENSG00000129636 tier1 - - 95 0 0.00 117 21 15.22 ITGA11 0 genome.wustl.edu 37 15 68606193 68606193 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 68606193 68606193 G A SNP ITGA11 ENST00000315757 human ensembl 74_37 -1 known missense c.2806 p.R936W 0.988 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 tier1 - - 39 0 0.00 59 17 22.37 ITGA8 0 genome.wustl.edu 37 10 15688893 15688893 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 15688893 15688893 C T SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known missense c.1159 p.G387S 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 tier1 rs142735096 - 37 0 0.00 55 9 14.06 ITGAE 0 genome.wustl.edu 37 17 3655042 3655042 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 3655042 3655042 C - DEL ITGAE ENST00000263087 human ensembl 74_37 -1 known frame_shift_del c.1795 p.A599fs 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 tier1 114 0 0.00 109 20 15.50 ITGAE 0 genome.wustl.edu 37 17 3655165 3655165 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 3655165 3655165 C T SNP ITGAE ENST00000263087 human ensembl 74_37 -1 known missense c.1672 p.G558S 0.755 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 tier1 - - 90 0 0.00 81 17 17.35 ITGAM 0 genome.wustl.edu 37 16 31341634 31341634 + Nonsense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 31341634 31341634 C A SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known nonsense c.3069 p.C1023* 1.000 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 ITGAM HGNC ENSG00000169896 tier1 - - 67 0 0.00 69 12 14.81 ITGB1BP1 0 genome.wustl.edu 37 2 9552384 9552384 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 9552384 9552384 T - DEL ITGB1BP1 ENST00000483795 human ensembl 74_37 -1 known frame_shift_del c.302 p.N101fs 0.000 NULL pfam_Integrin-bd_ICAP-1 - no_errors ITGB1BP1 HGNC ENSG00000119185 tier1 18 0 0.00 19 21 52.50 ITGB3BP 0 genome.wustl.edu 37 1 63912545 63912545 + RNA DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 63912545 63912545 G - DEL ITGB3BP ENST00000492655 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ITGB3BP HGNC ENSG00000142856 tier1 28 0 0.00 44 10 18.52 ITGBL1 0 genome.wustl.edu 37 13 102375346 102375346 + RNA SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 102375346 102375346 A G SNP ITGBL1 ENST00000415285 human ensembl 74_37 +1 known rna NULL NULL 0.088 - - - no_errors ITGBL1 HGNC ENSG00000198542 tier1 - - 40 0 0.00 80 19 19.19 ITIH4 0 genome.wustl.edu 37 3 52853933 52853933 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 52853933 52853933 C - DEL ITIH4 ENST00000434759 human ensembl 74_37 -1 known frame_shift_del c.1671 p.R558fs 0.000 NULL pfam_VWF_A,pfam_VIT,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH4 HGNC ENSG00000055955 tier1 218 0 0.00 173 39 18.40 ITIH5 0 genome.wustl.edu 37 10 7627910 7627910 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 7627910 7627910 G A SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known silent c.1062 p.S354 0.002 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 tier1 rs147313445 - 74 0 0.00 59 11 15.71 ITIH6 0 genome.wustl.edu 37 X 54783866 54783866 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 54783866 54783866 T C SNP ITIH6 ENST00000218436 human ensembl 74_37 -1 known missense c.2641 p.M881V 0.000 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 tier1 - - 96 0 0.00 119 19 13.77 ITPR2 0 genome.wustl.edu 37 12 26572103 26572103 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 26572103 26572103 C T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.6989 p.R2330H 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 tier1 rs201868488 - 52 0 0.00 75 17 18.48 ITPR2 0 genome.wustl.edu 37 12 26750044 26750044 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 26750044 26750044 C T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known silent c.4026 p.V1342 1.000 pfam_Ca-rel_channel,superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 tier1 - - 141 0 0.00 136 32 19.05 ITSN1 0 genome.wustl.edu 37 21 35094909 35094910 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 35094909 35094910 - T INS ITSN1 ENST00000381285 human ensembl 74_37 +1 known frame_shift_ins c.138_139 p.Q49fs 1.000:1.000 smart_EPS15_homology,pfscan_EPS15_homology pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 tier1 33 0 0.00 38 2 5.00 JAG2 0 genome.wustl.edu 37 14 105614701 105614701 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 105614701 105614701 G A SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known missense c.2096 p.A699V 0.218 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 tier1 - - 43 0 0.00 32 14 30.43 JARID2 0 genome.wustl.edu 37 6 15496721 15496722 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 15496721 15496722 - G INS JARID2 ENST00000341776 human ensembl 74_37 +1 known frame_shift_ins c.1265_1266 p.R425fs 0.959:0.963 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 tier1 111 0 0.00 95 25 20.83 JPH1 0 genome.wustl.edu 37 8 75227768 75227768 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 75227768 75227768 C T SNP JPH1 ENST00000342232 human ensembl 74_37 -1 known missense c.467 p.R156H 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC ENSG00000104369 tier1 - - 31 0 0.00 50 11 17.74 KAL1 0 genome.wustl.edu 37 X 8507773 8507773 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 8507773 8507773 G A SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known missense c.1381 p.R461W 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 tier1 rs144709908 - 67 0 0.00 71 14 16.47 KANK3 0 genome.wustl.edu 37 19 8398020 8398020 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 8398020 8398020 C T SNP KANK3 ENST00000593649 human ensembl 74_37 -1 known missense c.1814 p.R605K 0.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors KANK3 HGNC ENSG00000186994 tier1 - - 36 0 0.00 25 9 26.47 KAT2A 0 genome.wustl.edu 37 17 40265752 40265752 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 40265752 40265752 G - DEL KAT2A ENST00000225916 human ensembl 74_37 -1 known frame_shift_del c.2429 p.P810fs 1.000 pirsf_Hist_acetylase_PCAF,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain - no_errors KAT2A HGNC ENSG00000108773 tier1 65 0 0.00 64 14 17.95 KAT8 0 genome.wustl.edu 37 16 31131779 31131779 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 31131779 31131779 C T SNP KAT8 ENST00000448516 human ensembl 74_37 +1 known missense c.406 p.R136C 1.000 superfamily_Chromodomain-like pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC ENSG00000103510 tier1 - - 64 0 0.00 62 15 19.48 KBTBD7 0 genome.wustl.edu 37 13 41767067 41767067 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 41767067 41767067 G A SNP KBTBD7 ENST00000379483 human ensembl 74_37 -1 known nonsense c.1327 p.R443* 0.608 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD7 HGNC ENSG00000120696 tier1 - - 97 0 0.00 106 36 25.35 KCNB1 0 genome.wustl.edu 37 20 47989890 47989891 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 47989890 47989891 - G INS KCNB1 ENST00000371741 human ensembl 74_37 -1 known frame_shift_ins c.2207_2206 p.R736fs 1.000:1.000 prints_K_chnl_volt-dep_Kv2.1 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 tier1 111 0 0.00 106 16 13.11 KCNB2 0 genome.wustl.edu 37 8 73480224 73480224 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 73480224 73480224 C T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known silent c.255 p.N85 0.353 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv8 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 tier1 - - 93 0 0.00 128 16 11.11 KCNC4 0 genome.wustl.edu 37 1 110754666 110754666 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 110754666 110754666 G A SNP KCNC4 ENST00000369787 human ensembl 74_37 +1 known missense c.545 p.R182Q 0.996 prints_K_chnl_volt-dep_Kv3.4 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 tier1 - - 16 0 0.00 10 5 33.33 KCNH3 0 genome.wustl.edu 37 12 49936495 49936495 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 49936495 49936495 G A SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known missense c.452 p.G151D 1.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 tier1 - - 9 0 0.00 3 4 57.14 KCNH8 0 genome.wustl.edu 37 3 19492809 19492809 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 19492809 19492809 C T SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.1738 p.R580C 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 tier1 - - 71 0 0.00 81 27 25.00 KCNJ11 0 genome.wustl.edu 37 11 17409064 17409064 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 17409064 17409064 C T SNP KCNJ11 ENST00000339994 human ensembl 74_37 -1 known missense c.575 p.R192H 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.2 - no_errors KCNJ11 HGNC ENSG00000187486 22 0 0.00 26 4 12.90 KCNJ12 0 genome.wustl.edu 37 17 21319295 21319295 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 21319295 21319295 G A SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.641 p.R214H 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 tier1 - - 71 0 0.00 79 16 16.84 KCNJ4 0 genome.wustl.edu 37 22 38823864 38823864 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 38823864 38823864 C A SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known missense c.274 p.G92W 0.001 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 tier1 - - 43 0 0.00 26 8 23.53 KCNK1 0 genome.wustl.edu 37 1 233807091 233807091 + Missense_Mutation SNP T T A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 233807091 233807091 T A SNP KCNK1 ENST00000366621 human ensembl 74_37 +1 known missense c.826 p.F276I 1.000 pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl - no_errors KCNK1 HGNC ENSG00000135750 tier1 - - 44 0 0.00 40 11 21.57 KCNK6 0 genome.wustl.edu 37 19 38817914 38817915 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 38817914 38817915 - C INS KCNK6 ENST00000263372 human ensembl 74_37 +1 known frame_shift_ins c.813_814 p.P273fs 1.000:1.000 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK2,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK1 - no_errors KCNK6 HGNC ENSG00000099337 tier1 120 0 0.00 118 14 10.61 KCNMA1 0 genome.wustl.edu 37 10 79163663 79163663 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 79163663 79163663 G A SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.497 p.A166V 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 tier1 - - 46 0 0.00 42 12 22.22 KCNQ4 0 genome.wustl.edu 37 1 41289877 41289877 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 41289877 41289877 G A SNP KCNQ4 ENST00000347132 human ensembl 74_37 +1 known silent c.1239 p.P413 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ4 HGNC ENSG00000117013 tier1 - - 16 0 0.00 17 6 26.09 KCTD3 0 genome.wustl.edu 37 1 215793922 215793922 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 215793922 215793922 A - DEL KCTD3 ENST00000259154 human ensembl 74_37 +1 known frame_shift_del c.2410 p.S806fs 0.310 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 tier1 73 0 0.00 90 11 10.89 KCTD7 0 genome.wustl.edu 37 7 66274218 66274218 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 66274218 66274218 G A SNP KCTD7 ENST00000380828 human ensembl 74_37 +1 known missense c.1543 p.V515I 1.000 NULL pfam_VPS9,pfam_Znf_A20,smart_Znf_A20,smart_VPS9_subgr,pfscan_VPS9,pfscan_Znf_A20 - no_errors KCTD7 HGNC ENSG00000243335 tier1 - - 84 0 0.00 93 27 22.31 KDM2B 0 genome.wustl.edu 37 12 121881881 121881881 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 121881881 121881881 A G SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known silent c.2385 p.S795 0.001 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 tier1 - - 214 0 0.00 181 37 16.97 KDM4B 0 genome.wustl.edu 37 19 5143999 5143999 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 5143999 5143999 C T SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.2572 p.R858W 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 tier1 - - 121 0 0.00 98 19 16.24 KDM5A 0 genome.wustl.edu 37 12 416769 416769 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 416769 416769 G A SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known missense c.3781 p.R1261W 0.998 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 tier1 - - 84 0 0.00 102 34 25.00 KDM5C 0 genome.wustl.edu 37 X 53222180 53222180 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 53222180 53222180 C T SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.4652 p.C1551Y 0.995 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 tier1 - - 65 0 0.00 57 8 12.31 KDR 0 genome.wustl.edu 37 4 55980356 55980356 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 55980356 55980356 A G SNP KDR ENST00000263923 human ensembl 74_37 -1 known silent c.735 p.N245 0.999 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 tier1 - - 113 0 0.00 95 34 26.36 KEL 0 genome.wustl.edu 37 7 142640876 142640877 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 142640876 142640877 - G INS KEL ENST00000355265 human ensembl 74_37 -1 known frame_shift_ins c.1586_1585 p.Q529fs 0.000:0.000 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors KEL HGNC ENSG00000197993 tier1 34 0 0.00 49 6 10.91 KHDC3L 0 genome.wustl.edu 37 6 74072894 74072894 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 74072894 74072894 C T SNP KHDC3L ENST00000370367 human ensembl 74_37 +1 known silent c.246 p.N82 0.000 NULL NULL - no_errors KHDC3L HGNC ENSG00000203908 tier1 - - 162 0 0.00 141 31 18.02 KIAA0100 0 genome.wustl.edu 37 17 26965391 26965391 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 26965391 26965391 A G SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.1391 p.V464A 0.974 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 tier1 - - 48 0 0.00 47 11 18.64 KIAA0232 0 genome.wustl.edu 37 4 6863794 6863794 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 6863794 6863794 G T SNP KIAA0232 ENST00000307659 human ensembl 74_37 +1 known missense c.1685 p.G562V 1.000 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 tier1 - - 109 0 0.00 138 8 5.48 KIAA0430 0 genome.wustl.edu 37 16 15690712 15690712 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 15690712 15690712 C T SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known silent c.5067 p.S1689 0.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 tier1 - - 50 0 0.00 56 16 22.22 KIAA0930 0 genome.wustl.edu 37 22 45599010 45599010 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 45599010 45599010 C T SNP KIAA0930 ENST00000251993 human ensembl 74_37 -1 known missense c.728 p.S243N 1.000 pfam_DUF2045 pfam_DUF2045 - no_errors KIAA0930 HGNC ENSG00000100364 tier1 - - 328 0 0.00 313 68 17.80 KIAA0947 0 genome.wustl.edu 37 5 5463579 5463579 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 5463579 5463579 A G SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.4132 p.M1378V 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 11 0 0.00 23 4 14.81 KIAA1009 0 genome.wustl.edu 37 6 84865099 84865099 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 84865099 84865099 T - DEL KIAA1009 ENST00000403245 human ensembl 74_37 -1 known frame_shift_del c.2912 p.K971fs 0.996 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 tier1 45 0 0.00 76 16 17.39 KIAA1244 0 genome.wustl.edu 37 6 138584543 138584543 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 138584543 138584543 G A SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known silent c.1923 p.E641 1.000 superfamily_ARM-type_fold,smart_Sec7_dom pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 tier1 - - 164 0 0.00 118 43 26.71 KIAA1244 0 genome.wustl.edu 37 6 138619777 138619777 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 138619777 138619777 A C SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.3683 p.K1228T 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 tier1 - - 22 0 0.00 22 13 37.14 KIAA1324L 0 genome.wustl.edu 37 7 86569340 86569340 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 86569340 86569340 T 0 DEL KIAA1324L ENST00000450689 human ensembl 74_37 -1 known frame_shift_del c.833 p.N278fs 1.000 superfamily_Growth_fac_rcpt_N_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 56 0 0.00 70 9 11.39 KIAA1522 0 genome.wustl.edu 37 1 33234356 33234356 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 33234356 33234356 C T SNP KIAA1522 ENST00000401073 human ensembl 74_37 +1 known missense c.566 p.S189L 0.994 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 tier1 - - 28 0 0.00 31 6 16.22 KIAA1614 0 genome.wustl.edu 37 1 180914638 180914639 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 180914638 180914639 - T INS KIAA1614 ENST00000367588 human ensembl 74_37 +1 known frame_shift_ins c.3487_3488 p.P1164fs 0.003:0.009 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 tier1 55 0 0.00 58 8 12.12 KIAA1919 0 genome.wustl.edu 37 6 111587419 111587419 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 111587419 111587419 T C SNP KIAA1919 ENST00000368847 human ensembl 74_37 +1 known silent c.654 p.A218 0.049 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 tier1 - - 44 0 0.00 26 11 29.73 KIAA2022 0 genome.wustl.edu 37 X 73964076 73964076 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 73964076 73964076 C T SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.316 p.A106T 0.542 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 tier1 - - 107 0 0.00 116 30 20.55 KIF1C 0 genome.wustl.edu 37 17 4923869 4923869 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 4923869 4923869 C - DEL KIF1C ENST00000320785 human ensembl 74_37 +1 known frame_shift_del c.1833 p.P613fs 0.983 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 tier1 106 0 0.00 110 15 12.00 KIF21A 0 genome.wustl.edu 37 12 39734129 39734129 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 39734129 39734129 T - DEL KIF21A ENST00000395670 human ensembl 74_37 -1 known frame_shift_del c.2148 p.V717fs 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 tier1 14 0 0.00 15 7 31.82 KIF21B 0 genome.wustl.edu 37 1 200973992 200973992 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 200973992 200973992 T C SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.802 p.K268E 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 tier1 - - 73 0 0.00 76 14 15.56 KIF25 0 genome.wustl.edu 37 6 168445554 168445554 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 168445554 168445554 A G SNP KIF25 ENST00000354419 human ensembl 74_37 +1 known missense c.1033 p.R345G 0.454 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF25 HGNC ENSG00000125337 tier1 - - 145 0 0.00 123 34 21.66 KIF26A 0 genome.wustl.edu 37 14 104639485 104639485 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 104639485 104639485 G A SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known missense c.1592 p.R531Q 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 tier1 - - 52 0 0.00 24 13 35.14 KIF3C 0 genome.wustl.edu 37 2 26204118 26204118 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 26204118 26204118 A G SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known silent c.669 p.T223 0.006 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 tier1 - - 76 0 0.00 75 33 30.56 KIF4B 0 genome.wustl.edu 37 5 154393631 154393631 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 154393631 154393631 C T SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.212 p.P71L 0.978 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 tier1 - - 78 0 0.00 82 32 28.07 KIF5C 0 genome.wustl.edu 37 2 149679726 149679726 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 149679726 149679726 C T SNP KIF5C ENST00000435030 human ensembl 74_37 +1 known silent c.147 p.F49 0.927 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 tier1 - - 28 0 0.00 31 16 34.04 KIFC2 0 genome.wustl.edu 37 8 145694710 145694710 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 145694710 145694710 G - DEL KIFC2 ENST00000301332 human ensembl 74_37 +1 known frame_shift_del c.1170 p.Q392fs 0.009 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC ENSG00000167702 tier1 28 0 0.00 46 6 11.54 KIR2DL4 0 genome.wustl.edu 37 19 55324675 55324675 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 55324675 55324675 A - DEL KIR2DL4 ENST00000396284 human ensembl 74_37 +1 known frame_shift_del c.796 p.V269fs 0.003 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL4 HGNC ENSG00000189013 tier1 44 0 0.00 61 22 26.51 KIRREL 0 genome.wustl.edu 37 1 158047862 158047862 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 158047862 158047862 A G SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.284 p.D95G 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 tier1 - - 171 0 0.00 168 48 22.22 KIRREL2 0 genome.wustl.edu 37 19 36357143 36357143 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 36357143 36357143 C T SNP KIRREL2 ENST00000360202 human ensembl 74_37 +1 known missense c.1876 p.P626S 0.635 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 tier1 - - 113 0 0.00 103 32 23.70 KLC4 0 genome.wustl.edu 37 6 43033372 43033372 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 43033372 43033372 C T SNP KLC4 ENST00000259708 human ensembl 74_37 +1 known silent c.558 p.G186 0.006 pfam_Rabaptin_Rab5-bd_dom pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC4 HGNC ENSG00000137171 tier1 - - 60 0 0.00 42 15 26.32 KLC4 0 genome.wustl.edu 37 6 43038170 43038170 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 43038170 43038170 C T SNP KLC4 ENST00000259708 human ensembl 74_37 +1 known missense c.1012 p.R338W 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC4 HGNC ENSG00000137171 tier1 - - 79 0 0.00 56 14 19.72 KLF10 0 genome.wustl.edu 37 8 103663648 103663649 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 103663648 103663649 - G INS KLF10 ENST00000285407 human ensembl 74_37 -1 known frame_shift_ins c.912_911 p.V305fs 0.314:0.973 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF10 HGNC ENSG00000155090 tier1 106 0 0.00 149 17 10.24 KLF15 0 genome.wustl.edu 37 3 126062592 126062592 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 126062592 126062592 C T SNP KLF15 ENST00000296233 human ensembl 74_37 -1 known missense c.1229 p.R410H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 tier1 - - 100 0 0.00 90 18 16.67 KLHDC4 0 genome.wustl.edu 37 16 87760452 87760452 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 87760452 87760452 C T SNP KLHDC4 ENST00000270583 human ensembl 74_37 -1 known silent c.678 p.T226 0.000 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC4 HGNC ENSG00000104731 tier1 - - 87 0 0.00 82 21 20.39 KLHL31 0 genome.wustl.edu 37 6 53519206 53519206 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 53519206 53519206 C T SNP KLHL31 ENST00000370905 human ensembl 74_37 -1 known missense c.865 p.V289I 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL31 HGNC ENSG00000124743 tier1 - - 194 0 0.00 209 54 20.53 KLHL34 0 genome.wustl.edu 37 X 21675004 21675004 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 21675004 21675004 C T SNP KLHL34 ENST00000379499 human ensembl 74_37 -1 known silent c.903 p.P301 0.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL34 HGNC ENSG00000185915 tier1 - - 22 0 0.00 26 10 27.78 KLHL34 0 genome.wustl.edu 37 X 21675045 21675046 + Frame_Shift_Ins INS - - CC TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 21675045 21675046 - CC INS KLHL34 ENST00000379499 human ensembl 74_37 -1 known frame_shift_ins c.862_861 p.R287fs 0.005:0.005 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL34 HGNC ENSG00000185915 tier1 23 0 0.00 35 5 12.50 KLKB1 0 genome.wustl.edu 37 4 187178504 187178504 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 187178504 187178504 A - DEL KLKB1 ENST00000264690 human ensembl 74_37 +1 known frame_shift_del c.1710 p.D572fs 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A - no_errors KLKB1 HGNC ENSG00000164344 tier1 148 0 0.00 176 36 16.98 KREMEN1 0 genome.wustl.edu 37 22 29494865 29494865 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 29494865 29494865 C T SNP KREMEN1 ENST00000327813 human ensembl 74_37 +1 known silent c.276 p.D92 0.979 pirsf_Kremen,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN1 HGNC ENSG00000183762 tier1 - - 64 0 0.00 80 24 23.08 KRT121P 0 genome.wustl.edu 37 12 52649854 52649854 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 52649854 52649854 C T SNP KRT121P ENST00000529785 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors KRT121P HGNC ENSG00000135477 tier1 - - 131 0 0.00 128 23 15.23 KRT16 0 genome.wustl.edu 37 17 39766610 39766610 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 39766610 39766610 C T SNP KRT16 ENST00000301653 human ensembl 74_37 -1 known missense c.1253 p.R418H 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT16 HGNC ENSG00000186832 tier1 - - 130 0 0.00 167 11 6.18 KRT26 0 genome.wustl.edu 37 17 38926123 38926123 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 38926123 38926123 C T SNP KRT26 ENST00000335552 human ensembl 74_37 -1 known silent c.852 p.T284 0.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT26 HGNC ENSG00000186393 tier1 - - 158 0 0.00 171 39 18.57 KRT3 0 genome.wustl.edu 37 12 53189685 53189685 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 53189685 53189685 C T SNP KRT3 ENST00000309505 human ensembl 74_37 -1 known missense c.142 p.G48R 0.776 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT3 HGNC ENSG00000186442 tier1 - - 169 0 0.00 131 31 19.14 KRT85 0 genome.wustl.edu 37 12 52758883 52758883 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 52758883 52758883 G A SNP KRT85 ENST00000257901 human ensembl 74_37 -1 known silent c.492 p.C164 0.066 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 tier1 - - 95 0 0.00 102 12 10.53 KRT85 0 genome.wustl.edu 37 12 52760962 52760962 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 52760962 52760962 G A SNP KRT85 ENST00000257901 human ensembl 74_37 -1 known silent c.228 p.C76 0.099 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 tier1 - - 80 0 0.00 74 35 31.82 KRTAP10-5 0 genome.wustl.edu 37 21 46000366 46000366 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 46000366 46000366 G - DEL KRTAP10-5 ENST00000400372 human ensembl 74_37 -1 known frame_shift_del c.90 p.C31fs 0.957 NULL NULL - no_errors KRTAP10-5 HGNC ENSG00000241123 tier1 138 0 0.00 137 35 20.35 KRTAP4-1 0 genome.wustl.edu 37 17 39340769 39340769 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 39340769 39340769 C T SNP KRTAP4-1 ENST00000398472 human ensembl 74_37 -1 known missense c.338 p.R113H 1.000 NULL pfam_Keratin-assoc - no_errors KRTAP4-1 HGNC ENSG00000198443 tier1 - - 142 0 0.00 169 39 18.57 L1CAM 0 genome.wustl.edu 37 X 153134360 153134360 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 153134360 153134360 C T SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known missense c.1321 p.V441I 0.158 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 tier1 - - 197 0 0.00 152 49 24.38 LAG3 0 genome.wustl.edu 37 12 6887523 6887523 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 6887523 6887523 G A SNP LAG3 ENST00000203629 human ensembl 74_37 +1 known silent c.1545 p.E515 0.000 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors LAG3 HGNC ENSG00000089692 tier1 - - 118 0 0.00 83 29 25.89 LAG3 0 genome.wustl.edu 37 12 6887526 6887526 + Silent SNP C C G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 6887526 6887526 C G SNP LAG3 ENST00000203629 human ensembl 74_37 +1 known silent c.1548 p.P516 0.000 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors LAG3 HGNC ENSG00000089692 tier1 - - 121 0 0.00 84 31 26.96 LAMA1 0 genome.wustl.edu 37 18 7008509 7008509 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 7008509 7008509 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.4100 p.G1367D 0.994 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 53 0 0.00 59 14 19.18 LAMA3 0 genome.wustl.edu 37 18 21399888 21399888 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 21399888 21399888 T C SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.2231 p.L744P 0.968 NULL pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 tier1 - - 76 0 0.00 66 24 26.67 LAMA4 0 genome.wustl.edu 37 6 112486362 112486362 + Missense_Mutation SNP C C G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 112486362 112486362 C G SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.1668 p.K556N 1.000 NULL pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 tier1 - - 49 0 0.00 86 18 17.31 LAMB1 0 genome.wustl.edu 37 7 107638926 107638926 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 107638926 107638926 T - DEL LAMB1 ENST00000222399 human ensembl 74_37 -1 known frame_shift_del c.225 p.K75fs 0.994 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 tier1 100 0 0.00 77 40 34.19 LAMB2 0 genome.wustl.edu 37 3 49159634 49159634 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 49159634 49159634 A G SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known silent c.4743 p.R1581 0.999 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 tier1 - - 91 0 0.00 90 33 26.83 LAMB4 0 genome.wustl.edu 37 7 107688477 107688477 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 107688477 107688477 C A SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.4202 p.R1401M 0.001 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 tier1 - - 95 0 0.00 92 6 6.12 LAMC3 0 genome.wustl.edu 37 9 133901754 133901754 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 133901754 133901754 C T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known silent c.456 p.R152 0.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 tier1 - - 90 0 0.00 91 17 15.74 LARP1 0 genome.wustl.edu 37 5 154173546 154173546 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 154173546 154173546 G - DEL LARP1 ENST00000336314 human ensembl 74_37 +1 known frame_shift_del c.824 p.G276fs 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 tier1 63 0 0.00 76 16 17.39 LARP7 0 genome.wustl.edu 37 4 113578483 113578483 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 113578483 113578483 A - DEL LARP7 ENST00000324052 human ensembl 74_37 +1 known frame_shift_del c.1749 p.*583fs 1.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 tier1 14 0 0.00 13 9 40.91 LAS1L 0 genome.wustl.edu 37 X 64734803 64734803 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 64734803 64734803 C T SNP LAS1L ENST00000374811 human ensembl 74_37 -1 known missense c.1978 p.E660K 0.987 NULL pfam_Las1 - no_errors LAS1L HGNC ENSG00000001497 tier1 - - 43 0 0.00 39 15 27.78 LDLRAD2 0 genome.wustl.edu 37 1 22140998 22140998 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 22140998 22140998 G A SNP LDLRAD2 ENST00000344642 human ensembl 74_37 +1 known missense c.193 p.G65R 0.049 superfamily_CUB_dom pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,superfamily_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD2 HGNC ENSG00000187942 tier1 - - 91 0 0.00 69 24 25.81 LDLRAP1 0 genome.wustl.edu 37 1 25880440 25880440 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 25880440 25880440 G A SNP LDLRAP1 ENST00000374338 human ensembl 74_37 +1 known missense c.116 p.R39Q 1.000 NULL pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors LDLRAP1 HGNC ENSG00000157978 tier1 - - 53 0 0.00 67 16 19.28 LEPR 0 genome.wustl.edu 37 1 66031254 66031254 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 66031254 66031254 T C SNP LEPR ENST00000349533 human ensembl 74_37 +1 known silent c.6 p.I2 0.083 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 tier1 - - 31 0 0.00 37 10 21.28 LETM1 0 genome.wustl.edu 37 4 1816168 1816168 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 1816168 1816168 C T SNP LETM1 ENST00000302787 human ensembl 74_37 -1 known missense c.2203 p.A735T 0.063 NULL pfam_LETM1,pfscan_EF_hand_dom - no_errors LETM1 HGNC ENSG00000168924 tier1 - - 57 0 0.00 63 21 25.00 LGR4 0 genome.wustl.edu 37 11 27389971 27389971 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 27389971 27389971 A - DEL LGR4 ENST00000379214 human ensembl 74_37 -1 known frame_shift_del c.2299 p.S767fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR4 HGNC ENSG00000205213 tier1 133 0 0.00 118 19 13.87 LILRA4 0 genome.wustl.edu 37 19 54844948 54844948 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 54844948 54844948 A G SNP LILRA4 ENST00000291759 human ensembl 74_37 -1 known silent c.1395 p.F465 0.000 pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA4 HGNC ENSG00000239961 tier1 - - 61 0 0.00 60 22 26.83 LILRA4 0 genome.wustl.edu 37 19 54849873 54849873 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 54849873 54849873 T C SNP LILRA4 ENST00000291759 human ensembl 74_37 -1 known missense c.149 p.Q50R 0.964 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA4 HGNC ENSG00000239961 tier1 - - 115 0 0.00 125 38 23.31 LILRB1 0 genome.wustl.edu 37 19 55147949 55147949 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 55147949 55147949 G T SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known missense c.1658 p.S553I 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 tier1 - - 65 0 0.00 54 12 18.18 LIMCH1 0 genome.wustl.edu 37 4 41652581 41652581 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 41652581 41652581 G A SNP LIMCH1 ENST00000503057 human ensembl 74_37 +1 known missense c.2992 p.E998K 0.986 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 tier1 - - 36 0 0.00 28 8 22.22 LINC00691 0 genome.wustl.edu 37 3 24138719 24138719 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 24138719 24138719 G A SNP LINC00691 ENST00000436123 human ensembl 74_37 -1 known rna NULL NULL 0.074 - - - no_errors LINC00691 HGNC ENSG00000224074 tier1 - - 20 0 0.00 18 8 30.77 LINGO1 0 genome.wustl.edu 37 15 77907234 77907234 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 77907234 77907234 C T SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known missense c.1015 p.V339M 0.993 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 tier1 - - 59 0 0.00 42 9 17.65 LINGO2 0 genome.wustl.edu 37 9 27949047 27949047 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 27949047 27949047 T C SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.1623 p.I541M 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 tier1 - - 111 0 0.00 107 26 19.40 LINS 0 genome.wustl.edu 37 15 101109610 101109610 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 101109610 101109610 C T SNP LINS ENST00000314742 human ensembl 74_37 -1 known missense c.2107 p.V703I 0.000 NULL NULL - no_errors LINS HGNC ENSG00000140471 tier1 - - 149 0 0.00 123 22 15.17 LIPA 0 genome.wustl.edu 37 10 90984930 90984930 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 90984930 90984930 A - DEL LIPA ENST00000336233 human ensembl 74_37 -1 known frame_shift_del c.594 p.F198fs 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase - no_errors LIPA HGNC ENSG00000107798 tier1 272 0 0.00 303 64 17.44 LLGL1 0 genome.wustl.edu 37 17 18138798 18138799 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 18138798 18138799 - G INS LLGL1 ENST00000316843 human ensembl 74_37 +1 known frame_shift_ins c.1299_1300 p.R435fs 0.914:1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC ENSG00000131899 tier1 105 0 0.00 82 23 21.90 LMAN1 0 genome.wustl.edu 37 18 57013194 57013194 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 57013194 57013194 T - DEL LMAN1 ENST00000251047 human ensembl 74_37 -1 known frame_shift_del c.912 p.E305fs 0.898 superfamily_HMG_box_dom pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom - no_errors LMAN1 HGNC ENSG00000074695 tier1 78 0 0.00 102 15 12.82 LMBR1 0 genome.wustl.edu 37 7 156521402 156521402 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 156521402 156521402 T - DEL LMBR1 ENST00000354505 human ensembl 74_37 -1 known frame_shift_del c.974 p.K325fs 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt - no_errors LMBR1 HGNC ENSG00000105983 tier1 58 0 0.00 68 18 20.93 LMNA 0 genome.wustl.edu 37 1 156105681 156105681 + RNA DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 156105681 156105681 C - DEL LMNA ENST00000496738 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LMNA HGNC ENSG00000160789 tier1 53 0 0.00 44 5 10.20 LMNB1 0 genome.wustl.edu 37 5 126145904 126145904 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 126145904 126145904 G A SNP LMNB1 ENST00000261366 human ensembl 74_37 +1 known silent c.675 p.T225 0.070 pfam_IF pfam_IF,pfam_Lamin_tail_dom - no_errors LMNB1 HGNC ENSG00000113368 tier1 - - 101 0 0.00 129 46 26.29 LOC101926911 0 genome.wustl.edu 37 15 91575679 91575681 + RNA DEL CCT CCT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 91575679 91575681 CCT - DEL LOC101926911 ENST00000557804 human ensembl 74_37 +1 known rna NULL NULL 0.109:0.131:0.190 - - - no_errors AC068831.10 Clone_based_vega_gene ENSG00000214432 tier1 13 0 0.00 11 2 15.38 LOC101927550 0 genome.wustl.edu 37 7 98630575 98630575 + RNA DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 98630575 98630575 A - DEL LOC101927550 ENST00000360902 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC004893.11 Clone_based_vega_gene ENSG00000242687 tier1 26 0 0.00 29 6 17.14 LOC101928781 0 genome.wustl.edu 37 10 63212878 63212878 + RNA DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 63212878 63212878 C - DEL LOC101928781 ENST00000389640 human ensembl 74_37 +1 known rna NULL NULL 0.122 - - - no_errors RP11-809M12.1 Clone_based_vega_gene ENSG00000237233 tier1 40 0 0.00 54 12 18.18 LOC440518 0 genome.wustl.edu 37 19 22784189 22784189 + RNA SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 22784189 22784189 A C SNP LOC440518 ENST00000597408 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTC-457E21.3 Clone_based_vega_gene ENSG00000269332 tier1 - - 17 0 0.00 13 5 27.78 LOX 0 genome.wustl.edu 37 5 121411177 121411178 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 121411177 121411178 - G INS LOX ENST00000231004 human ensembl 74_37 -1 known frame_shift_ins c.800_799 p.Q267fs 1.000:1.000 pfam_Lysyl_oxidase,prints_Lysyl_oxidase pfam_Lysyl_oxidase,prints_Lysyl_oxidase - no_errors LOX HGNC ENSG00000113083 tier1 97 0 0.00 98 20 16.95 LPAR3 0 genome.wustl.edu 37 1 85331365 85331365 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 85331365 85331365 G A SNP LPAR3 ENST00000370611 human ensembl 74_37 -1 known silent c.439 p.L147 0.249 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG7,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt - no_errors LPAR3 HGNC ENSG00000171517 tier1 - - 328 0 0.00 339 102 23.13 LPHN1 0 genome.wustl.edu 37 19 14263660 14263660 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 14263660 14263660 C - DEL LPHN1 ENST00000340736 human ensembl 74_37 -1 known frame_shift_del c.3374 p.G1125fs 0.995 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 tier1 156 0 0.00 131 36 21.56 LPHN1 0 genome.wustl.edu 37 19 14273896 14273896 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 14273896 14273896 G A SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known silent c.732 p.S244 0.998 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like,prints_GPCR_2_latrophilin pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 tier1 - - 58 0 0.00 66 22 24.72 LPIN3 0 genome.wustl.edu 37 20 39977299 39977299 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 39977299 39977299 G - DEL LPIN3 ENST00000373257 human ensembl 74_37 +1 known frame_shift_del c.329 p.G112fs 0.917 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 tier1 66 0 0.00 65 6 8.45 LPL 0 genome.wustl.edu 37 8 19796948 19796948 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 19796948 19796948 C T SNP LPL ENST00000521994 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LPL HGNC ENSG00000175445 tier1 - - 23 0 0.00 26 8 23.53 LPPR1 0 genome.wustl.edu 37 9 104075142 104075142 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 104075142 104075142 C T SNP LPPR1 ENST00000374874 human ensembl 74_37 +1 known silent c.699 p.L233 0.997 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR1 Uniprot_gn ENSG00000148123 tier1 - - 111 0 0.00 151 45 22.96 LRFN3 0 genome.wustl.edu 37 19 36430697 36430697 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 36430697 36430697 G A SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.370 p.E124K 0.979 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 tier1 - - 66 0 0.00 59 9 13.24 LRFN3 0 genome.wustl.edu 37 19 36430710 36430710 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 36430710 36430710 G A SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.383 p.R128H 0.892 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 tier1 - - 72 0 0.00 62 12 16.22 LRFN4 0 genome.wustl.edu 37 11 66626495 66626495 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 66626495 66626495 G A SNP LRFN4 ENST00000309602 human ensembl 74_37 +1 known missense c.1280 p.R427Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN4 HGNC ENSG00000173621 tier1 - - 188 0 0.00 146 53 26.50 LRIT2 0 genome.wustl.edu 37 10 85984212 85984212 + Missense_Mutation SNP T T A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 85984212 85984212 T A SNP LRIT2 ENST00000538192 human ensembl 74_37 -1 known missense c.769 p.T257S 0.990 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT2 HGNC ENSG00000204033 tier1 - - 101 0 0.00 112 38 25.33 LRP1 0 genome.wustl.edu 37 12 57556255 57556256 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 57556255 57556256 - C INS LRP1 ENST00000243077 human ensembl 74_37 +1 known frame_shift_ins c.2358_2359 p.I788fs 0.969:1.000 NULL 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 136 0 0.00 102 13 11.30 LRP1 0 genome.wustl.edu 37 12 57584745 57584745 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 57584745 57584745 A G SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.7189 p.T2397A 1.000 pfam_LDLR_classB_rpt,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 - - 38 0 0.00 47 17 26.56 LRP5 0 genome.wustl.edu 37 11 68115451 68115451 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 68115451 68115451 C A SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known silent c.228 p.A76 0.929 pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 tier1 - - 167 0 0.00 114 42 26.92 LRPPRC 0 genome.wustl.edu 37 2 44126409 44126409 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 44126409 44126409 G A SNP LRPPRC ENST00000260665 human ensembl 74_37 -1 known silent c.3774 p.F1258 1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 tier1 - - 54 0 0.00 59 5 7.81 LRRC1 0 genome.wustl.edu 37 6 53660207 53660207 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 53660207 53660207 G A SNP LRRC1 ENST00000370888 human ensembl 74_37 +1 known silent c.153 p.L51 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC ENSG00000137269 tier1 - - 19 0 0.00 34 10 22.73 LRRC14 0 genome.wustl.edu 37 8 145746819 145746819 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 145746819 145746819 C T SNP LRRC14 ENST00000292524 human ensembl 74_37 +1 known missense c.1439 p.T480M 0.855 NULL NULL - no_errors LRRC14 HGNC ENSG00000160959 tier1 - - 66 0 0.00 82 14 14.58 LRRC16B 0 genome.wustl.edu 37 14 24532727 24532727 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 24532727 24532727 A G SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known silent c.2964 p.G988 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 tier1 - - 93 0 0.00 86 15 14.85 LRRC25 0 genome.wustl.edu 37 19 18507561 18507561 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 18507561 18507561 G A SNP LRRC25 ENST00000339007 human ensembl 74_37 -1 known silent c.213 p.N71 0.000 NULL NULL - no_errors LRRC25 HGNC ENSG00000175489 tier1 - - 53 0 0.00 40 21 34.43 LRRC30 0 genome.wustl.edu 37 18 7231997 7231997 + Silent SNP C C G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 7231997 7231997 C G SNP LRRC30 ENST00000383467 human ensembl 74_37 +1 known silent c.861 p.G287 0.048 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC30 HGNC ENSG00000206422 tier1 - - 316 0 0.00 302 65 17.71 LRRC32 0 genome.wustl.edu 37 11 76371763 76371763 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 76371763 76371763 C T SNP LRRC32 ENST00000260061 human ensembl 74_37 -1 known missense c.874 p.A292T 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 tier1 - - 60 0 0.00 53 11 17.19 LRRC41 0 genome.wustl.edu 37 1 46726877 46726877 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 46726877 46726877 T - DEL LRRC41 ENST00000496156 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LRRC41 HGNC ENSG00000132128 tier1 19 0 0.00 16 5 23.81 LRRC66 0 genome.wustl.edu 37 4 52861636 52861636 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 52861636 52861636 G A SNP LRRC66 ENST00000343457 human ensembl 74_37 -1 known missense c.1552 p.R518C 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 tier1 rs199599093 - 127 0 0.00 165 21 11.29 LRRIQ3 0 genome.wustl.edu 37 1 74507515 74507515 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 74507515 74507515 T C SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known missense c.1100 p.N367S 0.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 tier1 - - 50 0 0.00 51 14 21.54 LRRK2 0 genome.wustl.edu 37 12 40713870 40713870 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 40713870 40713870 A - DEL LRRK2 ENST00000298910 human ensembl 74_37 +1 known frame_shift_del c.4908 p.R1639fs 0.408 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 101 0 0.00 122 21 14.69 LRRN4CL 0 genome.wustl.edu 37 11 62455493 62455493 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 62455493 62455493 C T SNP LRRN4CL ENST00000317449 human ensembl 74_37 -1 known missense c.488 p.R163H 0.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4CL HGNC ENSG00000177363 tier1 - - 64 0 0.00 47 8 14.55 LTB 0 genome.wustl.edu 37 6 31548543 31548543 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 31548543 31548543 G A SNP LTB ENST00000429299 human ensembl 74_37 -1 known silent c.678 p.P226 0.159 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF_C pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF_C,prints_TNF - no_errors LTB HGNC ENSG00000227507 tier1 - - 54 0 0.00 57 30 34.48 LTK 0 genome.wustl.edu 37 15 41800306 41800306 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 41800306 41800306 C T SNP LTK ENST00000263800 human ensembl 74_37 -1 known missense c.1210 p.E404K 1.000 NULL 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 - - 85 0 0.00 82 17 17.17 LTV1 0 genome.wustl.edu 37 6 144184235 144184235 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 144184235 144184235 C T SNP LTV1 ENST00000367576 human ensembl 74_37 +1 known nonsense c.1129 p.R377* 0.986 pfam_LTV pfam_LTV - no_errors LTV1 HGNC ENSG00000135521 tier1 rs201919461 - 68 0 0.00 94 10 9.62 LUZP2 0 genome.wustl.edu 37 11 25004757 25004757 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 25004757 25004757 T C SNP LUZP2 ENST00000336930 human ensembl 74_37 +1 known missense c.683 p.L228S 0.412 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 tier1 - - 127 0 0.00 120 25 17.24 LZTS1 0 genome.wustl.edu 37 8 20107589 20107589 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 20107589 20107589 G A SNP LZTS1 ENST00000265801 human ensembl 74_37 -1 known missense c.1435 p.R479W 1.000 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 tier1 - - 119 0 0.00 169 16 8.65 MACF1 0 genome.wustl.edu 37 1 39827164 39827164 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 39827164 39827164 C T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.6400 p.R2134W 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 114 0 0.00 122 27 18.12 MAGI3 0 genome.wustl.edu 37 1 114201872 114201872 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 114201872 114201872 G A SNP MAGI3 ENST00000369611 human ensembl 74_37 +1 known missense c.2800 p.V934I 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI3 HGNC ENSG00000081026 tier1 - - 58 0 0.00 54 19 26.03 MALAT1 0 genome.wustl.edu 37 11 65272638 65272639 + RNA INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 65272638 65272639 - T INS MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 55 0 0.00 52 13 20.00 MAMDC2 0 genome.wustl.edu 37 9 72723268 72723268 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 72723268 72723268 C A SNP MAMDC2 ENST00000377182 human ensembl 74_37 +1 known missense c.290 p.P97H 0.996 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors MAMDC2 HGNC ENSG00000165072 tier1 - - 43 0 0.00 46 16 25.81 MAML2 0 genome.wustl.edu 37 11 95825914 95825914 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 95825914 95825914 C T SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known nonsense c.1281 p.W427* 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 tier1 - - 54 0 0.00 53 25 32.05 MAOB 0 genome.wustl.edu 37 X 43656372 43656372 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 43656372 43656372 C A SNP MAOB ENST00000378069 human ensembl 74_37 -1 known missense c.618 p.Q206H 1.000 pfam_Amino_oxidase,prints_Flavin_amine_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors MAOB HGNC ENSG00000069535 tier1 - - 56 0 0.00 53 13 19.70 MAP1B 0 genome.wustl.edu 37 5 71494154 71494154 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 71494154 71494154 C A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.4972 p.L1658I 0.974 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 80 0 0.00 96 27 21.95 MAP1S 0 genome.wustl.edu 37 19 17836789 17836789 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 17836789 17836789 C T SNP MAP1S ENST00000324096 human ensembl 74_37 +1 known missense c.596 p.A199V 0.000 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 tier1 - - 36 0 0.00 27 8 22.86 MAP2 0 genome.wustl.edu 37 2 210557554 210557554 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 210557554 210557554 A G SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.660 p.K220 0.000 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 72 0 0.00 90 21 18.92 MAP2K7 0 genome.wustl.edu 37 19 7976205 7976205 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 7976205 7976205 G A SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.1052 p.G351D 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K7 HGNC ENSG00000076984 tier1 - - 109 0 0.00 113 27 19.29 MAP4K3 0 genome.wustl.edu 37 2 39535143 39535143 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 39535143 39535143 C T SNP MAP4K3 ENST00000263881 human ensembl 74_37 -1 known missense c.1060 p.D354N 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 MAP4K3 HGNC ENSG00000011566 tier1 - - 68 0 0.00 96 29 23.20 MAP7D1 0 genome.wustl.edu 37 1 36636626 36636626 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 36636626 36636626 C - DEL MAP7D1 ENST00000373151 human ensembl 74_37 +1 known frame_shift_del c.101 p.P36fs 0.090 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 tier1 132 0 0.00 120 25 17.24 MAPK10 0 genome.wustl.edu 37 4 87080618 87080618 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 87080618 87080618 T C SNP MAPK10 ENST00000359221 human ensembl 74_37 -1 known silent c.69 p.G23 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom - no_errors MAPK10 HGNC ENSG00000109339 tier1 - - 55 0 0.00 55 21 27.63 MARCH6 0 genome.wustl.edu 37 5 10387155 10387155 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 10387155 10387155 G A SNP MARCH6 ENST00000274140 human ensembl 74_37 +1 known silent c.384 p.T128 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 tier1 - - 67 0 0.00 73 20 21.51 MARCH6 0 genome.wustl.edu 37 5 10402655 10402655 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 10402655 10402655 T C SNP MARCH6 ENST00000274140 human ensembl 74_37 +1 known missense c.1133 p.L378S 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 tier1 - - 265 0 0.00 299 57 16.01 MARCKS 0 genome.wustl.edu 37 6 114181210 114181210 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 114181210 114181210 A - DEL MARCKS ENST00000368635 human ensembl 74_37 +1 known frame_shift_del c.454 p.K155fs 1.000 pfam_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKS HGNC ENSG00000155130 tier1 27 0 0.00 29 9 23.68 MARCO 0 genome.wustl.edu 37 2 119726815 119726815 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 119726815 119726815 C T SNP MARCO ENST00000327097 human ensembl 74_37 +1 known silent c.177 p.G59 0.000 NULL pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 tier1 - - 85 0 0.00 102 34 25.00 MARS2 0 genome.wustl.edu 37 2 198570341 198570341 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 198570341 198570341 C T SNP MARS2 ENST00000282276 human ensembl 74_37 +1 known missense c.212 p.A71V 0.941 pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS2 HGNC ENSG00000247626 tier1 - - 33 0 0.00 34 7 17.07 MAST3 0 genome.wustl.edu 37 19 18245637 18245637 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 18245637 18245637 C T SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known missense c.1628 p.T543M 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 tier1 - - 47 0 0.00 63 11 14.86 MAST3 0 genome.wustl.edu 37 19 18249842 18249842 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 18249842 18249842 C T SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known missense c.2026 p.R676C 1.000 superfamily_Kinase-like_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 tier1 - - 11 0 0.00 7 6 46.15 MAST4 0 genome.wustl.edu 37 5 66440594 66440594 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 66440594 66440594 C T SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.2837 p.T946I 0.994 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 tier1 - - 22 0 0.00 26 12 31.58 MAT1A 0 genome.wustl.edu 37 10 82036157 82036157 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 82036157 82036157 C A SNP MAT1A ENST00000372213 human ensembl 74_37 -1 known missense c.743 p.G248V 1.000 pfam_S-AdoMet_synt_central,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT1A HGNC ENSG00000151224 tier1 - - 88 0 0.00 63 36 36.36 MATK 0 genome.wustl.edu 37 19 3778367 3778367 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 3778367 3778367 G - DEL MATK ENST00000395045 human ensembl 74_37 -1 known frame_shift_del c.1341 p.E448fs 0.876 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors MATK HGNC ENSG00000007264 tier1 75 0 0.00 91 18 16.51 MAZ 0 genome.wustl.edu 37 16 29821017 29821017 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 29821017 29821017 C - DEL MAZ ENST00000219782 human ensembl 74_37 +1 known frame_shift_del c.1436 p.P481fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 tier1 29 0 0.00 14 4 22.22 MBD6 0 genome.wustl.edu 37 12 57921401 57921401 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 57921401 57921401 C - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.2194 p.Q734fs 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 tier1 191 0 0.00 203 53 20.70 MBL1P 0 genome.wustl.edu 37 10 81667453 81667453 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 81667453 81667453 G A SNP MBL1P ENST00000453174 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MBL1P HGNC ENSG00000242600 tier1 rs112457702 - 49 0 0.00 68 22 24.44 MC2R 0 genome.wustl.edu 37 18 13885109 13885109 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 13885109 13885109 G A SNP MC2R ENST00000327606 human ensembl 74_37 -1 known missense c.409 p.R137W 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn - no_errors MC2R HGNC ENSG00000185231 tier1 rs104894660 - 58 0 0.00 43 9 17.31 MCC 0 genome.wustl.edu 37 5 112420983 112420983 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 112420983 112420983 G A SNP MCC ENST00000302475 human ensembl 74_37 -1 known nonsense c.853 p.Q285* 1.000 pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 tier1 - - 170 0 0.00 214 57 20.96 MCC 0 genome.wustl.edu 37 5 112720764 112720764 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 112720764 112720764 T C SNP MCC ENST00000408903 human ensembl 74_37 -1 putative missense c.316 p.K106E 1.000 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MCC HGNC ENSG00000171444 tier1 - - 101 0 0.00 98 31 24.03 MCEE 0 genome.wustl.edu 37 2 71337212 71337212 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 71337212 71337212 T - DEL MCEE ENST00000244217 human ensembl 74_37 -1 known frame_shift_del c.419 p.K140fs 1.000 pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase - no_errors MCEE HGNC ENSG00000124370 tier1 37 0 0.00 31 8 20.51 MCM3AP 0 genome.wustl.edu 37 21 47703567 47703567 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 47703567 47703567 G A SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.1405 p.R469C 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 tier1 rs148752994 - 53 0 0.00 61 16 20.78 MDGA2 0 genome.wustl.edu 37 14 47566079 47566080 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 47566079 47566080 - T INS MDGA2 ENST00000439988 human ensembl 74_37 -1 known frame_shift_ins c.1173_1172 p.S392fs 1.000:1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 tier1 88 0 0.00 106 24 18.46 MDH1B 0 genome.wustl.edu 37 2 207620231 207620231 + Splice_Site SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 207620231 207620231 T C SNP MDH1B ENST00000374412 human ensembl 74_37 -1 known splice_site c.414-2 e5-2 1.000 - - - no_errors MDH1B HGNC ENSG00000138400 tier1 - - 69 0 0.00 60 15 20.00 MED14 0 genome.wustl.edu 37 X 40588606 40588607 + RNA DEL AA AA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 40588606 40588607 AA - DEL MED14 ENST00000463072 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MED14 HGNC ENSG00000180182 tier1 31 0 0.00 41 7 14.58 MED25 0 genome.wustl.edu 37 19 50333113 50333113 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 50333113 50333113 C - DEL MED25 ENST00000312865 human ensembl 74_37 +1 known frame_shift_del c.596 p.P201fs 0.380 pfam_Mediator_Med25_VWA pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 tier1 20 0 0.00 20 11 35.48 MEFV 0 genome.wustl.edu 37 16 3304310 3304310 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 3304310 3304310 G A SNP MEFV ENST00000219596 human ensembl 74_37 -1 known missense c.758 p.A253V 0.000 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 tier1 - - 251 0 0.00 229 62 21.31 MEFV 0 genome.wustl.edu 37 16 3304438 3304438 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 3304438 3304438 C T SNP MEFV ENST00000219596 human ensembl 74_37 -1 known silent c.630 p.A210 0.002 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 tier1 - - 47 0 0.00 43 22 33.85 MEX3D 0 genome.wustl.edu 37 19 1556571 1556571 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 1556571 1556571 G A SNP MEX3D ENST00000388824 human ensembl 74_37 -1 known missense c.947 p.P316L 0.999 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3D HGNC ENSG00000181588 tier1 - - 50 0 0.00 33 8 19.51 MFSD6L 0 genome.wustl.edu 37 17 8700711 8700711 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 8700711 8700711 A G SNP MFSD6L ENST00000329805 human ensembl 74_37 -1 known silent c.1728 p.L576 0.976 NULL superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6L HGNC ENSG00000185156 tier1 - - 90 0 0.00 79 23 22.55 MGRN1 0 genome.wustl.edu 37 16 4732885 4732885 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 4732885 4732885 G A SNP MGRN1 ENST00000262370 human ensembl 74_37 +1 known missense c.1420 p.V474M 0.082 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC ENSG00000102858 tier1 - - 36 0 0.00 28 10 26.32 MIB2 0 genome.wustl.edu 37 1 1560249 1560249 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 1560249 1560249 G A SNP MIB2 ENST00000505820 human ensembl 74_37 +1 known missense c.839 p.R280Q 1.000 pfam_Mib_Herc2 pfam_Mib_Herc2,pfam_Ankyrin_rpt,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB2 HGNC ENSG00000197530 tier1 - - 56 0 0.00 44 12 21.43 MICAL1 0 genome.wustl.edu 37 6 109770679 109770679 + Silent SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 109770679 109770679 T G SNP MICAL1 ENST00000368952 human ensembl 74_37 -1 known silent c.1497 p.R499 0.991 superfamily_CH-domain pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 tier1 - - 154 0 0.00 143 20 12.27 MICU2 0 genome.wustl.edu 37 13 22077129 22077129 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 22077129 22077129 A - DEL MICU2 ENST00000382374 human ensembl 74_37 -1 known frame_shift_del c.869 p.F290fs 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU2 HGNC ENSG00000165487 tier1 41 0 0.00 32 8 20.00 MINA 0 genome.wustl.edu 37 3 97686393 97686393 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 97686393 97686393 C - DEL MINA ENST00000333396 human ensembl 74_37 -1 known frame_shift_del c.45 p.P16fs 0.002 NULL pfam_JmjC_dom,pfscan_JmjC_dom - no_errors MINA HGNC ENSG00000170854 tier1 32 0 0.00 38 5 11.63 MINK1 0 genome.wustl.edu 37 17 4798734 4798734 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 4798734 4798734 C T SNP MINK1 ENST00000355280 human ensembl 74_37 +1 known missense c.3175 p.R1059C 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,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 MINK1 HGNC ENSG00000141503 tier1 - - 55 0 0.00 39 12 23.53 MIR1208 0 genome.wustl.edu 37 8 129162433 129162433 + RNA DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 129162433 129162433 G 0 DEL MIR1208 ENST00000408334 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MIR1208 HGNC ENSG00000221261 60 0 0.00 105 12 10.26 MIR1303 0 genome.wustl.edu 37 5 154065370 154065371 + RNA DEL TT TT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 154065370 154065371 TT - DEL MIR1303 ENST00000408625 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors MIR1303 HGNC ENSG00000221552 tier1 61 0 0.00 49 17 25.76 MIR1303 0 genome.wustl.edu 37 5 154065381 154065383 + RNA DEL TTA TTA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TTA TTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 154065381 154065383 TTA - DEL MIR1303 ENST00000408625 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001:0.000 - - - no_errors MIR1303 HGNC ENSG00000221552 tier1 69 0 0.00 61 13 17.57 MIR644A 0 genome.wustl.edu 37 20 33054130 33054130 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 33054130 33054130 T - DEL MIR644A ENST00000385262 human ensembl 74_37 +1 known rna NULL NULL 0.030 - - - no_errors MIR644A HGNC ENSG00000207997 tier1 9 0 0.00 16 6 27.27 MIS18BP1 0 genome.wustl.edu 37 14 45706910 45706910 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 45706910 45706910 C A SNP MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known missense c.1158 p.Q386H 0.680 pfam_SANTA pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 tier1 - - 49 0 0.00 59 14 19.18 MLXIPL 0 genome.wustl.edu 37 7 73008616 73008616 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 73008616 73008616 C T SNP MLXIPL ENST00000313375 human ensembl 74_37 -1 known missense c.2428 p.A810T 0.636 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIPL HGNC ENSG00000009950 tier1 - - 131 0 0.00 100 23 18.70 MMRN2 0 genome.wustl.edu 37 10 88703570 88703570 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 88703570 88703570 C T SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known missense c.971 p.R324H 0.000 NULL pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 tier1 - - 78 0 0.00 76 21 21.43 MORC3 0 genome.wustl.edu 37 21 37709257 37709257 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 37709257 37709257 C T SNP MORC3 ENST00000400485 human ensembl 74_37 +1 known silent c.198 p.T66 0.485 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 tier1 - - 79 0 0.00 81 25 23.58 MOSPD1 0 genome.wustl.edu 37 X 134033048 134033048 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 134033048 134033048 T - DEL MOSPD1 ENST00000462060 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MOSPD1 HGNC ENSG00000101928 tier1 52 0 0.00 68 15 18.07 MOSPD2 0 genome.wustl.edu 37 X 14937957 14937957 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 14937957 14937957 G A SNP MOSPD2 ENST00000495110 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MOSPD2 HGNC ENSG00000130150 tier1 - - 96 0 0.00 126 29 18.71 MOSPD3 0 genome.wustl.edu 37 7 100212648 100212648 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 100212648 100212648 G A SNP MOSPD3 ENST00000223054 human ensembl 74_37 +1 known missense c.670 p.V224I 0.388 NULL pfam_MSP_dom,superfamily_PapD-like,pfscan_MSP_dom - no_errors MOSPD3 HGNC ENSG00000106330 tier1 - - 161 0 0.00 156 56 26.42 MOV10L1 0 genome.wustl.edu 37 22 50537979 50537979 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 50537979 50537979 C T SNP MOV10L1 ENST00000262794 human ensembl 74_37 +1 known silent c.390 p.G130 0.002 NULL superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 tier1 - - 55 0 0.00 48 21 30.00 MOXD1 0 genome.wustl.edu 37 6 132643997 132643997 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 132643997 132643997 C T SNP MOXD1 ENST00000367963 human ensembl 74_37 -1 known missense c.1126 p.E376K 1.000 superfamily_PHM/PNGase_F_dom pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors MOXD1 HGNC ENSG00000079931 tier1 rs146998322 - 22 0 0.00 20 9 31.03 MPO 0 genome.wustl.edu 37 17 56350265 56350266 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 56350265 56350266 - G INS MPO ENST00000340482 human ensembl 74_37 -1 known frame_shift_ins c.1732_1731 p.I577fs 0.797:0.799 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 tier1 206 0 0.00 221 61 21.63 MPP6 0 genome.wustl.edu 37 7 24705666 24705666 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 24705666 24705666 A 0 DEL MPP6 ENST00000222644 human ensembl 74_37 +1 known frame_shift_del c.910 p.K306fs 1.000 superfamily_SH3_domain pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP6 HGNC ENSG00000105926 117 0 0.00 149 12 7.45 MPPE1 0 genome.wustl.edu 37 18 11884550 11884550 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 11884550 11884550 C T SNP MPPE1 ENST00000588072 human ensembl 74_37 -1 known missense c.1085 p.C362Y 0.825 NULL pfam_PEstase_dom - no_errors MPPE1 HGNC ENSG00000154889 tier1 - - 62 0 0.00 50 22 30.56 MR1 0 genome.wustl.edu 37 1 181018211 181018211 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 181018211 181018211 C T SNP MR1 ENST00000367580 human ensembl 74_37 +1 known missense c.91 p.R31C 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors MR1 HGNC ENSG00000153029 tier1 - - 37 0 0.00 43 17 28.33 MRGPRF 0 genome.wustl.edu 37 11 68777238 68777238 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 68777238 68777238 G - DEL MRGPRF ENST00000320913 human ensembl 74_37 -1 novel frame_shift_del c.132 p.I45fs 0.000 NULL NULL - no_errors MRGPRF HGNC ENSG00000172935 tier1 20 0 0.00 16 6 27.27 MRGPRX3 0 genome.wustl.edu 37 11 18158906 18158906 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 18158906 18158906 G T SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known missense c.157 p.G53C 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 tier1 - - 134 0 0.00 155 35 18.42 MRGPRX4 0 genome.wustl.edu 37 11 18194972 18194972 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 18194972 18194972 C T SNP MRGPRX4 ENST00000314254 human ensembl 74_37 +1 known missense c.169 p.R57C 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX4 HGNC ENSG00000179817 tier1 rs201987699 - 104 0 0.00 132 12 8.33 MRPL24 0 genome.wustl.edu 37 1 156708136 156708136 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 156708136 156708136 G A SNP MRPL24 ENST00000361531 human ensembl 74_37 -1 known missense c.278 p.T93I 1.000 superfamily_Translation_prot_SH3-like,tigrfam_Ribosomal_L24 pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L24 - no_errors MRPL24 HGNC ENSG00000143314 tier1 - - 421 0 0.00 367 99 21.24 MRPL37 0 genome.wustl.edu 37 1 54671061 54671061 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 54671061 54671061 G A SNP MRPL37 ENST00000360840 human ensembl 74_37 +1 known silent c.624 p.T208 0.000 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPL37 HGNC ENSG00000116221 tier1 - - 90 0 0.00 80 24 23.08 MRPS28 0 genome.wustl.edu 37 8 80942415 80942417 + In_Frame_Del DEL GAA GAA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 80942415 80942417 GAA - DEL MRPS28 ENST00000276585 human ensembl 74_37 -1 known in_frame_del c.69_67 p.F23in_frame_del 0.000:0.000:0.000 NULL pfam_Ribosomal_S28_mit,superfamily_NA-bd_OB-fold - no_errors MRPS28 HGNC ENSG00000147586 tier1 40 0 0.00 81 15 15.62 MSANTD4 0 genome.wustl.edu 37 11 105880739 105880739 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 105880739 105880739 A - DEL MSANTD4 ENST00000301919 human ensembl 74_37 -1 known frame_shift_del c.561 p.F187fs 0.903 NULL NULL - no_errors MSANTD4 HGNC ENSG00000170903 tier1 84 0 0.00 81 12 12.90 MSH3 0 genome.wustl.edu 37 5 80088584 80088585 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 80088584 80088585 - A INS MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_ins c.2576_2577 p.N861fs 1.000:0.995 pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 tier1 31 0 0.00 37 17 31.48 MSH5 0 genome.wustl.edu 37 6 31726367 31726367 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 31726367 31726367 C A SNP MSH5 ENST00000375742 human ensembl 74_37 +1 known missense c.1237 p.L413I 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH5 HGNC ENSG00000204410 tier1 - - 54 0 0.00 79 9 10.23 MSRA 0 genome.wustl.edu 37 8 10102702 10102702 + Silent SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 10102702 10102702 T G SNP MSRA ENST00000317173 human ensembl 74_37 +1 known silent c.300 p.T100 0.003 pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA - no_errors MSRA HGNC ENSG00000175806 tier1 - - 101 0 0.00 157 13 7.65 MST1L 0 genome.wustl.edu 37 1 17085014 17085014 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 17085014 17085014 G A SNP MST1L ENST00000455405 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors MST1L HGNC ENSG00000186715 tier1 - - 97 0 0.00 127 9 6.62 MT1JP 0 genome.wustl.edu 37 16 56670909 56670909 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 56670909 56670909 T - DEL MT1JP ENST00000563395 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MT1JP HGNC ENSG00000255986 tier1 29 0 0.00 29 9 23.68 MTF2 0 genome.wustl.edu 37 1 93599783 93599783 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 93599783 93599783 T - DEL MTF2 ENST00000487263 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors MTF2 HGNC ENSG00000143033 tier1 26 0 0.00 26 5 16.13 MTHFD1L 0 genome.wustl.edu 37 6 151281486 151281486 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 151281486 151281486 G A SNP MTHFD1L ENST00000367321 human ensembl 74_37 +1 known missense c.1879 p.A627T 0.104 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 - - 31 0 0.00 25 17 40.48 MTM1 0 genome.wustl.edu 37 X 149809827 149809827 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 149809827 149809827 C T SNP MTM1 ENST00000370396 human ensembl 74_37 +1 known missense c.614 p.P205L 1.000 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTM1 HGNC ENSG00000171100 tier1 - - 130 0 0.00 118 24 16.90 MTMR12 0 genome.wustl.edu 37 5 32255814 32255814 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 32255814 32255814 C A SNP MTMR12 ENST00000382142 human ensembl 74_37 -1 known missense c.774 p.Q258H 0.991 NULL pfam_Myotubularin_assoc - no_errors MTMR12 HGNC ENSG00000150712 33 0 0.00 37 4 9.76 MTUS1 0 genome.wustl.edu 37 8 17504627 17504627 + RNA DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 17504627 17504627 A - DEL MTUS1 ENST00000518889 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors MTUS1 HGNC ENSG00000129422 tier1 33 0 0.00 51 11 17.74 MTUS2 0 genome.wustl.edu 37 13 29608233 29608233 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 29608233 29608233 C T SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2447 p.A816V 0.177 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 58 0 0.00 76 13 14.61 MUC16 0 genome.wustl.edu 37 19 9049778 9049778 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 9049778 9049778 A - DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_del c.31853 p.F10618fs 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 105 0 0.00 97 18 15.65 MUC16 0 genome.wustl.edu 37 19 9083008 9083008 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 9083008 9083008 T - DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_del c.8807 p.N2936fs 0.007 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 81 0 0.00 86 15 14.85 MUC16 0 genome.wustl.edu 37 19 9064310 9064310 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 9064310 9064310 G 0 DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_del c.23136 p.S7713fs 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 85 0 0.00 86 10 10.42 MUC6 0 genome.wustl.edu 37 11 1021246 1021246 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 1021246 1021246 G A SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known silent c.3558 p.F1186 0.996 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 - - 35 0 0.00 26 5 16.13 MVK 0 genome.wustl.edu 37 12 110019240 110019240 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 110019240 110019240 C - DEL MVK ENST00000228510 human ensembl 74_37 +1 known frame_shift_del c.412 p.A141fs 1.000 pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin - no_errors MVK HGNC ENSG00000110921 tier1 120 0 0.00 101 29 22.31 MYBPC2 0 genome.wustl.edu 37 19 50961915 50961915 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 50961915 50961915 G A SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known missense c.2410 p.G804R 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 tier1 - - 66 0 0.00 50 18 26.47 MYD88 0 genome.wustl.edu 37 3 38181987 38181988 + Frame_Shift_Del DEL TG TG - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 38181987 38181988 TG - DEL MYD88 ENST00000417037 human ensembl 74_37 +1 known frame_shift_del c.611_612 p.S207fs 1.000:1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_TIR_dom pfam_TIR_dom,pfam_Death_domain,superfamily_DEATH-like_dom,superfamily_TIR_dom,smart_Death_domain,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_Death_domain,pfscan_TIR_dom - no_errors MYD88 HGNC ENSG00000172936 tier1 115 0 0.00 119 32 21.19 MYH14 0 genome.wustl.edu 37 19 50753885 50753885 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 50753885 50753885 C T SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known silent c.1770 p.F590 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 tier1 - - 63 0 0.00 65 11 14.47 MYH14 0 genome.wustl.edu 37 19 50780037 50780037 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 50780037 50780037 C T SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.3704 p.T1235M 0.998 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 tier1 rs200988515 - 156 0 0.00 120 20 14.29 MYH6 0 genome.wustl.edu 37 14 23873938 23873938 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 23873938 23873938 G A SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known silent c.624 p.D208 0.953 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,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 tier1 - - 82 0 0.00 55 19 25.68 MYO15A 0 genome.wustl.edu 37 17 18024983 18024983 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 18024983 18024983 C - DEL MYO15A ENST00000205890 human ensembl 74_37 +1 known frame_shift_del c.2869 p.P958fs 0.190 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 tier1 36 0 0.00 30 7 18.92 MYO1A 0 genome.wustl.edu 37 12 57422573 57422573 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 57422573 57422573 T - DEL MYO1A ENST00000300119 human ensembl 74_37 -1 known frame_shift_del c.3098 p.K1033fs 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 tier1 103 0 0.00 78 52 40.00 MYO7A 0 genome.wustl.edu 37 11 76885962 76885962 + Splice_Site SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 76885962 76885962 T C SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known splice_site c.2094+2 e16+2 0.997 - - - no_errors MYO7A HGNC ENSG00000137474 tier1 - - 69 0 0.00 44 15 25.42 MYO7B 0 genome.wustl.edu 37 2 128394918 128394918 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 128394918 128394918 T C SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.6280 p.S2094P 0.997 pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 tier1 - - 12 0 0.00 12 4 25.00 MYO9A 0 genome.wustl.edu 37 15 72190814 72190814 + Missense_Mutation SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 72190814 72190814 G C SNP MYO9A ENST00000424560 human ensembl 74_37 -1 known missense c.4030 p.L1344V 0.783 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 tier1 - - 107 0 0.00 143 15 9.49 MYO9A 0 genome.wustl.edu 37 15 72190846 72190846 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 72190846 72190846 A G SNP MYO9A ENST00000424560 human ensembl 74_37 -1 known missense c.3998 p.L1333P 1.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 tier1 - - 113 0 0.00 147 14 8.70 MYO9B 0 genome.wustl.edu 37 19 17308625 17308625 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 17308625 17308625 G A SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known silent c.4071 p.T1357 0.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 tier1 - - 134 0 0.00 118 20 14.49 MYOD1 0 genome.wustl.edu 37 11 17741551 17741551 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 17741551 17741551 C T SNP MYOD1 ENST00000250003 human ensembl 74_37 +1 known silent c.222 p.G74 0.988 pfam_Basic,smart_Basic pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYOD1 HGNC ENSG00000129152 tier1 - - 10 0 0.00 15 14 48.28 MYOF 0 genome.wustl.edu 37 10 95119625 95119625 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 95119625 95119625 T C SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.3085 p.K1029E 1.000 smart_Peroxin/Ferlin pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 tier1 - - 117 0 0.00 127 26 16.99 MYOM3 0 genome.wustl.edu 37 1 24419572 24419572 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 24419572 24419572 G A SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known missense c.958 p.R320W 0.004 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom 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 MYOM3 HGNC ENSG00000142661 tier1 - - 78 0 0.00 42 23 34.85 MYRF 0 genome.wustl.edu 37 11 61547695 61547695 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 61547695 61547695 G A SNP MYRF ENST00000278836 human ensembl 74_37 +1 known missense c.2338 p.V780M 1.000 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 tier1 rs201384645 - 38 0 0.00 22 5 18.52 MYT1L 0 genome.wustl.edu 37 2 1890329 1890329 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 1890329 1890329 G A SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.2693 p.T898I 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 59 0 0.00 44 20 31.25 MYT1L 0 genome.wustl.edu 37 2 1926428 1926428 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 1926428 1926428 C T SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known silent c.1113 p.T371 0.912 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 28 0 0.00 27 11 28.95 MYT1L 0 genome.wustl.edu 37 2 1926821 1926821 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 1926821 1926821 G A SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known silent c.720 p.N240 0.995 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 100 0 0.00 114 12 9.52 N4BP2L1 0 genome.wustl.edu 37 13 32981416 32981416 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 32981416 32981416 C T SNP N4BP2L1 ENST00000380130 human ensembl 74_37 -1 known missense c.367 p.A123T 1.000 pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase - no_errors N4BP2L1 HGNC ENSG00000139597 tier1 - - 90 0 0.00 109 38 25.85 NAB2 0 genome.wustl.edu 37 12 57485450 57485450 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 57485450 57485450 C - DEL NAB2 ENST00000300131 human ensembl 74_37 +1 known frame_shift_del c.626 p.P211fs 1.000 pfam_NAB_co-repressor_dom pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 tier1 47 0 0.00 63 11 14.86 NALCN-AS1 0 genome.wustl.edu 37 13 101710454 101710454 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 101710454 101710454 G A SNP NALCN-AS1 ENST00000457843 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NALCN-AS1 HGNC ENSG00000233009 tier1 - - 29 0 0.00 22 12 35.29 NARFL 0 genome.wustl.edu 37 16 784095 784095 + RNA SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 784095 784095 A C SNP NARFL ENST00000562862 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NARFL HGNC ENSG00000103245 tier1 - - 16 0 0.00 7 5 41.67 NARFL 0 genome.wustl.edu 37 16 784278 784278 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 784278 784278 G - DEL NARFL ENST00000251588 human ensembl 74_37 -1 known frame_shift_del c.644 p.P215fs 1.000 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC ENSG00000103245 tier1 100 0 0.00 97 25 20.49 NAT8L 0 genome.wustl.edu 37 4 2062836 2062836 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 2062836 2062836 G A SNP NAT8L ENST00000423729 human ensembl 74_37 +1 known missense c.488 p.C163Y 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT8L HGNC ENSG00000185818 tier1 - - 39 0 0.00 50 5 9.09 NBEA 0 genome.wustl.edu 37 13 35619165 35619165 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 35619165 35619165 G A SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.608 p.R203Q 1.000 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 14 0 0.00 13 5 27.78 NCAM2 0 genome.wustl.edu 37 21 22707929 22707929 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 22707929 22707929 G A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.842 p.C281Y 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Neural_cell_adh pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 tier1 - - 57 0 0.00 40 14 25.93 NCAN 0 genome.wustl.edu 37 19 19337661 19337661 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 19337661 19337661 G - DEL NCAN ENST00000252575 human ensembl 74_37 +1 known frame_shift_del c.1439 p.R482fs 0.391 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 tier1 71 0 0.00 92 13 12.38 NCBP1 0 genome.wustl.edu 37 9 100412837 100412837 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 100412837 100412837 A G SNP NCBP1 ENST00000375147 human ensembl 74_37 +1 known missense c.950 p.N317S 1.000 superfamily_ARM-type_fold pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors NCBP1 HGNC ENSG00000136937 tier1 rs145175516 - 71 0 0.00 109 25 18.66 NCF4 0 genome.wustl.edu 37 22 37273731 37273731 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 37273731 37273731 C T SNP NCF4 ENST00000248899 human ensembl 74_37 +1 known missense c.886 p.R296W 0.851 pfam_OPR_PB1,smart_OPR_PB1 pfam_Phox,pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,smart_OPR_PB1,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox - no_errors NCF4 HGNC ENSG00000100365 tier1 - - 64 0 0.00 79 14 15.05 NCKAP5 0 genome.wustl.edu 37 2 133542671 133542671 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 133542671 133542671 G A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known silent c.1713 p.G571 0.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 tier1 - - 77 0 0.00 91 19 17.27 NCOA4 0 genome.wustl.edu 37 10 51586311 51586312 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 51586311 51586312 - C INS NCOA4 ENST00000452682 human ensembl 74_37 +1 known frame_shift_ins c.1787_1788 p.D599fs 0.143:0.005 NULL pfam_ARA70 - no_errors NCOA4 HGNC ENSG00000138293 tier1 150 0 0.00 175 23 11.62 NCOA4 0 genome.wustl.edu 37 10 51586311 51586312 + Frame_Shift_Ins INS - - CC TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 51586311 51586312 - CC INS NCOA4 ENST00000452682 human ensembl 74_37 +1 known frame_shift_ins c.1787_1788 p.D599fs 0.143:0.005 NULL pfam_ARA70 - no_errors NCOA4 HGNC ENSG00000138293 tier1 150 0 0.00 179 19 9.60 NCOA6 0 genome.wustl.edu 37 20 33345723 33345723 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 33345723 33345723 C T SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known silent c.828 p.Q276 0.999 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 tier1 - - 52 0 0.00 57 5 8.06 NCOR2 0 genome.wustl.edu 37 12 124887049 124887049 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 124887049 124887049 C T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.1541 p.R514H 0.995 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 - - 19 0 0.00 14 6 30.00 NDFIP1 0 genome.wustl.edu 37 5 141511526 141511527 + RNA DEL AA AA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 141511526 141511527 AA - DEL NDFIP1 ENST00000509436 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors NDFIP1 HGNC ENSG00000131507 tier1 32 0 0.00 31 10 24.39 NDRG4 0 genome.wustl.edu 37 16 58538175 58538175 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 58538175 58538175 A G SNP NDRG4 ENST00000394282 human ensembl 74_37 +1 known missense c.401 p.Q134R 1.000 pfam_Ndr pfam_Ndr - no_errors NDRG4 HGNC ENSG00000103034 tier1 - - 178 0 0.00 140 37 20.90 NDST4 0 genome.wustl.edu 37 4 115773883 115773884 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 115773883 115773884 - T INS NDST4 ENST00000264363 human ensembl 74_37 -1 known frame_shift_ins c.1814_1813 p.T605fs 1.000:1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 tier1 30 0 0.00 28 5 15.15 NDUFAF5 0 genome.wustl.edu 37 20 13789596 13789596 + RNA DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 13789596 13789596 A - DEL NDUFAF5 ENST00000464269 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NDUFAF5 HGNC ENSG00000101247 tier1 21 0 0.00 17 14 45.16 NDUFAF6 0 genome.wustl.edu 37 8 96044227 96044227 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 96044227 96044227 C T SNP NDUFAF6 ENST00000396124 human ensembl 74_37 +1 known missense c.202 p.R68W 1.000 pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth - no_errors NDUFAF6 HGNC ENSG00000156170 tier1 - - 81 0 0.00 131 25 16.03 NDUFAF6 0 genome.wustl.edu 37 8 96053842 96053842 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 96053842 96053842 C T SNP NDUFAF6 ENST00000396124 human ensembl 74_37 +1 known silent c.465 p.I155 0.998 pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth - no_errors NDUFAF6 HGNC ENSG00000156170 tier1 - - 62 0 0.00 105 17 13.93 NDUFV1 0 genome.wustl.edu 37 11 67377010 67377010 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 67377010 67377010 G A SNP NDUFV1 ENST00000322776 human ensembl 74_37 +1 known silent c.414 p.L138 1.000 pfam_NADH_UbQ_OxRdtase_51kDa_su,tigrfam_NADH-UbQ_OxRdtase_suF pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF - no_errors NDUFV1 HGNC ENSG00000167792 tier1 - - 277 0 0.00 236 62 20.81 NDUFV2 0 genome.wustl.edu 37 18 9122625 9122625 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 9122625 9122625 C T SNP NDUFV2 ENST00000318388 human ensembl 74_37 +1 known missense c.415 p.P139S 1.000 pfam_NuoE_like,superfamily_Thioredoxin-like_fold,tigrfam_NuoE_like pfam_NuoE_like,superfamily_Thioredoxin-like_fold,tigrfam_NuoE_like - no_errors NDUFV2 HGNC ENSG00000178127 tier1 - - 84 0 0.00 80 8 9.09 NEFM 0 genome.wustl.edu 37 8 24772270 24772270 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 24772270 24772270 C T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.964 p.R322C 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 tier1 - - 26 0 0.00 46 11 19.30 NEK7 0 genome.wustl.edu 37 1 198225610 198225610 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 198225610 198225610 A - DEL NEK7 ENST00000367383 human ensembl 74_37 +1 putative frame_shift_del c.351 p.K119fs 0.008 NULL superfamily_Kinase-like_dom - no_errors NEK7 HGNC ENSG00000151414 tier1 23 0 0.00 15 13 46.43 NEUROD1 0 genome.wustl.edu 37 2 182543157 182543157 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 182543157 182543157 C T SNP NEUROD1 ENST00000295108 human ensembl 74_37 -1 known missense c.431 p.R144H 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 tier1 - - 77 0 0.00 95 24 20.17 NEUROD2 0 genome.wustl.edu 37 17 37761906 37761906 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 37761906 37761906 G A SNP NEUROD2 ENST00000302584 human ensembl 74_37 -1 known missense c.947 p.S316L 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD2 HGNC ENSG00000171532 tier1 - - 44 0 0.00 39 12 23.53 NF2 0 genome.wustl.edu 37 22 30057232 30057232 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 30057232 30057232 C A SNP NF2 ENST00000338641 human ensembl 74_37 +1 known silent c.714 p.A238 0.987 pirsf_ERM,pfam_FERM_PH-like_C,pfscan_FERM_domain,prints_Ez/rad/moesin_like pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,prints_Tropomyosin - no_errors NF2 HGNC ENSG00000186575 tier1 - - 175 0 0.00 166 72 30.25 NFATC2 0 genome.wustl.edu 37 20 50049108 50049108 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 50049108 50049108 C T SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.2218 p.A740T 0.881 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 tier1 - - 33 0 0.00 47 13 21.67 NFIX 0 genome.wustl.edu 37 19 13189499 13189499 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 13189499 13189499 G A SNP NFIX ENST00000585575 human ensembl 74_37 +1 known missense c.1004 p.R335H 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIX HGNC ENSG00000008441 tier1 - - 27 0 0.00 17 7 29.17 NHS 0 genome.wustl.edu 37 X 17739685 17739685 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 17739685 17739685 C T SNP NHS ENST00000380060 human ensembl 74_37 +1 known missense c.977 p.T326M 1.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 tier1 rs200668785 - 64 0 0.00 82 20 19.61 NIN 0 genome.wustl.edu 37 14 51237236 51237236 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 51237236 51237236 T - DEL NIN ENST00000245441 human ensembl 74_37 -1 known frame_shift_del c.1304 p.N435fs 0.975 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 tier1 74 0 0.00 100 18 15.25 NIPAL2 0 genome.wustl.edu 37 8 99248383 99248383 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 99248383 99248383 C T SNP NIPAL2 ENST00000341166 human ensembl 74_37 -1 known missense c.436 p.G146S 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL2 HGNC ENSG00000104361 tier1 rs200008499 - 26 0 0.00 62 11 15.07 NIPBL 0 genome.wustl.edu 37 5 36985083 36985083 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 36985083 36985083 A - DEL NIPBL ENST00000282516 human ensembl 74_37 +1 known frame_shift_del c.1801 p.K603fs 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 tier1 57 0 0.00 66 15 18.52 NIPBL 0 genome.wustl.edu 37 5 36995692 36995693 + RNA INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 36995692 36995693 - T INS NIPBL ENST00000503274 human ensembl 74_37 +1 known rna NULL NULL 0.869:0.879 - - - no_errors NIPBL HGNC ENSG00000164190 tier1 34 0 0.00 41 3 6.82 NKD2 0 genome.wustl.edu 37 5 1036427 1036427 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 1036427 1036427 G A SNP NKD2 ENST00000296849 human ensembl 74_37 +1 known missense c.715 p.E239K 1.000 NULL pfscan_EF_hand_dom - no_errors NKD2 HGNC ENSG00000145506 tier1 - - 57 0 0.00 40 15 27.27 NKIRAS2 0 genome.wustl.edu 37 17 40174609 40174609 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 40174609 40174609 G A SNP NKIRAS2 ENST00000307641 human ensembl 74_37 +1 known missense c.287 p.R96H 0.995 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NKIRAS2 HGNC ENSG00000168256 tier1 - - 64 0 0.00 67 22 24.72 NLGN4X 0 genome.wustl.edu 37 X 5821721 5821721 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 5821721 5821721 G A SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.1058 p.P353L 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 tier1 - - 129 0 0.00 136 39 22.29 NLRP12 0 genome.wustl.edu 37 19 54299266 54299266 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 54299266 54299266 A G SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.2945 p.L982P 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 tier1 - - 51 0 0.00 51 9 15.00 NLRP3 0 genome.wustl.edu 37 1 247587800 247587800 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 247587800 247587800 C A SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known missense c.1055 p.P352H 0.982 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 tier1 - - 92 0 0.00 104 23 18.11 NLRP9 0 genome.wustl.edu 37 19 56243921 56243921 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 56243921 56243921 C T SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.1276 p.V426M 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 tier1 - - 159 0 0.00 128 42 24.71 NOL7 0 genome.wustl.edu 37 6 13620991 13620992 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 13620991 13620992 - A INS NOL7 ENST00000451315 human ensembl 74_37 +1 known frame_shift_ins c.706_707 p.Q239fs 0.542:0.993 NULL pfam_NUC129 - no_errors NOL7 HGNC ENSG00000225921 tier1 30 0 0.00 21 3 12.50 NONO 0 genome.wustl.edu 37 X 70519795 70519795 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 70519795 70519795 C A SNP NONO ENST00000276079 human ensembl 74_37 +1 known missense c.1285 p.P429T 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors NONO HGNC ENSG00000147140 tier1 - - 103 0 0.00 91 22 19.47 NOP14 0 genome.wustl.edu 37 4 2948228 2948228 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 2948228 2948228 C T SNP NOP14 ENST00000416614 human ensembl 74_37 -1 known missense c.1546 p.A516T 0.000 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 tier1 - - 93 0 0.00 75 23 23.47 NOX3 0 genome.wustl.edu 37 6 155764413 155764413 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 155764413 155764413 G A SNP NOX3 ENST00000159060 human ensembl 74_37 -1 known silent c.480 p.F160 0.860 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 tier1 - - 41 0 0.00 60 15 20.00 NOXO1 0 genome.wustl.edu 37 16 2030038 2030038 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 2030038 2030038 C T SNP NOXO1 ENST00000397280 human ensembl 74_37 -1 known silent c.561 p.Q187 0.006 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors NOXO1 HGNC ENSG00000196408 tier1 - - 20 0 0.00 19 11 36.67 NPAT 0 genome.wustl.edu 37 11 108044093 108044093 + Missense_Mutation SNP A A T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 108044093 108044093 A T SNP NPAT ENST00000278612 human ensembl 74_37 -1 known missense c.1618 p.L540I 0.009 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 tier1 - - 47 0 0.00 46 17 26.98 NPFFR2 0 genome.wustl.edu 37 4 73013327 73013327 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 73013327 73013327 A - DEL NPFFR2 ENST00000308744 human ensembl 74_37 +1 known frame_shift_del c.1367 p.R458fs 0.492 prints_NPFF_rcpt_2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 tier1 70 0 0.00 87 15 14.71 NR1D1 0 genome.wustl.edu 37 17 38253569 38253569 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 38253569 38253569 C T SNP NR1D1 ENST00000246672 human ensembl 74_37 -1 known missense c.119 p.S40N 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,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 NR1D1 HGNC ENSG00000126368 tier1 - - 57 0 0.00 41 20 32.26 NR2C2 0 genome.wustl.edu 37 3 15065690 15065690 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 15065690 15065690 C T SNP NR2C2 ENST00000323373 human ensembl 74_37 +1 known missense c.830 p.T277I 0.998 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 tier1 - - 81 0 0.00 98 22 18.33 NR2F1 0 genome.wustl.edu 37 5 92923699 92923699 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 92923699 92923699 C T SNP NR2F1 ENST00000327111 human ensembl 74_37 +1 known silent c.540 p.N180 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F1 HGNC ENSG00000175745 tier1 - - 110 0 0.00 123 12 8.89 NRBP2 0 genome.wustl.edu 37 8 144921094 144921094 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 144921094 144921094 G A SNP NRBP2 ENST00000442628 human ensembl 74_37 -1 novel silent c.705 p.T235 0.109 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NRBP2 HGNC ENSG00000185189 tier1 - - 15 0 0.00 17 8 32.00 NRCAM 0 genome.wustl.edu 37 7 107832204 107832204 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 107832204 107832204 G A SNP NRCAM ENST00000379028 human ensembl 74_37 -1 known silent c.1872 p.S624 0.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NRCAM HGNC ENSG00000091129 tier1 rs139719404 - 49 0 0.00 49 9 15.52 NRG3 0 genome.wustl.edu 37 10 84711300 84711300 + Missense_Mutation SNP T T A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 84711300 84711300 T A SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.1130 p.F377Y 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 tier1 - - 114 0 0.00 108 30 21.74 NSG1 0 genome.wustl.edu 37 4 4419143 4419143 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 4419143 4419143 C T SNP NSG1 ENST00000397958 human ensembl 74_37 +1 known missense c.539 p.A180V 1.000 pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp - no_errors NSG1 Uniprot_gn ENSG00000168824 tier1 - - 122 0 0.00 111 24 17.78 NT5DC1 0 genome.wustl.edu 37 6 116560165 116560165 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 116560165 116560165 T - DEL NT5DC1 ENST00000319550 human ensembl 74_37 +1 known frame_shift_del c.1131 p.F379fs 0.996 superfamily_HAD-like_dom pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom - no_errors NT5DC1 HGNC ENSG00000178425 tier1 79 0 0.00 114 12 9.52 NTN4 0 genome.wustl.edu 37 12 96107008 96107008 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 96107008 96107008 C - DEL NTN4 ENST00000343702 human ensembl 74_37 -1 known frame_shift_del c.973 p.A325fs 1.000 smart_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN4 HGNC ENSG00000074527 tier1 50 0 0.00 80 14 14.89 NUAK2 0 genome.wustl.edu 37 1 205273438 205273438 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 205273438 205273438 G - DEL NUAK2 ENST00000367157 human ensembl 74_37 -1 known frame_shift_del c.1027 p.L343fs 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK2 HGNC ENSG00000163545 tier1 46 0 0.00 58 10 14.71 NUDCD1 0 genome.wustl.edu 37 8 110308669 110308669 + Silent SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 110308669 110308669 T G SNP NUDCD1 ENST00000239690 human ensembl 74_37 -1 known silent c.403 p.R135 0.998 NULL pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDCD1 HGNC ENSG00000120526 tier1 - - 185 0 0.00 295 51 14.74 NUDT4 0 genome.wustl.edu 37 12 93793060 93793060 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 93793060 93793060 G A SNP NUDT4 ENST00000337179 human ensembl 74_37 +1 known missense c.451 p.A151T 0.993 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT4 HGNC ENSG00000173598 tier1 - - 137 0 0.00 195 18 8.45 NUMA1 0 genome.wustl.edu 37 11 71740259 71740259 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 71740259 71740259 A G SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known silent c.120 p.I40 0.991 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 tier1 - - 46 0 0.00 59 7 10.61 NUP37 0 genome.wustl.edu 37 12 102471194 102471194 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 102471194 102471194 G A SNP NUP37 ENST00000251074 human ensembl 74_37 -1 known missense c.628 p.P210S 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NUP37 HGNC ENSG00000075188 tier1 - - 87 0 0.00 105 24 18.60 NXNL1 0 genome.wustl.edu 37 19 17571525 17571525 + Missense_Mutation SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 17571525 17571525 G C SNP NXNL1 ENST00000301944 human ensembl 74_37 -1 known missense c.154 p.P52A 0.949 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors NXNL1 HGNC ENSG00000171773 tier1 - - 93 0 0.00 115 27 19.01 NXNL2 0 genome.wustl.edu 37 9 91150510 91150510 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 91150510 91150510 C T SNP NXNL2 ENST00000375854 human ensembl 74_37 +1 known missense c.161 p.A54V 1.000 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors NXNL2 HGNC ENSG00000130045 tier1 - - 31 0 0.00 39 7 15.22 NYAP1 0 genome.wustl.edu 37 7 100087052 100087052 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 100087052 100087052 G - DEL NYAP1 ENST00000423930 human ensembl 74_37 +1 known frame_shift_del c.1708 p.V572fs 1.000 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 tier1 78 0 0.00 70 19 21.35 NYAP2 0 genome.wustl.edu 37 2 226447072 226447072 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 226447072 226447072 C - DEL NYAP2 ENST00000272907 human ensembl 74_37 +1 known frame_shift_del c.939 p.K316fs 0.002 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 tier1 89 0 0.00 74 27 26.73 OBFC1 0 genome.wustl.edu 37 10 105659880 105659880 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 105659880 105659880 G A SNP OBFC1 ENST00000224950 human ensembl 74_37 -1 known nonsense c.397 p.R133* 0.606 pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_CST_STN1 pfam_CST_STN1_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_CST_STN1 - no_errors OBFC1 HGNC ENSG00000107960 tier1 rs149919798 - 97 0 0.00 109 22 16.79 OBSCN 0 genome.wustl.edu 37 1 228494865 228494865 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 228494865 228494865 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.12190 p.R4064C 0.037 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 86 0 0.00 90 18 16.67 OBSL1 0 genome.wustl.edu 37 2 220424007 220424007 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 220424007 220424007 C T SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.3166 p.G1056R 0.044 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 tier1 - - 172 0 0.00 152 36 19.15 OGG1 0 genome.wustl.edu 37 3 9798961 9798961 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 9798961 9798961 C - DEL OGG1 ENST00000302003 human ensembl 74_37 +1 known frame_shift_del c.1182 p.Q396fs 0.227 NULL pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg - no_errors OGG1 HGNC ENSG00000114026 tier1 58 0 0.00 76 18 19.15 OLFM2 0 genome.wustl.edu 37 19 9967586 9967586 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 9967586 9967586 C T SNP OLFM2 ENST00000264833 human ensembl 74_37 -1 known missense c.584 p.C195Y 1.000 pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM2 HGNC ENSG00000105088 tier1 - - 15 0 0.00 15 5 25.00 OLFML2A 0 genome.wustl.edu 37 9 127549310 127549310 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 127549310 127549310 C T SNP OLFML2A ENST00000373580 human ensembl 74_37 +1 known silent c.147 p.C49 1.000 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 tier1 - - 144 0 0.00 134 17 11.26 OOEP 0 genome.wustl.edu 37 6 74078982 74078982 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 74078982 74078982 A G SNP OOEP ENST00000370359 human ensembl 74_37 -1 known missense c.317 p.V106A 0.023 NULL NULL - no_errors OOEP HGNC ENSG00000203907 tier1 - - 58 0 0.00 48 11 18.33 OPHN1 0 genome.wustl.edu 37 X 67283963 67283964 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 67283963 67283964 - G INS OPHN1 ENST00000355520 human ensembl 74_37 -1 known frame_shift_ins c.1891_1890 p.K630fs 0.009:0.003 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 tier1 179 0 0.00 210 46 17.97 OPLAH 0 genome.wustl.edu 37 8 145114806 145114806 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 145114806 145114806 C T SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known missense c.130 p.A44T 0.637 pfam_Hydant_A_N pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 tier1 - - 81 0 0.00 95 19 16.67 OPN1LW 0 genome.wustl.edu 37 X 153416241 153416241 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 153416241 153416241 G A SNP OPN1LW ENST00000369951 human ensembl 74_37 +1 known missense c.226 p.A76T 0.991 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1LW HGNC ENSG00000102076 tier1 - - 122 0 0.00 131 18 12.08 OPN1LW 0 genome.wustl.edu 37 X 153418411 153418411 + Splice_Site SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 153418411 153418411 A G SNP OPN1LW ENST00000369951 human ensembl 74_37 +1 known splice_site c.410-2 e3-2 0.996 - - - no_errors OPN1LW HGNC ENSG00000102076 tier1 - - 61 0 0.00 38 14 26.92 OPN1MW 0 genome.wustl.edu 37 X 153453504 153453504 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 153453504 153453504 G A SNP OPN1MW ENST00000369935 human ensembl 74_37 +1 known missense c.358 p.V120M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1MW HGNC ENSG00000147380 tier1 - - 43 0 0.00 21 10 31.25 OPRK1 0 genome.wustl.edu 37 8 54163395 54163395 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 54163395 54163395 A G SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known missense c.203 p.V68A 1.000 prints_GPCR_Rhodpsn,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 tier1 - - 50 0 0.00 82 10 10.87 OR10G9 0 genome.wustl.edu 37 11 123894395 123894395 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 123894395 123894395 C T SNP OR10G9 ENST00000375024 human ensembl 74_37 +1 known missense c.676 p.R226W 0.020 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G9 HGNC ENSG00000236981 tier1 - - 84 0 0.00 119 29 19.59 OR10Q1 0 genome.wustl.edu 37 11 57995473 57995473 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 57995473 57995473 G A SNP OR10Q1 ENST00000316770 human ensembl 74_37 -1 known missense c.875 p.P292L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Q1 HGNC ENSG00000180475 tier1 - - 121 0 0.00 135 13 8.72 OR13C8 0 genome.wustl.edu 37 9 107331745 107331745 + Silent SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 107331745 107331745 G T SNP OR13C8 ENST00000335040 human ensembl 74_37 +1 known silent c.297 p.V99 0.447 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 OR13C8 HGNC ENSG00000186943 tier1 - - 92 0 0.00 116 34 22.67 OR1A2 0 genome.wustl.edu 37 17 3101283 3101283 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 3101283 3101283 C - DEL OR1A2 ENST00000381951 human ensembl 74_37 +1 known frame_shift_del c.471 p.H159fs 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A2 HGNC ENSG00000172150 tier1 108 0 0.00 103 23 18.25 OR2M5 0 genome.wustl.edu 37 1 248308797 248308797 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 248308797 248308797 T C SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known silent c.348 p.A116 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 tier1 - - 346 0 0.00 321 113 26.04 OR2T4 0 genome.wustl.edu 37 1 248525069 248525069 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 248525069 248525069 A C SNP OR2T4 ENST00000366475 human ensembl 74_37 +1 known missense c.187 p.I63L 0.498 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T4 HGNC ENSG00000196944 tier1 - - 204 0 0.00 193 48 19.92 OR2T5 0 genome.wustl.edu 37 1 248651905 248651905 + Missense_Mutation SNP A A T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 248651905 248651905 A T SNP OR2T5 ENST00000366473 human ensembl 74_37 +1 known missense c.16 p.R6W 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T5 HGNC ENSG00000203661 tier1 rs199833498 - 10 0 0.00 10 7 41.18 OR2V2 0 genome.wustl.edu 37 5 180582210 180582210 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 180582210 180582210 A G SNP OR2V2 ENST00000328275 human ensembl 74_37 +1 known missense c.268 p.R90G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2V2 HGNC ENSG00000182613 tier1 - - 159 0 0.00 157 37 19.07 OR4A5 0 genome.wustl.edu 37 11 51412089 51412089 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 51412089 51412089 G A SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known missense c.307 p.H103Y 0.436 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 OR4A5 HGNC ENSG00000221840 tier1 - - 76 0 0.00 61 16 20.78 OR4C15 0 genome.wustl.edu 37 11 55322675 55322675 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 55322675 55322675 C T SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.893 p.A298V 0.059 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 tier1 - - 135 0 0.00 151 43 22.16 OR4M2 0 genome.wustl.edu 37 15 22369023 22369024 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 22369023 22369024 0 G INS OR4M2 ENST00000332663 human ensembl 74_37 +1 putative frame_shift_ins c.448_449 p.F153fs 0.084:0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M2 HGNC ENSG00000182974 287 0 0.00 417 36 7.95 OR51Q1 0 genome.wustl.edu 37 11 5444082 5444082 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 5444082 5444082 A G SNP OR51Q1 ENST00000300778 human ensembl 74_37 +1 known missense c.652 p.I218V 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51Q1 HGNC ENSG00000167360 tier1 - - 141 0 0.00 139 35 20.11 OR56A4 0 genome.wustl.edu 37 11 6023294 6023294 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 6023294 6023294 A G SNP OR56A4 ENST00000330728 human ensembl 74_37 -1 known missense c.1085 p.L362P 0.062 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A4 HGNC ENSG00000183389 tier1 - - 47 0 0.00 44 11 20.00 OR5K1 0 genome.wustl.edu 37 3 98189198 98189198 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 98189198 98189198 G A SNP OR5K1 ENST00000332650 human ensembl 74_37 +1 known missense c.778 p.V260I 0.016 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 OR5K1 HGNC ENSG00000232382 tier1 - - 54 0 0.00 57 15 20.83 OR5T2 0 genome.wustl.edu 37 11 56000375 56000375 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 56000375 56000375 T C SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known missense c.287 p.K96R 0.048 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 tier1 - - 58 0 0.00 75 13 14.77 OR6C75 0 genome.wustl.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 55759192 55759192 T - DEL OR6C75 ENST00000343399 human ensembl 74_37 +1 known frame_shift_del c.298 p.F102fs 0.964 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 OR6C75 HGNC ENSG00000187857 tier1 102 0 0.00 116 24 17.14 OR8S1 0 genome.wustl.edu 37 12 48921844 48921844 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 48921844 48921844 C T SNP OR8S1 ENST00000310194 human ensembl 74_37 +1 known silent c.1038 p.C346 0.049 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8S1 HGNC ENSG00000197376 14 0 0.00 16 5 23.81 OSBPL10 0 genome.wustl.edu 37 3 31871604 31871604 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 31871604 31871604 C T SNP OSBPL10 ENST00000396556 human ensembl 74_37 -1 known silent c.657 p.T219 0.998 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL10 HGNC ENSG00000144645 tier1 - - 72 0 0.00 71 21 22.83 OSBPL1A 0 genome.wustl.edu 37 18 21819205 21819205 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 21819205 21819205 C T SNP OSBPL1A ENST00000319481 human ensembl 74_37 -1 known missense c.1423 p.E475K 0.995 NULL pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 tier1 rs141740509 - 65 0 0.00 74 23 23.71 OTOP3 0 genome.wustl.edu 37 17 72942794 72942794 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 72942794 72942794 G A SNP OTOP3 ENST00000328801 human ensembl 74_37 +1 known missense c.844 p.A282T 0.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 tier1 rs144880548 - 187 0 0.00 168 52 23.64 OTOS 0 genome.wustl.edu 37 2 241078682 241078682 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 241078682 241078682 C - DEL OTOS ENST00000319460 human ensembl 74_37 -1 known frame_shift_del c.175 p.A59fs 1.000 NULL NULL - no_errors OTOS HGNC ENSG00000178602 tier1 151 0 0.00 141 16 10.19 OXER1 0 genome.wustl.edu 37 2 42991089 42991089 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 42991089 42991089 C - DEL OXER1 ENST00000378661 human ensembl 74_37 -1 known frame_shift_del c.231 p.S78fs 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OXER1 HGNC ENSG00000162881 tier1 61 0 0.00 47 14 22.95 OXR1 0 genome.wustl.edu 37 8 107719359 107719359 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 107719359 107719359 A C SNP OXR1 ENST00000442977 human ensembl 74_37 +1 known missense c.1613 p.D538A 1.000 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors OXR1 HGNC ENSG00000164830 tier1 - - 33 0 0.00 65 8 10.96 P2RY2 0 genome.wustl.edu 37 11 72945484 72945484 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 72945484 72945484 G A SNP P2RY2 ENST00000311131 human ensembl 74_37 +1 known missense c.280 p.A94T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y2_rcpt,prints_GPCR_Rhodpsn,prints_P2Y4_rcpt - no_errors P2RY2 HGNC ENSG00000175591 tier1 - - 68 0 0.00 84 17 16.83 PABPC1 0 genome.wustl.edu 37 8 101716620 101716621 + Splice_Site INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 101716620 101716621 0 A INS PABPC1 ENST00000318607 human ensembl 74_37 -1 known splice_site_ins c.1819-3_1819-2 e14-2 1.000:0.011 - - - no_errors PABPC1 HGNC ENSG00000070756 180 0 0.00 301 22 6.81 PABPC5 0 genome.wustl.edu 37 X 90691415 90691415 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 90691415 90691415 G A SNP PABPC5 ENST00000312600 human ensembl 74_37 +1 known missense c.839 p.R280H 0.999 tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 tier1 - - 57 0 0.00 52 17 24.64 PACRG 0 genome.wustl.edu 37 6 163483223 163483224 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 163483223 163483224 - T INS PACRG ENST00000337019 human ensembl 74_37 +1 known frame_shift_ins c.333_334 p.D113fs 1.000:1.000 pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold - no_errors PACRG HGNC ENSG00000112530 tier1 73 0 0.00 92 15 14.02 PAEP 0 genome.wustl.edu 37 9 138454243 138454243 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 138454243 138454243 C - DEL PAEP ENST00000277508 human ensembl 74_37 +1 known frame_shift_del c.200 p.E69fs 0.137 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Blactoglobulin pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Blactoglobulin,prints_Lipocalin - no_errors PAEP HGNC ENSG00000122133 tier1 67 0 0.00 71 13 15.48 PAK1IP1 0 genome.wustl.edu 37 6 10709492 10709492 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 10709492 10709492 T C SNP PAK1IP1 ENST00000379568 human ensembl 74_37 +1 known missense c.986 p.I329T 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAK1IP1 HGNC ENSG00000111845 37 0 0.00 36 3 7.69 PAN2 0 genome.wustl.edu 37 12 56721241 56721241 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 56721241 56721241 G A SNP PAN2 ENST00000425394 human ensembl 74_37 -1 known missense c.826 p.R276C 1.000 superfamily_WD40_repeat_dom pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67 - no_errors PAN2 HGNC ENSG00000135473 tier1 - - 67 0 0.00 61 17 21.79 PAPD5 0 genome.wustl.edu 37 16 50261813 50261813 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 50261813 50261813 C T SNP PAPD5 ENST00000436909 human ensembl 74_37 +1 known nonsense c.1819 p.R607* 1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD5 HGNC ENSG00000121274 tier1 - - 97 0 0.00 87 17 16.35 PAPL 0 genome.wustl.edu 37 19 39597645 39597645 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 39597645 39597645 G A SNP PAPL ENST00000331256 human ensembl 74_37 +1 known missense c.1172 p.R391H 0.999 NULL pfam_PEstase_dom,superfamily_Purple_acid_Pase-like_N - no_errors PAPL Uniprot_gn ENSG00000183760 tier1 - - 89 0 0.00 60 21 25.93 PAPPA2 0 genome.wustl.edu 37 1 176564478 176564478 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 176564478 176564478 C T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.1738 p.R580W 1.000 superfamily_Notch_dom,smart_Notch_dom pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 93 0 0.00 115 22 16.06 PAQR8 0 genome.wustl.edu 37 6 52268754 52268754 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 52268754 52268754 A C SNP PAQR8 ENST00000360726 human ensembl 74_37 +1 known missense c.743 p.H248P 1.000 pfam_HlyIII-related pfam_HlyIII-related,superfamily_C-type_lectin_fold - no_errors PAQR8 HGNC ENSG00000170915 tier1 - - 56 0 0.00 70 21 23.08 PAQR9 0 genome.wustl.edu 37 3 142682042 142682042 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 142682042 142682042 C T SNP PAQR9 ENST00000340634 human ensembl 74_37 -1 known missense c.137 p.R46H 1.000 NULL pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 tier1 - - 12 0 0.00 10 5 33.33 PAQR9 0 genome.wustl.edu 37 3 142681986 142681986 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 142681986 142681986 G A SNP PAQR9 ENST00000340634 human ensembl 74_37 -1 known missense c.193 p.R65C 1.000 NULL pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 18 0 0.00 19 4 17.39 PARD3 0 genome.wustl.edu 37 10 34649052 34649052 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 34649052 34649052 C T SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known missense c.1843 p.A615T 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 tier1 - - 96 0 0.00 114 24 17.39 PARK2 0 genome.wustl.edu 37 6 161771164 161771164 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 161771164 161771164 G A SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known silent c.1365 p.R455 0.994 pfam_Znf_C6HC,smart_Znf_C6HC,pirsf_Parkin,prints_Parkin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 tier1 - - 45 0 0.00 58 5 7.81 PARK2 0 genome.wustl.edu 37 6 161807880 161807880 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 161807880 161807880 C T SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known silent c.1113 p.A371 0.000 pfam_Znf_C6HC,smart_Znf_C6HC,pirsf_Parkin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 tier1 - - 110 0 0.00 131 10 7.09 PARP10 0 genome.wustl.edu 37 8 145058596 145058596 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 145058596 145058596 A G SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known missense c.1462 p.C488R 0.995 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 tier1 - - 33 0 0.00 40 11 21.57 PARP12 0 genome.wustl.edu 37 7 139734101 139734101 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 139734101 139734101 G - DEL PARP12 ENST00000263549 human ensembl 74_37 -1 known frame_shift_del c.1355 p.T452fs 0.973 pfscan_WWE-dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP12 HGNC ENSG00000059378 tier1 17 0 0.00 17 2 10.53 PASD1 0 genome.wustl.edu 37 X 150791492 150791493 + Frame_Shift_Del DEL TA TA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 150791492 150791493 TA - DEL PASD1 ENST00000370357 human ensembl 74_37 +1 known frame_shift_del c.502_503 p.Y168fs 0.003:0.001 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 tier1 129 0 0.00 140 28 16.67 PASK 0 genome.wustl.edu 37 2 242046054 242046054 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 242046054 242046054 C - DEL PASK ENST00000358649 human ensembl 74_37 -1 known frame_shift_del c.3920 p.G1307fs 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 tier1 128 0 0.00 151 31 17.03 PATZ1 0 genome.wustl.edu 37 22 31731681 31731681 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 31731681 31731681 G A SNP PATZ1 ENST00000266269 human ensembl 74_37 -1 known nonsense c.1504 p.R502* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC ENSG00000100105 tier1 - - 117 0 0.00 108 26 19.40 PATZ1 0 genome.wustl.edu 37 22 31741055 31741056 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 31741055 31741056 - G INS PATZ1 ENST00000266269 human ensembl 74_37 -1 known frame_shift_ins c.534_533 p.G179fs 0.981:1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC ENSG00000100105 tier1 135 0 0.00 118 26 18.06 PAX9 0 genome.wustl.edu 37 14 37132621 37132621 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 37132621 37132621 C T SNP PAX9 ENST00000361487 human ensembl 74_37 +1 known missense c.524 p.T175M 1.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX9 HGNC ENSG00000198807 tier1 - - 82 0 0.00 95 17 15.18 PCDH11X 0 genome.wustl.edu 37 X 91873919 91873919 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 91873919 91873919 A G SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.4024 p.M1342V 0.677 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 - - 151 0 0.00 134 47 25.97 PCDH18 0 genome.wustl.edu 37 4 138442438 138442438 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 138442438 138442438 C T SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known silent c.3153 p.Q1051 0.949 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 tier1 - - 56 0 0.00 63 9 12.50 PCDHA1 0 genome.wustl.edu 37 5 140167229 140167229 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140167229 140167229 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.1354 p.A452T 0.940 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 tier1 - - 138 0 0.00 147 44 23.04 PCDHA11 0 genome.wustl.edu 37 5 140250403 140250403 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140250403 140250403 C T SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1715 p.A572V 0.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 tier1 - - 247 0 0.00 251 73 22.53 PCDHA13 0 genome.wustl.edu 37 5 140263126 140263126 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140263126 140263126 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.1273 p.V425M 0.948 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 tier1 - - 254 0 0.00 223 57 20.36 PCDHA3 0 genome.wustl.edu 37 5 140180965 140180965 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140180965 140180965 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.183 p.P61 0.998 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 tier1 - - 202 0 0.00 167 61 26.75 PCDHA5 0 genome.wustl.edu 37 5 140202785 140202785 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140202785 140202785 G A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known silent c.1425 p.T475 0.619 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 tier1 - - 149 0 0.00 179 44 19.73 PCDHA7 0 genome.wustl.edu 37 5 140214150 140214150 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140214150 140214150 C T SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.182 p.P61L 0.990 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 tier1 - - 208 0 0.00 217 62 22.22 PCDHA9 0 genome.wustl.edu 37 5 140230196 140230196 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140230196 140230196 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.2116 p.A706T 0.977 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 tier1 - - 154 0 0.00 167 26 13.47 PCDHAC1 0 genome.wustl.edu 37 5 140306566 140306566 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140306566 140306566 C T SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known missense c.89 p.T30M 0.580 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 tier1 - - 45 0 0.00 67 14 17.28 PCDHB10 0 genome.wustl.edu 37 5 140574069 140574069 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140574069 140574069 C T SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known silent c.1944 p.G648 0.193 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 tier1 - - 69 0 0.00 91 10 9.90 PCDHB10 0 genome.wustl.edu 37 5 140574284 140574284 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140574284 140574284 G T SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known missense c.2159 p.R720M 0.041 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 tier1 - - 138 0 0.00 142 50 26.04 PCDHB11 0 genome.wustl.edu 37 5 140581035 140581035 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140581035 140581035 A G SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.1688 p.Y563C 0.999 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 tier1 - - 32 0 0.00 33 6 15.00 PCDHB3 0 genome.wustl.edu 37 5 140481822 140481822 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140481822 140481822 G A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1589 p.R530H 0.016 pfam_Cadherin,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 PCDHB3 HGNC ENSG00000113205 tier1 - - 119 0 0.00 117 28 19.31 PCDHB6 0 genome.wustl.edu 37 5 140530844 140530844 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140530844 140530844 C A SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.1006 p.L336M 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 PCDHB6 HGNC ENSG00000113211 tier1 - - 56 0 0.00 87 13 13.00 PCDHGA12 0 genome.wustl.edu 37 5 140810583 140810583 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140810583 140810583 C T SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.257 p.T86M 0.001 pfam_Cadherin_N,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 PCDHGA12 HGNC ENSG00000253159 tier1 - - 152 0 0.00 156 46 22.77 PCDHGA3 0 genome.wustl.edu 37 5 140725049 140725050 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140725049 140725050 - A INS PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known frame_shift_ins c.1449_1450 p.N483fs 0.048:0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 tier1 163 0 0.00 147 33 18.33 PCDHGA5 0 genome.wustl.edu 37 5 140744572 140744572 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140744572 140744572 C T SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known silent c.675 p.T225 0.006 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 tier1 - - 99 0 0.00 81 23 22.12 PCDHGA7 0 genome.wustl.edu 37 5 140763804 140763804 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140763804 140763804 C T SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known silent c.1338 p.N446 0.580 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 tier1 - - 89 0 0.00 73 11 13.10 PCDHGA7 0 genome.wustl.edu 37 5 140764094 140764094 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140764094 140764094 G T SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.1628 p.S543I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 tier1 - - 128 0 0.00 122 34 21.79 PCSK1 0 genome.wustl.edu 37 5 95735793 95735793 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 95735793 95735793 C A SNP PCSK1 ENST00000311106 human ensembl 74_37 -1 known missense c.1294 p.G432C 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 tier1 - - 85 0 0.00 89 15 14.42 PDCL 0 genome.wustl.edu 37 9 125582668 125582668 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 125582668 125582668 C T SNP PDCL ENST00000259467 human ensembl 74_37 -1 known missense c.602 p.C201Y 1.000 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin - no_errors PDCL HGNC ENSG00000136940 tier1 - - 59 0 0.00 53 14 20.59 PDE9A 0 genome.wustl.edu 37 21 44195538 44195539 + RNA DEL AA AA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 44195538 44195539 AA - DEL PDE9A ENST00000460989 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors PDE9A HGNC ENSG00000160191 tier1 13 0 0.00 19 5 20.83 PDHB 0 genome.wustl.edu 37 3 58413867 58413867 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 58413867 58413867 A G SNP PDHB ENST00000302746 human ensembl 74_37 -1 known missense c.974 p.V325A 1.000 pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors PDHB HGNC ENSG00000168291 tier1 - - 34 0 0.00 50 10 16.67 PDK2 0 genome.wustl.edu 37 17 48186068 48186068 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 48186068 48186068 C T SNP PDK2 ENST00000503176 human ensembl 74_37 +1 known silent c.954 p.T318 0.980 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK2 HGNC ENSG00000005882 27 0 0.00 15 3 16.67 PDLIM3 0 genome.wustl.edu 37 4 186423510 186423510 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 186423510 186423510 C T SNP PDLIM3 ENST00000284770 human ensembl 74_37 -1 known missense c.1033 p.A345T 1.000 pfscan_Znf_LIM pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM3 HGNC ENSG00000154553 tier1 - - 113 0 0.00 101 37 26.81 PDLIM3 0 genome.wustl.edu 37 4 186435431 186435431 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 186435431 186435431 G A SNP PDLIM3 ENST00000284770 human ensembl 74_37 -1 known nonsense c.391 p.R131* 1.000 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM3 HGNC ENSG00000154553 tier1 - - 84 0 0.00 72 29 28.71 PDS5B 0 genome.wustl.edu 37 13 33344888 33344888 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 33344888 33344888 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.4161 p.N1390fs 0.002 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 tier1 16 0 0.00 16 6 27.27 PDZD2 0 genome.wustl.edu 37 5 32071517 32071518 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 32071517 32071518 - A INS PDZD2 ENST00000282493 human ensembl 74_37 +1 known frame_shift_ins c.2561_2562 p.D857fs 0.950:0.953 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 166 0 0.00 154 32 17.20 PDZD2 0 genome.wustl.edu 37 5 32074529 32074529 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 32074529 32074529 C - DEL PDZD2 ENST00000282493 human ensembl 74_37 +1 known frame_shift_del c.3317 p.Q1108fs 0.079 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 125 0 0.00 113 32 22.07 PDZRN3 0 genome.wustl.edu 37 3 73437221 73437222 + Splice_Site INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 73437221 73437222 0 T INS PDZRN3 ENST00000263666 human ensembl 74_37 -1 known splice_site_ins c.1417-2_1417-1 e8-1 1.000:1.000 - - - no_errors PDZRN3 HGNC ENSG00000121440 130 0 0.00 128 10 7.25 PEBP4 0 genome.wustl.edu 37 8 22785141 22785141 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 22785141 22785141 C T SNP PEBP4 ENST00000256404 human ensembl 74_37 -1 known silent c.87 p.P29 0.004 NULL pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP - no_errors PEBP4 HGNC ENSG00000134020 tier1 - - 95 0 0.00 135 18 11.76 PENK 0 genome.wustl.edu 37 8 57358293 57358293 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 57358293 57358293 C T SNP PENK ENST00000518770 human ensembl 74_37 -1 putative missense c.220 p.A74T 0.000 NULL pfam_Opioid_neupept,prints_Proenkphlin_A - no_errors PENK HGNC ENSG00000181195 tier1 - - 38 0 0.00 58 20 25.64 PEPD 0 genome.wustl.edu 37 19 33892708 33892708 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 33892708 33892708 C T SNP PEPD ENST00000244137 human ensembl 74_37 -1 known missense c.886 p.G296S 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors PEPD HGNC ENSG00000124299 tier1 - - 39 0 0.00 26 8 23.53 PEX13 0 genome.wustl.edu 37 2 61275793 61275793 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 61275793 61275793 C T SNP PEX13 ENST00000295030 human ensembl 74_37 +1 known missense c.1100 p.A367V 0.712 NULL pfam_Peroxin-13_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PEX13 HGNC ENSG00000162928 tier1 - - 93 0 0.00 111 23 17.04 PEX5 0 genome.wustl.edu 37 12 7362639 7362639 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 7362639 7362639 G A SNP PEX5 ENST00000434354 human ensembl 74_37 +1 known silent c.1785 p.L595 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5 HGNC ENSG00000139197 tier1 - - 45 0 0.00 38 9 19.15 PFAS 0 genome.wustl.edu 37 17 8161423 8161423 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 8161423 8161423 C T SNP PFAS ENST00000314666 human ensembl 74_37 +1 known silent c.1242 p.D414 0.017 superfamily_PurM_N-like,tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 tier1 - - 126 0 0.00 83 23 21.70 PGRMC1 0 genome.wustl.edu 37 X 118374397 118374397 + Missense_Mutation SNP A A T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 118374397 118374397 A T SNP PGRMC1 ENST00000217971 human ensembl 74_37 +1 known missense c.454 p.T152S 1.000 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd - no_errors PGRMC1 HGNC ENSG00000101856 tier1 - - 82 0 0.00 84 20 19.05 PHF3 0 genome.wustl.edu 37 6 64415953 64415953 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 64415953 64415953 A - DEL PHF3 ENST00000262043 human ensembl 74_37 +1 known frame_shift_del c.3402 p.V1137fs 0.986 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 tier1 40 0 0.00 52 10 16.13 PHF3 0 genome.wustl.edu 37 6 64421175 64421175 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 64421175 64421175 T C SNP PHF3 ENST00000262043 human ensembl 74_37 +1 known missense c.3914 p.M1305T 1.000 pfam_SPOC_C pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 tier1 - - 30 0 0.00 47 12 20.34 PHOX2A 0 genome.wustl.edu 37 11 71952223 71952223 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 71952223 71952223 C T SNP PHOX2A ENST00000298231 human ensembl 74_37 -1 known missense c.328 p.A110T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PHOX2A HGNC ENSG00000165462 tier1 - - 65 0 0.00 70 17 19.54 PI4K2A 0 genome.wustl.edu 37 10 99344577 99344577 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 99344577 99344577 C - DEL PI4K2A ENST00000555577 human ensembl 74_37 +1 known frame_shift_del c.117 p.P41fs 1.000 NULL pfam_PI3/4_kinase_cat_dom - no_errors PI4K2A HGNC ENSG00000155252 tier1 130 0 0.00 107 35 24.65 PI4KA 0 genome.wustl.edu 37 22 21119159 21119159 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 21119159 21119159 A C SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.2654 p.L885R 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 tier1 - - 66 0 0.00 68 22 24.44 PIK3C2B 0 genome.wustl.edu 37 1 204401452 204401452 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 204401452 204401452 G A SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known missense c.4031 p.T1344M 0.999 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 tier1 rs139230011 - 86 0 0.00 88 38 30.16 PIK3R1 0 genome.wustl.edu 37 5 67584576 67584576 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 67584576 67584576 C T SNP PIK3R1 ENST00000320694 human ensembl 74_37 +1 known nonsense c.13 p.Q5* 1.000 NULL pfam_SH2,superfamily_Guanylate-bd_C,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 tier1 - - 100 0 0.00 107 12 10.08 PITPNM1 0 genome.wustl.edu 37 11 67266123 67266123 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 67266123 67266123 C T SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known silent c.1428 p.A476 0.452 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 tier1 - - 133 0 0.00 119 24 16.78 PITPNM3 0 genome.wustl.edu 37 17 6367116 6367116 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 6367116 6367116 C T SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known missense c.2242 p.A748T 0.998 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 tier1 rs139258076 - 35 0 0.00 19 9 32.14 PJA1 0 genome.wustl.edu 37 X 68382054 68382056 + In_Frame_Del DEL CGT CGT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CGT CGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 68382054 68382056 CGT - DEL PJA1 ENST00000361478 human ensembl 74_37 -1 known in_frame_del c.1028_1026 p.R343in_frame_del 0.000:0.000:0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 tier1 41 0 0.00 45 7 13.46 PKD1 0 genome.wustl.edu 37 16 2143071 2143071 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 2143071 2143071 A - DEL PKD1 ENST00000262304 human ensembl 74_37 -1 known frame_shift_del c.11040 p.L3681fs 1.000 prints_PKD_1 pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 tier1 189 0 0.00 155 39 20.10 PKD1L1 0 genome.wustl.edu 37 7 47955186 47955186 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 47955186 47955186 A - DEL PKD1L1 ENST00000289672 human ensembl 74_37 -1 known frame_shift_del c.1071 p.H358fs 0.006 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 tier1 32 0 0.00 46 9 16.36 PKDREJ 0 genome.wustl.edu 37 22 46658460 46658460 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 46658460 46658460 C T SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.760 p.A254T 0.000 pfam_PKD/REJ-like,pfscan_REJ-like pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 tier1 - - 78 0 0.00 49 20 28.99 PKLR 0 genome.wustl.edu 37 1 155264509 155264509 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 155264509 155264509 G A SNP PKLR ENST00000342741 human ensembl 74_37 -1 known silent c.729 p.G243 0.601 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase-like_insert_dom,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 tier1 - - 44 0 0.00 33 12 26.67 PKN3 0 genome.wustl.edu 37 9 131476550 131476550 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 131476550 131476550 C - DEL PKN3 ENST00000291906 human ensembl 74_37 +1 known frame_shift_del c.1387 p.C465fs 1.000 NULL pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN3 HGNC ENSG00000160447 tier1 204 0 0.00 172 46 21.10 PKP4 0 genome.wustl.edu 37 2 159522968 159522969 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 159522968 159522969 - C INS PKP4 ENST00000389759 human ensembl 74_37 +1 known frame_shift_ins c.2621_2622 p.I876fs 1.000:0.992 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 tier1 130 0 0.00 129 24 15.69 PLCB4 0 genome.wustl.edu 37 20 9417772 9417772 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 9417772 9417772 C T SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known silent c.2701 p.L901 0.097 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 tier1 - - 25 0 0.00 37 16 30.19 PLCD4 0 genome.wustl.edu 37 2 219480727 219480728 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 219480727 219480728 - A INS PLCD4 ENST00000417849 human ensembl 74_37 +1 known frame_shift_ins c.123_124 p.N41fs 1.000:1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD4 HGNC ENSG00000115556 tier1 54 0 0.00 61 21 25.61 PLEKHA7 0 genome.wustl.edu 37 11 16812676 16812676 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 16812676 16812676 G A SNP PLEKHA7 ENST00000448080 human ensembl 74_37 -1 known missense c.2819 p.P940L 1.000 NULL pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA7 HGNC ENSG00000166689 tier1 - - 51 0 0.00 88 32 26.67 PLEKHA7 0 genome.wustl.edu 37 11 16822525 16822525 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 16822525 16822525 A - DEL PLEKHA7 ENST00000448080 human ensembl 74_37 -1 known frame_shift_del c.2405 p.F802fs 0.999 NULL pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA7 HGNC ENSG00000166689 tier1 156 0 0.00 196 41 17.30 PLEKHG1 0 genome.wustl.edu 37 6 151054882 151054882 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 151054882 151054882 G A SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known missense c.65 p.R22H 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 tier1 - - 120 0 0.00 105 21 16.54 PLEKHG5 0 genome.wustl.edu 37 1 6533171 6533171 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 6533171 6533171 T C SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known missense c.1096 p.R366G 0.984 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 tier1 - - 86 0 0.00 78 11 12.36 PLEKHH1 0 genome.wustl.edu 37 14 68047726 68047726 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 68047726 68047726 A G SNP PLEKHH1 ENST00000329153 human ensembl 74_37 +1 known silent c.3255 p.T1085 0.689 smart_Band_41_domain,pfscan_FERM_domain pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 tier1 - - 97 0 0.00 88 17 16.19 PLEKHS1 0 genome.wustl.edu 37 10 115540378 115540378 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 115540378 115540378 C T SNP PLEKHS1 ENST00000369312 human ensembl 74_37 +1 known silent c.939 p.I313 0.039 NULL NULL - no_errors PLEKHS1 HGNC ENSG00000148735 tier1 rs201435892 - 72 0 0.00 49 14 22.22 PLG 0 genome.wustl.edu 37 6 161137727 161137727 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 161137727 161137727 A G SNP PLG ENST00000308192 human ensembl 74_37 +1 known missense c.719 p.E240G 1.000 pirsf_Pept_S1A_plasmin,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 tier1 - - 41 0 0.00 43 19 30.65 PLIN5 0 genome.wustl.edu 37 19 4525740 4525740 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 4525740 4525740 G A SNP PLIN5 ENST00000381848 human ensembl 74_37 -1 known missense c.625 p.R209C 1.000 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN5 HGNC ENSG00000214456 tier1 rs201857623 - 108 0 0.00 80 33 29.20 PLK1 0 genome.wustl.edu 37 16 23700887 23700887 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 23700887 23700887 C T SNP PLK1 ENST00000300093 human ensembl 74_37 +1 known missense c.1498 p.R500C 0.989 NULL pfam_Prot_kinase_dom,pfam_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK1 HGNC ENSG00000166851 tier1 - - 60 0 0.00 67 15 18.29 PLK2 0 genome.wustl.edu 37 5 57753011 57753012 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 57753011 57753012 - A INS PLK2 ENST00000274289 human ensembl 74_37 -1 known frame_shift_ins c.1005_1004 p.L335fs 1.000:1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK2 HGNC ENSG00000145632 tier1 36 0 0.00 47 8 14.55 PLXDC1 0 genome.wustl.edu 37 17 37264468 37264468 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 37264468 37264468 C A SNP PLXDC1 ENST00000315392 human ensembl 74_37 -1 known missense c.500 p.R167L 1.000 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold - no_errors PLXDC1 HGNC ENSG00000161381 tier1 - - 183 0 0.00 133 44 24.86 PLXNA3 0 genome.wustl.edu 37 X 153699538 153699540 + In_Frame_Del DEL GGT GGT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 GGT GGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 153699538 153699540 GGT - DEL PLXNA3 ENST00000369682 human ensembl 74_37 +1 known in_frame_del c.5247_5249 p.V1751in_frame_del 0.005:1.000:1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 tier1 293 0 0.00 272 66 19.53 PLXNB1 0 genome.wustl.edu 37 3 48451443 48451443 + Silent SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 48451443 48451443 G T SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known silent c.5649 p.P1883 0.999 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 tier1 - - 68 0 0.00 78 10 11.36 PLXND1 0 genome.wustl.edu 37 3 129324762 129324762 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 129324762 129324762 G A SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.721 p.R241C 1.000 superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 tier1 - - 69 0 0.00 51 8 13.56 PMPCA 0 genome.wustl.edu 37 9 139317614 139317614 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 139317614 139317614 C T SNP PMPCA ENST00000371717 human ensembl 74_37 +1 known silent c.1476 p.A492 0.364 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors PMPCA HGNC ENSG00000165688 tier1 - - 43 0 0.00 50 14 21.88 PMS1 0 genome.wustl.edu 37 2 190670540 190670541 + Frame_Shift_Del DEL AA AA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 190670540 190670541 AA - DEL PMS1 ENST00000409985 human ensembl 74_37 +1 novel frame_shift_del c.478_479 p.K163fs 0.001:0.000 NULL pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd - no_errors PMS1 HGNC ENSG00000064933 tier1 10 0 0.00 10 2 16.67 PNMA2 0 genome.wustl.edu 37 8 26366201 26366201 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 26366201 26366201 G A SNP PNMA2 ENST00000522362 human ensembl 74_37 -1 known missense c.71 p.T24M 0.060 NULL pfam_Retrotrans_gag_dom - no_errors PNMA2 HGNC ENSG00000240694 tier1 - - 172 0 0.00 267 51 16.04 PNPLA7 0 genome.wustl.edu 37 9 140358686 140358686 + RNA SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 140358686 140358686 A G SNP PNPLA7 ENST00000469998 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PNPLA7 HGNC ENSG00000130653 tier1 - - 73 0 0.00 66 14 17.50 POGZ 0 genome.wustl.edu 37 1 151381286 151381286 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 151381286 151381286 A G SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.1945 p.C649R 1.000 smart_Znf_C2H2-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 tier1 - - 267 0 0.00 269 72 21.05 POLA1 0 genome.wustl.edu 37 X 24751974 24751974 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 24751974 24751974 G A SNP POLA1 ENST00000493342 human ensembl 74_37 +1 known rna NULL NULL 0.055 - - - no_errors POLA1 HGNC ENSG00000101868 tier1 - - 23 0 0.00 26 8 23.53 POLM 0 genome.wustl.edu 37 7 44114091 44114091 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 44114091 44114091 G A SNP POLM ENST00000242248 human ensembl 74_37 -1 known missense c.874 p.R292W 0.004 smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors POLM HGNC ENSG00000122678 tier1 - - 23 0 0.00 11 4 26.67 POLR1A 0 genome.wustl.edu 37 2 86308084 86308084 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 86308084 86308084 C T SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known missense c.941 p.R314H 1.000 pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 tier1 - - 96 0 0.00 101 23 18.55 POLR2K 0 genome.wustl.edu 37 8 101164033 101164033 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 101164033 101164033 T - DEL POLR2K ENST00000519765 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors POLR2K HGNC ENSG00000147669 tier1 22 0 0.00 29 12 29.27 POLR3A 0 genome.wustl.edu 37 10 79759817 79759817 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 79759817 79759817 C T SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known silent c.2538 p.E846 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 tier1 - - 86 0 0.00 81 9 10.00 POU3F3 0 genome.wustl.edu 37 2 105472298 105472298 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 105472298 105472298 T C SNP POU3F3 ENST00000361360 human ensembl 74_37 +1 known silent c.330 p.A110 0.944 pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F3 HGNC ENSG00000198914 tier1 - - 10 0 0.00 3 6 66.67 POU3F3 0 genome.wustl.edu 37 2 105472922 105472922 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 105472922 105472922 G A SNP POU3F3 ENST00000361360 human ensembl 74_37 +1 known silent c.954 p.T318 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,pfscan_POU_specific pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F3 HGNC ENSG00000198914 tier1 - - 62 0 0.00 31 20 39.22 POU3F3 0 genome.wustl.edu 37 2 105473431 105473431 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 105473431 105473431 C T SNP POU3F3 ENST00000361360 human ensembl 74_37 +1 known missense c.1463 p.T488M 1.000 pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F3 HGNC ENSG00000198914 tier1 - - 36 0 0.00 26 6 18.75 POU4F1 0 genome.wustl.edu 37 13 79177342 79177342 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 79177342 79177342 C T SNP POU4F1 ENST00000377208 human ensembl 74_37 -1 known silent c.120 p.P40 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F1 HGNC ENSG00000152192 tier1 - - 22 0 0.00 19 10 34.48 POU4F3 0 genome.wustl.edu 37 5 145719620 145719620 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 145719620 145719620 G A SNP POU4F3 ENST00000230732 human ensembl 74_37 +1 known silent c.630 p.A210 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F3 HGNC ENSG00000091010 tier1 - - 90 0 0.00 94 30 24.19 PPAP2B 0 genome.wustl.edu 37 1 57002669 57002669 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 57002669 57002669 G A SNP PPAP2B ENST00000371250 human ensembl 74_37 -1 known silent c.255 p.D85 0.831 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2B HGNC ENSG00000162407 tier1 rs138524119 - 113 0 0.00 142 39 21.55 PPAPDC1B 0 genome.wustl.edu 37 8 38124842 38124842 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 38124842 38124842 C A SNP PPAPDC1B ENST00000424479 human ensembl 74_37 -1 known missense c.406 p.G136W 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC1B HGNC ENSG00000147535 tier1 - - 98 0 0.00 148 30 16.85 PPFIA4 0 genome.wustl.edu 37 1 203044708 203044708 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 203044708 203044708 G A SNP PPFIA4 ENST00000414050 human ensembl 74_37 +1 known missense c.2518 p.D840N 0.978 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA4 HGNC ENSG00000143847 tier1 - - 46 0 0.00 35 7 16.67 PPIG 0 genome.wustl.edu 37 2 170462563 170462563 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 170462563 170462563 G A SNP PPIG ENST00000260970 human ensembl 74_37 +1 known missense c.151 p.G51R 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 tier1 - - 76 0 0.00 71 11 13.41 PPM1M 0 genome.wustl.edu 37 3 52283736 52283737 + Frame_Shift_Del DEL AC AC - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 52283736 52283737 AC - DEL PPM1M ENST00000457351 human ensembl 74_37 +1 known frame_shift_del c.1286_1287 p.D429fs 0.000:0.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1M HGNC ENSG00000164088 tier1 45 0 0.00 33 6 15.38 PPP1R14B 0 genome.wustl.edu 37 11 64013998 64013998 + Missense_Mutation SNP C C G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 64013998 64013998 C G SNP PPP1R14B ENST00000309318 human ensembl 74_37 -1 known missense c.148 p.V50L 1.000 pfam_PP1_inhibitor,superfamily_PP1_inhibitor pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14B HGNC ENSG00000173457 tier1 - - 38 0 0.00 23 4 14.81 PPP1R15A 0 genome.wustl.edu 37 19 49377242 49377242 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 49377242 49377242 G - DEL PPP1R15A ENST00000200453 human ensembl 74_37 +1 known frame_shift_del c.752 p.R251fs 0.001 NULL pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15A HGNC ENSG00000087074 tier1 82 0 0.00 64 21 24.71 PPP1R16A 0 genome.wustl.edu 37 8 145724440 145724440 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 145724440 145724440 G A SNP PPP1R16A ENST00000292539 human ensembl 74_37 +1 known missense c.472 p.A158T 0.679 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R16A HGNC ENSG00000160972 tier1 - - 53 0 0.00 75 13 14.77 PRDM8 0 genome.wustl.edu 37 4 81123234 81123234 + Silent SNP C C G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 81123234 81123234 C G SNP PRDM8 ENST00000339711 human ensembl 74_37 +1 known silent c.618 p.G206 0.875 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM8 HGNC ENSG00000152784 tier1 - - 74 0 0.00 87 21 19.44 PRICKLE2 0 genome.wustl.edu 37 3 64139008 64139008 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 64139008 64139008 G A SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known nonsense c.637 p.R213* 0.781 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 tier1 - - 100 0 0.00 131 24 15.48 PRKAA2 0 genome.wustl.edu 37 1 57169748 57169748 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 57169748 57169748 A - DEL PRKAA2 ENST00000371244 human ensembl 74_37 +1 known frame_shift_del c.893 p.K299fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA2 HGNC ENSG00000162409 tier1 169 0 0.00 179 38 17.51 PRKAR1A 0 genome.wustl.edu 37 17 66511561 66511561 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 66511561 66511561 C T SNP PRKAR1A ENST00000358598 human ensembl 74_37 +1 known silent c.21 p.A7 0.983 pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1A HGNC ENSG00000108946 tier1 - - 39 0 0.00 46 8 14.81 PRKAR1B 0 genome.wustl.edu 37 7 751064 751065 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 751064 751065 - C INS PRKAR1B ENST00000360274 human ensembl 74_37 -1 known frame_shift_ins c.79_78 p.I26fs 1.000:1.000 pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1B HGNC ENSG00000188191 tier1 118 0 0.00 105 32 23.36 PRKCH 0 genome.wustl.edu 37 14 61858002 61858002 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 61858002 61858002 T C SNP PRKCH ENST00000332981 human ensembl 74_37 +1 known silent c.423 p.T141 1.000 superfamily_C2_dom,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCH HGNC ENSG00000027075 tier1 - - 79 0 0.00 76 15 16.48 PRKCSH 0 genome.wustl.edu 37 19 11558373 11558373 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 11558373 11558373 A G SNP PRKCSH ENST00000252455 human ensembl 74_37 +1 known silent c.969 p.E323 0.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom - no_errors PRKCSH HGNC ENSG00000130175 15 0 0.00 19 3 13.64 PRKDC 0 genome.wustl.edu 37 8 48701555 48701555 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 48701555 48701555 T - DEL PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_del c.10811 p.N3604fs 0.000 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 PRKDC HGNC ENSG00000253729 tier1 56 0 0.00 94 18 16.07 PRKDC 0 genome.wustl.edu 37 8 48746805 48746805 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 48746805 48746805 T C SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.8101 p.K2701E 0.000 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 PRKDC HGNC ENSG00000253729 tier1 rs8178178 - 409 0 0.00 651 99 13.20 PRKDC 0 genome.wustl.edu 37 8 48749058 48749058 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 48749058 48749058 G A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known nonsense c.7789 p.R2597* 0.996 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 PRKDC HGNC ENSG00000253729 tier1 - - 11 0 0.00 10 4 28.57 PROK2 0 genome.wustl.edu 37 3 71821968 71821968 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 71821968 71821968 A - DEL PROK2 ENST00000295619 human ensembl 74_37 -1 known frame_shift_del c.297 p.F99fs 0.619 pfam_Prokineticin_domain pfam_Prokineticin_domain - no_errors PROK2 HGNC ENSG00000163421 tier1 49 0 0.00 53 15 22.06 PROKR2 0 genome.wustl.edu 37 20 5294844 5294844 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 5294844 5294844 T C SNP PROKR2 ENST00000217270 human ensembl 74_37 -1 known missense c.172 p.I58V 0.788 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 tier1 - - 98 0 0.00 124 66 34.74 PROSC 0 genome.wustl.edu 37 8 37623132 37623132 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 37623132 37623132 G A SNP PROSC ENST00000328195 human ensembl 74_37 +1 known missense c.188 p.R63H 1.000 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 - no_errors PROSC HGNC ENSG00000147471 tier1 - - 278 0 0.00 522 69 11.66 PROX1 0 genome.wustl.edu 37 1 214170585 214170585 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 214170585 214170585 G A SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.707 p.R236H 1.000 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 tier1 - - 51 0 0.00 64 7 9.86 PRPF3 0 genome.wustl.edu 37 1 150300846 150300846 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 150300846 150300846 G A SNP PRPF3 ENST00000324862 human ensembl 74_37 +1 known missense c.344 p.R115H 1.000 NULL pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors PRPF3 HGNC ENSG00000117360 tier1 - - 211 0 0.00 199 48 19.35 PRPF6 0 genome.wustl.edu 37 20 62664241 62664241 + Silent SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 62664241 62664241 G T SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known silent c.2721 p.R907 0.986 NULL pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 tier1 - - 49 0 0.00 40 11 21.57 PRR14 0 genome.wustl.edu 37 16 30664276 30664276 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 30664276 30664276 G A SNP PRR14 ENST00000300835 human ensembl 74_37 +1 known missense c.356 p.R119H 0.422 NULL NULL - no_errors PRR14 HGNC ENSG00000156858 tier1 - - 80 0 0.00 69 20 22.47 PRR23B 0 genome.wustl.edu 37 3 138738760 138738760 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 138738760 138738760 C T SNP PRR23B ENST00000329447 human ensembl 74_37 -1 known silent c.744 p.S248 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC ENSG00000184814 tier1 - - 57 0 0.00 84 20 19.23 PRRC2A 0 genome.wustl.edu 37 6 31600240 31600240 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 31600240 31600240 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.3790 p.R1264W 0.304 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 tier1 - - 136 0 0.00 118 20 14.49 PRRC2B 0 genome.wustl.edu 37 9 134366909 134366909 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 134366909 134366909 C - DEL PRRC2B ENST00000357304 human ensembl 74_37 +1 known frame_shift_del c.6323 p.R2110fs 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 tier1 58 0 0.00 54 14 20.59 PRTG 0 genome.wustl.edu 37 15 55912281 55912281 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 55912281 55912281 G A SNP PRTG ENST00000389286 human ensembl 74_37 -1 known missense c.3382 p.R1128W 0.999 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 tier1 - - 79 0 0.00 73 23 23.96 PRTG 0 genome.wustl.edu 37 15 55912892 55912892 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 55912892 55912892 A - DEL PRTG ENST00000389286 human ensembl 74_37 -1 known frame_shift_del c.3167 p.F1056fs 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 tier1 41 0 0.00 34 6 15.00 PSG3 0 genome.wustl.edu 37 19 43236967 43236967 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 43236967 43236967 G A SNP PSG3 ENST00000327495 human ensembl 74_37 -1 known silent c.678 p.S226 0.001 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 tier1 - - 449 0 0.00 560 60 9.66 PSMA4 0 genome.wustl.edu 37 15 78841212 78841212 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 78841212 78841212 A - DEL PSMA4 ENST00000044462 human ensembl 74_37 +1 known frame_shift_del c.712 p.K239fs 1.000 NULL pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA4 HGNC ENSG00000041357 tier1 60 0 0.00 56 14 20.00 PSMA6 0 genome.wustl.edu 37 14 35779976 35779976 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 35779976 35779976 G A SNP PSMA6 ENST00000261479 human ensembl 74_37 +1 known missense c.284 p.R95H 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA6 HGNC ENSG00000100902 tier1 - - 42 0 0.00 57 15 20.83 PSMA8 0 genome.wustl.edu 37 18 23713975 23713975 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 23713975 23713975 G A SNP PSMA8 ENST00000308268 human ensembl 74_37 +1 known missense c.46 p.G16R 1.000 pfam_Proteasome_asu_N,smart_Proteasome_asu_N pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA8 HGNC ENSG00000154611 tier1 - - 117 0 0.00 134 38 22.09 PSMC6 0 genome.wustl.edu 37 14 53178229 53178229 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 53178229 53178229 G A SNP PSMC6 ENST00000445930 human ensembl 74_37 +1 known missense c.470 p.R157Q 1.000 superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC6 HGNC ENSG00000100519 tier1 - - 93 0 0.00 93 26 21.85 PTBP1 0 genome.wustl.edu 37 19 804376 804376 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 804376 804376 C T SNP PTBP1 ENST00000356948 human ensembl 74_37 +1 known missense c.373 p.P125S 1.000 smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 tier1 - - 70 0 0.00 73 11 13.10 PTCHD2 0 genome.wustl.edu 37 1 11595683 11595684 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 11595683 11595684 0 C INS PTCHD2 ENST00000294484 human ensembl 74_37 +1 known frame_shift_ins c.3798_3799 p.H1268fs 0.997:1.000 pfam_Patched,pfam_MMPL_dom pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 97 0 0.00 104 11 9.57 PTCHD4 0 genome.wustl.edu 37 6 48036112 48036112 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 48036112 48036112 G - DEL PTCHD4 ENST00000339488 human ensembl 74_37 -1 known frame_shift_del c.280 p.L94fs 1.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 tier1 112 0 0.00 113 19 14.39 PTP4A2 0 genome.wustl.edu 37 1 32384717 32384717 + RNA DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 32384717 32384717 A - DEL PTP4A2 ENST00000532289 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTP4A2 HGNC ENSG00000184007 tier1 12 0 0.00 13 6 31.58 PTPN21 0 genome.wustl.edu 37 14 88940113 88940113 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 88940113 88940113 T - DEL PTPN21 ENST00000328736 human ensembl 74_37 -1 known frame_shift_del c.2545 p.I849fs 0.995 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 tier1 85 0 0.00 87 23 20.91 PTPN23 0 genome.wustl.edu 37 3 47454478 47454478 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 47454478 47454478 C - DEL PTPN23 ENST00000265562 human ensembl 74_37 +1 known frame_shift_del c.4714 p.S1574fs 0.990 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 tier1 34 0 0.00 35 5 12.50 PTPN3 0 genome.wustl.edu 37 9 112145798 112145799 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 112145798 112145799 - G INS PTPN3 ENST00000374541 human ensembl 74_37 -1 known frame_shift_ins c.2287_2286 p.D762fs 0.425:0.022 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 tier1 102 0 0.00 116 24 17.14 PTPRB 0 genome.wustl.edu 37 12 70948992 70948992 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 70948992 70948992 G A SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known silent c.5091 p.S1697 0.985 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 tier1 rs112766507 - 54 0 0.00 58 21 26.58 PTPRCAP 0 genome.wustl.edu 37 11 67203637 67203637 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 67203637 67203637 C - DEL PTPRCAP ENST00000326294 human ensembl 74_37 -1 known frame_shift_del c.188 p.G63fs 1.000 pirsf_Tyr_Pase_rcpt_C-assoc_CD45-AP pirsf_Tyr_Pase_rcpt_C-assoc_CD45-AP - no_errors PTPRCAP HGNC ENSG00000213402 tier1 10 0 0.00 12 4 25.00 PTPRK 0 genome.wustl.edu 37 6 128298086 128298086 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 128298086 128298086 G A SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known silent c.3876 p.N1292 1.000 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,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,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,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 tier1 - - 78 0 0.00 74 21 22.11 PTPRS 0 genome.wustl.edu 37 19 5246039 5246039 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 5246039 5246039 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.739 p.R247C 0.997 pfam_Ig_I-set,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,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 tier1 - - 11 0 0.00 7 5 41.67 PTPRT 0 genome.wustl.edu 37 20 40790157 40790157 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 40790157 40790157 G A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known silent c.2574 p.S858 0.992 NULL 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,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 88 0 0.00 120 15 11.11 PVRIG 0 genome.wustl.edu 37 7 99818819 99818819 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 99818819 99818819 T G SNP PVRIG ENST00000317271 human ensembl 74_37 +1 known missense c.926 p.L309R 0.000 NULL NULL - no_errors PVRIG HGNC ENSG00000213413 tier1 - - 15 0 0.00 28 13 31.71 PWP2 0 genome.wustl.edu 37 21 45544600 45544600 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 45544600 45544600 G A SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known missense c.1957 p.A653T 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 tier1 - - 71 0 0.00 77 6 7.23 PXDNL 0 genome.wustl.edu 37 8 52232488 52232489 + Frame_Shift_Del DEL TC TC - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 52232488 52232489 TC - DEL PXDNL ENST00000356297 human ensembl 74_37 -1 known frame_shift_del c.4355_4354 p.D1452fs 0.026:0.109 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 37 0 0.00 61 11 15.28 QKI 0 genome.wustl.edu 37 6 163899920 163899920 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 163899920 163899920 A - DEL QKI ENST00000361752 human ensembl 74_37 +1 known frame_shift_del c.394 p.K134fs 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 tier1 57 0 0.00 77 11 12.50 RAB22A 0 genome.wustl.edu 37 20 56929278 56929278 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 56929278 56929278 C T SNP RAB22A ENST00000244040 human ensembl 74_37 +1 known silent c.444 p.S148 1.000 pfam_Small_GTPase,pfam_EF_GTP-bd_dom,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,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,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 RAB22A HGNC ENSG00000124209 tier1 rs138266092 - 45 0 0.00 45 7 13.46 RAB42 0 genome.wustl.edu 37 1 28920569 28920569 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 28920569 28920569 C A SNP RAB42 ENST00000373826 human ensembl 74_37 +1 known missense c.258 p.H86Q 0.990 superfamily_P-loop_NTPase pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RAB42 HGNC ENSG00000188060 tier1 - - 43 0 0.00 47 11 18.97 RABGAP1 0 genome.wustl.edu 37 9 125827753 125827755 + In_Frame_Del DEL AAA AAA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 125827753 125827755 AAA - DEL RABGAP1 ENST00000456584 human ensembl 74_37 +1 known in_frame_del c.1717_1719 p.K576in_frame_del 0.000:0.000:0.013 pfscan_Rab-GTPase-TBC_dom pfam_Kinesin-like,pfam_Rab-GTPase-TBC_dom,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 tier1 51 0 0.00 39 12 23.53 RABL2A 0 genome.wustl.edu 37 2 114398860 114398860 + RNA SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 114398860 114398860 C A SNP RABL2A ENST00000477218 human ensembl 74_37 +1 known rna NULL NULL 0.025 - - - no_errors RABL2A HGNC ENSG00000144134 tier1 - - 54 0 0.00 47 17 26.56 RAD50 0 genome.wustl.edu 37 5 131931452 131931452 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 131931452 131931452 A - DEL RAD50 ENST00000265335 human ensembl 74_37 +1 known frame_shift_del c.2157 p.K722fs 0.997 superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes - no_errors RAD50 HGNC ENSG00000113522 tier1 93 0 0.00 111 21 15.91 RAD51D 0 genome.wustl.edu 37 17 33428224 33428224 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 33428224 33428224 C T SNP RAD51D ENST00000590016 human ensembl 74_37 -1 known missense c.959 p.R320Q 0.997 superfamily_P-loop_NTPase pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51D HGNC ENSG00000185379 tier1 - - 158 0 0.00 105 41 28.08 RANBP3 0 genome.wustl.edu 37 19 5978130 5978130 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 5978130 5978130 G A SNP RANBP3 ENST00000588879 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors RANBP3 HGNC ENSG00000031823 tier1 - - 45 0 0.00 62 6 8.82 RAPH1 0 genome.wustl.edu 37 2 204324708 204324710 + In_Frame_Del DEL AAG AAG - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 204324708 204324710 AAG - DEL RAPH1 ENST00000374493 human ensembl 74_37 -1 known in_frame_del c.1170_1168 p.L390in_frame_del 0.701:1.000:1.000 pfam_Ras-assoc,superfamily_Kinase-like_dom,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 tier1 54 0 0.00 66 9 12.00 RASA3 0 genome.wustl.edu 37 13 114762033 114762033 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 114762033 114762033 C T SNP RASA3 ENST00000334062 human ensembl 74_37 -1 known silent c.2115 p.S705 0.000 pfam_Znf_Btk_motif,smart_Znf_Btk_motif,pfscan_Znf_Btk_motif,prints_Znf_Btk_motif pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 tier1 - - 69 0 0.00 62 20 24.39 RASAL1 0 genome.wustl.edu 37 12 113553778 113553779 + Frame_Shift_Del DEL GA GA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 113553778 113553779 GA - DEL RASAL1 ENST00000546530 human ensembl 74_37 -1 known frame_shift_del c.810_809 p.L270fs 0.016:0.996 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 tier1 162 0 0.00 149 34 18.58 RASGEF1C 0 genome.wustl.edu 37 5 179545670 179545670 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 179545670 179545670 T C SNP RASGEF1C ENST00000361132 human ensembl 74_37 -1 known missense c.1022 p.Y341C 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 tier1 - - 160 0 0.00 122 41 25.15 RAX 0 genome.wustl.edu 37 18 56939676 56939676 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 56939676 56939676 C T SNP RAX ENST00000334889 human ensembl 74_37 -1 known missense c.460 p.A154T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors RAX HGNC ENSG00000134438 tier1 - - 114 0 0.00 105 27 20.45 RBBP8NL 0 genome.wustl.edu 37 20 60991218 60991218 + Splice_Site SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 60991218 60991218 A G SNP RBBP8NL ENST00000252998 human ensembl 74_37 -1 known splice_site c.386+2 e5+2 1.000 - - - no_errors RBBP8NL HGNC ENSG00000130701 tier1 - - 21 0 0.00 16 6 27.27 RBFOX1 0 genome.wustl.edu 37 16 7703894 7703894 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 7703894 7703894 G A SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known missense c.964 p.V322M 1.000 pfam_Fox-1_C_dom,pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 tier1 - - 54 0 0.00 40 17 29.82 RBM45 0 genome.wustl.edu 37 2 178988920 178988920 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 178988920 178988920 A - DEL RBM45 ENST00000286070 human ensembl 74_37 +1 known frame_shift_del c.1135 p.A382fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM45 HGNC ENSG00000155636 tier1 70 0 0.00 98 20 16.95 RBM47 0 genome.wustl.edu 37 4 40439824 40439824 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 40439824 40439824 C T SNP RBM47 ENST00000295971 human ensembl 74_37 -1 known missense c.1087 p.A363T 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 tier1 - - 66 0 0.00 46 15 24.59 RBMX 0 genome.wustl.edu 37 X 135961586 135961589 + Frame_Shift_Del DEL TGTT TGTT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TGTT TGTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 135961586 135961589 TGTT - DEL RBMX ENST00000320676 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 tier1 119 0 0.00 109 12 9.92 RBMXL1 0 genome.wustl.edu 37 1 89448607 89448607 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 89448607 89448607 C T SNP RBMXL1 ENST00000321792 human ensembl 74_37 -1 known silent c.903 p.P301 0.997 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC ENSG00000213516 tier1 rs142293239 - 240 0 0.00 255 72 22.02 RBP3 0 genome.wustl.edu 37 10 48388824 48388824 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 48388824 48388824 T C SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known missense c.2054 p.Q685R 1.000 NULL pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 tier1 - - 82 0 0.00 66 21 24.14 RBPJL 0 genome.wustl.edu 37 20 43944933 43944933 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 43944933 43944933 C T SNP RBPJL ENST00000343694 human ensembl 74_37 +1 known missense c.1127 p.A376V 0.890 superfamily_Ig_E-set pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC ENSG00000124232 tier1 - - 58 0 0.00 45 14 23.73 RDH13 0 genome.wustl.edu 37 19 55560098 55560098 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 55560098 55560098 G A SNP RDH13 ENST00000415061 human ensembl 74_37 -1 known missense c.374 p.A125V 0.999 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH13 HGNC ENSG00000160439 tier1 - - 57 0 0.00 50 18 26.47 RECK 0 genome.wustl.edu 37 9 36112460 36112461 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 36112460 36112461 - A INS RECK ENST00000377966 human ensembl 74_37 +1 known frame_shift_ins c.2047_2048 p.N685fs 0.988:0.002 NULL pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom - no_errors RECK HGNC ENSG00000122707 tier1 47 0 0.00 58 10 14.71 REG1B 0 genome.wustl.edu 37 2 79314001 79314001 + Silent SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 79314001 79314001 G T SNP REG1B ENST00000305089 human ensembl 74_37 -1 known silent c.120 p.T40 0.000 superfamily_C-type_lectin_fold,smart_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG1B HGNC ENSG00000172023 tier1 - - 179 0 0.00 193 43 18.22 RELN 0 genome.wustl.edu 37 7 103393639 103393639 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 103393639 103393639 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known silent c.567 p.H189 0.942 pfscan_Reeler_dom pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 101 0 0.00 102 25 19.69 REM1 0 genome.wustl.edu 37 20 30072050 30072050 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 30072050 30072050 C T SNP REM1 ENST00000201979 human ensembl 74_37 +1 known silent c.714 p.G238 1.000 pirsf_Small_GTPase_GEM/REM/Rad,pfam_Small_GTPase,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pirsf_Small_GTPase_GEM/REM/Rad,pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors REM1 HGNC ENSG00000088320 17 0 0.00 18 4 18.18 RETN 0 genome.wustl.edu 37 19 7734776 7734776 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 7734776 7734776 G A SNP RETN ENST00000221515 human ensembl 74_37 +1 known missense c.188 p.C63Y 1.000 pfam_Resistin,superfamily_Resistin pfam_Resistin,superfamily_Resistin - no_errors RETN HGNC ENSG00000104918 tier1 - - 30 0 0.00 38 11 22.45 REV1 0 genome.wustl.edu 37 2 100027276 100027278 + In_Frame_Del DEL TCT TCT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 100027276 100027278 TCT - DEL REV1 ENST00000258428 human ensembl 74_37 -1 known in_frame_del c.2226_2224 p.R742in_frame_del 0.997:1.000:0.994 pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pirsf_REV1 pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 tier1 78 0 0.00 93 23 19.83 RFC3 0 genome.wustl.edu 37 13 34398063 34398063 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 34398063 34398063 A - DEL RFC3 ENST00000380071 human ensembl 74_37 +1 known frame_shift_del c.235 p.I82fs 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC3 HGNC ENSG00000133119 tier1 9 0 0.00 17 4 19.05 RFWD3 0 genome.wustl.edu 37 16 74657848 74657848 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 74657848 74657848 A G SNP RFWD3 ENST00000361070 human ensembl 74_37 -1 known missense c.2303 p.V768A 1.000 smart_WD40_repeat pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING - no_errors RFWD3 HGNC ENSG00000168411 tier1 - - 71 0 0.00 93 7 7.00 RFX6 0 genome.wustl.edu 37 6 117237372 117237372 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 117237372 117237372 T - DEL RFX6 ENST00000332958 human ensembl 74_37 +1 known frame_shift_del c.867 p.L291fs 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 tier1 106 0 0.00 110 33 23.08 RGS12 0 genome.wustl.edu 37 4 3319206 3319206 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 3319206 3319206 C T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.1309 p.R437W 0.985 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 tier1 rs148172496 - 109 0 0.00 90 16 14.95 RGS12 0 genome.wustl.edu 37 4 3430399 3430399 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 3430399 3430399 A - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.3526 p.K1178fs 1.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 tier1 73 0 0.00 73 17 18.89 RGS22 0 genome.wustl.edu 37 8 101075899 101075899 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 101075899 101075899 A 0 DEL RGS22 ENST00000360863 human ensembl 74_37 -1 known frame_shift_del c.1097 p.L366fs 0.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 51 0 0.00 92 8 8.00 RGS22 0 genome.wustl.edu 37 8 101083674 101083675 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 101083674 101083675 0 T INS RGS22 ENST00000360863 human ensembl 74_37 -1 known frame_shift_ins c.517_516 p.P172fs 0.001:0.040 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 67 0 0.00 153 11 6.71 RHBDL2 0 genome.wustl.edu 37 1 39384905 39384905 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 39384905 39384905 C - DEL RHBDL2 ENST00000372985 human ensembl 74_37 -1 known frame_shift_del c.220 p.E74fs 0.963 pirsf_Peptidase_S54_rhomboid_met pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met - no_errors RHBDL2 HGNC ENSG00000158315 tier1 155 0 0.00 126 41 24.55 RHCE 0 genome.wustl.edu 37 1 25747185 25747185 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 25747185 25747185 A 0 DEL RHCE ENST00000294413 human ensembl 74_37 -1 known frame_shift_del c.93 p.F31fs 0.350 pfam_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHCE HGNC ENSG00000188672 85 0 0.00 111 32 22.38 RHOBTB3 0 genome.wustl.edu 37 5 95116041 95116042 + Frame_Shift_Del DEL AA AA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 95116041 95116042 AA - DEL RHOBTB3 ENST00000379982 human ensembl 74_37 +1 known frame_shift_del c.1368_1369 p.K457fs 0.770:0.998 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,superfamily_P-loop_NTPase,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors RHOBTB3 HGNC ENSG00000164292 tier1 42 0 0.00 47 14 22.95 RICTOR 0 genome.wustl.edu 37 5 38954826 38954826 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 38954826 38954826 T - DEL RICTOR ENST00000503698 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RICTOR HGNC ENSG00000164327 tier1 15 0 0.00 15 8 34.78 RICTOR 0 genome.wustl.edu 37 5 38959950 38959950 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 38959950 38959950 A - DEL RICTOR ENST00000296782 human ensembl 74_37 -1 known frame_shift_del c.1982 p.L661fs 1.000 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 tier1 99 0 0.00 84 28 25.00 RICTOR 0 genome.wustl.edu 37 5 38981989 38981989 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 38981989 38981989 G A SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known nonsense c.733 p.R245* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 tier1 - - 117 0 0.00 118 22 15.60 RICTOR 0 genome.wustl.edu 37 5 38945793 38945793 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 38945793 38945793 T 0 DEL RICTOR ENST00000296782 human ensembl 74_37 -1 known frame_shift_del c.4505 p.N1502fs 1.000 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 40 0 0.00 59 7 10.61 RIMBP2 0 genome.wustl.edu 37 12 130922927 130922927 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 130922927 130922927 A G SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.1588 p.Y530H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 tier1 - - 47 0 0.00 49 10 16.95 RIPK2 0 genome.wustl.edu 37 8 90782083 90782083 + Silent SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 90782083 90782083 A C SNP RIPK2 ENST00000220751 human ensembl 74_37 +1 known silent c.567 p.T189 0.884 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 - - 150 0 0.00 294 52 15.03 RIPK4 0 genome.wustl.edu 37 21 43161737 43161737 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 43161737 43161737 G A SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known missense c.1760 p.T587M 0.993 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 tier1 - - 55 0 0.00 65 9 12.16 RIPK4 0 genome.wustl.edu 37 21 43187099 43187099 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 43187099 43187099 G A SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known nonsense c.103 p.Q35* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 tier1 - - 52 0 0.00 47 8 14.55 RNF113B 0 genome.wustl.edu 37 13 98828609 98828609 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 98828609 98828609 G A SNP RNF113B ENST00000267291 human ensembl 74_37 -1 known silent c.882 p.D294 1.000 pfscan_Znf_RING pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113B HGNC ENSG00000139797 tier1 - - 167 0 0.00 165 44 21.05 RNF113B 0 genome.wustl.edu 37 13 98828654 98828654 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 98828654 98828654 G A SNP RNF113B ENST00000267291 human ensembl 74_37 -1 known silent c.837 p.C279 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113B HGNC ENSG00000139797 tier1 - - 179 0 0.00 175 52 22.91 RNF123 0 genome.wustl.edu 37 3 49736529 49736529 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 49736529 49736529 G A SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known missense c.755 p.R252H 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 tier1 - - 127 0 0.00 109 38 25.85 RNF168 0 genome.wustl.edu 37 3 196215512 196215512 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 196215512 196215512 T C SNP RNF168 ENST00000318037 human ensembl 74_37 -1 known missense c.344 p.E115G 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC ENSG00000163961 tier1 - - 42 0 0.00 54 22 28.95 RNF213 0 genome.wustl.edu 37 17 78320503 78320503 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 78320503 78320503 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.8368 p.A2790T 0.992 superfamily_P-loop_NTPase,smart_AAA+_ATPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 42 0 0.00 36 11 23.40 RNF43 0 genome.wustl.edu 37 17 56437530 56437531 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 56437530 56437531 - G INS RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_ins c.932_931 p.L311fs 1.000:1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 tier1 138 0 0.00 138 27 16.36 RNF43 0 genome.wustl.edu 37 17 56435974 56435974 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 56435974 56435974 T C SNP RNF43 ENST00000407977 human ensembl 74_37 -1 known missense c.1163 p.H388R 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 12 0 0.00 7 3 30.00 RNLS 0 genome.wustl.edu 37 10 90122339 90122339 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 90122339 90122339 C T SNP RNLS ENST00000331772 human ensembl 74_37 -1 known missense c.670 p.V224I 0.966 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors RNLS HGNC ENSG00000184719 tier1 - - 94 0 0.00 89 14 13.33 RP1 0 genome.wustl.edu 37 8 55534032 55534032 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 55534032 55534032 C T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.506 p.A169V 0.000 smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 152 0 0.00 292 39 11.78 RP1 0 genome.wustl.edu 37 8 55541377 55541377 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 55541377 55541377 T 0 DEL RP1 ENST00000220676 human ensembl 74_37 +1 known frame_shift_del c.4935 p.P1648fs 0.014 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 108 0 0.00 232 14 5.69 RP1L1 0 genome.wustl.edu 37 8 10480308 10480308 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 10480308 10480308 T C SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.404 p.Q135R 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 50 0 0.00 63 18 22.22 RP2 0 genome.wustl.edu 37 X 46739137 46739137 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 46739137 46739137 G A SNP RP2 ENST00000218340 human ensembl 74_37 +1 known missense c.986 p.S329N 0.521 superfamily_Nucleoside_diP_kinase,pirsf_Protein_XRP2 pfam_Tubulin-bd_cofactor_C_dom,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2 - no_errors RP2 HGNC ENSG00000102218 tier1 - - 62 0 0.00 71 22 23.66 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 tier1 42 0 0.00 30 13 30.23 RPL36A 0 genome.wustl.edu 37 X 100645994 100645994 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 100645994 100645994 G A SNP RPL36A ENST00000427805 human ensembl 74_37 +1 known missense c.71 p.R24Q 0.000 NULL pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd - no_errors RPL36A HGNC ENSG00000241343 tier1 - - 89 0 0.00 91 26 22.22 RPLP0P2 0 genome.wustl.edu 37 11 61404412 61404412 + RNA SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 61404412 61404412 C A SNP RPLP0P2 ENST00000496593 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPLP0P2 HGNC ENSG00000243742 tier1 - - 48 0 0.00 42 13 23.64 RPLP0P2 0 genome.wustl.edu 37 11 61405179 61405180 + RNA DEL AA AA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 61405179 61405180 AA - DEL RPLP0P2 ENST00000496593 human ensembl 74_37 +1 known rna NULL NULL 0.975:0.974 - - - no_errors RPLP0P2 HGNC ENSG00000243742 tier1 13 0 0.00 13 7 35.00 RPS27A 0 genome.wustl.edu 37 2 55462017 55462019 + In_Frame_Del DEL GAA GAA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 55462017 55462019 GAA - DEL RPS27A ENST00000272317 human ensembl 74_37 +1 known in_frame_del c.240_242 p.K83in_frame_del 0.998:1.000:1.000 NULL pfam_Ubiquitin_dom,pfam_Ribosomal_S27a,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors RPS27A HGNC ENSG00000143947 tier1 28 0 0.00 20 4 16.67 RPS6KA6 0 genome.wustl.edu 37 X 83403063 83403063 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 83403063 83403063 T - DEL RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known frame_shift_del c.327 p.A110fs 0.992 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_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 tier1 47 0 0.00 48 23 32.39 RPS6KC1 0 genome.wustl.edu 37 1 213414401 213414401 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 213414401 213414401 T C SNP RPS6KC1 ENST00000366960 human ensembl 74_37 +1 known missense c.1582 p.S528P 0.629 NULL pfam_Prot_kinase_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors RPS6KC1 HGNC ENSG00000136643 tier1 - - 39 0 0.00 50 15 23.08 RPTOR 0 genome.wustl.edu 37 17 78796081 78796081 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 78796081 78796081 C T SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known missense c.971 p.A324V 1.000 prints_Raptor pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 tier1 - - 345 0 0.00 292 90 23.56 RPTOR 0 genome.wustl.edu 37 17 78933973 78933973 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 78933973 78933973 C T SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known silent c.3573 p.R1191 0.013 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 tier1 - - 55 0 0.00 57 9 13.64 RRBP1 0 genome.wustl.edu 37 20 17614257 17614257 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 17614257 17614257 G A SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known nonsense c.2458 p.Q820* 1.000 superfamily_Ribosome_recyc_fac_dom pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 tier1 - - 72 0 0.00 54 25 31.65 RRP12 0 genome.wustl.edu 37 10 99132890 99132890 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 99132890 99132890 C T SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known silent c.2094 p.G698 0.986 superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 tier1 - - 72 0 0.00 90 19 17.43 RTEL1 0 genome.wustl.edu 37 20 62294213 62294213 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 62294213 62294213 G A SNP RTEL1 ENST00000318100 human ensembl 74_37 +1 known missense c.509 p.R170H 1.000 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 tier1 - - 139 0 0.00 127 32 20.13 RUNX1T1 0 genome.wustl.edu 37 8 92998450 92998450 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 92998450 92998450 C T SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known missense c.1214 p.R405Q 1.000 pfam_NHR2 pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 tier1 - - 116 0 0.00 169 29 14.57 RUNX2 0 genome.wustl.edu 37 6 45296446 45296446 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 45296446 45296446 A - DEL RUNX2 ENST00000352853 human ensembl 74_37 +1 known frame_shift_del c.187 p.G66fs 0.983 NULL pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 tier1 54 0 0.00 68 22 24.44 RUSC1 0 genome.wustl.edu 37 1 155291869 155291869 + Missense_Mutation SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 155291869 155291869 G C SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known missense c.305 p.C102S 1.000 NULL pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 tier1 - - 45 0 0.00 44 11 20.00 RYR1 0 genome.wustl.edu 37 19 38964152 38964152 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 38964152 38964152 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.3901 p.R1301C 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 33 0 0.00 37 9 19.57 RYR3 0 genome.wustl.edu 37 15 33941407 33941407 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 33941407 33941407 A G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.4113 p.L1371 0.996 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 140 0 0.00 179 38 17.51 RYR3 0 genome.wustl.edu 37 15 34049779 34049779 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 34049779 34049779 A C SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.8687 p.E2896A 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 18 0 0.00 26 6 18.75 S1PR5 0 genome.wustl.edu 37 19 10624502 10624502 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 10624502 10624502 C T SNP S1PR5 ENST00000333430 human ensembl 74_37 -1 known missense c.1186 p.A396T 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR5 HGNC ENSG00000180739 tier1 - - 102 0 0.00 73 23 23.96 SACS 0 genome.wustl.edu 37 13 23909033 23909033 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 23909033 23909033 A G SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.8982 p.P2994 0.997 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 99 0 0.00 87 13 13.00 SALL4 0 genome.wustl.edu 37 20 50400936 50400936 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 50400936 50400936 G A SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known silent c.3030 p.N1010 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 tier1 - - 81 0 0.00 74 26 26.00 SAMD3 0 genome.wustl.edu 37 6 130535492 130535492 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 130535492 130535492 C T SNP SAMD3 ENST00000368134 human ensembl 74_37 -1 known missense c.259 p.A87T 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD3 HGNC ENSG00000164483 tier1 - - 141 0 0.00 144 40 21.74 SART3 0 genome.wustl.edu 37 12 108926084 108926084 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 108926084 108926084 C T SNP SART3 ENST00000228284 human ensembl 74_37 -1 known missense c.1583 p.R528Q 1.000 NULL pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 tier1 - - 64 0 0.00 66 20 23.26 SASS6 0 genome.wustl.edu 37 1 100553700 100553700 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 100553700 100553700 C A SNP SASS6 ENST00000287482 human ensembl 74_37 -1 known missense c.1767 p.K589N 1.000 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 tier1 - - 74 0 0.00 62 22 26.19 SCARF1 0 genome.wustl.edu 37 17 1540090 1540090 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 1540090 1540090 C T SNP SCARF1 ENST00000263071 human ensembl 74_37 -1 known missense c.1546 p.G516S 0.994 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 tier1 - - 309 0 0.00 266 65 19.64 SCARF1 0 genome.wustl.edu 37 17 1542119 1542119 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 1542119 1542119 G - DEL SCARF1 ENST00000263071 human ensembl 74_37 -1 known frame_shift_del c.1345 p.R449fs 0.024 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 tier1 41 0 0.00 35 7 16.67 SCARNA9 0 genome.wustl.edu 37 11 93454921 93454921 + RNA DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 93454921 93454921 G - DEL SCARNA9 ENST00000530422 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors SCARNA9 HGNC ENSG00000254911 tier1 19 0 0.00 21 8 27.59 SCFD2 0 genome.wustl.edu 37 4 54011688 54011688 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 54011688 54011688 A G SNP SCFD2 ENST00000401642 human ensembl 74_37 -1 known missense c.1373 p.V458A 0.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD2 HGNC ENSG00000184178 tier1 - - 95 0 0.00 97 30 23.62 SCN4A 0 genome.wustl.edu 37 17 62028988 62028988 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 62028988 62028988 G A SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known silent c.2649 p.P883 0.033 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 tier1 - - 18 0 0.00 19 8 29.63 SCUBE2 0 genome.wustl.edu 37 11 9048995 9048996 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 9048995 9048996 - G INS SCUBE2 ENST00000457346 human ensembl 74_37 -1 known frame_shift_ins c.2617_2616 p.K872fs 1.000:0.978 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 tier1 62 0 0.00 52 9 14.75 SDAD1P1 0 genome.wustl.edu 37 8 26237891 26237891 + RNA SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 26237891 26237891 T G SNP SDAD1P1 ENST00000519902 human ensembl 74_37 -1 known rna NULL NULL 0.951 - - - no_errors SDAD1P1 HGNC ENSG00000228451 tier1 - - 31 0 0.00 77 12 13.48 SDCCAG8 0 genome.wustl.edu 37 1 243542145 243542145 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 243542145 243542145 G T SNP SDCCAG8 ENST00000366541 human ensembl 74_37 +1 known missense c.1596 p.E532D 1.000 NULL NULL - no_errors SDCCAG8 HGNC ENSG00000054282 tier1 - - 74 0 0.00 74 27 26.73 SDK1 0 genome.wustl.edu 37 7 4050653 4050653 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 4050653 4050653 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.2187 p.T729 0.450 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 54 0 0.00 48 6 11.11 SDK1 0 genome.wustl.edu 37 7 4185504 4185504 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 4185504 4185504 G - DEL SDK1 ENST00000404826 human ensembl 74_37 +1 known frame_shift_del c.4379 p.E1462fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 114 0 0.00 118 13 9.92 SDK1 0 genome.wustl.edu 37 7 4277291 4277291 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 4277291 4277291 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.6005 p.A2002V 0.293 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 130 0 0.00 111 22 16.54 SEC14L1 0 genome.wustl.edu 37 17 75190832 75190832 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 75190832 75190832 C T SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known missense c.548 p.P183L 1.000 NULL pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 tier1 - - 165 0 0.00 135 37 21.51 SEC14L1 0 genome.wustl.edu 37 17 75205426 75205426 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 75205426 75205426 C T SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known silent c.1479 p.C493 1.000 superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 tier1 - - 33 0 0.00 37 17 31.48 SEC22B 0 genome.wustl.edu 37 1 145116027 145116027 + RNA SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 145116027 145116027 T C SNP SEC22B ENST00000453618 human ensembl 74_37 +1 known rna NULL NULL 0.928 - - - no_errors SEC22B HGNC ENSG00000223380 tier1 rs7550440 - 11 0 0.00 21 7 25.00 SEC23B 0 genome.wustl.edu 37 20 18523668 18523668 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 18523668 18523668 C T SNP SEC23B ENST00000262544 human ensembl 74_37 +1 known missense c.1517 p.A506V 1.000 pfam_Sec23_24_beta_S pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC ENSG00000101310 tier1 - - 193 0 0.00 173 118 40.55 SEC24C 0 genome.wustl.edu 37 10 75529469 75529469 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 75529469 75529469 C A SNP SEC24C ENST00000339365 human ensembl 74_37 +1 known missense c.2660 p.A887D 1.000 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 tier1 - - 81 0 0.00 77 17 17.89 SEC31A 0 genome.wustl.edu 37 4 83785565 83785565 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 83785565 83785565 T - DEL SEC31A ENST00000432794 human ensembl 74_37 -1 known frame_shift_del c.1384 p.I462fs 0.985 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 tier1 60 0 0.00 65 15 18.75 SEC63 0 genome.wustl.edu 37 6 108225903 108225904 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 108225903 108225904 - T INS SEC63 ENST00000369002 human ensembl 74_37 -1 known frame_shift_ins c.984_983 p.C329fs 0.999:1.000 pfam_Sec63-dom,superfamily_ARM-type_fold,smart_Sec63-dom pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain - no_errors SEC63 HGNC ENSG00000025796 tier1 122 0 0.00 167 39 18.93 SEMA3A 0 genome.wustl.edu 37 7 83610721 83610721 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 83610721 83610721 G A SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known missense c.1568 p.A523V 1.000 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 tier1 - - 32 0 0.00 28 12 30.00 SEMA5B 0 genome.wustl.edu 37 3 122646697 122646697 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 122646697 122646697 G A SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.952 p.R318C 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 tier1 - - 95 0 0.00 101 27 21.09 SERPINA1 0 genome.wustl.edu 37 14 94844885 94844885 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 94844885 94844885 G - DEL SERPINA1 ENST00000355814 human ensembl 74_37 -1 known frame_shift_del c.1158 p.E387fs 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA1 HGNC ENSG00000197249 tier1 65 0 0.00 71 15 17.44 SERPINA1 0 genome.wustl.edu 37 14 94849521 94849521 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 94849521 94849521 C A SNP SERPINA1 ENST00000355814 human ensembl 74_37 -1 known silent c.54 p.L18 0.989 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA1 HGNC ENSG00000197249 tier1 - - 72 0 0.00 72 11 13.25 SERPINA10 0 genome.wustl.edu 37 14 94754718 94754718 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 94754718 94754718 C T SNP SERPINA10 ENST00000261994 human ensembl 74_37 -1 known silent c.897 p.L299 0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA10 HGNC ENSG00000140093 tier1 - - 53 0 0.00 67 14 17.28 SERPINA4 0 genome.wustl.edu 37 14 95030079 95030079 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 95030079 95030079 C T SNP SERPINA4 ENST00000298841 human ensembl 74_37 +1 known missense c.260 p.A87V 0.368 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA4 HGNC ENSG00000100665 tier1 - - 56 0 0.00 57 14 19.72 SERPINB9 0 genome.wustl.edu 37 6 2893766 2893766 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 2893766 2893766 G A SNP SERPINB9 ENST00000380698 human ensembl 74_37 -1 known missense c.446 p.P149L 0.058 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB9 HGNC ENSG00000170542 tier1 - - 78 0 0.00 62 22 26.19 SERPINE2 0 genome.wustl.edu 37 2 224856532 224856532 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 224856532 224856532 C T SNP SERPINE2 ENST00000258405 human ensembl 74_37 -1 known missense c.673 p.V225M 0.421 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE2 HGNC ENSG00000135919 tier1 - - 56 0 0.00 48 12 20.00 SETX 0 genome.wustl.edu 37 9 135203684 135203684 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 135203684 135203684 T C SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.3301 p.N1101D 0.003 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 tier1 - - 65 0 0.00 69 14 16.87 SGK2 0 genome.wustl.edu 37 20 42198046 42198046 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 42198046 42198046 C T SNP SGK2 ENST00000341458 human ensembl 74_37 +1 known missense c.430 p.R144C 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors SGK2 HGNC ENSG00000101049 tier1 - - 75 0 0.00 47 12 20.34 SGK223 0 genome.wustl.edu 37 8 8185621 8185621 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 8185621 8185621 G A SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.2671 p.L891F 0.967 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 tier1 - - 248 0 0.00 445 39 8.06 SGOL2 0 genome.wustl.edu 37 2 201436466 201436466 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 201436466 201436466 A C SNP SGOL2 ENST00000357799 human ensembl 74_37 +1 known missense c.1397 p.Q466P 0.004 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 tier1 - - 269 0 0.00 228 74 24.50 SH2D5 0 genome.wustl.edu 37 1 21050627 21050627 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 21050627 21050627 A G SNP SH2D5 ENST00000444387 human ensembl 74_37 -1 known missense c.748 p.Y250H 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH2 - no_errors SH2D5 HGNC ENSG00000189410 tier1 - - 111 0 0.00 105 22 17.32 SH3BP1 0 genome.wustl.edu 37 22 38051314 38051314 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 38051314 38051314 C - DEL SH3BP1 ENST00000357436 human ensembl 74_37 +1 known frame_shift_del c.1729 p.Q579fs 0.981 NULL pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 tier1 32 0 0.00 32 8 20.00 SH3GL1 0 genome.wustl.edu 37 19 4364212 4364212 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 4364212 4364212 G A SNP SH3GL1 ENST00000269886 human ensembl 74_37 -1 known missense c.338 p.A113V 1.000 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC ENSG00000141985 tier1 - - 117 0 0.00 116 9 7.20 SH3YL1 0 genome.wustl.edu 37 2 233216 233216 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 233216 233216 T C SNP SH3YL1 ENST00000356150 human ensembl 74_37 -1 known missense c.418 p.N140D 0.360 pfam_Ysc84_actin-binding pfam_Ysc84_actin-binding,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors SH3YL1 HGNC ENSG00000035115 tier1 - - 28 0 0.00 29 9 23.68 SHC1 0 genome.wustl.edu 37 1 154938963 154938963 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 154938963 154938963 A C SNP SHC1 ENST00000368445 human ensembl 74_37 -1 known missense c.1014 p.D338E 1.000 pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC1 HGNC ENSG00000160691 19 0 0.00 22 2 8.33 SHC2 0 genome.wustl.edu 37 19 434721 434721 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 434721 434721 C T SNP SHC2 ENST00000264554 human ensembl 74_37 -1 known silent c.1098 p.T366 0.000 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC2 HGNC ENSG00000129946 tier1 - - 59 0 0.00 53 9 14.52 SHCBP1L 0 genome.wustl.edu 37 1 182921832 182921832 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 182921832 182921832 G A SNP SHCBP1L ENST00000467208 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SHCBP1L HGNC ENSG00000157060 tier1 - - 33 0 0.00 19 13 40.62 SHROOM3 0 genome.wustl.edu 37 4 77662468 77662468 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 77662468 77662468 C T SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.3142 p.R1048C 0.006 pfam_ASD1 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 tier1 - - 29 0 0.00 48 14 22.58 SHROOM3 0 genome.wustl.edu 37 4 77675852 77675852 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 77675852 77675852 G A SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.4216 p.D1406N 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 tier1 rs200718300 - 36 0 0.00 52 11 17.46 SIGLEC14 0 genome.wustl.edu 37 19 52147171 52147171 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 52147171 52147171 T - DEL SIGLEC14 ENST00000360844 human ensembl 74_37 -1 known frame_shift_del c.873 p.A292fs 0.004 pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC14 HGNC ENSG00000254415 tier1 32 0 0.00 17 11 39.29 SIGLECL1 0 genome.wustl.edu 37 19 51767298 51767298 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 51767298 51767298 G A SNP SIGLECL1 ENST00000593968 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors SIGLECL1 HGNC ENSG00000179213 tier1 - - 107 0 0.00 121 19 13.57 SIM1 0 genome.wustl.edu 37 6 100896434 100896434 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 100896434 100896434 C T SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known missense c.664 p.V222I 1.000 smart_PAS pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 tier1 - - 52 0 0.00 62 5 7.46 SIN3B 0 genome.wustl.edu 37 19 16980344 16980344 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 16980344 16980344 G A SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known missense c.1976 p.R659Q 0.903 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 tier1 - - 58 0 0.00 66 14 17.50 SIPA1L3 0 genome.wustl.edu 37 19 38610300 38610300 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 38610300 38610300 G - DEL SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known frame_shift_del c.2646 p.V884fs 0.999 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 tier1 126 0 0.00 136 16 10.53 SLC12A4 0 genome.wustl.edu 37 16 67978779 67978779 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 67978779 67978779 G A SNP SLC12A4 ENST00000422611 human ensembl 74_37 -1 known silent c.3228 p.R1076 0.483 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 tier1 rs142644491 - 54 0 0.00 56 10 15.15 SLC12A7 0 genome.wustl.edu 37 5 1076272 1076272 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 1076272 1076272 G A SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known missense c.1828 p.R610C 0.999 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 tier1 - - 21 0 0.00 19 4 17.39 SLC16A10 0 genome.wustl.edu 37 6 111498763 111498763 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 111498763 111498763 A - DEL SLC16A10 ENST00000368851 human ensembl 74_37 +1 known frame_shift_del c.837 p.I282fs 0.651 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A10 HGNC ENSG00000112394 tier1 68 0 0.00 63 16 20.25 SLC16A12 0 genome.wustl.edu 37 10 91203598 91203598 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 91203598 91203598 A - DEL SLC16A12 ENST00000371790 human ensembl 74_37 -1 known frame_shift_del c.219 p.F73fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A12 HGNC ENSG00000152779 tier1 24 0 0.00 42 6 12.50 SLC19A2 0 genome.wustl.edu 37 1 169438066 169438067 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 169438066 169438067 - A INS SLC19A2 ENST00000236137 human ensembl 74_37 -1 known frame_shift_ins c.1039_1038 p.A346fs 1.000:0.996 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier - no_errors SLC19A2 HGNC ENSG00000117479 tier1 87 0 0.00 91 28 23.53 SLC20A2 0 genome.wustl.edu 37 8 42275486 42275486 + Splice_Site SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 42275486 42275486 C A SNP SLC20A2 ENST00000342228 human ensembl 74_37 -1 known splice_site c.1795-1 e10-1 1.000 - - - no_errors SLC20A2 HGNC ENSG00000168575 tier1 - - 72 0 0.00 90 20 18.18 SLC22A10 0 genome.wustl.edu 37 11 63072237 63072237 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 63072237 63072237 T - DEL SLC22A10 ENST00000332793 human ensembl 74_37 +1 known frame_shift_del c.1474 p.F493fs 0.002 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 tier1 106 0 0.00 117 37 24.03 SLC22A11 0 genome.wustl.edu 37 11 64336241 64336241 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 64336241 64336241 C T SNP SLC22A11 ENST00000301891 human ensembl 74_37 +1 known missense c.1373 p.T458M 0.182 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A11 HGNC ENSG00000168065 tier1 - - 98 0 0.00 70 16 18.60 SLC22A20 0 genome.wustl.edu 37 11 64981481 64981481 + RNA DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 64981481 64981481 C - DEL SLC22A20 ENST00000525264 human ensembl 74_37 +1 known rna NULL NULL 0.963 - - - no_errors SLC22A20 HGNC ENSG00000197847 tier1 24 0 0.00 20 5 20.00 SLC23A1 0 genome.wustl.edu 37 5 138718916 138718917 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 138718916 138718917 - C INS SLC23A1 ENST00000353963 human ensembl 74_37 -1 known frame_shift_ins c.27_26 p.R10fs 0.019:0.018 NULL pfam_Xant/urac/vitC - no_errors SLC23A1 HGNC ENSG00000170482 tier1 42 0 0.00 21 3 12.50 SLC24A4 0 genome.wustl.edu 37 14 92900274 92900274 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 92900274 92900274 C T SNP SLC24A4 ENST00000532405 human ensembl 74_37 +1 known missense c.260 p.T87I 0.067 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A4 HGNC ENSG00000140090 tier1 - - 90 0 0.00 135 23 14.56 SLC25A13 0 genome.wustl.edu 37 7 95751263 95751263 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 95751263 95751263 C T SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known silent c.1641 p.T547 0.019 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 tier1 rs143706021 - 80 0 0.00 112 16 12.50 SLC26A7 0 genome.wustl.edu 37 8 92352747 92352747 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 92352747 92352747 A - DEL SLC26A7 ENST00000309536 human ensembl 74_37 +1 known frame_shift_del c.994 p.K333fs 1.000 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 tier1 69 0 0.00 131 13 9.03 SLC27A5 0 genome.wustl.edu 37 19 59012770 59012770 + Silent SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 59012770 59012770 G T SNP SLC27A5 ENST00000263093 human ensembl 74_37 -1 known silent c.1065 p.T355 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC ENSG00000083807 tier1 - - 97 0 0.00 65 25 27.78 SLC27A6 0 genome.wustl.edu 37 5 128326065 128326065 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 128326065 128326065 G A SNP SLC27A6 ENST00000262462 human ensembl 74_37 +1 known missense c.877 p.A293T 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A6 HGNC ENSG00000113396 tier1 - - 51 0 0.00 40 11 21.57 SLC29A3 0 genome.wustl.edu 37 10 73111355 73111355 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 73111355 73111355 G A SNP SLC29A3 ENST00000373189 human ensembl 74_37 +1 known silent c.420 p.T140 0.000 NULL pfam_Eqnu_transpt,prints_Eqnu_transpt - no_errors SLC29A3 HGNC ENSG00000198246 tier1 - - 92 0 0.00 70 19 21.35 SLC35A3 0 genome.wustl.edu 37 1 100483314 100483314 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 100483314 100483314 C T SNP SLC35A3 ENST00000370153 human ensembl 74_37 +1 known missense c.956 p.S319L 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A3 HGNC ENSG00000117620 tier1 - - 19 0 0.00 26 10 27.78 SLC35G5 0 genome.wustl.edu 37 8 11189120 11189120 + Missense_Mutation SNP C C G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 11189120 11189120 C G SNP SLC35G5 ENST00000382435 human ensembl 74_37 +1 known missense c.505 p.L169V 0.932 pfam_DMT pfam_DMT - no_errors SLC35G5 HGNC ENSG00000177710 tier1 - - 275 0 0.00 460 59 11.35 SLC37A1 0 genome.wustl.edu 37 21 43963564 43963564 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 43963564 43963564 G A SNP SLC37A1 ENST00000352133 human ensembl 74_37 +1 known silent c.582 p.G194 0.021 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A1 HGNC ENSG00000160190 tier1 - - 322 0 0.00 249 51 17.00 SLC39A13 0 genome.wustl.edu 37 11 47431843 47431843 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 47431843 47431843 C T SNP SLC39A13 ENST00000362021 human ensembl 74_37 +1 known silent c.198 p.D66 0.999 pfam_ZIP pfam_ZIP - no_errors SLC39A13 HGNC ENSG00000165915 tier1 - - 66 0 0.00 50 18 26.47 SLC3A2 0 genome.wustl.edu 37 11 62649529 62649529 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 62649529 62649529 A - DEL SLC3A2 ENST00000377892 human ensembl 74_37 +1 known frame_shift_del c.985 p.K331fs 1.000 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 111 0 0.00 107 26 19.55 SLC43A2 0 genome.wustl.edu 37 17 1486543 1486543 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 1486543 1486543 G A SNP SLC43A2 ENST00000382147 human ensembl 74_37 -1 known silent c.1317 p.L439 0.045 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A2 HGNC ENSG00000167703 tier1 - - 174 0 0.00 157 49 23.79 SLC44A4 0 genome.wustl.edu 37 6 31832446 31832446 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 31832446 31832446 G A SNP SLC44A4 ENST00000229729 human ensembl 74_37 -1 known missense c.1994 p.T665M 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 tier1 - - 178 0 0.00 175 32 15.46 SLC46A1 0 genome.wustl.edu 37 17 26732939 26732939 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 26732939 26732939 C - DEL SLC46A1 ENST00000440501 human ensembl 74_37 -1 known frame_shift_del c.194 p.G65fs 0.287 pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC46A1 HGNC ENSG00000076351 tier1 19 0 0.00 29 6 17.14 SLC4A2 0 genome.wustl.edu 37 7 150772569 150772569 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 150772569 150772569 C T SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known missense c.3275 p.T1092M 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 tier1 - - 197 0 0.00 231 42 15.38 SLC4A3 0 genome.wustl.edu 37 2 220498034 220498034 + Missense_Mutation SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 220498034 220498034 G C SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known missense c.1397 p.R466P 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 tier1 - - 156 0 0.00 116 21 15.33 SLC52A1 0 genome.wustl.edu 37 17 4936377 4936377 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 4936377 4936377 A G SNP SLC52A1 ENST00000254853 human ensembl 74_37 -1 known silent c.1222 p.L408 1.000 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A1 HGNC ENSG00000132517 tier1 - - 87 0 0.00 86 6 6.52 SLC5A7 0 genome.wustl.edu 37 2 108614308 108614308 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 108614308 108614308 G A SNP SLC5A7 ENST00000264047 human ensembl 74_37 +1 known missense c.463 p.V155M 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter - no_errors SLC5A7 HGNC ENSG00000115665 tier1 - - 222 0 0.00 225 57 20.21 SLC6A11 0 genome.wustl.edu 37 3 10858173 10858173 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 10858173 10858173 C - DEL SLC6A11 ENST00000254488 human ensembl 74_37 +1 known frame_shift_del c.223 p.R75fs 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3 - no_errors SLC6A11 HGNC ENSG00000132164 tier1 44 0 0.00 32 6 15.79 SLC6A14 0 genome.wustl.edu 37 X 115585600 115585600 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 115585600 115585600 G A SNP SLC6A14 ENST00000371900 human ensembl 74_37 +1 known missense c.1396 p.V466M 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A14 HGNC ENSG00000087916 tier1 - - 59 0 0.00 82 17 17.17 SLC8A1 0 genome.wustl.edu 37 2 40657012 40657012 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 40657012 40657012 G A SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known silent c.409 p.L137 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 tier1 - - 71 0 0.00 86 13 13.13 SLC8A2 0 genome.wustl.edu 37 19 47951328 47951328 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 47951328 47951328 G A SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known missense c.1501 p.R501W 0.993 tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 tier1 - - 13 0 0.00 3 4 57.14 SLC9A4 0 genome.wustl.edu 37 2 103149137 103149137 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 103149137 103149137 A - DEL SLC9A4 ENST00000295269 human ensembl 74_37 +1 known frame_shift_del c.2387 p.K798fs 0.597 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 tier1 37 0 0.00 36 6 14.29 SLC9A8 0 genome.wustl.edu 37 20 48467311 48467311 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 48467311 48467311 G - DEL SLC9A8 ENST00000417961 human ensembl 74_37 +1 known frame_shift_del c.547 p.V183fs 0.897 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 tier1 24 0 0.00 27 5 15.62 SLC9B2 0 genome.wustl.edu 37 4 103987654 103987654 + Missense_Mutation SNP A A T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 103987654 103987654 A T SNP SLC9B2 ENST00000362026 human ensembl 74_37 -1 known missense c.101 p.V34D 0.002 NULL pfam_Cation/H_exchanger - no_errors SLC9B2 HGNC ENSG00000164038 tier1 - - 60 0 0.00 43 18 29.51 SLC9C1 0 genome.wustl.edu 37 3 112005610 112005610 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 112005610 112005610 A - DEL SLC9C1 ENST00000305815 human ensembl 74_37 -1 known frame_shift_del c.29 p.F10fs 0.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 tier1 28 0 0.00 26 10 27.78 SLFN11 0 genome.wustl.edu 37 17 33689813 33689813 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 33689813 33689813 G A SNP SLFN11 ENST00000308377 human ensembl 74_37 -1 known silent c.1014 p.Y338 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN11 HGNC ENSG00000172716 tier1 - - 70 0 0.00 92 23 20.00 SLIT2 0 genome.wustl.edu 37 4 20535227 20535227 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 20535227 20535227 A G SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.1721 p.E574G 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 64 0 0.00 47 21 30.88 SLITRK3 0 genome.wustl.edu 37 3 164906924 164906924 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 164906924 164906924 G A SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known silent c.1695 p.D565 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 tier1 - - 78 0 0.00 83 21 20.19 SLITRK4 0 genome.wustl.edu 37 X 142718126 142718126 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 142718126 142718126 C T SNP SLITRK4 ENST00000338017 human ensembl 74_37 -1 known missense c.799 p.G267S 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC ENSG00000179542 tier1 - - 87 0 0.00 104 19 15.45 SMAD6 0 genome.wustl.edu 37 15 67073596 67073596 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 67073596 67073596 G A SNP SMAD6 ENST00000288840 human ensembl 74_37 +1 known missense c.1214 p.R405H 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD6 HGNC ENSG00000137834 tier1 - - 76 0 0.00 70 19 20.88 SMC4 0 genome.wustl.edu 37 3 160132293 160132293 + Missense_Mutation SNP A A T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 160132293 160132293 A T SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known missense c.1260 p.K420N 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 tier1 - - 14 0 0.00 19 9 32.14 SMPD4 0 genome.wustl.edu 37 2 130930891 130930891 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 130930891 130930891 A G SNP SMPD4 ENST00000409031 human ensembl 74_37 -1 known silent c.423 p.A141 1.000 NULL NULL - no_errors SMPD4 HGNC ENSG00000136699 tier1 - - 137 0 0.00 115 38 24.84 SNAI2 0 genome.wustl.edu 37 8 49831372 49831372 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 49831372 49831372 T C SNP SNAI2 ENST00000020945 human ensembl 74_37 -1 known silent c.801 p.A267 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 tier1 - - 89 0 0.00 162 29 15.18 SNAI3 0 genome.wustl.edu 37 16 88744962 88744962 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 88744962 88744962 G A SNP SNAI3 ENST00000332281 human ensembl 74_37 -1 known missense c.773 p.T258M 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI3 HGNC ENSG00000185669 tier1 rs201681397 - 54 0 0.00 60 14 18.92 SNORA26 0 genome.wustl.edu 37 4 53579473 53579473 + RNA SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 53579473 53579473 G C SNP SNORA26 ENST00000391286 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORA26 HGNC ENSG00000212588 tier1 - - 111 0 0.00 134 14 9.46 SNORD116-20 0 genome.wustl.edu 37 15 25332982 25332982 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 25332982 25332982 G A SNP SNORD116-20 ENST00000567527 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD116-20 HGNC ENSG00000261069 tier1 - - 26 0 0.00 40 12 23.08 SNORD116-6 0 genome.wustl.edu 37 15 25310193 25310193 + RNA DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 25310193 25310193 A - DEL SNORD116-6 ENST00000384711 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-6 HGNC ENSG00000207442 tier1 107 0 0.00 142 23 13.94 SNORD64 0 genome.wustl.edu 37 15 25230192 25230192 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 25230192 25230192 T - DEL SNORD64 ENST00000605533 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD64 HGNC ENSG00000270704 tier1 32 0 0.00 29 5 14.71 SNX18 0 genome.wustl.edu 37 5 53815285 53815285 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 53815285 53815285 C T SNP SNX18 ENST00000326277 human ensembl 74_37 +1 known silent c.1503 p.D501 0.028 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX18 HGNC ENSG00000178996 tier1 - - 91 0 0.00 76 26 25.49 SNX21 0 genome.wustl.edu 37 20 44470649 44470651 + RNA DEL TTT TTT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 44470649 44470651 TTT - DEL SNX21 ENST00000344780 human ensembl 74_37 +1 known rna NULL NULL 0.017:0.013:0.007 - - - no_errors SNX21 HGNC ENSG00000124104 tier1 13 0 0.00 7 3 30.00 SNX25 0 genome.wustl.edu 37 4 186272695 186272695 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 186272695 186272695 A - DEL SNX25 ENST00000264694 human ensembl 74_37 +1 known frame_shift_del c.1906 p.N638fs 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX25 HGNC ENSG00000109762 tier1 65 0 0.00 63 21 25.00 SOCS6 0 genome.wustl.edu 37 18 67992095 67992096 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 67992095 67992096 - A INS SOCS6 ENST00000397942 human ensembl 74_37 +1 known frame_shift_ins c.191_192 p.N66fs 0.998:0.000 NULL pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC ENSG00000170677 tier1 85 0 0.00 120 17 12.41 SOD3 0 genome.wustl.edu 37 4 24801207 24801207 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 24801207 24801207 G A SNP SOD3 ENST00000382120 human ensembl 74_37 +1 known missense c.64 p.E22K 0.000 NULL pfam_SOD_Cu_Zn_dom,superfamily_SOD_Cu_Zn_dom,prints_SOD_Cu_Zn_dom - no_errors SOD3 HGNC ENSG00000109610 tier1 - - 15 0 0.00 16 7 30.43 SOGA3 0 genome.wustl.edu 37 6 127796446 127796446 + Splice_Site SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 127796446 127796446 C T SNP SOGA3 ENST00000465909 human ensembl 74_37 -1 novel splice_site c.2724+1 e5+1 1.000 - - - no_errors SOGA3 HGNC ENSG00000214338 tier1 - - 91 0 0.00 76 12 13.64 SORCS2 0 genome.wustl.edu 37 4 7684595 7684595 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 7684595 7684595 A - DEL SORCS2 ENST00000507866 human ensembl 74_37 +1 known frame_shift_del c.1467 p.K490fs 0.636 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 tier1 28 0 0.00 26 7 21.21 SOX11 0 genome.wustl.edu 37 2 5833867 5833867 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 5833867 5833867 G A SNP SOX11 ENST00000322002 human ensembl 74_37 +1 known silent c.1014 p.S338 0.999 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 18 0 0.00 19 4 17.39 SOX7 0 genome.wustl.edu 37 8 10583646 10583646 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 10583646 10583646 G - DEL SOX7 ENST00000553390 human ensembl 74_37 -1 known frame_shift_del c.925 p.L309fs 0.665 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 tier1 70 0 0.00 104 15 12.61 SOX7 0 genome.wustl.edu 37 8 10583913 10583913 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 10583913 10583913 C T SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known missense c.658 p.G220S 0.000 NULL pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 tier1 - - 29 0 0.00 53 7 11.67 SOX8 0 genome.wustl.edu 37 16 1035259 1035260 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 1035259 1035260 - C INS SOX8 ENST00000293894 human ensembl 74_37 +1 known frame_shift_ins c.1214_1215 p.C407fs 1.000:1.000 NULL pfam_HMG_box_dom,pfam_Sox_N,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX8 HGNC ENSG00000005513 tier1 61 0 0.00 57 14 19.72 SPATA2 0 genome.wustl.edu 37 20 48522570 48522570 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 48522570 48522570 G A SNP SPATA2 ENST00000289431 human ensembl 74_37 -1 known silent c.1149 p.C383 1.000 NULL NULL - no_errors SPATA2 HGNC ENSG00000158480 tier1 - - 88 0 0.00 66 22 25.00 SPATA2 0 genome.wustl.edu 37 20 48522746 48522746 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 48522746 48522746 G A SNP SPATA2 ENST00000289431 human ensembl 74_37 -1 known missense c.973 p.R325C 0.050 NULL NULL - no_errors SPATA2 HGNC ENSG00000158480 tier1 - - 109 0 0.00 127 29 18.59 SPATA22 0 genome.wustl.edu 37 17 3370829 3370829 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 3370829 3370829 C A SNP SPATA22 ENST00000397168 human ensembl 74_37 -1 known missense c.63 p.L21F 0.969 NULL NULL - no_errors SPATA22 HGNC ENSG00000141255 tier1 - - 31 0 0.00 21 10 32.26 SPATA2L 0 genome.wustl.edu 37 16 89764374 89764374 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 89764374 89764374 G - DEL SPATA2L ENST00000289805 human ensembl 74_37 -1 known frame_shift_del c.643 p.R215fs 0.010 NULL NULL - no_errors SPATA2L HGNC ENSG00000158792 tier1 44 0 0.00 31 8 20.51 SPATA6 0 genome.wustl.edu 37 1 48821319 48821319 + RNA DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 48821319 48821319 A - DEL SPATA6 ENST00000487629 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors SPATA6 HGNC ENSG00000132122 tier1 30 0 0.00 40 7 14.89 SPEG 0 genome.wustl.edu 37 2 220334066 220334066 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 220334066 220334066 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.3680 p.R1227H 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 SPEG HGNC ENSG00000072195 tier1 - - 50 0 0.00 38 13 25.49 SPEG 0 genome.wustl.edu 37 2 220350083 220350083 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 220350083 220350083 G T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.7625 p.R2542L 0.988 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 SPEG HGNC ENSG00000072195 tier1 - - 184 0 0.00 174 41 19.07 SPERT 0 genome.wustl.edu 37 13 46287584 46287584 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 46287584 46287584 C A SNP SPERT ENST00000310521 human ensembl 74_37 +1 known missense c.424 p.L142M 0.993 NULL NULL - no_errors SPERT HGNC ENSG00000174015 tier1 - - 101 0 0.00 100 16 13.79 SPIRE2 0 genome.wustl.edu 37 16 89925676 89925676 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 89925676 89925676 C T SNP SPIRE2 ENST00000378247 human ensembl 74_37 +1 known missense c.1376 p.S459L 0.728 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE2 HGNC ENSG00000204991 tier1 - - 50 0 0.00 42 11 20.75 SPO11 0 genome.wustl.edu 37 20 55909120 55909120 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 55909120 55909120 T C SNP SPO11 ENST00000371263 human ensembl 74_37 +1 known missense c.479 p.M160T 1.000 pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Spo11/TopoVI_A pfam_Meiosis_Spo11,pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A - no_errors SPO11 HGNC ENSG00000054796 29 0 0.00 31 4 11.43 SPOCD1 0 genome.wustl.edu 37 1 32259758 32259758 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 32259758 32259758 G A SNP SPOCD1 ENST00000360482 human ensembl 74_37 -1 known missense c.2350 p.H784Y 0.751 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 tier1 - - 128 0 0.00 83 41 33.06 SPON1 0 genome.wustl.edu 37 11 14284449 14284449 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 14284449 14284449 C T SNP SPON1 ENST00000310358 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPON1 HGNC ENSG00000152268 tier1 - - 52 0 0.00 60 19 24.05 SPPL2B 0 genome.wustl.edu 37 19 2339114 2339114 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 2339114 2339114 C T SNP SPPL2B ENST00000382189 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPPL2B HGNC ENSG00000005206 tier1 - - 8 0 0.00 6 6 50.00 SPPL2C 0 genome.wustl.edu 37 17 43922905 43922905 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 43922905 43922905 C A SNP SPPL2C ENST00000329196 human ensembl 74_37 +1 known missense c.633 p.N211K 0.003 NULL pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2C HGNC ENSG00000185294 tier1 - - 110 0 0.00 105 29 21.64 SPRYD7 0 genome.wustl.edu 37 13 50495667 50495667 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 50495667 50495667 T - DEL SPRYD7 ENST00000361840 human ensembl 74_37 -1 known frame_shift_del c.440 p.N147fs 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors SPRYD7 HGNC ENSG00000123178 tier1 64 0 0.00 84 27 24.32 SPTBN1 0 genome.wustl.edu 37 2 54849501 54849501 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 54849501 54849501 T C SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.941 p.L314P 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 SPTBN1 HGNC ENSG00000115306 tier1 - - 115 0 0.00 129 14 9.79 SQLE 0 genome.wustl.edu 37 8 126011845 126011845 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 126011845 126011845 C T SNP SQLE ENST00000265896 human ensembl 74_37 +1 known missense c.200 p.S67L 0.080 NULL pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like - no_errors SQLE HGNC ENSG00000104549 tier1 - - 46 0 0.00 59 6 9.23 SRF 0 genome.wustl.edu 37 6 43143531 43143531 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 43143531 43143531 C T SNP SRF ENST00000265354 human ensembl 74_37 +1 known nonsense c.868 p.Q290* 1.000 NULL pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors SRF HGNC ENSG00000112658 tier1 - - 168 0 0.00 127 49 27.84 SRGN 0 genome.wustl.edu 37 10 70864014 70864014 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 70864014 70864014 T - DEL SRGN ENST00000462445 human ensembl 74_37 +1 known rna NULL NULL 0.118 - - - no_errors SRGN HGNC ENSG00000122862 tier1 20 0 0.00 10 4 28.57 SRP72 0 genome.wustl.edu 37 4 57333820 57333820 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 57333820 57333820 G - DEL SRP72 ENST00000342756 human ensembl 74_37 +1 known frame_shift_del c.19 p.V9fs 0.920 NULL pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SRP72 HGNC ENSG00000174780 tier1 37 0 0.00 40 4 9.09 SRRM2 0 genome.wustl.edu 37 16 2812424 2812424 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 2812424 2812424 G A SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.1895 p.R632Q 0.811 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 117 0 0.00 80 29 26.61 SRRT 0 genome.wustl.edu 37 7 100479717 100479717 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 100479717 100479717 G A SNP SRRT ENST00000388793 human ensembl 74_37 +1 known missense c.442 p.V148M 0.534 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 tier1 - - 130 0 0.00 129 29 18.35 SRRT 0 genome.wustl.edu 37 7 100481743 100481743 + Missense_Mutation SNP C C G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 100481743 100481743 C G SNP SRRT ENST00000388793 human ensembl 74_37 +1 known missense c.640 p.R214G 1.000 pfam_DUF3546 pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 tier1 - - 114 0 0.00 96 21 17.80 SSBP4 0 genome.wustl.edu 37 19 18545051 18545051 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 18545051 18545051 G A SNP SSBP4 ENST00000270061 human ensembl 74_37 +1 known missense c.1153 p.V385M 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP4 HGNC ENSG00000130511 tier1 - - 124 0 0.00 86 29 25.22 SSH2 0 genome.wustl.edu 37 17 27957960 27957960 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 27957960 27957960 C T SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.4171 p.V1391M 0.014 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 - - 143 0 0.00 180 53 22.75 ST14 0 genome.wustl.edu 37 11 130066524 130066524 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 130066524 130066524 G A SNP ST14 ENST00000278742 human ensembl 74_37 +1 known missense c.1283 p.R428H 0.000 pirsf_Peptidase_S1A_matripase,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors ST14 HGNC ENSG00000149418 tier1 - - 105 0 0.00 90 29 24.37 ST6GALNAC5 0 genome.wustl.edu 37 1 77334258 77334258 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 77334258 77334258 G A SNP ST6GALNAC5 ENST00000477717 human ensembl 74_37 +1 known missense c.92 p.G31D 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC5 HGNC ENSG00000117069 tier1 - - 35 0 0.00 45 21 31.82 STAG3L3 0 genome.wustl.edu 37 7 72470023 72470023 + RNA SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 72470023 72470023 C A SNP STAG3L3 ENST00000423834 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors STAG3L3 HGNC ENSG00000174353 tier1 - - 265 0 0.00 276 35 11.25 STARD4 0 genome.wustl.edu 37 5 110843028 110843028 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 110843028 110843028 G A SNP STARD4 ENST00000296632 human ensembl 74_37 -1 known missense c.104 p.T35M 0.724 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors STARD4 HGNC ENSG00000164211 tier1 rs141662799 - 52 0 0.00 67 14 17.28 STAU1 0 genome.wustl.edu 37 20 47739699 47739699 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 47739699 47739699 T - DEL STAU1 ENST00000371856 human ensembl 74_37 -1 known frame_shift_del c.896 p.K299fs 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU1 HGNC ENSG00000124214 tier1 57 0 0.00 50 17 25.37 STK25 0 genome.wustl.edu 37 2 242432906 242432906 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 242432906 242432906 C T SNP STK25 ENST00000472181 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors STK25 HGNC ENSG00000115694 tier1 - - 29 0 0.00 29 15 34.09 STK40 0 genome.wustl.edu 37 1 36820884 36820884 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 36820884 36820884 T C SNP STK40 ENST00000373130 human ensembl 74_37 -1 known missense c.508 p.K170E 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK40 HGNC ENSG00000196182 tier1 - - 224 0 0.00 207 46 18.18 STRA6 0 genome.wustl.edu 37 15 74494642 74494643 + RNA INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 74494642 74494643 - A INS STRA6 ENST00000573456 human ensembl 74_37 -1 known rna NULL NULL 0.005:0.003 - - - no_errors STRA6 HGNC ENSG00000137868 tier1 13 0 0.00 17 2 10.53 STS 0 genome.wustl.edu 37 X 7268043 7268043 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 7268043 7268043 A G SNP STS ENST00000217961 human ensembl 74_37 +1 known missense c.1493 p.D498G 0.888 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors STS HGNC ENSG00000101846 tier1 - - 86 0 0.00 73 21 22.11 STXBP5L 0 genome.wustl.edu 37 3 121001163 121001163 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 121001163 121001163 C T SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.2161 p.R721W 1.000 NULL pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 tier1 - - 36 0 0.00 33 6 15.38 SUGP1 0 genome.wustl.edu 37 19 19387471 19387471 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 19387471 19387471 G A SNP SUGP1 ENST00000247001 human ensembl 74_37 -1 known missense c.1924 p.R642W 0.689 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP1 HGNC ENSG00000105705 tier1 - - 58 0 0.00 54 13 19.40 SULF2 0 genome.wustl.edu 37 20 46307495 46307495 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 46307495 46307495 G A SNP SULF2 ENST00000359930 human ensembl 74_37 -1 known missense c.1118 p.A373V 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC ENSG00000196562 tier1 - - 146 0 0.00 164 48 22.64 SULT1E1 0 genome.wustl.edu 37 4 70707770 70707770 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 70707770 70707770 T G SNP SULT1E1 ENST00000226444 human ensembl 74_37 -1 known missense c.827 p.D276A 0.989 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1E1 HGNC ENSG00000109193 tier1 - - 50 0 0.00 69 13 15.85 SULT2A1 0 genome.wustl.edu 37 19 48386832 48386832 + Splice_Site SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 48386832 48386832 A G SNP SULT2A1 ENST00000222002 human ensembl 74_37 -1 known splice_site c.345+2 e2+2 1.000 - - - no_errors SULT2A1 HGNC ENSG00000105398 tier1 - - 53 0 0.00 52 12 18.75 SUN1 0 genome.wustl.edu 37 7 883025 883025 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 883025 883025 G A SNP SUN1 ENST00000456758 human ensembl 74_37 +1 known missense c.700 p.A234T 0.066 pfam_SUN1 pfam_SUN1,pfam_Sad1_UNC_C - no_errors SUN1 HGNC ENSG00000164828 tier1 - - 194 0 0.00 183 69 27.38 SUN1 0 genome.wustl.edu 37 7 896026 896026 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 896026 896026 A - DEL SUN1 ENST00000456758 human ensembl 74_37 +1 known frame_shift_del c.1949 p.T652fs 0.009 NULL pfam_SUN1,pfam_Sad1_UNC_C - no_errors SUN1 HGNC ENSG00000164828 tier1 84 0 0.00 82 22 21.15 SUPV3L1 0 genome.wustl.edu 37 10 70968805 70968806 + RNA DEL TT TT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 70968805 70968806 TT - DEL SUPV3L1 ENST00000497254 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors SUPV3L1 HGNC ENSG00000156502 tier1 37 0 0.00 37 13 26.00 SURF6 0 genome.wustl.edu 37 9 136199145 136199145 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 136199145 136199145 G A SNP SURF6 ENST00000372022 human ensembl 74_37 -1 known missense c.646 p.R216C 0.965 pfam_Surf6 pfam_Surf6 - no_errors SURF6 HGNC ENSG00000148296 tier1 - - 76 0 0.00 86 20 18.87 SUSD5 0 genome.wustl.edu 37 3 33194586 33194586 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 33194586 33194586 G A SNP SUSD5 ENST00000309558 human ensembl 74_37 -1 known missense c.1538 p.T513M 0.003 NULL pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP - no_errors SUSD5 HGNC ENSG00000173705 tier1 - - 38 0 0.00 35 8 18.60 SUV420H1 0 genome.wustl.edu 37 11 67934457 67934457 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 67934457 67934457 T - DEL SUV420H1 ENST00000304363 human ensembl 74_37 -1 known frame_shift_del c.1166 p.N389fs 0.524 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 tier1 38 0 0.00 41 13 24.07 SUV420H2 0 genome.wustl.edu 37 19 55853392 55853392 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 55853392 55853392 C T SNP SUV420H2 ENST00000255613 human ensembl 74_37 +1 known missense c.88 p.R30C 0.996 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H2 HGNC ENSG00000133247 tier1 - - 138 0 0.00 93 31 25.00 SVIL 0 genome.wustl.edu 37 10 29759315 29759315 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 29759315 29759315 G A SNP SVIL ENST00000355867 human ensembl 74_37 -1 known silent c.5733 p.S1911 1.000 smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 tier1 - - 105 0 0.00 97 37 27.61 SYBU 0 genome.wustl.edu 37 8 110587276 110587276 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 110587276 110587276 G 0 DEL SYBU ENST00000276646 human ensembl 74_37 -1 known frame_shift_del c.1851 p.V618fs 0.002 NULL NULL - no_errors SYBU HGNC ENSG00000147642 122 0 0.00 195 12 5.80 SYCP2 0 genome.wustl.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 58467047 58467047 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.2362 p.M788fs 0.029 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 tier1 23 0 0.00 28 8 22.22 SYMPK 0 genome.wustl.edu 37 19 46355587 46355587 + Silent SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 46355587 46355587 G C SNP SYMPK ENST00000245934 human ensembl 74_37 -1 known silent c.282 p.G94 1.000 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 tier1 - - 252 0 0.00 186 70 27.34 SYNE1 0 genome.wustl.edu 37 6 152614845 152614845 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 152614845 152614845 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.17890 p.R5964C 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 121 0 0.00 114 47 29.19 SYNE1 0 genome.wustl.edu 37 6 152652706 152652706 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 152652706 152652706 T C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.13114 p.K4372E 0.611 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 59 0 0.00 61 13 17.57 SYNE2 0 genome.wustl.edu 37 14 64522809 64522809 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 64522809 64522809 C T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known nonsense c.9892 p.R3298* 0.000 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 - - 81 0 0.00 89 24 21.24 SYNE3 0 genome.wustl.edu 37 14 95932331 95932331 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 95932331 95932331 G A SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known silent c.564 p.S188 0.846 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 tier1 - - 71 0 0.00 90 18 16.67 SYNGAP1 0 genome.wustl.edu 37 6 33405679 33405679 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 33405679 33405679 A - DEL SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known frame_shift_del c.997 p.K334fs 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 tier1 132 0 0.00 123 34 21.66 SYNJ2 0 genome.wustl.edu 37 6 158505106 158505106 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 158505106 158505106 C T SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known silent c.3108 p.L1036 0.000 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 tier1 - - 302 0 0.00 283 79 21.82 SYT1 0 genome.wustl.edu 37 12 79611356 79611356 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 79611356 79611356 G A SNP SYT1 ENST00000261205 human ensembl 74_37 +1 known silent c.57 p.A19 0.025 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT1 HGNC ENSG00000067715 tier1 - - 61 0 0.00 53 6 10.17 SYT3 0 genome.wustl.edu 37 19 51128721 51128721 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 51128721 51128721 C T SNP SYT3 ENST00000338916 human ensembl 74_37 -1 known silent c.1503 p.A501 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT3 HGNC ENSG00000213023 tier1 - - 14 0 0.00 6 4 40.00 SYT7 0 genome.wustl.edu 37 11 61295431 61295431 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 61295431 61295431 C T SNP SYT7 ENST00000263846 human ensembl 74_37 -1 known missense c.578 p.R193Q 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 tier1 - - 117 0 0.00 93 30 24.19 SYTL1 0 genome.wustl.edu 37 1 27680355 27680356 + RNA DEL CT CT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 27680355 27680356 CT - DEL SYTL1 ENST00000490170 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors SYTL1 HGNC ENSG00000142765 tier1 82 0 0.00 101 15 12.93 SZT2 0 genome.wustl.edu 37 1 43908170 43908170 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 43908170 43908170 C T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known silent c.7861 p.L2621 0.994 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 tier1 - - 108 0 0.00 86 26 23.01 TADA1 0 genome.wustl.edu 37 1 166826737 166826737 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 166826737 166826737 C T SNP TADA1 ENST00000467021 human ensembl 74_37 -1 known rna NULL NULL 0.666 - - - no_errors TADA1 HGNC ENSG00000152382 tier1 - - 33 0 0.00 18 4 18.18 TAF1 0 genome.wustl.edu 37 X 70586174 70586174 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 70586174 70586174 G A SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.10 p.G4S 0.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 tier1 - - 92 0 0.00 112 30 21.13 TAF7 0 genome.wustl.edu 37 5 140698938 140698938 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140698938 140698938 T G SNP TAF7 ENST00000313368 human ensembl 74_37 -1 known missense c.674 p.D225A 1.000 NULL pfam_TAFII55_prot_cons_reg - no_errors TAF7 HGNC ENSG00000178913 tier1 - - 135 0 0.00 114 28 19.72 TAGAP 0 genome.wustl.edu 37 6 159457405 159457405 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 159457405 159457405 G A SNP TAGAP ENST00000367066 human ensembl 74_37 -1 known silent c.1650 p.A550 0.269 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors TAGAP HGNC ENSG00000164691 tier1 - - 107 0 0.00 115 31 21.23 TALDO1 0 genome.wustl.edu 37 11 764817 764817 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 764817 764817 G A SNP TALDO1 ENST00000319006 human ensembl 74_37 +1 known missense c.986 p.R329Q 0.007 tigrfam_Transaldolase_1 pfam_Transaldolase,tigrfam_Transaldolase_1 - no_errors TALDO1 HGNC ENSG00000177156 tier1 - - 153 0 0.00 120 31 20.53 TANC1 0 genome.wustl.edu 37 2 160028692 160028692 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 160028692 160028692 G T SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.1412 p.S471I 0.861 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 tier1 - - 67 0 0.00 68 14 17.07 TANC1 0 genome.wustl.edu 37 2 160087129 160087129 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 160087129 160087129 C T SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.5192 p.A1731V 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 tier1 - - 154 0 0.00 174 42 19.44 TANC2 0 genome.wustl.edu 37 17 61497692 61497692 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 61497692 61497692 G A SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.4349 p.R1450Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 tier1 - - 64 0 0.00 81 23 22.12 TANGO2 0 genome.wustl.edu 37 22 20024332 20024334 + In_Frame_Del DEL TCT TCT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 20024332 20024334 TCT - DEL TANGO2 ENST00000327374 human ensembl 74_37 +1 known in_frame_del c.11_13 p.F6in_frame_del 1.000:1.000:1.000 pfam_DUF833 pfam_DUF833 - no_errors TANGO2 HGNC ENSG00000183597 tier1 121 0 0.00 125 33 20.89 TARS 0 genome.wustl.edu 37 5 33448677 33448677 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 33448677 33448677 C T SNP TARS ENST00000265112 human ensembl 74_37 +1 known missense c.169 p.R57C 1.000 NULL pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC ENSG00000113407 tier1 - - 76 0 0.00 77 18 18.95 TAS2R14 0 genome.wustl.edu 37 12 11091592 11091592 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 11091592 11091592 A - DEL TAS2R14 ENST00000537503 human ensembl 74_37 -1 known frame_shift_del c.215 p.F72fs 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R14 HGNC ENSG00000212127 tier1 27 0 0.00 37 7 15.91 TAS2R8 0 genome.wustl.edu 37 12 10958846 10958846 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 10958846 10958846 A - DEL TAS2R8 ENST00000240615 human ensembl 74_37 -1 known frame_shift_del c.734 p.F245fs 0.001 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R8 HGNC ENSG00000121314 tier1 38 0 0.00 34 10 22.73 TBC1D23 0 genome.wustl.edu 37 3 100020915 100020915 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 100020915 100020915 T C SNP TBC1D23 ENST00000394144 human ensembl 74_37 +1 known missense c.1097 p.L366P 0.997 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 tier1 - - 22 0 0.00 43 11 20.37 TBC1D23 0 genome.wustl.edu 37 3 100039736 100039737 + Frame_Shift_Del DEL AA AA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 100039736 100039737 AA - DEL TBC1D23 ENST00000394144 human ensembl 74_37 +1 known frame_shift_del c.1939_1940 p.K649fs 1.000:1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 tier1 50 0 0.00 48 17 26.15 TBC1D8B 0 genome.wustl.edu 37 X 106069300 106069300 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 106069300 106069300 T - DEL TBC1D8B ENST00000357242 human ensembl 74_37 +1 known frame_shift_del c.868 p.F291fs 0.995 pfam_GRAM,smart_GRAM pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 tier1 95 0 0.00 110 33 23.08 TBR1 0 genome.wustl.edu 37 2 162273011 162273011 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 162273011 162273011 C T SNP TBR1 ENST00000389554 human ensembl 74_37 +1 known silent c.90 p.S30 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 tier1 - - 65 0 0.00 64 16 20.00 TBX22 0 genome.wustl.edu 37 X 79277880 79277880 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 79277880 79277880 A - DEL TBX22 ENST00000373294 human ensembl 74_37 +1 known frame_shift_del c.112 p.K39fs 0.044 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 tier1 31 0 0.00 30 8 21.05 TBXA2R 0 genome.wustl.edu 37 19 3600153 3600153 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 3600153 3600153 C T SNP TBXA2R ENST00000411851 human ensembl 74_37 -1 known silent c.480 p.A160 0.854 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC ENSG00000006638 tier1 - - 53 0 0.00 32 8 20.00 TCAP 0 genome.wustl.edu 37 17 37822279 37822279 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 37822279 37822279 C - DEL TCAP ENST00000309889 human ensembl 74_37 +1 known frame_shift_del c.421 p.P142fs 1.000 pfam_Telethonin pfam_Telethonin - no_errors TCAP HGNC ENSG00000173991 tier1 103 0 0.00 129 31 19.38 TCERG1 0 genome.wustl.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 145886723 145886723 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863 p.K957fs 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 tier1 92 0 0.00 101 20 16.53 TCF20 0 genome.wustl.edu 37 22 42564716 42564716 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 42564716 42564716 G - DEL TCF20 ENST00000359486 human ensembl 74_37 -1 known frame_shift_del c.5826 p.L1943fs 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 tier1 18 0 0.00 15 8 34.78 TCF7 0 genome.wustl.edu 37 5 133478778 133478778 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 133478778 133478778 C T SNP TCF7 ENST00000321584 human ensembl 74_37 +1 known missense c.1013 p.A338V 1.000 smart_HMG_box_dom pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7 HGNC ENSG00000081059 16 0 0.00 11 3 21.43 TCHP 0 genome.wustl.edu 37 12 110350854 110350854 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 110350854 110350854 G A SNP TCHP ENST00000312777 human ensembl 74_37 +1 known missense c.1111 p.A371T 0.990 NULL NULL - no_errors TCHP HGNC ENSG00000139437 tier1 rs147052884 - 79 0 0.00 74 12 13.95 TCP11 0 genome.wustl.edu 37 6 35088325 35088325 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 35088325 35088325 C T SNP TCP11 ENST00000311875 human ensembl 74_37 -1 known missense c.853 p.A285T 0.000 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11 HGNC ENSG00000124678 tier1 - - 74 0 0.00 72 27 27.27 TDG 0 genome.wustl.edu 37 12 104376700 104376700 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 104376700 104376700 A C SNP TDG ENST00000392872 human ensembl 74_37 +1 known missense c.602 p.K201T 1.000 pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Thymine-DNA_glycosylase pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Thymine-DNA_glycosylase - no_errors TDG HGNC ENSG00000139372 tier1 rs61937630 - 95 0 0.00 127 9 6.57 TEAD3 0 genome.wustl.edu 37 6 35443790 35443790 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 35443790 35443790 C T SNP TEAD3 ENST00000402886 human ensembl 74_37 -1 novel missense c.626 p.R209H 0.999 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,pirsf_TEF - no_errors TEAD3 HGNC ENSG00000007866 tier1 - - 55 0 0.00 37 6 13.95 TEK 0 genome.wustl.edu 37 9 27190596 27190596 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 27190596 27190596 G T SNP TEK ENST00000380036 human ensembl 74_37 +1 known missense c.1397 p.S466I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 tier1 - - 208 0 0.00 179 46 20.44 TEKT5 0 genome.wustl.edu 37 16 10788424 10788424 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 10788424 10788424 G A SNP TEKT5 ENST00000283025 human ensembl 74_37 -1 known missense c.307 p.R103C 0.001 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT5 HGNC ENSG00000153060 tier1 rs143356838 - 118 0 0.00 166 9 5.14 TENM3 0 genome.wustl.edu 37 4 183714673 183714673 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 183714673 183714673 C T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.6848 p.A2283V 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 tier1 - - 31 0 0.00 33 10 23.26 TEPP 0 genome.wustl.edu 37 16 58019819 58019819 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 58019819 58019819 T C SNP TEPP ENST00000290871 human ensembl 74_37 +1 known silent c.840 p.T280 0.012 NULL NULL - no_errors TEPP HGNC ENSG00000159648 tier1 - - 54 0 0.00 44 7 13.73 TERT 0 genome.wustl.edu 37 5 1294686 1294686 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 1294686 1294686 G A SNP TERT ENST00000310581 human ensembl 74_37 -1 known silent c.315 p.D105 0.111 NULL pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 tier1 - - 21 0 0.00 19 5 20.83 TESK2 0 genome.wustl.edu 37 1 45810871 45810871 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 45810871 45810871 G A SNP TESK2 ENST00000372086 human ensembl 74_37 -1 known missense c.1357 p.R453W 0.996 NULL 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 TESK2 HGNC ENSG00000070759 tier1 - - 122 0 0.00 135 38 21.97 TEX11 0 genome.wustl.edu 37 X 70127618 70127618 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 70127618 70127618 A - DEL TEX11 ENST00000374333 human ensembl 74_37 -1 known frame_shift_del c.22 p.S8fs 0.008 NULL pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC ENSG00000120498 tier1 53 0 0.00 67 16 19.28 TEX15 0 genome.wustl.edu 37 8 30701328 30701328 + Nonsense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 30701328 30701328 C A SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known nonsense c.5206 p.G1736* 0.980 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 tier1 - - 61 0 0.00 86 8 8.51 TFAM 0 genome.wustl.edu 37 10 60148570 60148571 + Frame_Shift_Del DEL AA AA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 60148570 60148571 AA - DEL TFAM ENST00000487519 human ensembl 74_37 +1 known frame_shift_del c.432_433 p.K147fs 0.006:0.936 superfamily_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TFAM HGNC ENSG00000108064 tier1 48 0 0.00 66 16 19.51 TFAP2A 0 genome.wustl.edu 37 6 10415184 10415184 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 10415184 10415184 T G SNP TFAP2A ENST00000379604 human ensembl 74_37 -1 known missense c.35 p.E12A 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC ENSG00000137203 tier1 - - 121 0 0.00 102 27 20.93 TFCP2L1 0 genome.wustl.edu 37 2 121992863 121992863 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 121992863 121992863 C T SNP TFCP2L1 ENST00000263707 human ensembl 74_37 -1 known missense c.1028 p.R343Q 0.999 superfamily_SAM/pointed pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2L1 HGNC ENSG00000115112 tier1 - - 73 0 0.00 90 21 18.92 TFEC 0 genome.wustl.edu 37 7 115594657 115594657 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 115594657 115594657 T 0 DEL TFEC ENST00000265440 human ensembl 74_37 -1 known frame_shift_del c.422 p.K141fs 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFEC HGNC ENSG00000105967 54 0 0.00 69 12 14.81 TFPI2 0 genome.wustl.edu 37 7 93519534 93519534 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 93519534 93519534 G A SNP TFPI2 ENST00000222543 human ensembl 74_37 -1 known silent c.186 p.R62 0.000 pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI2 HGNC ENSG00000105825 tier1 - - 80 0 0.00 62 29 31.87 TG 0 genome.wustl.edu 37 8 133925296 133925296 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 133925296 133925296 A C SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.4164 p.R1388S 0.091 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 31 0 0.00 60 7 10.45 TGFBR2 0 genome.wustl.edu 37 3 30691872 30691873 + Frame_Shift_Del DEL AA AA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 30691872 30691873 AA - DEL TGFBR2 ENST00000359013 human ensembl 74_37 +1 known frame_shift_del c.449_450 p.K153fs 1.000:0.990 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,prints_TGFB_receptor pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 tier1 89 0 0.00 79 48 37.80 TGM1 0 genome.wustl.edu 37 14 24718708 24718708 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 24718708 24718708 C T SNP TGM1 ENST00000206765 human ensembl 74_37 -1 known silent c.2265 p.S755 0.356 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 tier1 - - 53 0 0.00 69 9 11.54 TH 0 genome.wustl.edu 37 11 2187733 2187733 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 2187733 2187733 G T SNP TH ENST00000381178 human ensembl 74_37 -1 known missense c.1117 p.R373S 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Tyr_3_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase - no_errors TH HGNC ENSG00000180176 tier1 - - 25 0 0.00 24 8 25.00 THAP5 0 genome.wustl.edu 37 7 108204998 108204998 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 108204998 108204998 A - DEL THAP5 ENST00000415914 human ensembl 74_37 -1 known frame_shift_del c.825 p.F275fs 0.999 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP5 HGNC ENSG00000177683 tier1 79 0 0.00 78 18 18.75 THAP9 0 genome.wustl.edu 37 4 83839022 83839023 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 83839022 83839023 - T INS THAP9 ENST00000302236 human ensembl 74_37 +1 known frame_shift_ins c.1657_1658 p.V555fs 0.982:0.978 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 tier1 55 0 0.00 60 16 21.05 THBD 0 genome.wustl.edu 37 20 23028958 23028958 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 23028958 23028958 G A SNP THBD ENST00000377103 human ensembl 74_37 -1 known missense c.1184 p.A395V 0.000 pirsf_CD93/CD141,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Thrombomodulin pirsf_CD93/CD141,pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin,pfscan_C-type_lectin - no_errors THBD HGNC ENSG00000178726 tier1 - - 110 0 0.00 133 24 15.29 THEMIS 0 genome.wustl.edu 37 6 128040862 128040862 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 128040862 128040862 C A SNP THEMIS ENST00000543064 human ensembl 74_37 -1 known missense c.1982 p.R661M 0.024 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 tier1 - - 78 0 0.00 71 14 16.47 THSD7B 0 genome.wustl.edu 37 2 137852593 137852593 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 137852593 137852593 C T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known silent c.1101 p.N367 0.007 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 55 0 0.00 54 8 12.90 TIAM1 0 genome.wustl.edu 37 21 32525063 32525063 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 32525063 32525063 C A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.3257 p.G1086V 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 tier1 - - 38 0 0.00 56 7 11.11 TICAM1 0 genome.wustl.edu 37 19 4817289 4817291 + In_Frame_Del DEL AGG AGG - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 4817289 4817291 AGG - DEL TICAM1 ENST00000248244 human ensembl 74_37 -1 known in_frame_del c.1101_1099 p.P367in_frame_del 0.000:0.000:0.000 pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 tier1 76 0 0.00 104 13 11.11 TIE1 0 genome.wustl.edu 37 1 43778241 43778241 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 43778241 43778241 G A SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known silent c.1896 p.S632 0.854 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 tier1 - - 74 0 0.00 64 26 28.89 TIPRL 0 genome.wustl.edu 37 1 168169164 168169164 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 168169164 168169164 G A SNP TIPRL ENST00000367833 human ensembl 74_37 +1 known silent c.699 p.T233 1.000 NULL pfam_TIP41-like - no_errors TIPRL HGNC ENSG00000143155 tier1 - - 47 0 0.00 67 20 22.99 TK2 0 genome.wustl.edu 37 16 66562958 66562958 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 66562958 66562958 G A SNP TK2 ENST00000299697 human ensembl 74_37 -1 known missense c.514 p.R172W 0.997 pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase - no_errors TK2 HGNC ENSG00000166548 tier1 - - 73 0 0.00 69 24 25.81 TLE3 0 genome.wustl.edu 37 15 70351123 70351123 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 70351123 70351123 T C SNP TLE3 ENST00000558939 human ensembl 74_37 -1 known missense c.797 p.H266R 1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE3 HGNC ENSG00000140332 tier1 - - 25 0 0.00 17 11 37.93 TLL1 0 genome.wustl.edu 37 4 166964431 166964431 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 166964431 166964431 T C SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.1384 p.C462R 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 tier1 - - 127 0 0.00 138 46 25.00 TLL1 0 genome.wustl.edu 37 4 166976266 166976266 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 166976266 166976266 A C SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.1563 p.E521D 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 tier1 - - 76 0 0.00 94 26 21.67 TLL2 0 genome.wustl.edu 37 10 98127887 98127887 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 98127887 98127887 G A SNP TLL2 ENST00000357947 human ensembl 74_37 -1 known silent c.3006 p.Y1002 1.000 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors TLL2 HGNC ENSG00000095587 tier1 - - 56 0 0.00 57 14 19.72 TLN2 0 genome.wustl.edu 37 15 63017304 63017304 + Splice_Site SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 63017304 63017304 G A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known splice_site c.3255+1 e24+1 1.000 - - - no_errors TLN2 HGNC ENSG00000171914 tier1 - - 62 0 0.00 68 16 19.05 TM2D2 0 genome.wustl.edu 37 8 38853953 38853953 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 38853953 38853953 C T SNP TM2D2 ENST00000456397 human ensembl 74_37 -1 known silent c.6 p.V2 1.000 NULL pfam_TM2 - no_errors TM2D2 HGNC ENSG00000169490 tier1 - - 67 0 0.00 107 23 17.69 TM9SF3 0 genome.wustl.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 98336475 98336475 T - DEL TM9SF3 ENST00000371142 human ensembl 74_37 -1 known frame_shift_del c.214 p.S72fs 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 tier1 90 0 0.00 110 25 18.52 TMA16 0 genome.wustl.edu 37 4 164428219 164428219 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 164428219 164428219 A - DEL TMA16 ENST00000358572 human ensembl 74_37 +1 known frame_shift_del c.38 p.V16fs 1.000 pfam_Tma16 pfam_Tma16 - no_errors TMA16 HGNC ENSG00000198498 tier1 15 0 0.00 11 5 31.25 TMC3 0 genome.wustl.edu 37 15 81624809 81624809 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 81624809 81624809 C A SNP TMC3 ENST00000359440 human ensembl 74_37 -1 known missense c.3254 p.G1085V 0.020 NULL pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 tier1 - - 24 0 0.00 20 6 23.08 TMEM119 0 genome.wustl.edu 37 12 108985651 108985651 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 108985651 108985651 C T SNP TMEM119 ENST00000392806 human ensembl 74_37 -1 known missense c.509 p.R170Q 0.744 NULL NULL - no_errors TMEM119 HGNC ENSG00000183160 tier1 rs201913296 - 71 0 0.00 72 19 20.88 TMEM121 0 genome.wustl.edu 37 14 105995472 105995472 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 105995472 105995472 C T SNP TMEM121 ENST00000392519 human ensembl 74_37 +1 known missense c.301 p.R101W 0.975 NULL NULL - no_errors TMEM121 HGNC ENSG00000184986 tier1 - - 27 0 0.00 25 7 21.88 TMEM171 0 genome.wustl.edu 37 5 72419520 72419520 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 72419520 72419520 G A SNP TMEM171 ENST00000454765 human ensembl 74_37 +1 known missense c.320 p.R107H 1.000 NULL NULL - no_errors TMEM171 HGNC ENSG00000157111 tier1 - - 93 0 0.00 79 18 18.56 TMEM183A 0 genome.wustl.edu 37 1 202985149 202985149 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 202985149 202985149 C T SNP TMEM183A ENST00000367242 human ensembl 74_37 +1 known missense c.589 p.R197C 1.000 NULL superfamily_F-box_dom - no_errors TMEM183A HGNC ENSG00000163444 tier1 - - 161 0 0.00 123 38 23.60 TMEM209 0 genome.wustl.edu 37 7 129815400 129815400 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 129815400 129815400 G A SNP TMEM209 ENST00000397622 human ensembl 74_37 -1 known silent c.1296 p.G432 0.126 pfam_Cytochrome_B561-rel pfam_Cytochrome_B561-rel - no_errors TMEM209 HGNC ENSG00000146842 tier1 - - 33 0 0.00 20 7 25.93 TMEM217 0 genome.wustl.edu 37 6 37186304 37186304 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 37186304 37186304 C T SNP TMEM217 ENST00000336655 human ensembl 74_37 -1 known missense c.503 p.R168Q 0.123 NULL NULL - no_errors TMEM217 HGNC ENSG00000172738 tier1 - - 144 0 0.00 162 40 19.70 TMEM60 0 genome.wustl.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 77423460 77423460 T - DEL TMEM60 ENST00000257663 human ensembl 74_37 -1 known frame_shift_del c.231 p.A78fs 0.998 NULL pfam_TM_Fragile-X-F-assoc - no_errors TMEM60 HGNC ENSG00000135211 tier1 128 0 0.00 129 39 23.21 TMEM64 0 genome.wustl.edu 37 8 91643787 91643788 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 91643787 91643788 0 A INS TMEM64 ENST00000458549 human ensembl 74_37 -1 known frame_shift_ins c.944_943 p.C315fs 1.000:1.000 NULL pfam_SNARE_assoc - no_errors TMEM64 HGNC ENSG00000180694 82 0 0.00 178 16 8.25 TMEM88 0 genome.wustl.edu 37 17 7758925 7758925 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 7758925 7758925 C T SNP TMEM88 ENST00000301599 human ensembl 74_37 +1 known missense c.373 p.P125S 1.000 NULL NULL - no_errors TMEM88 HGNC ENSG00000167874 tier1 - - 92 0 0.00 88 20 18.52 TMEM8C 0 genome.wustl.edu 37 9 136385357 136385357 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 136385357 136385357 G A SNP TMEM8C ENST00000339996 human ensembl 74_37 -1 known silent c.189 p.H63 0.272 pfam_DUF3522 pfam_DUF3522 - no_errors TMEM8C HGNC ENSG00000187616 tier1 - - 91 0 0.00 88 15 14.56 TMEM91 0 genome.wustl.edu 37 19 41889793 41889793 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 41889793 41889793 C A SNP TMEM91 ENST00000413014 human ensembl 74_37 +1 known missense c.386 p.P129H 0.908 NULL pfam_CD225/Dispanin_fam - no_errors TMEM91 HGNC ENSG00000142046 tier1 - - 49 0 0.00 27 20 42.55 TNFAIP8L1 0 genome.wustl.edu 37 19 4651947 4651947 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 4651947 4651947 G A SNP TNFAIP8L1 ENST00000327473 human ensembl 74_37 +1 known silent c.66 p.A22 0.001 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8L1 HGNC ENSG00000185361 tier1 - - 70 0 0.00 52 11 17.46 TNFRSF4 0 genome.wustl.edu 37 1 1147102 1147103 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 1147102 1147103 - G INS TNFRSF4 ENST00000379236 human ensembl 74_37 -1 known frame_shift_ins c.745_744 p.D248fs 0.000:0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_4 - no_errors TNFRSF4 HGNC ENSG00000186827 tier1 14 0 0.00 16 5 23.81 TNK2 0 genome.wustl.edu 37 3 195595229 195595229 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 195595229 195595229 G A SNP TNK2 ENST00000381916 human ensembl 74_37 -1 known missense c.2129 p.P710L 0.994 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 tier1 - - 141 0 0.00 90 44 32.12 TNN 0 genome.wustl.edu 37 1 175046698 175046698 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 175046698 175046698 C T SNP TNN ENST00000239462 human ensembl 74_37 +1 known silent c.144 p.I48 0.266 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 tier1 rs147634808 - 53 0 0.00 46 19 29.23 TNN 0 genome.wustl.edu 37 1 175049362 175049362 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 175049362 175049362 A C SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.848 p.E283A 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 tier1 - - 46 0 0.00 52 24 31.58 TNNT3 0 genome.wustl.edu 37 11 1955842 1955842 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 1955842 1955842 C T SNP TNNT3 ENST00000397301 human ensembl 74_37 +1 known missense c.580 p.R194C 1.000 pfam_Troponin pfam_Troponin - no_errors TNNT3 HGNC ENSG00000130595 tier1 - - 23 0 0.00 14 7 33.33 TNS1 0 genome.wustl.edu 37 2 218762676 218762676 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 218762676 218762676 G A SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.13 p.R5W 0.973 pfscan_Phosphatase_tensin-typ pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 tier1 - - 47 0 0.00 40 9 18.37 TNS3 0 genome.wustl.edu 37 7 47408333 47408333 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 47408333 47408333 G A SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.1910 p.T637I 0.912 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 tier1 - - 131 0 0.00 111 33 22.92 TNS3 0 genome.wustl.edu 37 7 47408746 47408746 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 47408746 47408746 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known silent c.1497 p.S499 0.001 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 tier1 - - 50 0 0.00 40 8 16.67 TNXB 0 genome.wustl.edu 37 6 32026100 32026100 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 32026100 32026100 G - DEL TNXB ENST00000375247 human ensembl 74_37 -1 known frame_shift_del c.7560 p.E2521fs 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 51 0 0.00 52 11 17.46 TNXB 0 genome.wustl.edu 37 6 32039875 32039875 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 32039875 32039875 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.4882 p.R1628W 0.388 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 37 0 0.00 30 10 25.00 TONSL 0 genome.wustl.edu 37 8 145659021 145659021 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 145659021 145659021 C T SNP TONSL ENST00000409379 human ensembl 74_37 -1 known missense c.3509 p.G1170D 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 tier1 - - 132 0 0.00 186 27 12.68 TOP1MT 0 genome.wustl.edu 37 8 144403514 144403514 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 144403514 144403514 C T SNP TOP1MT ENST00000329245 human ensembl 74_37 -1 known missense c.1003 p.A335T 0.977 pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1MT HGNC ENSG00000184428 tier1 - - 130 0 0.00 162 45 21.74 TOP3B 0 genome.wustl.edu 37 22 22317214 22317214 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 22317214 22317214 G A SNP TOP3B ENST00000357179 human ensembl 74_37 -1 known missense c.1256 p.T419M 1.000 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd,prints_Topo_IA pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 tier1 - - 77 0 0.00 59 29 32.95 TOX 0 genome.wustl.edu 37 8 59750732 59750732 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 59750732 59750732 C T SNP TOX ENST00000361421 human ensembl 74_37 -1 known missense c.832 p.A278T 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX HGNC ENSG00000198846 tier1 - - 119 0 0.00 192 29 13.12 TOX3 0 genome.wustl.edu 37 16 52479908 52479908 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 52479908 52479908 G A SNP TOX3 ENST00000219746 human ensembl 74_37 -1 known nonsense c.904 p.Q302* 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX3 HGNC ENSG00000103460 tier1 - - 40 0 0.00 45 7 13.46 TOX4 0 genome.wustl.edu 37 14 21961062 21961062 + Silent SNP T T A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 21961062 21961062 T A SNP TOX4 ENST00000262709 human ensembl 74_37 +1 known silent c.1287 p.A429 0.939 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX4 HGNC ENSG00000092203 tier1 - - 271 0 0.00 282 62 18.02 TPCN1 0 genome.wustl.edu 37 12 113728027 113728027 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 113728027 113728027 G A SNP TPCN1 ENST00000541517 human ensembl 74_37 +1 known missense c.2107 p.D703N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TPCN1 HGNC ENSG00000186815 tier1 - - 22 0 0.00 8 4 33.33 TPM1 0 genome.wustl.edu 37 15 63353438 63353438 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 63353438 63353438 A C SNP TPM1 ENST00000288398 human ensembl 74_37 +1 known missense c.605 p.Q202P 1.000 pfam_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM1 HGNC ENSG00000140416 tier1 - - 76 0 0.00 59 24 28.92 TPRN 0 genome.wustl.edu 37 9 140087030 140087030 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 140087030 140087030 C T SNP TPRN ENST00000409012 human ensembl 74_37 -1 known silent c.1839 p.E613 0.004 NULL NULL - no_errors TPRN HGNC ENSG00000176058 38 0 0.00 38 3 7.32 TRABD 0 genome.wustl.edu 37 22 50635950 50635950 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 50635950 50635950 G A SNP TRABD ENST00000303434 human ensembl 74_37 +1 known missense c.604 p.A202T 0.997 pfam_Pheromone_shutdown_TraB pfam_Pheromone_shutdown_TraB - no_errors TRABD HGNC ENSG00000170638 tier1 - - 120 0 0.00 101 40 28.37 TRAM1L1 0 genome.wustl.edu 37 4 118005517 118005517 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 118005517 118005517 T - DEL TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known frame_shift_del c.1033 p.R345fs 1.000 pirsf_Translocation_assoc_membrane pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 tier1 122 0 0.00 159 41 20.50 TRAM1L1 0 genome.wustl.edu 37 4 118005713 118005713 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 118005713 118005713 C T SNP TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known silent c.837 p.S279 0.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 tier1 - - 54 0 0.00 71 10 12.35 TRAM1L1 0 genome.wustl.edu 37 4 118006514 118006514 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 118006514 118006514 G - DEL TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known frame_shift_del c.36 p.V13fs 0.971 pirsf_Translocation_assoc_membrane pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 tier1 104 0 0.00 117 18 13.33 TRAPPC8 0 genome.wustl.edu 37 18 29453418 29453418 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 29453418 29453418 A - DEL TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known frame_shift_del c.2037 p.F679fs 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 tier1 34 0 0.00 38 15 28.30 TRAPPC9 0 genome.wustl.edu 37 8 140922363 140922363 + RNA SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 140922363 140922363 G T SNP TRAPPC9 ENST00000522504 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors TRAPPC9 HGNC ENSG00000167632 tier1 - - 116 0 0.00 155 21 11.93 TRAPPC9 0 genome.wustl.edu 37 8 141381186 141381186 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 141381186 141381186 C T SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known missense c.1522 p.V508M 0.998 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 tier1 - - 71 0 0.00 112 22 16.42 TREM2 0 genome.wustl.edu 37 6 41127579 41127579 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 41127579 41127579 C T SNP TREM2 ENST00000373113 human ensembl 74_37 -1 known missense c.433 p.G145R 0.218 NULL pfam_Ig_V-set - no_errors TREM2 HGNC ENSG00000095970 tier1 - - 48 0 0.00 44 8 15.38 TRIM17 0 genome.wustl.edu 37 1 228596779 228596779 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 228596779 228596779 C - DEL TRIM17 ENST00000456946 human ensembl 74_37 -1 known frame_shift_del c.977 p.G326fs 0.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM17 HGNC ENSG00000162931 tier1 42 0 0.00 36 10 21.74 TRIM25 0 genome.wustl.edu 37 17 54990912 54990912 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 54990912 54990912 C T SNP TRIM25 ENST00000316881 human ensembl 74_37 -1 known silent c.438 p.Q146 0.065 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM25 HGNC ENSG00000121060 tier1 - - 58 0 0.00 71 10 12.35 TRIM33 0 genome.wustl.edu 37 1 114940230 114940232 + RNA DEL TTT TTT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 114940230 114940232 TTT - DEL TRIM33 ENST00000478032 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors TRIM33 HGNC ENSG00000197323 tier1 26 0 0.00 14 17 54.84 TRIM37 0 genome.wustl.edu 37 17 57141756 57141756 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 57141756 57141756 G A SNP TRIM37 ENST00000262294 human ensembl 74_37 -1 known missense c.820 p.P274S 1.000 NULL pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 tier1 - - 21 0 0.00 9 6 40.00 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 22 0 0.00 44 8 15.38 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423 p.M144fs 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 tier1 53 0 0.00 57 8 12.31 TRIM54 0 genome.wustl.edu 37 2 27529183 27529183 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 27529183 27529183 G A SNP TRIM54 ENST00000296098 human ensembl 74_37 +1 known silent c.1095 p.L365 0.969 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM54 HGNC ENSG00000138100 tier1 rs142646235 - 79 0 0.00 85 7 7.61 TRIM9 0 genome.wustl.edu 37 14 51464799 51464799 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 51464799 51464799 G A SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known silent c.1560 p.Y520 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 tier1 - - 33 0 0.00 41 9 17.65 TRIO 0 genome.wustl.edu 37 5 14280525 14280525 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 14280525 14280525 C A SNP TRIO ENST00000344204 human ensembl 74_37 +1 known silent c.327 p.S109 0.880 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 tier1 - - 94 0 0.00 72 16 18.18 TRIO 0 genome.wustl.edu 37 5 14381308 14381308 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 14381308 14381308 C T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known nonsense c.3517 p.Q1173* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 tier1 - - 81 0 0.00 90 17 15.89 TRIO 0 genome.wustl.edu 37 5 14487781 14487781 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 14487781 14487781 C - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.7044 p.V2351fs 1.000 superfamily_Capsid/spike_ssDNA_virus pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 tier1 26 0 0.00 32 6 15.79 TRIO 0 genome.wustl.edu 37 5 14488156 14488156 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 14488156 14488156 C - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.7419 p.S2476fs 0.021 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 tier1 21 0 0.00 20 6 23.08 TRIOBP 0 genome.wustl.edu 37 22 38121820 38121820 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 38121820 38121820 C A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.3257 p.P1086H 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 tier1 - - 183 0 0.00 160 54 25.23 TRIOBP 0 genome.wustl.edu 37 22 38130884 38130885 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 38130884 38130885 - C INS TRIOBP ENST00000406386 human ensembl 74_37 +1 known frame_shift_ins c.4541_4542 p.E1517fs 0.000:0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 tier1 107 0 0.00 80 10 11.11 TRIP10 0 genome.wustl.edu 37 19 6751164 6751164 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 6751164 6751164 G A SNP TRIP10 ENST00000313244 human ensembl 74_37 +1 known missense c.1748 p.R583Q 1.000 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 tier1 - - 161 0 0.00 147 39 20.86 TROAP 0 genome.wustl.edu 37 12 49719342 49719342 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 49719342 49719342 A G SNP TROAP ENST00000257909 human ensembl 74_37 +1 known silent c.396 p.S132 1.000 NULL NULL - no_errors TROAP HGNC ENSG00000135451 tier1 - - 60 0 0.00 72 8 10.00 TRPC3 0 genome.wustl.edu 37 4 122831397 122831397 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 122831397 122831397 C T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known silent c.1704 p.T568 0.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 tier1 rs201887788 - 80 0 0.00 80 19 19.19 TRPC3 0 genome.wustl.edu 37 4 122853851 122853851 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 122853851 122853851 C T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known missense c.562 p.V188M 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 tier1 - - 27 0 0.00 40 9 18.37 TRPC6 0 genome.wustl.edu 37 11 101362287 101362287 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 101362287 101362287 T - DEL TRPC6 ENST00000344327 human ensembl 74_37 -1 known frame_shift_del c.1128 p.K376fs 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 tier1 112 0 0.00 156 48 23.53 TRPM4 0 genome.wustl.edu 37 19 49686364 49686364 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 49686364 49686364 G A SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known silent c.1638 p.S546 0.000 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 tier1 - - 55 0 0.00 44 14 24.14 TSPAN13 0 genome.wustl.edu 37 7 16823085 16823086 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 16823085 16823086 - C INS TSPAN13 ENST00000262067 human ensembl 74_37 +1 known frame_shift_ins c.584_585 p.R197fs 1.000:0.922 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN13 HGNC ENSG00000106537 tier1 178 0 0.00 197 42 17.57 TSPAN17 0 genome.wustl.edu 37 5 176078840 176078840 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 176078840 176078840 C T SNP TSPAN17 ENST00000310032 human ensembl 74_37 +1 known missense c.224 p.S75L 0.808 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN17 HGNC ENSG00000048140 tier1 - - 127 0 0.00 124 36 22.50 TSPAN8 0 genome.wustl.edu 37 12 71531768 71531769 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 71531768 71531769 - T INS TSPAN8 ENST00000247829 human ensembl 74_37 -1 known frame_shift_ins c.409_408 p.Q136fs 0.000:0.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN8 HGNC ENSG00000127324 tier1 83 0 0.00 104 17 14.05 TSPEAR 0 genome.wustl.edu 37 21 45987773 45987773 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 45987773 45987773 G - DEL TSPEAR ENST00000323084 human ensembl 74_37 -1 known frame_shift_del c.199 p.R67fs 0.978 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 tier1 69 0 0.00 103 13 11.21 TSPYL5 0 genome.wustl.edu 37 8 98288830 98288830 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 98288830 98288830 G T SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known missense c.1243 p.Q415K 0.001 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 tier1 - - 192 0 0.00 346 52 13.07 TSPYL5 0 genome.wustl.edu 37 8 98289556 98289556 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 98289556 98289556 C T SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known missense c.517 p.A173T 0.000 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 tier1 - - 200 0 0.00 327 57 14.84 TSPYL5 0 genome.wustl.edu 37 8 98289664 98289664 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 98289664 98289664 G 0 DEL TSPYL5 ENST00000322128 human ensembl 74_37 -1 known frame_shift_del c.409 p.R137fs 0.768 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 68 0 0.00 97 10 9.35 TSSK2 0 genome.wustl.edu 37 22 19119015 19119015 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 19119015 19119015 A G SNP TSSK2 ENST00000399635 human ensembl 74_37 +1 known missense c.103 p.K35E 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK2 HGNC ENSG00000206203 tier1 - - 79 0 0.00 65 16 19.75 TSSK3 0 genome.wustl.edu 37 1 32829736 32829736 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 32829736 32829736 C A SNP TSSK3 ENST00000373534 human ensembl 74_37 +1 known missense c.686 p.P229H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TSSK3 HGNC ENSG00000162526 tier1 - - 149 0 0.00 147 37 20.11 TSSK6 0 genome.wustl.edu 37 19 19625931 19625931 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 19625931 19625931 C T SNP TSSK6 ENST00000360913 human ensembl 74_37 -1 known silent c.306 p.Q102 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TSSK6 HGNC ENSG00000178093 tier1 - - 108 0 0.00 88 24 21.43 TTC14 0 genome.wustl.edu 37 3 180321044 180321044 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 180321044 180321044 G T SNP TTC14 ENST00000296015 human ensembl 74_37 +1 known missense c.419 p.G140V 1.000 superfamily_NA-bd_OB-fold,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 tier1 - - 110 0 0.00 116 17 12.78 TTK 0 genome.wustl.edu 37 6 80751897 80751897 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 80751897 80751897 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2552 p.R854fs 0.102 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 tier1 42 0 0.00 46 12 20.69 TTLL2 0 genome.wustl.edu 37 6 167754367 167754367 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 167754367 167754367 T - DEL TTLL2 ENST00000239587 human ensembl 74_37 +1 known frame_shift_del c.979 p.S329fs 0.994 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL2 HGNC ENSG00000120440 tier1 189 0 0.00 185 30 13.95 TTLL5 0 genome.wustl.edu 37 14 76135819 76135819 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 76135819 76135819 T C SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known silent c.135 p.H45 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 tier1 - - 101 0 0.00 115 32 21.77 TTLL5 0 genome.wustl.edu 37 14 76243055 76243057 + RNA DEL TTG TTG - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TTG TTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 76243055 76243057 TTG - DEL TTLL5 ENST00000555422 human ensembl 74_37 +1 known rna NULL NULL 0.348:0.290:0.032 - - - no_errors TTLL5 HGNC ENSG00000119685 tier1 38 0 0.00 44 10 18.52 TTN 0 genome.wustl.edu 37 2 179455557 179455557 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 179455557 179455557 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.53191 p.G17731S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,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 - - 79 0 0.00 87 21 19.44 TTN 0 genome.wustl.edu 37 2 179517034 179517034 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 179517034 179517034 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.31866 p.V10622 0.000 superfamily_Calpain_domain_III,superfamily_RNaseH-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 - - 336 0 0.00 400 25 5.88 TTN 0 genome.wustl.edu 37 2 179611301 179611301 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 179611301 179611301 C T SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.15826 p.E5276K 0.042 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 38 0 0.00 47 19 28.79 TTN 0 genome.wustl.edu 37 2 179650443 179650443 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 179650443 179650443 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.2397 p.T799 0.009 superfamily_RNaseH-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 - - 67 0 0.00 67 8 10.67 TTN-AS1 0 genome.wustl.edu 37 2 179392052 179392052 + RNA DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 179392052 179392052 A - DEL TTN-AS1 ENST00000587576 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors TTN-AS1 HGNC ENSG00000237298 tier1 30 0 0.00 23 7 23.33 TUBB4A 0 genome.wustl.edu 37 19 6495673 6495673 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 6495673 6495673 C T SNP TUBB4A ENST00000264071 human ensembl 74_37 -1 known silent c.837 p.Q279 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB4A HGNC ENSG00000104833 tier1 - - 129 0 0.00 134 18 11.84 TUBG1 0 genome.wustl.edu 37 17 40766567 40766567 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 40766567 40766567 G A SNP TUBG1 ENST00000251413 human ensembl 74_37 +1 known silent c.1050 p.P350 0.990 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG1 HGNC ENSG00000131462 tier1 - - 88 0 0.00 89 12 11.88 TUBGCP6 0 genome.wustl.edu 37 22 50656199 50656199 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 50656199 50656199 C T SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.5426 p.R1809H 1.000 NULL pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 tier1 - - 59 0 0.00 41 5 10.87 TUBGCP6 0 genome.wustl.edu 37 22 50657735 50657735 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 50657735 50657735 G A SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.4466 p.T1489M 0.990 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 tier1 - - 30 0 0.00 25 7 21.88 TULP4 0 genome.wustl.edu 37 6 158870165 158870165 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 158870165 158870165 C T SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known silent c.681 p.S227 1.000 superfamily_WD40_repeat_dom pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 tier1 - - 113 0 0.00 78 22 22.00 TWISTNB 0 genome.wustl.edu 37 7 19738023 19738024 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 19738023 19738024 - T INS TWISTNB ENST00000222567 human ensembl 74_37 -1 known frame_shift_ins c.933_932 p.K312fs 1.000:1.000 NULL pfam_RNA_pol_Rpb7_N - no_errors TWISTNB HGNC ENSG00000105849 tier1 104 0 0.00 138 25 15.34 TXK 0 genome.wustl.edu 37 4 48082120 48082120 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 48082120 48082120 G A SNP TXK ENST00000264316 human ensembl 74_37 -1 known nonsense c.982 p.Q328* 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors TXK HGNC ENSG00000074966 tier1 - - 96 0 0.00 120 13 9.77 TXLNA 0 genome.wustl.edu 37 1 32655672 32655672 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 32655672 32655672 G A SNP TXLNA ENST00000373609 human ensembl 74_37 +1 known missense c.785 p.R262Q 1.000 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNA HGNC ENSG00000084652 tier1 - - 12 0 0.00 9 5 35.71 TYW3 0 genome.wustl.edu 37 1 75204466 75204466 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 75204466 75204466 G T SNP TYW3 ENST00000370867 human ensembl 74_37 +1 known missense c.348 p.Q116H 0.971 pfam_tRNA_yW-synthesising,superfamily_tRNA_yW-synthesising pfam_tRNA_yW-synthesising,superfamily_tRNA_yW-synthesising - no_errors TYW3 HGNC ENSG00000162623 tier1 - - 21 0 0.00 23 6 20.69 UBAP2L 0 genome.wustl.edu 37 1 154227293 154227295 + RNA DEL TTT TTT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 154227293 154227295 TTT - DEL UBAP2L ENST00000495676 human ensembl 74_37 +1 known rna NULL NULL 0.026:0.101:0.690 - - - no_errors UBAP2L HGNC ENSG00000143569 tier1 25 0 0.00 10 10 50.00 UBE2G2 0 genome.wustl.edu 37 21 46191376 46191376 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 46191376 46191376 C T SNP UBE2G2 ENST00000345496 human ensembl 74_37 -1 known silent c.414 p.V138 0.998 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2G2 HGNC ENSG00000184787 tier1 rs201143631 - 186 0 0.00 163 49 23.11 UBE2NL 0 genome.wustl.edu 37 X 142967510 142967510 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 142967510 142967510 G A SNP UBE2NL ENST00000370494 human ensembl 74_37 +1 known missense c.308 p.R103H 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2NL HGNC ENSG00000102069 tier1 rs150007003 - 110 0 0.00 123 18 12.77 UBE2Q2P1 0 genome.wustl.edu 37 15 85082970 85082970 + RNA SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 85082970 85082970 A G SNP UBE2Q2P1 ENST00000559958 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors UBE2Q2P1 HGNC ENSG00000189136 tier1 - - 148 0 0.00 154 25 13.97 UBE2S 0 genome.wustl.edu 37 19 55912953 55912953 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 55912953 55912953 C A SNP UBE2S ENST00000264552 human ensembl 74_37 -1 known missense c.520 p.G174C 0.332 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2S HGNC ENSG00000108106 tier1 - - 40 0 0.00 33 9 21.43 UBE3B 0 genome.wustl.edu 37 12 109961809 109961809 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 109961809 109961809 A G SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known silent c.2391 p.A797 0.542 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 tier1 - - 203 0 0.00 180 37 17.05 UBE3B 0 genome.wustl.edu 37 12 109972445 109972445 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 109972445 109972445 G A SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.3065 p.R1022H 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 tier1 - - 88 0 0.00 77 22 22.22 UBE3D 0 genome.wustl.edu 37 6 83667136 83667136 + Silent SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 83667136 83667136 G C SNP UBE3D ENST00000369747 human ensembl 74_37 -1 known silent c.1044 p.V348 0.982 pfam_UBQ-conj_enz_E2-bd_prot pfam_UBQ-conj_enz_E2-bd_prot - no_errors UBE3D HGNC ENSG00000118420 tier1 - - 60 0 0.00 71 21 22.83 UBN1 0 genome.wustl.edu 37 16 4909908 4909908 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 4909908 4909908 A - DEL UBN1 ENST00000262376 human ensembl 74_37 +1 known frame_shift_del c.610 p.D206fs 1.000 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 tier1 82 0 0.00 79 30 27.52 UBR3 0 genome.wustl.edu 37 2 170863622 170863622 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 170863622 170863622 G A SNP UBR3 ENST00000272793 human ensembl 74_37 +1 known nonsense c.4152 p.W1384* 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 tier1 - - 36 0 0.00 30 5 14.29 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 tier1 78 0 0.00 121 42 25.77 UBR5 0 genome.wustl.edu 37 8 103307255 103307255 + Missense_Mutation SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 103307255 103307255 G C SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.4143 p.D1381E 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 tier1 - - 33 0 0.00 65 15 18.75 UGT2B7 0 genome.wustl.edu 37 4 69973946 69973946 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 69973946 69973946 A G SNP UGT2B7 ENST00000305231 human ensembl 74_37 +1 known missense c.1216 p.M406V 0.686 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B7 HGNC ENSG00000171234 tier1 - - 154 0 0.00 167 35 17.33 ULK1 0 genome.wustl.edu 37 12 132402066 132402066 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 132402066 132402066 C - DEL ULK1 ENST00000321867 human ensembl 74_37 +1 known frame_shift_del c.2293 p.Q767fs 0.683 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 tier1 22 0 0.00 18 4 18.18 ULK4 0 genome.wustl.edu 37 3 41860985 41860985 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 41860985 41860985 T - DEL ULK4 ENST00000301831 human ensembl 74_37 -1 known frame_shift_del c.1778 p.K593fs 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ULK4 HGNC ENSG00000168038 tier1 53 0 0.00 56 17 23.29 UMODL1 0 genome.wustl.edu 37 21 43510525 43510525 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 43510525 43510525 G A SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.908 p.R303Q 0.000 smart_EGF-like_Ca-bd_dom pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 tier1 - - 90 0 0.00 90 8 8.16 UNC13A 0 genome.wustl.edu 37 19 17752341 17752341 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 17752341 17752341 C T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.2761 p.V921M 0.046 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 tier1 - - 54 0 0.00 75 16 17.58 UNC13B 0 genome.wustl.edu 37 9 35404014 35404014 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 35404014 35404014 C T SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.4817 p.T1606M 0.001 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 tier1 - - 46 0 0.00 52 8 13.33 UNC13C 0 genome.wustl.edu 37 15 54527276 54527276 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 54527276 54527276 A - DEL UNC13C ENST00000260323 human ensembl 74_37 +1 known frame_shift_del c.3120 p.T1043fs 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 49 0 0.00 59 10 14.49 UNC13C 0 genome.wustl.edu 37 15 54630617 54630617 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 54630617 54630617 C A SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.4643 p.A1548D 1.000 pfam_Ca-dep_secretion_activator pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 130 0 0.00 141 44 23.78 UNC13C 0 genome.wustl.edu 37 15 54919307 54919307 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 54919307 54919307 C A SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.6641 p.A2214D 0.974 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 20 0 0.00 32 4 11.11 UNC5CL 0 genome.wustl.edu 37 6 40998403 40998403 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 40998403 40998403 G - DEL UNC5CL ENST00000244565 human ensembl 74_37 -1 known frame_shift_del c.1211 p.P404fs 0.076 superfamily_DEATH-like_dom,smart_Death_domain pfam_ZU5,pfam_Death_domain,superfamily_DEATH-like_dom,smart_ZU5,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors UNC5CL HGNC ENSG00000124602 tier1 83 0 0.00 85 17 16.67 UNC93A 0 genome.wustl.edu 37 6 167705026 167705026 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 167705026 167705026 C T SNP UNC93A ENST00000230256 human ensembl 74_37 +1 known missense c.49 p.L17F 0.999 pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 tier1 - - 99 0 0.00 96 34 26.15 UQCRH 0 genome.wustl.edu 37 1 46775788 46775788 + RNA DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 46775788 46775788 A - DEL UQCRH ENST00000460947 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors UQCRH HGNC ENSG00000173660 tier1 29 0 0.00 27 4 12.90 USHBP1 0 genome.wustl.edu 37 19 17375099 17375099 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 17375099 17375099 G A SNP USHBP1 ENST00000252597 human ensembl 74_37 -1 known missense c.10 p.R4W 0.991 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC ENSG00000130307 tier1 - - 48 0 0.00 41 12 22.64 USP22 0 genome.wustl.edu 37 17 20911258 20911258 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 20911258 20911258 A G SNP USP22 ENST00000261497 human ensembl 74_37 -1 known silent c.1155 p.G385 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP22 HGNC ENSG00000124422 tier1 - - 111 0 0.00 130 14 9.72 USP24 0 genome.wustl.edu 37 1 55559716 55559716 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 55559716 55559716 C T SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.5768 p.R1923Q 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 tier1 - - 34 0 0.00 22 9 29.03 USP26 0 genome.wustl.edu 37 X 132160413 132160413 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 132160413 132160413 T - DEL USP26 ENST00000370832 human ensembl 74_37 -1 known frame_shift_del c.1836 p.G613fs 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 tier1 37 0 0.00 43 15 25.86 USP45 0 genome.wustl.edu 37 6 99893879 99893879 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 99893879 99893879 A - DEL USP45 ENST00000327681 human ensembl 74_37 -1 known frame_shift_del c.1769 p.L590fs 0.114 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP45 HGNC ENSG00000123552 tier1 48 0 0.00 41 19 31.67 USP48 0 genome.wustl.edu 37 1 22033386 22033387 + Frame_Shift_Del DEL AA AA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 22033386 22033387 AA - DEL USP48 ENST00000529637 human ensembl 74_37 -1 novel frame_shift_del c.1975_1974 p.S659fs 0.000:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 tier1 44 0 0.00 36 16 30.77 USP53 0 genome.wustl.edu 37 4 120213686 120213686 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 120213686 120213686 T C SNP USP53 ENST00000274030 human ensembl 74_37 +1 known missense c.2542 p.S848P 0.040 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP53 HGNC ENSG00000145390 tier1 - - 47 0 0.00 57 6 9.52 UTP11L 0 genome.wustl.edu 37 1 38483297 38483299 + RNA DEL TTT TTT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 38483297 38483299 TTT - DEL UTP11L ENST00000488453 human ensembl 74_37 +1 known rna NULL NULL 0.012:0.011:0.008 - - - no_errors UTP11L HGNC ENSG00000183520 tier1 22 0 0.00 19 10 34.48 UTP14A 0 genome.wustl.edu 37 X 129055439 129055439 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 129055439 129055439 G T SNP UTP14A ENST00000394422 human ensembl 74_37 +1 known missense c.1224 p.E408D 0.890 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 tier1 - - 82 0 0.00 60 20 25.00 VAC14 0 genome.wustl.edu 37 16 70721926 70721926 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 70721926 70721926 G A SNP VAC14 ENST00000261776 human ensembl 74_37 -1 known silent c.2254 p.L752 1.000 pfam_VAC14_Fig4p-bd pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 tier1 - - 148 0 0.00 116 34 22.67 VAV1 0 genome.wustl.edu 37 19 6832176 6832178 + In_Frame_Del DEL GAA GAA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 6832176 6832178 GAA - DEL VAV1 ENST00000602142 human ensembl 74_37 +1 known in_frame_del c.1473_1475 p.K494in_frame_del 1.000:1.000:1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 tier1 46 0 0.00 54 9 14.29 VCAN 0 genome.wustl.edu 37 5 82808007 82808007 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 82808007 82808007 A G SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.834 p.A278 0.154 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 tier1 - - 36 0 0.00 58 11 15.94 VCAN 0 genome.wustl.edu 37 5 82808055 82808055 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 82808055 82808055 C T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.882 p.C294 0.989 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 tier1 - - 45 0 0.00 49 10 16.95 VEGFB 0 genome.wustl.edu 37 11 64004663 64004664 + Frame_Shift_Del DEL AA AA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 64004663 64004664 AA - DEL VEGFB ENST00000309422 human ensembl 74_37 +1 known frame_shift_del c.379_380 p.K129fs 1.000:0.995 pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFB HGNC ENSG00000173511 tier1 147 0 0.00 123 27 18.00 VIT 0 genome.wustl.edu 37 2 37032748 37032749 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 37032748 37032749 - T INS VIT ENST00000379242 human ensembl 74_37 +1 known frame_shift_ins c.1330_1331 p.E445fs 0.863:0.960 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 tier1 90 0 0.00 80 25 23.81 VPREB1 0 genome.wustl.edu 37 22 22599401 22599401 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 22599401 22599401 C A SNP VPREB1 ENST00000403807 human ensembl 74_37 +1 known silent c.90 p.S30 0.004 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VPREB1 HGNC ENSG00000169575 tier1 - - 70 0 0.00 85 24 22.02 VPS13B 0 genome.wustl.edu 37 8 100866299 100866299 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 100866299 100866299 G A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.10757 p.R3586Q 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 - - 72 0 0.00 140 15 9.68 VPS13D 0 genome.wustl.edu 37 1 12337120 12337120 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 12337120 12337120 A G SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.3475 p.T1159A 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 tier1 - - 89 0 0.00 96 10 9.43 VPS13D 0 genome.wustl.edu 37 1 12405431 12405432 + Frame_Shift_Del DEL AC AC - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 12405431 12405432 AC - DEL VPS13D ENST00000358136 human ensembl 74_37 +1 known frame_shift_del c.8886_8887 p.T2964fs 1.000:1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 tier1 137 0 0.00 137 28 16.97 VPS28 0 genome.wustl.edu 37 8 145652341 145652341 + RNA DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 145652341 145652341 G - DEL VPS28 ENST00000526734 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors VPS28 HGNC ENSG00000160948 tier1 32 0 0.00 44 8 15.38 VPS33B 0 genome.wustl.edu 37 15 91548976 91548976 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 91548976 91548976 G A SNP VPS33B ENST00000333371 human ensembl 74_37 -1 known silent c.978 p.F326 0.941 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33B HGNC ENSG00000184056 tier1 - - 106 0 0.00 158 11 6.51 VPS36 0 genome.wustl.edu 37 13 52990249 52990249 + RNA DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 52990249 52990249 A - DEL VPS36 ENST00000462289 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors VPS36 HGNC ENSG00000136100 tier1 55 0 0.00 60 15 20.00 VPS45 0 genome.wustl.edu 37 1 150082564 150082564 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 150082564 150082564 T - DEL VPS45 ENST00000484306 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors VPS45 HGNC ENSG00000136631 tier1 35 0 0.00 21 7 25.00 VPS52 0 genome.wustl.edu 37 6 33236965 33236965 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 33236965 33236965 C T SNP VPS52 ENST00000445902 human ensembl 74_37 -1 known missense c.374 p.R125Q 1.000 pfam_Vps52,pfam_Exocyst_Exoc1/SEC3 pfam_Vps52,pfam_Exocyst_Exoc1/SEC3 - no_errors VPS52 HGNC ENSG00000223501 tier1 - - 119 0 0.00 100 34 25.37 WAC 0 genome.wustl.edu 37 10 28899642 28899642 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 28899642 28899642 G A SNP WAC ENST00000354911 human ensembl 74_37 +1 known missense c.1180 p.V394M 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WAC HGNC ENSG00000095787 tier1 - - 99 0 0.00 99 12 10.81 WASF2 0 genome.wustl.edu 37 1 27755387 27755387 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 27755387 27755387 G A SNP WASF2 ENST00000430629 human ensembl 74_37 -1 known missense c.14 p.T5M 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF2 HGNC ENSG00000158195 tier1 - - 57 0 0.00 54 14 20.59 WBSCR27 0 genome.wustl.edu 37 7 73249192 73249192 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 73249192 73249192 C T SNP WBSCR27 ENST00000297873 human ensembl 74_37 -1 known missense c.619 p.A207T 0.891 NULL pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase - no_errors WBSCR27 HGNC ENSG00000165171 tier1 - - 118 0 0.00 102 30 22.73 WDFY3 0 genome.wustl.edu 37 4 85750199 85750199 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 85750199 85750199 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.914 p.R305Q 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 tier1 - - 71 0 0.00 90 19 17.43 WDHD1 0 genome.wustl.edu 37 14 55429694 55429696 + In_Frame_Del DEL TCT TCT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 55429694 55429696 TCT - DEL WDHD1 ENST00000360586 human ensembl 74_37 -1 known in_frame_del c.2507_2505 p.E835in_frame_del 1.000:0.998:0.918 NULL pfam_WD40_repeat,pfam_DUF3639,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_box_dom,smart_WD40_repeat,smart_HMG_box_dom,pfscan_HMG_box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDHD1 HGNC ENSG00000198554 tier1 39 0 0.00 27 4 12.90 WDR17 0 genome.wustl.edu 37 4 177084444 177084444 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 177084444 177084444 G A SNP WDR17 ENST00000508596 human ensembl 74_37 +1 novel nonsense c.2990 p.W997* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR17 HGNC ENSG00000150627 tier1 - - 42 0 0.00 49 12 19.67 WDR20 0 genome.wustl.edu 37 14 102676082 102676082 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 102676082 102676082 G A SNP WDR20 ENST00000454394 human ensembl 74_37 +1 known silent c.1668 p.P556 0.978 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR20 HGNC ENSG00000140153 tier1 rs112900408 - 98 0 0.00 84 22 20.75 WDR47 0 genome.wustl.edu 37 1 109560141 109560141 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 109560141 109560141 T - DEL WDR47 ENST00000400794 human ensembl 74_37 -1 known frame_shift_del c.241 p.R81fs 1.000 smart_CTLH_C,pfscan_CTLH_C pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 tier1 40 0 0.00 47 12 20.34 WDR48 0 genome.wustl.edu 37 3 39108283 39108283 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 39108283 39108283 C T SNP WDR48 ENST00000302313 human ensembl 74_37 +1 known missense c.398 p.A133V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR48 HGNC ENSG00000114742 tier1 - - 80 0 0.00 88 26 22.81 WDR66 0 genome.wustl.edu 37 12 122361764 122361764 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 122361764 122361764 C T SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known silent c.615 p.N205 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 tier1 - - 90 0 0.00 85 14 14.00 WDR90 0 genome.wustl.edu 37 16 717484 717484 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 717484 717484 C T SNP WDR90 ENST00000315764 human ensembl 74_37 +1 known silent c.795 p.A265 0.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 tier1 - - 49 0 0.00 52 17 24.64 WDTC1 0 genome.wustl.edu 37 1 27621108 27621108 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 27621108 27621108 G - DEL WDTC1 ENST00000319394 human ensembl 74_37 +1 known frame_shift_del c.861 p.E290fs 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 tier1 42 0 0.00 24 19 44.19 WISP1 0 genome.wustl.edu 37 8 134225171 134225171 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 134225171 134225171 G A SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known missense c.134 p.R45H 1.000 pirsf_IGFBP_CNN pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 tier1 - - 50 0 0.00 86 16 15.69 WNT16 0 genome.wustl.edu 37 7 120971879 120971879 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 120971879 120971879 G - DEL WNT16 ENST00000222462 human ensembl 74_37 +1 known frame_shift_del c.494 p.G167fs 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt - no_errors WNT16 HGNC ENSG00000002745 tier1 53 0 0.00 80 16 16.67 WNT2B 0 genome.wustl.edu 37 1 113058861 113058861 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 113058861 113058861 G A SNP WNT2B ENST00000369684 human ensembl 74_37 +1 known missense c.503 p.C168Y 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2B HGNC ENSG00000134245 tier1 - - 114 0 0.00 128 44 25.58 WRAP73 0 genome.wustl.edu 37 1 3564023 3564023 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 3564023 3564023 C T SNP WRAP73 ENST00000270708 human ensembl 74_37 -1 known silent c.171 p.S57 0.061 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WRAP73 HGNC ENSG00000116213 tier1 - - 36 0 0.00 28 9 24.32 WRN 0 genome.wustl.edu 37 8 30948388 30948388 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 30948388 30948388 T C SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.1759 p.Y587H 0.645 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 tier1 - - 115 0 0.00 222 25 10.12 XAB2 0 genome.wustl.edu 37 19 7690850 7690850 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 7690850 7690850 C A SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known silent c.738 p.G246 0.925 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 tier1 - - 80 0 0.00 75 11 12.79 XAGE5 0 genome.wustl.edu 37 X 52842215 52842215 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 52842215 52842215 G A SNP XAGE5 ENST00000351072 human ensembl 74_37 +1 known missense c.124 p.D42N 0.008 pfam_GAGE pfam_GAGE - no_errors XAGE5 HGNC ENSG00000171405 tier1 - - 52 0 0.00 61 26 29.89 XCR1 0 genome.wustl.edu 37 3 46063400 46063400 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 46063400 46063400 A - DEL XCR1 ENST00000309285 human ensembl 74_37 -1 known frame_shift_del c.40 p.Y14fs 0.080 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 tier1 54 0 0.00 75 15 16.67 XDH 0 genome.wustl.edu 37 2 31596794 31596794 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 31596794 31596794 G A SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.1631 p.A544V 0.036 superfamily_Ald_Oxase/Xan_DH_a/b,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 tier1 - - 35 0 0.00 26 7 21.21 XKR4 0 genome.wustl.edu 37 8 56015841 56015841 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 56015841 56015841 G T SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.793 p.G265W 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 tier1 - - 90 0 0.00 110 16 12.70 XKR9 0 genome.wustl.edu 37 8 71646360 71646360 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 71646360 71646360 T - DEL XKR9 ENST00000408926 human ensembl 74_37 +1 known frame_shift_del c.823 p.F276fs 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR9 HGNC ENSG00000221947 tier1 24 0 0.00 52 4 7.14 XPA 0 genome.wustl.edu 37 9 100437634 100437635 + RNA DEL TT TT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 100437634 100437635 TT - DEL XPA ENST00000485042 human ensembl 74_37 -1 known rna NULL NULL 0.004:0.002 - - - no_errors XPA HGNC ENSG00000136936 tier1 8 0 0.00 3 3 50.00 XPO1 0 genome.wustl.edu 37 2 61713094 61713094 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 61713094 61713094 C T SNP XPO1 ENST00000401558 human ensembl 74_37 -1 known missense c.2317 p.A773T 1.000 pfam_CRM1_C_dom,superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 tier1 - - 24 0 0.00 13 5 27.78 XRN2 0 genome.wustl.edu 37 20 21324732 21324732 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 21324732 21324732 C T SNP XRN2 ENST00000377191 human ensembl 74_37 +1 known missense c.1415 p.P472L 1.000 pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 tier1 - - 77 0 0.00 106 47 30.72 XYLT2 0 genome.wustl.edu 37 17 48433974 48433974 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 48433974 48433974 G A SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known missense c.1585 p.G529S 0.963 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 tier1 - - 125 0 0.00 91 22 19.30 YES1 0 genome.wustl.edu 37 18 745962 745963 + Frame_Shift_Del DEL CT CT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 745962 745963 CT - DEL YES1 ENST00000314574 human ensembl 74_37 -1 known frame_shift_del c.560_559 p.S187fs 1.000:1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors YES1 HGNC ENSG00000176105 tier1 22 0 0.00 12 5 29.41 YIPF3 0 genome.wustl.edu 37 6 43483693 43483693 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 43483693 43483693 C A SNP YIPF3 ENST00000372422 human ensembl 74_37 -1 known missense c.222 p.E74D 0.003 NULL NULL - no_errors YIPF3 HGNC ENSG00000137207 tier1 - - 133 0 0.00 181 32 15.02 YME1L1 0 genome.wustl.edu 37 10 27423766 27423766 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 27423766 27423766 T - DEL YME1L1 ENST00000326799 human ensembl 74_37 -1 known frame_shift_del c.856 p.T286fs 1.000 NULL pfam_Peptidase_M41,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors YME1L1 HGNC ENSG00000136758 tier1 56 0 0.00 60 13 17.81 YPEL1 0 genome.wustl.edu 37 22 22057674 22057674 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 22057674 22057674 C T SNP YPEL1 ENST00000339468 human ensembl 74_37 -1 known silent c.255 p.T85 0.698 pfam_Yippee/Mis18 pfam_Yippee/Mis18 - no_errors YPEL1 HGNC ENSG00000100027 tier1 - - 104 0 0.00 99 19 16.10 YY1AP1 0 genome.wustl.edu 37 1 155658010 155658012 + In_Frame_Del DEL GAG GAG - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 155658010 155658012 GAG - DEL YY1AP1 ENST00000368339 human ensembl 74_37 -1 known in_frame_del c.246_244 p.L82in_frame_del 0.998:0.997:0.996 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 tier1 36 0 0.00 43 7 14.00 ZAN 0 genome.wustl.edu 37 7 100361705 100361705 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 100361705 100361705 A G SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.4153 p.M1385V 0.997 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 tier1 - - 79 0 0.00 53 11 17.19 ZBED4 0 genome.wustl.edu 37 22 50280310 50280310 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 50280310 50280310 G A SNP ZBED4 ENST00000216268 human ensembl 74_37 +1 known silent c.3000 p.P1000 0.899 superfamily_RNaseH-like_dom pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 tier1 - - 20 0 0.00 23 7 23.33 ZBTB18 0 genome.wustl.edu 37 1 244218317 244218317 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 244218317 244218317 C T SNP ZBTB18 ENST00000358704 human ensembl 74_37 +1 known missense c.1241 p.A414V 0.949 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB18 HGNC ENSG00000179456 tier1 - - 73 0 0.00 78 17 17.89 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 tier1 88 0 0.00 79 11 12.22 ZBTB34 0 genome.wustl.edu 37 9 129642864 129642864 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 129642864 129642864 C T SNP ZBTB34 ENST00000319119 human ensembl 74_37 +1 known nonsense c.1186 p.R396* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB34 HGNC ENSG00000177125 tier1 - - 47 0 0.00 40 18 31.03 ZBTB4 0 genome.wustl.edu 37 17 7365428 7365428 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 7365428 7365428 G A SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known missense c.2873 p.A958V 0.994 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 tier1 - - 381 0 0.00 345 95 21.59 ZBTB46 0 genome.wustl.edu 37 20 62407156 62407156 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 62407156 62407156 G A SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known missense c.1097 p.A366V 0.996 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 tier1 - - 130 0 0.00 109 16 12.80 ZBTB46 0 genome.wustl.edu 37 20 62421706 62421706 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 62421706 62421706 C T SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known silent c.405 p.S135 0.003 pfam_DUF3342 pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 tier1 - - 43 0 0.00 36 15 29.41 ZBTB7C 0 genome.wustl.edu 37 18 45567084 45567085 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 45567084 45567085 - C INS ZBTB7C ENST00000332053 human ensembl 74_37 -1 known frame_shift_ins c.395_394 p.D132fs 0.004:0.050 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7C HGNC ENSG00000184828 tier1 30 0 0.00 28 3 9.68 ZC3H12B 0 genome.wustl.edu 37 X 64722078 64722078 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 64722078 64722078 C - DEL ZC3H12B ENST00000338957 human ensembl 74_37 +1 known frame_shift_del c.1500 p.H502fs 0.626 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 tier1 236 0 0.00 299 79 20.90 ZC3H13 0 genome.wustl.edu 37 13 46539504 46539504 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 46539504 46539504 T C SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.4382 p.Y1461C 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 tier1 - - 168 0 0.00 198 65 24.62 ZC3H18 0 genome.wustl.edu 37 16 88675400 88675400 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 88675400 88675400 G A SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known missense c.1147 p.G383R 1.000 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 tier1 - - 131 0 0.00 120 52 30.23 ZC3H7B 0 genome.wustl.edu 37 22 41735182 41735182 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 41735182 41735182 T C SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known missense c.803 p.L268P 1.000 NULL pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 tier1 - - 111 0 0.00 93 20 17.70 ZC3H7B 0 genome.wustl.edu 37 22 41721568 41721568 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 41721568 41721568 G A SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known silent c.54 p.Q18 1.000 NULL pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 17 0 0.00 19 4 17.39 ZCCHC12 0 genome.wustl.edu 37 X 117959711 117959711 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 117959711 117959711 A C SNP ZCCHC12 ENST00000310164 human ensembl 74_37 +1 known missense c.504 p.K168N 1.000 NULL superfamily_Znf_CCHC - no_errors ZCCHC12 HGNC ENSG00000174460 tier1 - - 185 0 0.00 155 49 24.02 ZCCHC8 0 genome.wustl.edu 37 12 122958812 122958812 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 122958812 122958812 T C SNP ZCCHC8 ENST00000336229 human ensembl 74_37 -1 known silent c.1356 p.V452 0.000 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 tier1 - - 108 0 0.00 99 23 18.85 ZCCHC9 0 genome.wustl.edu 37 5 80600751 80600751 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 80600751 80600751 A - DEL ZCCHC9 ENST00000254037 human ensembl 74_37 +1 known frame_shift_del c.175 p.K60fs 0.997 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC9 HGNC ENSG00000131732 tier1 51 0 0.00 68 23 25.27 ZFAT 0 genome.wustl.edu 37 8 135614541 135614541 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 135614541 135614541 C T SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.1421 p.R474H 0.986 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 tier1 - - 56 0 0.00 104 12 10.34 ZFHX3 0 genome.wustl.edu 37 16 72821600 72821600 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 72821600 72821600 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.10575 p.G3525 0.965 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 tier1 - - 89 0 0.00 65 16 19.05 ZFHX3 0 genome.wustl.edu 37 16 72821630 72821630 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 72821630 72821630 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.10545 p.G3515 0.822 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 tier1 - - 30 0 0.00 28 12 30.00 ZFHX3 0 genome.wustl.edu 37 16 72992701 72992701 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 72992701 72992701 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.1344 p.D448 0.309 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 tier1 - - 150 0 0.00 158 20 11.24 ZFP36L2 0 genome.wustl.edu 37 2 43452623 43452623 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 43452623 43452623 C - DEL ZFP36L2 ENST00000282388 human ensembl 74_37 -1 known frame_shift_del c.320 p.G107fs 1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 tier1 26 0 0.00 22 7 24.14 ZFPM1 0 genome.wustl.edu 37 16 88599104 88599104 + Silent SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 88599104 88599104 G T SNP ZFPM1 ENST00000319555 human ensembl 74_37 +1 known silent c.1029 p.T343 0.489 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM1 HGNC ENSG00000179588 21 0 0.00 25 3 10.71 ZIC3 0 genome.wustl.edu 37 X 136649466 136649466 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 136649466 136649466 C T SNP ZIC3 ENST00000287538 human ensembl 74_37 +1 known missense c.616 p.R206C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ENSG00000156925 tier1 - - 86 0 0.00 78 23 22.77 ZIC4 0 genome.wustl.edu 37 3 147106593 147106593 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 147106593 147106593 C T SNP ZIC4 ENST00000472749 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZIC4 HGNC ENSG00000174963 tier1 - - 63 0 0.00 45 12 21.05 ZMAT1 0 genome.wustl.edu 37 X 101138439 101138439 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 101138439 101138439 T - DEL ZMAT1 ENST00000494068 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZMAT1 HGNC ENSG00000166432 tier1 29 0 0.00 28 15 34.88 ZNF114 0 genome.wustl.edu 37 19 48789111 48789111 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 48789111 48789111 C T SNP ZNF114 ENST00000315849 human ensembl 74_37 +1 known missense c.230 p.T77M 0.000 pfscan_Krueppel-associated_box 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 ZNF114 HGNC ENSG00000178150 tier1 - - 108 0 0.00 84 33 28.21 ZNF133 0 genome.wustl.edu 37 20 18286334 18286334 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 18286334 18286334 G A SNP ZNF133 ENST00000396026 human ensembl 74_37 +1 known missense c.13 p.A5T 1.000 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 ZNF133 HGNC ENSG00000125846 tier1 - - 66 0 0.00 80 23 22.33 ZNF134 0 genome.wustl.edu 37 19 58131654 58131654 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 58131654 58131654 G A SNP ZNF134 ENST00000396161 human ensembl 74_37 +1 known missense c.167 p.G56D 0.001 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF134 HGNC ENSG00000213762 tier1 - - 150 0 0.00 152 35 18.72 ZNF136 0 genome.wustl.edu 37 19 12298591 12298591 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 12298591 12298591 T C SNP ZNF136 ENST00000343979 human ensembl 74_37 +1 known silent c.1398 p.H466 0.749 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF136 HGNC ENSG00000196646 tier1 - - 41 0 0.00 44 8 15.38 ZNF142 0 genome.wustl.edu 37 2 219513771 219513771 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 219513771 219513771 C T SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known missense c.860 p.R287H 0.008 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 tier1 - - 35 0 0.00 48 18 27.27 ZNF142 0 genome.wustl.edu 37 2 219513792 219513792 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 219513792 219513792 G A SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known missense c.839 p.A280V 0.342 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 tier1 - - 33 0 0.00 43 14 24.56 ZNF160 0 genome.wustl.edu 37 19 53577421 53577421 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 53577421 53577421 C T SNP ZNF160 ENST00000418871 human ensembl 74_37 -1 known silent c.243 p.T81 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF160 HGNC ENSG00000170949 tier1 - - 180 0 0.00 128 45 26.01 ZNF174 0 genome.wustl.edu 37 16 3458870 3458870 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 3458870 3458870 G A SNP ZNF174 ENST00000268655 human ensembl 74_37 +1 known missense c.1175 p.R392H 0.893 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF174 HGNC ENSG00000103343 tier1 - - 95 0 0.00 79 23 22.55 ZNF182 0 genome.wustl.edu 37 X 47836480 47836480 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 47836480 47836480 G A SNP ZNF182 ENST00000305127 human ensembl 74_37 -1 known missense c.1006 p.H336Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF182 HGNC ENSG00000147118 tier1 - - 82 0 0.00 118 26 18.06 ZNF185 0 genome.wustl.edu 37 X 152083288 152083288 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 152083288 152083288 T C SNP ZNF185 ENST00000370270 human ensembl 74_37 +1 known silent c.69 p.N23 0.803 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 12 0 0.00 7 2 22.22 ZNF225 0 genome.wustl.edu 37 19 44636736 44636736 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 44636736 44636736 T C SNP ZNF225 ENST00000262894 human ensembl 74_37 +1 known missense c.1969 p.C657R 0.588 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF225 HGNC ENSG00000256294 tier1 - - 30 0 0.00 39 9 18.75 ZNF267 0 genome.wustl.edu 37 16 31927273 31927273 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 31927273 31927273 G A SNP ZNF267 ENST00000300870 human ensembl 74_37 +1 known missense c.1703 p.R568Q 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF267 HGNC ENSG00000185947 tier1 - - 40 0 0.00 57 12 17.39 ZNF273 0 genome.wustl.edu 37 7 64378633 64378633 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 64378633 64378633 C T SNP ZNF273 ENST00000476120 human ensembl 74_37 +1 known silent c.288 p.C96 0.903 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 ZNF273 HGNC ENSG00000198039 tier1 - - 156 0 0.00 160 38 19.19 ZNF275 0 genome.wustl.edu 37 X 152613165 152613165 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 152613165 152613165 G A SNP ZNF275 ENST00000440091 human ensembl 74_37 +1 known missense c.1112 p.R371H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF275 HGNC ENSG00000063587 tier1 - - 22 0 0.00 23 8 25.81 ZNF318 0 genome.wustl.edu 37 6 43305585 43305585 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 43305585 43305585 G A SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known missense c.6151 p.P2051S 0.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 tier1 - - 51 0 0.00 70 22 23.91 ZNF324B 0 genome.wustl.edu 37 19 58967726 58967726 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 58967726 58967726 G A SNP ZNF324B ENST00000336614 human ensembl 74_37 +1 known missense c.1415 p.R472Q 0.165 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF324B HGNC ENSG00000249471 tier1 - - 143 0 0.00 113 19 14.39 ZNF337 0 genome.wustl.edu 37 20 25657650 25657650 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 25657650 25657650 G A SNP ZNF337 ENST00000252979 human ensembl 74_37 -1 known missense c.274 p.R92W 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF337 HGNC ENSG00000130684 14 0 0.00 35 9 20.45 ZNF366 0 genome.wustl.edu 37 5 71756036 71756036 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 71756036 71756036 A G SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known missense c.1288 p.F430L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 tier1 - - 46 0 0.00 45 14 23.73 ZNF385D 0 genome.wustl.edu 37 3 21465454 21465454 + Splice_Site DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 21465454 21465454 C - DEL ZNF385D ENST00000281523 human ensembl 74_37 -1 known splice_site_del c.954+1 e7+1 1.000 - - - no_errors ZNF385D HGNC ENSG00000151789 tier1 84 0 0.00 81 18 18.18 ZNF423 0 genome.wustl.edu 37 16 49670997 49670997 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 49670997 49670997 G A SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.2066 p.S689L 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 tier1 - - 95 0 0.00 67 32 32.32 ZNF426 0 genome.wustl.edu 37 19 9639674 9639674 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 9639674 9639674 C T SNP ZNF426 ENST00000253115 human ensembl 74_37 -1 known silent c.1047 p.S349 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF426 HGNC ENSG00000130818 tier1 - - 54 0 0.00 62 13 17.33 ZNF431 0 genome.wustl.edu 37 19 21365724 21365725 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 21365724 21365725 0 A INS ZNF431 ENST00000311048 human ensembl 74_37 +1 known frame_shift_ins c.618_619 p.C208fs 0.009:0.005 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF431 HGNC ENSG00000196705 49 0 0.00 58 12 17.14 ZNF44 0 genome.wustl.edu 37 19 12384448 12384448 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 12384448 12384448 A - DEL ZNF44 ENST00000393337 human ensembl 74_37 -1 known frame_shift_del c.766 p.W256fs 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF44 HGNC ENSG00000197857 tier1 110 0 0.00 116 28 19.44 ZNF48 0 genome.wustl.edu 37 16 30409310 30409310 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 30409310 30409310 C - DEL ZNF48 ENST00000320159 human ensembl 74_37 +1 known frame_shift_del c.739 p.R249fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 tier1 71 0 0.00 73 18 19.78 ZNF493 0 genome.wustl.edu 37 19 21606889 21606889 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 21606889 21606889 T C SNP ZNF493 ENST00000355504 human ensembl 74_37 +1 known silent c.1044 p.L348 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 tier1 - - 38 0 0.00 35 4 10.26 ZNF506 0 genome.wustl.edu 37 19 19906351 19906351 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 19906351 19906351 T - DEL ZNF506 ENST00000443905 human ensembl 74_37 -1 known frame_shift_del c.345 p.G116fs 0.861 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF506 HGNC ENSG00000081665 tier1 70 0 0.00 85 22 20.56 ZNF517 0 genome.wustl.edu 37 8 146029117 146029117 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 146029117 146029117 T C SNP ZNF517 ENST00000359971 human ensembl 74_37 +1 known missense c.125 p.V42A 0.998 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 ZNF517 HGNC ENSG00000197363 tier1 - - 116 0 0.00 158 19 10.73 ZNF518A 0 genome.wustl.edu 37 10 97918856 97918856 + RNA DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 97918856 97918856 A - DEL ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.867 - - - no_errors ZNF518A HGNC ENSG00000177853 tier1 50 0 0.00 56 14 20.00 ZNF521 0 genome.wustl.edu 37 18 22807259 22807259 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 22807259 22807259 C T SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.623 p.R208H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 49 0 0.00 42 13 23.64 ZNF540 0 genome.wustl.edu 37 19 38102620 38102620 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 38102620 38102620 A - DEL ZNF540 ENST00000316433 human ensembl 74_37 +1 known frame_shift_del c.439 p.M149fs 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 ZNF540 HGNC ENSG00000171817 tier1 122 0 0.00 119 42 26.09 ZNF585A 0 genome.wustl.edu 37 19 37642737 37642737 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 37642737 37642737 T C SNP ZNF585A ENST00000356958 human ensembl 74_37 -1 known silent c.2064 p.K688 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF585A HGNC ENSG00000196967 tier1 - - 37 0 0.00 42 11 20.75 ZNF606 0 genome.wustl.edu 37 19 58490395 58490395 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 58490395 58490395 G A SNP ZNF606 ENST00000341164 human ensembl 74_37 -1 known silent c.1653 p.D551 0.038 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF606 HGNC ENSG00000166704 58 0 0.00 58 4 6.45 ZNF614 0 genome.wustl.edu 37 19 52519392 52519392 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 52519392 52519392 C T SNP ZNF614 ENST00000270649 human ensembl 74_37 -1 known missense c.1459 p.E487K 0.312 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF614 HGNC ENSG00000142556 tier1 - - 175 0 0.00 179 41 18.64 ZNF616 0 genome.wustl.edu 37 19 52618100 52618100 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 52618100 52618100 T C SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known missense c.2317 p.T773A 0.009 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 ZNF616 HGNC ENSG00000204611 tier1 - - 76 0 0.00 68 17 20.00 ZNF616 0 genome.wustl.edu 37 19 52618714 52618714 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 52618714 52618714 C T SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known missense c.1703 p.R568Q 0.042 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF616 HGNC ENSG00000204611 tier1 - - 52 0 0.00 54 18 25.00 ZNF621 0 genome.wustl.edu 37 3 40571012 40571012 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 40571012 40571012 G A SNP ZNF621 ENST00000462161 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF621 HGNC ENSG00000172888 tier1 - - 39 0 0.00 33 12 26.67 ZNF646 0 genome.wustl.edu 37 16 31093044 31093046 + In_Frame_Del DEL AGG AGG - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 31093044 31093046 AGG - DEL ZNF646 ENST00000394979 human ensembl 74_37 +1 known in_frame_del c.5399_5401 p.E1802in_frame_del 0.000:0.000:0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 tier1 22 0 0.00 25 5 16.67 ZNF655 0 genome.wustl.edu 37 7 99159585 99159585 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 99159585 99159585 G A SNP ZNF655 ENST00000320583 human ensembl 74_37 +1 known missense c.211 p.A71T 1.000 superfamily_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF655 HGNC ENSG00000197343 tier1 - - 13 0 0.00 14 8 36.36 ZNF675 0 genome.wustl.edu 37 19 23844986 23844986 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 23844986 23844986 C T SNP ZNF675 ENST00000359788 human ensembl 74_37 -1 known silent c.156 p.L52 0.259 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 ZNF675 HGNC ENSG00000197372 tier1 - - 92 0 0.00 109 29 20.86 ZNF682 0 genome.wustl.edu 37 19 20117672 20117672 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 20117672 20117672 G A SNP ZNF682 ENST00000397165 human ensembl 74_37 -1 known silent c.639 p.F213 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF682 HGNC ENSG00000197124 tier1 - - 32 0 0.00 38 7 15.56 ZNF710 0 genome.wustl.edu 37 15 90610713 90610713 + Missense_Mutation SNP A A T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 90610713 90610713 A T SNP ZNF710 ENST00000268154 human ensembl 74_37 +1 known missense c.344 p.E115V 0.995 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 tier1 - - 28 0 0.00 27 6 18.18 ZNF711 0 genome.wustl.edu 37 X 84510294 84510294 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 84510294 84510294 G A SNP ZNF711 ENST00000395402 human ensembl 74_37 +1 known missense c.43 p.D15N 1.000 NULL pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 tier1 - - 90 0 0.00 89 24 21.24 ZNF740 0 genome.wustl.edu 37 12 53579255 53579255 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 53579255 53579255 A - DEL ZNF740 ENST00000416904 human ensembl 74_37 +1 known frame_shift_del c.244 p.K83fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF740 HGNC ENSG00000139651 tier1 31 0 0.00 39 7 15.22 ZNF747 0 genome.wustl.edu 37 16 30544331 30544331 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 30544331 30544331 C T SNP ZNF747 ENST00000535210 human ensembl 74_37 -1 known missense c.482 p.R161Q 0.000 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 ZNF747 HGNC ENSG00000169955 tier1 - - 41 0 0.00 35 21 37.50 ZNF761 0 genome.wustl.edu 37 19 53958524 53958524 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 53958524 53958524 C T SNP ZNF761 ENST00000334095 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ZNF761 HGNC ENSG00000160336 tier1 - - 134 0 0.00 136 34 20.00 ZNF793 0 genome.wustl.edu 37 19 38028040 38028040 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 38028040 38028040 A - DEL ZNF793 ENST00000445217 human ensembl 74_37 +1 known frame_shift_del c.480 p.K162fs 0.540 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 ZNF793 HGNC ENSG00000188227 tier1 18 0 0.00 25 3 10.71 ZNF800 0 genome.wustl.edu 37 7 127013667 127013667 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 127013667 127013667 T - DEL ZNF800 ENST00000265827 human ensembl 74_37 -1 known frame_shift_del c.1723 p.R575fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 tier1 53 0 0.00 59 12 16.90 ZNF804B 0 genome.wustl.edu 37 7 88964514 88964514 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 88964514 88964514 C A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.2218 p.L740I 0.412 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 39 0 0.00 63 14 18.18 ZNF814 0 genome.wustl.edu 37 19 58384744 58384744 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 58384744 58384744 T C SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.2014 p.K672E 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 18 0 0.00 14 3 17.65 ZNF816-ZNF321P 0 genome.wustl.edu 37 19 53431849 53431849 + RNA SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 53431849 53431849 A C SNP ZNF816-ZNF321P ENST00000313956 human ensembl 74_37 -1 known rna NULL NULL 0.085 - - - no_errors ZNF816-ZNF321P HGNC ENSG00000213801 tier1 - - 51 0 0.00 56 13 18.84 ZNF839 0 genome.wustl.edu 37 14 102793200 102793201 + Frame_Shift_Del DEL AG AG - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 102793200 102793201 AG - DEL ZNF839 ENST00000442396 human ensembl 74_37 +1 known frame_shift_del c.1167_1168 p.E390fs 0.000:0.001 NULL pfscan_Znf_C2H2 - no_errors ZNF839 HGNC ENSG00000022976 tier1 15 0 0.00 14 9 39.13 ZNF90 0 genome.wustl.edu 37 19 20228702 20228702 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 20228702 20228702 A - DEL ZNF90 ENST00000418063 human ensembl 74_37 +1 known frame_shift_del c.339 p.G116fs 0.054 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 ZNF90 HGNC ENSG00000213988 tier1 21 0 0.00 36 13 26.53 ZNF93 0 genome.wustl.edu 37 19 20044270 20044270 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 20044270 20044270 A - DEL ZNF93 ENST00000343769 human ensembl 74_37 +1 known frame_shift_del c.506 p.K171fs 0.897 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF93 HGNC ENSG00000184635 tier1 32 0 0.00 41 5 10.87 ZW10 0 genome.wustl.edu 37 11 113604435 113604435 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 113604435 113604435 G A SNP ZW10 ENST00000200135 human ensembl 74_37 -1 known missense c.2321 p.A774V 1.000 NULL pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 tier1 - - 90 0 0.00 98 31 24.03 ZZEF1 0 genome.wustl.edu 37 17 3967998 3967998 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 3967998 3967998 G A SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.4375 p.R1459C 0.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 tier1 - - 79 0 0.00 93 16 14.68 SLC35A3 0 genome.wustl.edu 37 1 100483314 100483314 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 100483314 100483314 C T SNP SLC35A3 ENST00000370153 human ensembl 74_37 +1 known missense c.956 p.S319L 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A3 HGNC ENSG00000117620 19 0 0 24 9 27.2727 SASS6 0 genome.wustl.edu 37 1 100553700 100553700 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 100553700 100553700 C A SNP SASS6 ENST00000287482 human ensembl 74_37 -1 known missense c.1767 p.K589N 1.000 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 71 0 0 54 19 26.0274 AKNAD1 0 genome.wustl.edu 37 1 109366085 109366085 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 109366085 109366085 A G SNP AKNAD1 ENST00000370001 human ensembl 74_37 -1 known missense c.2074 p.Y692H 0.355 NULL pfam_TF_AT-hook - no_errors AKNAD1 HGNC ENSG00000162641 86 0 0 61 26 29.8851 ALX3 0 genome.wustl.edu 37 1 110613030 110613030 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 110613030 110613030 C T SNP ALX3 ENST00000369792 human ensembl 74_37 -1 known missense c.205 p.A69T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ALX3 HGNC ENSG00000156150 15 0 0 15 6 28.5714 KCNC4 0 genome.wustl.edu 37 1 110754666 110754666 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 110754666 110754666 G A SNP KCNC4 ENST00000369787 human ensembl 74_37 +1 known missense c.545 p.R182Q 0.996 prints_K_chnl_volt-dep_Kv3.4 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 16 0 0 10 5 33.3333 ANGPTL7 0 genome.wustl.edu 37 1 11254542 11254542 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 11254542 11254542 G A SNP ANGPTL7 ENST00000376819 human ensembl 74_37 +1 known missense c.697 p.A233T 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL7 HGNC ENSG00000171819 119 0 0 136 37 21.3873 MTOR 0 genome.wustl.edu 37 1 11273588 11273588 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 11273588 11273588 C T SNP MTOR ENST00000361445 human ensembl 74_37 -1 known silent c.3153 p.T1051 0.380 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 89 0 0 87 22 20.1835 WNT2B 0 genome.wustl.edu 37 1 113058861 113058861 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 113058861 113058861 G A SNP WNT2B ENST00000369684 human ensembl 74_37 +1 known missense c.503 p.C168Y 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2B HGNC ENSG00000134245 106 0 0 111 38 25.5034 MAGI3 0 genome.wustl.edu 37 1 114201872 114201872 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 114201872 114201872 G A SNP MAGI3 ENST00000369611 human ensembl 74_37 +1 known missense c.2800 p.V934I 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI3 HGNC ENSG00000081026 53 0 0 49 16 24.6154 PTCHD2 0 genome.wustl.edu 37 1 11561862 11561862 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 11561862 11561862 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known silent c.813 p.A271 0.457 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 16 0 0 31 4 11.4286 IGSF3 0 genome.wustl.edu 37 1 117146634 117146634 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 117146634 117146634 G A SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known silent c.1296 p.S432 0.986 pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 27 0 0 23 9 28.125 VPS13D 0 genome.wustl.edu 37 1 12337120 12337120 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 12337120 12337120 A G SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.3475 p.T1159A 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 84 0 0 90 9 9.09091 HNRNPCL1 0 genome.wustl.edu 37 1 12907980 12907980 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 12907980 12907980 C T SNP HNRNPCL1 ENST00000317869 human ensembl 74_37 -1 known missense c.163 p.V55I 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC ENSG00000179172 196 0 0 215 14 6.11354 ENSG00000203849 0 genome.wustl.edu 37 1 142713944 142713944 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 142713944 142713944 C T SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 15 0 0 9 5 35.7143 PRPF3 0 genome.wustl.edu 37 1 150300846 150300846 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 150300846 150300846 G A SNP PRPF3 ENST00000324862 human ensembl 74_37 +1 known missense c.344 p.R115H 1.000 NULL pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors PRPF3 HGNC ENSG00000117360 190 0 0 177 46 20.6278 ECM1 0 genome.wustl.edu 37 1 150485239 150485239 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 150485239 150485239 G A SNP ECM1 ENST00000369049 human ensembl 74_37 +1 known missense c.1424 p.R475H 0.981 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 310 0 0 264 75 22.1239 POGZ 0 genome.wustl.edu 37 1 151381286 151381286 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 151381286 151381286 A G SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.1945 p.C649R 1.000 smart_Znf_C2H2-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 227 0 0 241 66 21.4984 FLG 0 genome.wustl.edu 37 1 152277475 152277475 + Nonsense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 152277475 152277475 G T SNP FLG ENST00000368799 human ensembl 74_37 -1 known nonsense c.9887 p.S3296* 0.001 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 656 2 0.303951 611 145 19.1799 FLG 0 genome.wustl.edu 37 1 152283655 152283655 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 152283655 152283655 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.3707 p.R1236H 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 333 1 0.299401 342 93 21.3793 FLG 0 genome.wustl.edu 37 1 152284761 152284761 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 152284761 152284761 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.2601 p.S867 0.000 prints_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 446 0 0 553 46 7.67947 FLG 0 genome.wustl.edu 37 1 152286128 152286128 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 152286128 152286128 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.1234 p.R412C 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 412 0 0 475 42 8.12379 CRTC2 0 genome.wustl.edu 37 1 153923904 153923904 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 153923904 153923904 G A SNP CRTC2 ENST00000368633 human ensembl 74_37 -1 known silent c.1236 p.G412 0.519 NULL NULL - no_errors CRTC2 HGNC ENSG00000160741 23 0 0 18 4 18.1818 NUP210L 0 genome.wustl.edu 37 1 154042916 154042916 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 154042916 154042916 G A SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.2387 p.T796I 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 25 0 0 20 6 23.0769 ADAR 0 genome.wustl.edu 37 1 154560661 154560661 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 154560661 154560661 G A SNP ADAR ENST00000292205 human ensembl 74_37 -1 known missense c.3088 p.R1030C 0.600 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 232 0 0 240 75 23.8095 CKS1B 0 genome.wustl.edu 37 1 154950476 154950476 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 154950476 154950476 C T SNP CKS1B ENST00000308987 human ensembl 74_37 +1 known missense c.73 p.P25S 1.000 pfam_Cyclin-dep_kinase_reg-sub,superfamily_Cyclin-dep_kinase_reg-sub,prints_Cyclin-dep_kinase_reg-sub pfam_Cyclin-dep_kinase_reg-sub,superfamily_Cyclin-dep_kinase_reg-sub,prints_Cyclin-dep_kinase_reg-sub - no_errors CKS1B HGNC ENSG00000173207 77 0 0 50 12 19.3548 EFNA4 0 genome.wustl.edu 37 1 155041454 155041454 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 155041454 155041454 C T SNP EFNA4 ENST00000368409 human ensembl 74_37 +1 known nonsense c.595 p.R199* 0.975 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA4 HGNC ENSG00000243364 111 0 0 82 35 29.9145 GBA 0 genome.wustl.edu 37 1 155209725 155209725 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 155209725 155209725 G A SNP GBA ENST00000327247 human ensembl 74_37 -1 known missense c.259 p.R87W 0.833 pfam_Glyco_hydro_30 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 - no_errors GBA HGNC ENSG00000177628 41 0 0 38 8 17.3913 PKLR 0 genome.wustl.edu 37 1 155264509 155264509 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 155264509 155264509 G A SNP PKLR ENST00000342741 human ensembl 74_37 -1 known silent c.729 p.G243 0.601 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase-like_insert_dom,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 36 0 0 29 11 27.5 RUSC1 0 genome.wustl.edu 37 1 155291869 155291869 + Missense_Mutation SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 155291869 155291869 G C SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known missense c.305 p.C102S 1.000 NULL pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 43 0 0 40 11 21.5686 ASH1L 0 genome.wustl.edu 37 1 155450418 155450418 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 155450418 155450418 C T SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.2243 p.S748N 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 106 0 0 110 29 20.8633 ASH1L 0 genome.wustl.edu 37 1 155451725 155451725 + Silent SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 155451725 155451725 A C SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known silent c.936 p.T312 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 111 0 0 115 41 26.2821 MIB2 0 genome.wustl.edu 37 1 1560249 1560249 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 1560249 1560249 G A SNP MIB2 ENST00000505820 human ensembl 74_37 +1 known missense c.839 p.R280Q 1.000 pfam_Mib_Herc2 pfam_Mib_Herc2,pfam_Ankyrin_rpt,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB2 HGNC ENSG00000197530 50 0 0 38 11 22.449 MRPL24 0 genome.wustl.edu 37 1 156708136 156708136 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 156708136 156708136 G A SNP MRPL24 ENST00000361531 human ensembl 74_37 -1 known missense c.278 p.T93I 1.000 superfamily_Translation_prot_SH3-like,tigrfam_Ribosomal_L24 pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L24 - no_errors MRPL24 HGNC ENSG00000143314 361 0 0 306 83 21.3368 CD5L 0 genome.wustl.edu 37 1 157805863 157805863 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 157805863 157805863 G A SNP CD5L ENST00000368174 human ensembl 74_37 -1 known silent c.138 p.G46 0.855 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD5L HGNC ENSG00000073754 149 0 0 135 34 20.1183 KIRREL 0 genome.wustl.edu 37 1 158047862 158047862 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 158047862 158047862 A G SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.284 p.D95G 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 160 0 0 156 47 23.1527 CD1D 0 genome.wustl.edu 37 1 158153810 158153810 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 158153810 158153810 G A SNP CD1D ENST00000368171 human ensembl 74_37 +1 known missense c.971 p.R324Q 0.011 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1D HGNC ENSG00000158473 147 0 0 138 46 25 SPTA1 0 genome.wustl.edu 37 1 158637647 158637647 + Splice_Site SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 158637647 158637647 C T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known splice_site c.2038+1 e15+1 1.000 - - - no_errors SPTA1 HGNC ENSG00000163554 20 0 0 36 5 12.1951 CRP 0 genome.wustl.edu 37 1 159683406 159683406 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 159683406 159683406 C T SNP CRP ENST00000255030 human ensembl 74_37 -1 known missense c.584 p.G195D 0.009 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors CRP HGNC ENSG00000132693 98 0 0 121 22 15.3846 ATP1A4 0 genome.wustl.edu 37 1 160156153 160156153 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 160156153 160156153 G A SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known silent c.3057 p.P1019 0.216 tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 133 0 0 131 41 23.8372 EPHA2 0 genome.wustl.edu 37 1 16458672 16458672 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 16458672 16458672 G T SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known missense c.2212 p.R738S 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 134 1 0.740741 157 14 8.18713 UCK2 0 genome.wustl.edu 37 1 165865547 165865547 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 165865547 165865547 G A SNP UCK2 ENST00000367879 human ensembl 74_37 +1 known silent c.477 p.A159 0.342 pfam_PRK/URK,pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Uridine_kinase pfam_PRK/URK,pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCK2 HGNC ENSG00000143179 207 1 0.480769 248 42 14.4828 ADCY10 0 genome.wustl.edu 37 1 167815237 167815237 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 167815237 167815237 G A SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known missense c.2702 p.P901L 0.001 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 53 0 0 84 22 20.7547 TIPRL 0 genome.wustl.edu 37 1 168169164 168169164 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 168169164 168169164 G A SNP TIPRL ENST00000367833 human ensembl 74_37 +1 known silent c.699 p.T233 1.000 NULL pfam_TIP41-like - no_errors TIPRL HGNC ENSG00000143155 37 0 0 57 15 20.8333 CROCCP2 0 genome.wustl.edu 37 1 16952905 16952905 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 16952905 16952905 G A SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.977 - - - no_errors CROCCP2 HGNC ENSG00000215908 82 0 0 87 7 7.44681 MST1L 0 genome.wustl.edu 37 1 17085014 17085014 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 17085014 17085014 G A SNP MST1L ENST00000455405 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors MST1L HGNC ENSG00000186715 91 0 0 114 9 7.31707 TNN 0 genome.wustl.edu 37 1 175046698 175046698 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 175046698 175046698 C T SNP TNN ENST00000239462 human ensembl 74_37 +1 known silent c.144 p.I48 0.266 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 52 0 0 42 18 30 TNN 0 genome.wustl.edu 37 1 175049362 175049362 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 175049362 175049362 A C SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.848 p.E283A 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 41 0 0 50 23 31.5068 PAPPA2 0 genome.wustl.edu 37 1 176564478 176564478 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 176564478 176564478 C T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.1738 p.R580W 1.000 superfamily_Notch_dom,smart_Notch_dom pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 85 0 0 111 22 16.5414 QSOX1 0 genome.wustl.edu 37 1 180163400 180163400 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 180163400 180163400 C T SNP QSOX1 ENST00000367602 human ensembl 74_37 +1 known silent c.1341 p.F447 0.156 pfam_ERV/ALR_sulphydryl_oxidase,superfamily_ERV/ALR_sulphydryl_oxidase pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX1 HGNC ENSG00000116260 33 0 0 44 13 22.807 MR1 0 genome.wustl.edu 37 1 181018211 181018211 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 181018211 181018211 C T SNP MR1 ENST00000367580 human ensembl 74_37 +1 known missense c.91 p.R31C 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors MR1 HGNC ENSG00000153029 37 0 0 40 17 29.8246 CACNA1E 0 genome.wustl.edu 37 1 181727095 181727095 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 181727095 181727095 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.4342 p.D1448N 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 101 0 0 111 31 21.831 CACNA1E 0 genome.wustl.edu 37 1 181767885 181767885 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 181767885 181767885 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.6857 p.R2286Q 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 24 0 0 31 7 18.4211 AKR7A3 0 genome.wustl.edu 37 1 19615059 19615059 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 19615059 19615059 A G SNP AKR7A3 ENST00000361640 human ensembl 74_37 -1 known missense c.145 p.Y49H 0.376 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A3 HGNC ENSG00000162482 23 0 0 21 5 19.2308 F13B 0 genome.wustl.edu 37 1 197009744 197009744 + Silent SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 197009744 197009744 A C SNP F13B ENST00000367412 human ensembl 74_37 -1 known silent c.1860 p.T620 0.000 superfamily_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 38 0 0 55 4 6.77966 C1orf106 0 genome.wustl.edu 37 1 200880780 200880780 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 200880780 200880780 A G SNP C1orf106 ENST00000367342 human ensembl 74_37 +1 known missense c.1414 p.S472G 1.000 NULL pfam_DUF3338 - no_errors C1orf106 HGNC ENSG00000163362 174 0 0 163 42 20.4878 KIF21B 0 genome.wustl.edu 37 1 200973992 200973992 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 200973992 200973992 T C SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.802 p.K268E 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 70 0 0 73 14 16.092 IGFN1 0 genome.wustl.edu 37 1 201195003 201195003 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 201195003 201195003 C T SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.10538 p.T3513M 0.853 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 40 0 0 39 14 26.4151 TMEM183A 0 genome.wustl.edu 37 1 202985149 202985149 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 202985149 202985149 C T SNP TMEM183A ENST00000367242 human ensembl 74_37 +1 known missense c.589 p.R197C 1.000 NULL superfamily_F-box_dom - no_errors TMEM183A HGNC ENSG00000163444 144 0 0 110 35 24.1379 PPFIA4 0 genome.wustl.edu 37 1 203044708 203044708 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 203044708 203044708 G A SNP PPFIA4 ENST00000414050 human ensembl 74_37 +1 known missense c.2518 p.D840N 0.978 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA4 HGNC ENSG00000143847 37 0 0 30 6 16.6667 CHI3L1 0 genome.wustl.edu 37 1 203148963 203148963 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 203148963 203148963 C T SNP CHI3L1 ENST00000255409 human ensembl 74_37 -1 known missense c.937 p.G313S 0.002 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC ENSG00000133048 111 0 0 92 31 25.2033 ATP2B4 0 genome.wustl.edu 37 1 203668653 203668653 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 203668653 203668653 G A SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known missense c.457 p.A153T 1.000 NULL 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 95 0 0 123 11 8.20896 ATP2B4 0 genome.wustl.edu 37 1 203683366 203683366 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 203683366 203683366 C T SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known silent c.2367 p.D789 0.854 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase 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 99 0 0 83 15 15.3061 PIK3C2B 0 genome.wustl.edu 37 1 204401452 204401452 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 204401452 204401452 G A SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known missense c.4031 p.T1344M 0.999 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 82 0 0 79 37 31.8966 CNTN2 0 genome.wustl.edu 37 1 205038678 205038678 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 205038678 205038678 G A SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known missense c.2185 p.V729I 0.904 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 34 0 0 31 15 32.6087 SH2D5 0 genome.wustl.edu 37 1 21050627 21050627 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 21050627 21050627 A G SNP SH2D5 ENST00000444387 human ensembl 74_37 -1 known missense c.748 p.Y250H 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH2 - no_errors SH2D5 HGNC ENSG00000189410 107 0 0 100 21 17.3554 HHAT 0 genome.wustl.edu 37 1 210577855 210577855 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 210577855 210577855 G A SNP HHAT ENST00000391905 human ensembl 74_37 +1 known silent c.516 p.T172 0.439 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors HHAT HGNC ENSG00000054392 49 0 0 47 16 25.3968 EIF4G3 0 genome.wustl.edu 37 1 21226367 21226367 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 21226367 21226367 A G SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known missense c.1672 p.F558L 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 166 0 0 163 41 20.098 RPS6KC1 0 genome.wustl.edu 37 1 213414401 213414401 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 213414401 213414401 T C SNP RPS6KC1 ENST00000366960 human ensembl 74_37 +1 known missense c.1582 p.S528P 0.629 NULL pfam_Prot_kinase_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors RPS6KC1 HGNC ENSG00000136643 35 0 0 46 15 24.5902 PROX1 0 genome.wustl.edu 37 1 214170585 214170585 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 214170585 214170585 G A SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.707 p.R236H 1.000 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 45 0 0 58 7 10.7692 CENPF 0 genome.wustl.edu 37 1 214830482 214830482 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 214830482 214830482 C T SNP CENPF ENST00000366955 human ensembl 74_37 +1 known nonsense c.8692 p.R2898* 0.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 136 0 0 184 16 8 IARS2 0 genome.wustl.edu 37 1 220276857 220276857 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 220276857 220276857 T C SNP IARS2 ENST00000302637 human ensembl 74_37 +1 known missense c.1019 p.V340A 0.940 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS2 HGNC ENSG00000067704 57 0 0 70 16 18.6047 HLX 0 genome.wustl.edu 37 1 221057861 221057861 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 221057861 221057861 G A SNP HLX ENST00000366903 human ensembl 74_37 +1 known missense c.1282 p.G428S 0.701 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors HLX HGNC ENSG00000136630 27 0 0 15 5 25 LDLRAD2 0 genome.wustl.edu 37 1 22140998 22140998 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 22140998 22140998 G A SNP LDLRAD2 ENST00000344642 human ensembl 74_37 +1 known missense c.193 p.G65R 0.049 superfamily_CUB_dom pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,superfamily_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD2 HGNC ENSG00000187942 78 0 0 59 19 24.359 HSPG2 0 genome.wustl.edu 37 1 22158149 22158149 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 22158149 22158149 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.11348 p.S3783F 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 22 0 0 22 4 15.3846 HSPG2 0 genome.wustl.edu 37 1 22186421 22186421 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 22186421 22186421 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.5089 p.R1697W 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 32 0 0 37 5 11.9048 DUSP10 0 genome.wustl.edu 37 1 221912919 221912919 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 221912919 221912919 C T SNP DUSP10 ENST00000366899 human ensembl 74_37 -1 known silent c.168 p.A56 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP10 HGNC ENSG00000143507 87 0 0 96 34 26.1538 DISP1 0 genome.wustl.edu 37 1 223177874 223177874 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 223177874 223177874 C T SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel silent c.3135 p.A1045 0.006 pfam_Patched,pfam_MMPL_dom pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 146 0 0 148 65 30.5164 OBSCN 0 genome.wustl.edu 37 1 228494865 228494865 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 228494865 228494865 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.12190 p.R4064C 0.037 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 76 0 0 84 17 16.8317 ABCB10 0 genome.wustl.edu 37 1 229678079 229678079 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 229678079 229678079 C T SNP ABCB10 ENST00000344517 human ensembl 74_37 -1 known missense c.961 p.V321M 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB10 HGNC ENSG00000135776 36 0 0 28 5 15.1515 EPHB2 0 genome.wustl.edu 37 1 23237054 23237054 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 23237054 23237054 G A SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known silent c.2682 p.A894 0.184 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 36 0 0 43 4 8.51064 KCNK1 0 genome.wustl.edu 37 1 233807091 233807091 + Missense_Mutation SNP T T A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 233807091 233807091 T A SNP KCNK1 ENST00000366621 human ensembl 74_37 +1 known missense c.826 p.F276I 1.000 pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl - no_errors KCNK1 HGNC ENSG00000135750 42 0 0 39 11 22 GPR137B 0 genome.wustl.edu 37 1 236371451 236371451 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 236371451 236371451 T G SNP GPR137B ENST00000366592 human ensembl 74_37 +1 known missense c.1193 p.L398R 0.017 NULL NULL - no_errors GPR137B HGNC ENSG00000077585 36 0 0 47 8 14.5455 RYR2 0 genome.wustl.edu 37 1 237729878 237729878 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 237729878 237729878 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.3220 p.E1074K 0.770 pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 38 0 0 41 11 21.1538 ZP4 0 genome.wustl.edu 37 1 238053227 238053227 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 238053227 238053227 C T SNP ZP4 ENST00000366570 human ensembl 74_37 -1 known missense c.340 p.A114T 0.000 NULL pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP4 HGNC ENSG00000116996 279 1 0.357143 286 97 25.3264 E2F2 0 genome.wustl.edu 37 1 23842929 23842929 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 23842929 23842929 C T SNP E2F2 ENST00000361729 human ensembl 74_37 -1 known missense c.943 p.E315K 0.954 NULL pfam_E2F_TDP - no_errors E2F2 HGNC ENSG00000007968 17 0 0 19 7 26.9231 SDCCAG8 0 genome.wustl.edu 37 1 243542145 243542145 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 243542145 243542145 G T SNP SDCCAG8 ENST00000366541 human ensembl 74_37 +1 known missense c.1596 p.E532D 1.000 NULL NULL - no_errors SDCCAG8 HGNC ENSG00000054282 69 0 0 69 22 24.1758 MYOM3 0 genome.wustl.edu 37 1 24419572 24419572 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 24419572 24419572 G A SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known missense c.958 p.R320W 0.004 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom 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 MYOM3 HGNC ENSG00000142661 69 0 0 36 20 35.7143 ZBTB18 0 genome.wustl.edu 37 1 244218317 244218317 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 244218317 244218317 C T SNP ZBTB18 ENST00000358704 human ensembl 74_37 +1 known missense c.1241 p.A414V 0.949 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB18 HGNC ENSG00000179456 70 0 0 75 16 17.5824 KIF26B 0 genome.wustl.edu 37 1 245850642 245850642 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 245850642 245850642 G A SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.4357 p.A1453T 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 14 0 0 11 4 26.6667 NLRP3 0 genome.wustl.edu 37 1 247587800 247587800 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 247587800 247587800 C A SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known missense c.1055 p.P352H 0.982 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 81 0 0 96 22 18.6441 OR2M5 0 genome.wustl.edu 37 1 248308797 248308797 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 248308797 248308797 T C SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known silent c.348 p.A116 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 327 0 0 307 106 25.6659 OR2T4 0 genome.wustl.edu 37 1 248525069 248525069 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 248525069 248525069 A C SNP OR2T4 ENST00000366475 human ensembl 74_37 +1 known missense c.187 p.I63L 0.498 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T4 HGNC ENSG00000196944 193 0 0 181 46 20.2643 LDLRAP1 0 genome.wustl.edu 37 1 25880440 25880440 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 25880440 25880440 G A SNP LDLRAP1 ENST00000374338 human ensembl 74_37 +1 known missense c.116 p.R39Q 1.000 NULL pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors LDLRAP1 HGNC ENSG00000157978 49 0 0 60 14 18.9189 TRIM63 0 genome.wustl.edu 37 1 26387826 26387826 + Splice_Site SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 26387826 26387826 C T SNP TRIM63 ENST00000374272 human ensembl 74_37 -1 known splice_site c.333-1 e3-1 1.000 - - - no_errors TRIM63 HGNC ENSG00000158022 39 0 0 42 5 10.6383 CNKSR1 0 genome.wustl.edu 37 1 26511555 26511555 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 26511555 26511555 C A SNP CNKSR1 ENST00000374253 human ensembl 74_37 +1 known silent c.1207 p.R403 0.748 pfscan_Pleckstrin_homology 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 25 0 0 16 3 15.7895 ARID1A 0 genome.wustl.edu 37 1 27107183 27107183 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 27107183 27107183 C A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.6794 p.P2265Q 0.999 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 118 0 0 87 24 21.6216 GPR3 0 genome.wustl.edu 37 1 27721004 27721004 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 27721004 27721004 G A SNP GPR3 ENST00000374024 human ensembl 74_37 +1 known silent c.702 p.L234 1.000 pfam_GPCR_Rhodpsn,prints_GPR_3/6/12_orphan,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPR_3/6/12_orphan,prints_GPR3,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR3 HGNC ENSG00000181773 59 0 0 68 8 10.5263 WASF2 0 genome.wustl.edu 37 1 27755387 27755387 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 27755387 27755387 G A SNP WASF2 ENST00000430629 human ensembl 74_37 -1 known missense c.14 p.T5M 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF2 HGNC ENSG00000158195 48 0 0 51 13 20.3125 EYA3 0 genome.wustl.edu 37 1 28330930 28330930 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 28330930 28330930 G A SNP EYA3 ENST00000373871 human ensembl 74_37 -1 known missense c.910 p.R304W 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA3 HGNC ENSG00000158161 46 0 0 24 9 27.2727 RAB42 0 genome.wustl.edu 37 1 28920569 28920569 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 28920569 28920569 C A SNP RAB42 ENST00000373826 human ensembl 74_37 +1 known missense c.258 p.H86Q 0.990 superfamily_P-loop_NTPase pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RAB42 HGNC ENSG00000188060 38 0 0 43 11 20.3704 MATN1 0 genome.wustl.edu 37 1 31194386 31194386 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 31194386 31194386 C T SNP MATN1 ENST00000373765 human ensembl 74_37 -1 known missense c.307 p.A103T 0.012 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_VWF_A - no_errors MATN1 HGNC ENSG00000162510 176 1 0.564972 180 37 17.0507 SPOCD1 0 genome.wustl.edu 37 1 32259758 32259758 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 32259758 32259758 G A SNP SPOCD1 ENST00000360482 human ensembl 74_37 -1 known missense c.2350 p.H784Y 0.751 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 103 0 0 70 30 30 TXLNA 0 genome.wustl.edu 37 1 32655672 32655672 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 32655672 32655672 G A SNP TXLNA ENST00000373609 human ensembl 74_37 +1 known missense c.785 p.R262Q 1.000 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNA HGNC ENSG00000084652 10 0 0 8 5 38.4615 TSSK3 0 genome.wustl.edu 37 1 32829736 32829736 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 32829736 32829736 C A SNP TSSK3 ENST00000373534 human ensembl 74_37 +1 known missense c.686 p.P229H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TSSK3 HGNC ENSG00000162526 138 0 0 143 36 20.1117 KIAA1522 0 genome.wustl.edu 37 1 33234356 33234356 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 33234356 33234356 C T SNP KIAA1522 ENST00000401073 human ensembl 74_37 +1 known missense c.566 p.S189L 0.994 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 26 0 0 31 4 11.4286 WRAP73 0 genome.wustl.edu 37 1 3564023 3564023 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 3564023 3564023 C T SNP WRAP73 ENST00000270708 human ensembl 74_37 -1 known silent c.171 p.S57 0.061 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WRAP73 HGNC ENSG00000116213 32 0 0 28 9 24.3243 AGO4 0 genome.wustl.edu 37 1 36319142 36319142 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 36319142 36319142 C T SNP AGO4 ENST00000373210 human ensembl 74_37 +1 known missense c.2522 p.P841L 1.000 NULL 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 57 0 0 61 15 19.7368 STK40 0 genome.wustl.edu 37 1 36820884 36820884 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 36820884 36820884 T C SNP STK40 ENST00000373130 human ensembl 74_37 -1 known missense c.508 p.K170E 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK40 HGNC ENSG00000196182 212 0 0 200 44 18.0328 GRIK3 0 genome.wustl.edu 37 1 37325480 37325480 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 37325480 37325480 G A SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.925 p.R309W 0.992 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 57 0 0 70 17 19.5402 GNL2 0 genome.wustl.edu 37 1 38033289 38033289 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 38033289 38033289 C T SNP GNL2 ENST00000373062 human ensembl 74_37 -1 known silent c.2028 p.A676 0.006 NULL pfam_NOG2_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL2 HGNC ENSG00000134697 67 0 0 95 18 15.9292 MACF1 0 genome.wustl.edu 37 1 39827164 39827164 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 39827164 39827164 C T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.6400 p.R2134W 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 101 0 0 102 26 20.3125 COL9A2 0 genome.wustl.edu 37 1 40773388 40773388 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 40773388 40773388 G A SNP COL9A2 ENST00000372748 human ensembl 74_37 -1 known missense c.941 p.T314M 0.927 NULL pfam_Collagen - no_errors COL9A2 HGNC ENSG00000049089 37 0 0 41 14 25.4545 COL9A2 0 genome.wustl.edu 37 1 40779936 40779936 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 40779936 40779936 G A SNP COL9A2 ENST00000372748 human ensembl 74_37 -1 known missense c.190 p.P64S 0.217 pfam_Collagen pfam_Collagen - no_errors COL9A2 HGNC ENSG00000049089 148 0 0 155 38 19.6891 KCNQ4 0 genome.wustl.edu 37 1 41289877 41289877 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 41289877 41289877 G A SNP KCNQ4 ENST00000347132 human ensembl 74_37 +1 known silent c.1239 p.P413 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ4 HGNC ENSG00000117013 15 0 0 16 4 20 TIE1 0 genome.wustl.edu 37 1 43778241 43778241 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 43778241 43778241 G A SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known silent c.1896 p.S632 0.854 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 61 0 0 59 22 27.1605 SZT2 0 genome.wustl.edu 37 1 43908170 43908170 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 43908170 43908170 C T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known silent c.7861 p.L2621 0.994 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 103 0 0 82 22 21.1538 TESK2 0 genome.wustl.edu 37 1 45810871 45810871 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 45810871 45810871 G A SNP TESK2 ENST00000372086 human ensembl 74_37 -1 known missense c.1357 p.R453W 0.996 NULL 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 TESK2 HGNC ENSG00000070759 105 0 0 119 34 22.2222 MRPL37 0 genome.wustl.edu 37 1 54671061 54671061 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 54671061 54671061 G A SNP MRPL37 ENST00000360840 human ensembl 74_37 +1 known silent c.624 p.T208 0.000 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPL37 HGNC ENSG00000116221 82 0 0 75 23 23.4694 USP24 0 genome.wustl.edu 37 1 55559716 55559716 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 55559716 55559716 C T SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.5768 p.R1923Q 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 28 0 0 20 9 31.0345 PPAP2B 0 genome.wustl.edu 37 1 57002669 57002669 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 57002669 57002669 G A SNP PPAP2B ENST00000371250 human ensembl 74_37 -1 known silent c.255 p.D85 0.831 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2B HGNC ENSG00000162407 100 0 0 120 33 21.5686 PLEKHG5 0 genome.wustl.edu 37 1 6533171 6533171 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 6533171 6533171 T C SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known missense c.1096 p.R366G 0.984 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 77 0 0 72 11 13.253 LEPR 0 genome.wustl.edu 37 1 66031254 66031254 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 66031254 66031254 T C SNP LEPR ENST00000349533 human ensembl 74_37 +1 known silent c.6 p.I2 0.083 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 25 0 0 32 9 21.9512 CTH 0 genome.wustl.edu 37 1 70904442 70904442 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 70904442 70904442 G A SNP CTH ENST00000370938 human ensembl 74_37 +1 known missense c.1124 p.R375Q 1.000 pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,pirsf_Cys/Met-Metab_PyrdxlP-dep_enz pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cys/Met-Metab_PyrdxlP-dep_enz - no_errors CTH HGNC ENSG00000116761 100 0 0 86 20 18.8679 LRRIQ3 0 genome.wustl.edu 37 1 74507515 74507515 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 74507515 74507515 T C SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known missense c.1100 p.N367S 0.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 45 0 0 50 13 20.6349 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74835983 74835983 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 74835983 74835983 T C SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.2021 p.L674S 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 35 0 0 43 13 23.2143 TYW3 0 genome.wustl.edu 37 1 75204466 75204466 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 75204466 75204466 G T SNP TYW3 ENST00000370867 human ensembl 74_37 +1 known missense c.348 p.Q116H 0.971 pfam_tRNA_yW-synthesising,superfamily_tRNA_yW-synthesising pfam_tRNA_yW-synthesising,superfamily_tRNA_yW-synthesising - no_errors TYW3 HGNC ENSG00000162623 21 0 0 21 5 19.2308 CAMTA1 0 genome.wustl.edu 37 1 7700521 7700521 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 7700521 7700521 C A SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.572 p.P191H 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 128 0 0 125 16 11.3475 ST6GALNAC5 0 genome.wustl.edu 37 1 77334258 77334258 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 77334258 77334258 G A SNP ST6GALNAC5 ENST00000477717 human ensembl 74_37 +1 known missense c.92 p.G31D 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC5 HGNC ENSG00000117069 34 0 0 45 19 29.6875 LPAR3 0 genome.wustl.edu 37 1 85331365 85331365 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 85331365 85331365 G A SNP LPAR3 ENST00000370611 human ensembl 74_37 -1 known silent c.439 p.L147 0.249 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG7,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt - no_errors LPAR3 HGNC ENSG00000171517 280 0 0 289 87 23.1383 RBMXL1 0 genome.wustl.edu 37 1 89448607 89448607 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 89448607 89448607 C T SNP RBMXL1 ENST00000321792 human ensembl 74_37 -1 known silent c.903 p.P301 0.997 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC ENSG00000213516 231 0 0 243 68 21.865 GBP1 0 genome.wustl.edu 37 1 89522618 89522618 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 89522618 89522618 C A SNP GBP1 ENST00000370473 human ensembl 74_37 -1 known missense c.1074 p.R358S 0.019 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP1 HGNC ENSG00000117228 135 0 0 120 44 26.8293 LRRC8D 0 genome.wustl.edu 37 1 90400023 90400023 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 90400023 90400023 C T SNP LRRC8D ENST00000337338 human ensembl 74_37 +1 known missense c.1396 p.R466C 0.988 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 77 0 0 64 15 18.9873 FNBP1L 0 genome.wustl.edu 37 1 94009752 94009752 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 94009752 94009752 T C SNP FNBP1L ENST00000271234 human ensembl 74_37 +1 known missense c.1253 p.L418P 1.000 superfamily_HR1_rho-bd pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FNBP1L HGNC ENSG00000137942 29 0 0 46 3 6.12245 ABCA4 0 genome.wustl.edu 37 1 94543323 94543323 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 94543323 94543323 C T SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known missense c.1477 p.D493N 0.011 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 127 0 0 160 40 20 ARHGAP29 0 genome.wustl.edu 37 1 94668128 94668128 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 94668128 94668128 C T SNP ARHGAP29 ENST00000260526 human ensembl 74_37 -1 known missense c.1115 p.R372Q 1.000 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 103 0 0 121 27 18.2432 CLSTN1 0 genome.wustl.edu 37 1 9809940 9809940 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 9809940 9809940 G A SNP CLSTN1 ENST00000377298 human ensembl 74_37 -1 known silent c.681 p.Y227 0.355 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 41 0 0 41 7 14.5833 CWF19L1 0 genome.wustl.edu 37 10 101997853 101997853 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 101997853 101997853 G A SNP CWF19L1 ENST00000354105 human ensembl 74_37 -1 known missense c.1180 p.R394W 0.996 pfam_Cwf19-like_C_dom-1,superfamily_HIT-like pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L1 HGNC ENSG00000095485 144 0 0 156 53 25.3589 PKD2L1 0 genome.wustl.edu 37 10 102089765 102089765 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 102089765 102089765 G A SNP PKD2L1 ENST00000318222 human ensembl 74_37 -1 known silent c.96 p.H32 0.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC ENSG00000107593 146 0 0 119 26 17.931 OBFC1 0 genome.wustl.edu 37 10 105659880 105659880 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 105659880 105659880 G A SNP OBFC1 ENST00000224950 human ensembl 74_37 -1 known nonsense c.397 p.R133* 0.606 pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_CST_STN1 pfam_CST_STN1_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_CST_STN1 - no_errors OBFC1 HGNC ENSG00000107960 83 0 0 93 20 17.6991 ADD3 0 genome.wustl.edu 37 10 111886200 111886200 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 111886200 111886200 T C SNP ADD3 ENST00000356080 human ensembl 74_37 +1 known missense c.1547 p.L516S 0.990 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 34 0 0 48 12 20 ADRA2A 0 genome.wustl.edu 37 10 112839042 112839042 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 112839042 112839042 G A SNP ADRA2A ENST00000280155 human ensembl 74_37 +1 known missense c.1288 p.G430S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_Musac_Ach_rcpt - no_errors ADRA2A HGNC ENSG00000150594 154 0 0 150 33 18.0328 PLEKHS1 0 genome.wustl.edu 37 10 115540378 115540378 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 115540378 115540378 C T SNP PLEKHS1 ENST00000369312 human ensembl 74_37 +1 known silent c.939 p.I313 0.039 NULL NULL - no_errors PLEKHS1 HGNC ENSG00000148735 64 0 0 46 14 23.3333 ABLIM1 0 genome.wustl.edu 37 10 116247768 116247768 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 116247768 116247768 G A SNP ABLIM1 ENST00000277895 human ensembl 74_37 -1 known silent c.990 p.T330 0.993 smart_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 160 0 0 172 36 17.3077 CPXM2 0 genome.wustl.edu 37 10 125639769 125639769 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 125639769 125639769 C T SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.361 p.D121N 0.006 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 193 1 0.515464 150 44 22.6804 DOCK1 0 genome.wustl.edu 37 10 128807014 128807014 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 128807014 128807014 T C SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.1004 p.I335T 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 9 0 0 8 4 33.3333 MKI67 0 genome.wustl.edu 37 10 129902475 129902475 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 129902475 129902475 C A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.7629 p.R2543S 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 134 1 0.740741 121 34 21.9355 MKI67 0 genome.wustl.edu 37 10 129906577 129906577 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 129906577 129906577 G A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.3527 p.T1176M 0.001 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 249 0 0 267 72 21.2389 ADAM8 0 genome.wustl.edu 37 10 135086017 135086017 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 135086017 135086017 C T SNP ADAM8 ENST00000445355 human ensembl 74_37 -1 known missense c.778 p.V260I 0.213 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM8 HGNC ENSG00000151651 78 0 0 71 16 18.3908 ECHS1 0 genome.wustl.edu 37 10 135179542 135179542 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 135179542 135179542 G A SNP ECHS1 ENST00000368547 human ensembl 74_37 -1 known missense c.677 p.A226V 1.000 NULL pfam_Crotonase_core_superfam - no_errors ECHS1 HGNC ENSG00000127884 81 0 0 68 14 17.0732 ITGA8 0 genome.wustl.edu 37 10 15688893 15688893 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 15688893 15688893 C T SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known missense c.1159 p.G387S 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 34 0 0 45 9 16.6667 STAM 0 genome.wustl.edu 37 10 17746448 17746448 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 17746448 17746448 C A SNP STAM ENST00000377524 human ensembl 74_37 +1 known missense c.931 p.L311I 0.993 NULL pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM HGNC ENSG00000136738 82 0 0 127 8 5.92593 ARMC4 0 genome.wustl.edu 37 10 28233216 28233216 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 28233216 28233216 C T SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known missense c.1678 p.A560T 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 38 0 0 45 9 16.6667 WAC 0 genome.wustl.edu 37 10 28899642 28899642 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 28899642 28899642 G A SNP WAC ENST00000354911 human ensembl 74_37 +1 known missense c.1180 p.V394M 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WAC HGNC ENSG00000095787 89 0 0 89 10 10.101 BAMBI 0 genome.wustl.edu 37 10 28971178 28971178 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 28971178 28971178 T C SNP BAMBI ENST00000375533 human ensembl 74_37 +1 known silent c.631 p.L211 0.992 pirsf_BMP/activin_membr-bound_inhib pfam_BMP/activin_membr-bound_inhib,pfam_Activin_rcpt,pirsf_BMP/activin_membr-bound_inhib - no_errors BAMBI HGNC ENSG00000095739 79 0 0 80 13 13.9785 SVIL 0 genome.wustl.edu 37 10 29759315 29759315 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 29759315 29759315 G A SNP SVIL ENST00000355867 human ensembl 74_37 -1 known silent c.5733 p.S1911 1.000 smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 98 0 0 91 35 27.7778 PARD3 0 genome.wustl.edu 37 10 34649052 34649052 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 34649052 34649052 C T SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known missense c.1843 p.A615T 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 87 0 0 103 23 18.254 FZD8 0 genome.wustl.edu 37 10 35928968 35928968 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 35928968 35928968 C T SNP FZD8 ENST00000374694 human ensembl 74_37 -1 known missense c.1390 p.G464S 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD8 HGNC ENSG00000177283 21 0 0 31 11 26.1905 RBP3 0 genome.wustl.edu 37 10 48388824 48388824 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 48388824 48388824 T C SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known missense c.2054 p.Q685R 1.000 NULL pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 72 0 0 59 18 23.3766 GDF2 0 genome.wustl.edu 37 10 48416386 48416386 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 48416386 48416386 G A SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known missense c.308 p.T103M 0.989 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 70 0 0 73 20 21.5054 FAM13C 0 genome.wustl.edu 37 10 61112053 61112053 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 61112053 61112053 C T SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known missense c.301 p.G101R 0.989 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 77 0 0 69 8 10.3896 ANK3 0 genome.wustl.edu 37 10 61835192 61835192 + Missense_Mutation SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 61835192 61835192 G C SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.5447 p.T1816S 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 164 0 0 181 45 19.9115 HK1 0 genome.wustl.edu 37 10 71048517 71048517 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 71048517 71048517 G A SNP HK1 ENST00000448642 human ensembl 74_37 +1 known silent c.18 p.Q6 0.913 NULL pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 50 0 0 47 9 16.0714 H2AFY2 0 genome.wustl.edu 37 10 71855480 71855480 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 71855480 71855480 C T SNP H2AFY2 ENST00000373255 human ensembl 74_37 +1 known missense c.659 p.T220I 1.000 pfam_Macro_dom,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom,prints_Histone_H2A - no_errors H2AFY2 HGNC ENSG00000099284 47 0 0 46 10 17.8571 ADAMTS14 0 genome.wustl.edu 37 10 72517730 72517730 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 72517730 72517730 T G SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known missense c.2959 p.C987G 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 100 0 0 95 19 16.6667 SLC29A3 0 genome.wustl.edu 37 10 73111355 73111355 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 73111355 73111355 G A SNP SLC29A3 ENST00000373189 human ensembl 74_37 +1 known silent c.420 p.T140 0.000 NULL pfam_Eqnu_transpt,prints_Eqnu_transpt - no_errors SLC29A3 HGNC ENSG00000198246 75 0 0 64 17 20.9877 CDH23 0 genome.wustl.edu 37 10 73501614 73501614 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 73501614 73501614 G A SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.4796 p.R1599H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 26 0 0 8 9 52.9412 SEC24C 0 genome.wustl.edu 37 10 75529469 75529469 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 75529469 75529469 C A SNP SEC24C ENST00000339365 human ensembl 74_37 +1 known missense c.2660 p.A887D 1.000 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 77 0 0 72 17 19.1011 ITIH5 0 genome.wustl.edu 37 10 7627910 7627910 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 7627910 7627910 G A SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known silent c.1062 p.S354 0.002 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 70 0 0 52 10 16.129 DUSP13 0 genome.wustl.edu 37 10 76854516 76854516 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 76854516 76854516 C T SNP DUSP13 ENST00000491677 human ensembl 74_37 -1 known missense c.902 p.R301H 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP13 HGNC ENSG00000079393 34 0 0 49 5 9.25926 KCNMA1 0 genome.wustl.edu 37 10 79163663 79163663 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 79163663 79163663 G A SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.497 p.A166V 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 45 0 0 40 12 23.0769 POLR3A 0 genome.wustl.edu 37 10 79759817 79759817 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 79759817 79759817 C T SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known silent c.2538 p.E846 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 77 0 0 74 9 10.8434 GATA3-AS1 0 genome.wustl.edu 37 10 8093088 8093088 + RNA SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 8093088 8093088 T C SNP GATA3-AS1 ENST00000355358 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GATA3-AS1 HGNC ENSG00000197308 30 0 0 28 6 17.6471 MAT1A 0 genome.wustl.edu 37 10 82036157 82036157 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 82036157 82036157 C A SNP MAT1A ENST00000372213 human ensembl 74_37 -1 known missense c.743 p.G248V 1.000 pfam_S-AdoMet_synt_central,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT1A HGNC ENSG00000151224 79 0 0 59 29 32.9545 NRG3 0 genome.wustl.edu 37 10 84711300 84711300 + Missense_Mutation SNP T T A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 84711300 84711300 T A SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.1130 p.F377Y 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 96 0 0 93 25 21.1864 LRIT2 0 genome.wustl.edu 37 10 85984212 85984212 + Missense_Mutation SNP T T A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 85984212 85984212 T A SNP LRIT2 ENST00000538192 human ensembl 74_37 -1 known missense c.769 p.T257S 0.990 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT2 HGNC ENSG00000204033 93 0 0 93 34 26.7717 BMPR1A 0 genome.wustl.edu 37 10 88676991 88676991 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 88676991 88676991 C T SNP BMPR1A ENST00000372037 human ensembl 74_37 +1 known missense c.776 p.A259V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR1A HGNC ENSG00000107779 39 0 0 32 7 17.9487 MMRN2 0 genome.wustl.edu 37 10 88703570 88703570 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 88703570 88703570 C T SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known missense c.971 p.R324H 0.000 NULL pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 69 0 0 69 17 19.7674 RNLS 0 genome.wustl.edu 37 10 90122339 90122339 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 90122339 90122339 C T SNP RNLS ENST00000331772 human ensembl 74_37 -1 known missense c.670 p.V224I 0.966 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors RNLS HGNC ENSG00000184719 79 0 0 78 12 13.3333 MYOF 0 genome.wustl.edu 37 10 95119625 95119625 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 95119625 95119625 T C SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.3085 p.K1029E 1.000 smart_Peroxin/Ferlin pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 101 0 0 109 22 16.7939 TLL2 0 genome.wustl.edu 37 10 98127887 98127887 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 98127887 98127887 G A SNP TLL2 ENST00000357947 human ensembl 74_37 -1 known silent c.3006 p.Y1002 1.000 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors TLL2 HGNC ENSG00000095587 53 0 0 50 12 19.3548 RRP12 0 genome.wustl.edu 37 10 99132890 99132890 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 99132890 99132890 C T SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known silent c.2094 p.G698 0.986 superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 61 0 0 73 15 17.0455 MUC6 0 genome.wustl.edu 37 11 1021246 1021246 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 1021246 1021246 G A SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known silent c.3558 p.F1186 0.996 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 30 0 0 22 5 18.5185 CASP5 0 genome.wustl.edu 37 11 104871047 104871047 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 104871047 104871047 C T SNP CASP5 ENST00000393141 human ensembl 74_37 -1 known missense c.932 p.R311H 0.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 131 0 0 145 37 20.3297 NPAT 0 genome.wustl.edu 37 11 108044093 108044093 + Missense_Mutation SNP A A T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 108044093 108044093 A T SNP NPAT ENST00000278612 human ensembl 74_37 -1 known missense c.1618 p.L540I 0.009 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 45 0 0 46 17 26.9841 C11orf65 0 genome.wustl.edu 37 11 108277840 108277840 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 108277840 108277840 G A SNP C11orf65 ENST00000393084 human ensembl 74_37 -1 known nonsense c.211 p.R71* 0.998 NULL NULL - no_errors C11orf65 HGNC ENSG00000166323 29 0 0 17 5 22.7273 DLAT 0 genome.wustl.edu 37 11 111896976 111896976 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 111896976 111896976 G A SNP DLAT ENST00000280346 human ensembl 74_37 +1 known missense c.334 p.E112K 1.000 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_LAT1 - no_errors DLAT HGNC ENSG00000150768 12 0 0 19 5 20.8333 ZW10 0 genome.wustl.edu 37 11 113604435 113604435 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 113604435 113604435 G A SNP ZW10 ENST00000200135 human ensembl 74_37 -1 known missense c.2321 p.A774V 1.000 NULL pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 84 0 0 87 27 23.6842 DSCAML1 0 genome.wustl.edu 37 11 117374651 117374651 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 117374651 117374651 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.2448 p.H816 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 100 0 0 102 18 15 BCL9L 0 genome.wustl.edu 37 11 118779017 118779017 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 118779017 118779017 C T SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.374 p.R125Q 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 59 0 0 53 19 26.3889 C2CD2L 0 genome.wustl.edu 37 11 118984640 118984640 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 118984640 118984640 G A SNP C2CD2L ENST00000336702 human ensembl 74_37 +1 known missense c.1568 p.R523Q 1.000 NULL superfamily_C2_dom - no_errors C2CD2L HGNC ENSG00000172375 86 0 0 53 21 28.3784 GRIK4 0 genome.wustl.edu 37 11 120837934 120837934 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 120837934 120837934 C T SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.2297 p.A766V 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 44 0 0 41 7 14.5833 CLMP 0 genome.wustl.edu 37 11 122944457 122944457 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 122944457 122944457 G A SNP CLMP ENST00000448775 human ensembl 74_37 -1 known missense c.847 p.R283C 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD47_Vset,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CLMP HGNC ENSG00000166250 118 0 0 107 26 19.5489 OR10G9 0 genome.wustl.edu 37 11 123894395 123894395 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 123894395 123894395 C T SNP OR10G9 ENST00000375024 human ensembl 74_37 +1 known missense c.676 p.R226W 0.020 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G9 HGNC ENSG00000236981 80 0 0 114 29 20.2797 ARHGAP32 0 genome.wustl.edu 37 11 128840296 128840296 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 128840296 128840296 C T SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known silent c.4770 p.P1590 0.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 64 0 0 73 17 18.8889 ST14 0 genome.wustl.edu 37 11 130066524 130066524 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 130066524 130066524 G A SNP ST14 ENST00000278742 human ensembl 74_37 +1 known missense c.1283 p.R428H 0.000 pirsf_Peptidase_S1A_matripase,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors ST14 HGNC ENSG00000149418 93 0 0 78 26 25 IGSF9B 0 genome.wustl.edu 37 11 133789967 133789967 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 133789967 133789967 A G SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known missense c.3653 p.L1218P 0.997 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 99 0 0 68 21 23.5955 ACAD8 0 genome.wustl.edu 37 11 134131676 134131676 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 134131676 134131676 C T SNP ACAD8 ENST00000281182 human ensembl 74_37 +1 known silent c.984 p.A328 0.960 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACAD8 HGNC ENSG00000151498 47 0 0 45 7 13.4615 SPON1 0 genome.wustl.edu 37 11 14284449 14284449 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 14284449 14284449 C T SNP SPON1 ENST00000310358 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPON1 HGNC ENSG00000152268 48 0 0 53 18 25.3521 DUSP8 0 genome.wustl.edu 37 11 1579342 1579342 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 1579342 1579342 C T SNP DUSP8 ENST00000331588 human ensembl 74_37 -1 known missense c.697 p.D233N 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP8 HGNC ENSG00000184545 305 0 0 243 65 21.1039 PLEKHA7 0 genome.wustl.edu 37 11 16812676 16812676 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 16812676 16812676 G A SNP PLEKHA7 ENST00000448080 human ensembl 74_37 -1 known missense c.2819 p.P940L 1.000 NULL pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA7 HGNC ENSG00000166689 44 0 0 74 27 26.7327 KCNJ11 0 genome.wustl.edu 37 11 17409064 17409064 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 17409064 17409064 C T SNP KCNJ11 ENST00000339994 human ensembl 74_37 -1 known missense c.575 p.R192H 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.2 - no_errors KCNJ11 HGNC ENSG00000187486 22 0 0 26 4 13.3333 MYOD1 0 genome.wustl.edu 37 11 17741551 17741551 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 17741551 17741551 C T SNP MYOD1 ENST00000250003 human ensembl 74_37 +1 known silent c.222 p.G74 0.988 pfam_Basic,smart_Basic pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYOD1 HGNC ENSG00000129152 10 0 0 15 14 48.2759 MRGPRX3 0 genome.wustl.edu 37 11 18158906 18158906 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 18158906 18158906 G T SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known missense c.157 p.G53C 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 128 0 0 142 35 19.774 MRGPRX4 0 genome.wustl.edu 37 11 18194972 18194972 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 18194972 18194972 C T SNP MRGPRX4 ENST00000314254 human ensembl 74_37 +1 known missense c.169 p.R57C 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX4 HGNC ENSG00000179817 100 0 0 125 10 7.40741 TNNT3 0 genome.wustl.edu 37 11 1955842 1955842 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 1955842 1955842 C T SNP TNNT3 ENST00000397301 human ensembl 74_37 +1 known missense c.580 p.R194C 1.000 pfam_Troponin pfam_Troponin - no_errors TNNT3 HGNC ENSG00000130595 21 0 0 13 7 35 TH 0 genome.wustl.edu 37 11 2187733 2187733 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 2187733 2187733 G T SNP TH ENST00000381178 human ensembl 74_37 -1 known missense c.1117 p.R373S 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Tyr_3_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase - no_errors TH HGNC ENSG00000180176 22 0 0 21 6 22.2222 LUZP2 0 genome.wustl.edu 37 11 25004757 25004757 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 25004757 25004757 T C SNP LUZP2 ENST00000336930 human ensembl 74_37 +1 known missense c.683 p.L228S 0.412 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 119 0 0 110 20 15.3846 DCDC1 0 genome.wustl.edu 37 11 30937104 30937104 + Nonsense_Mutation SNP T T A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 30937104 30937104 T A SNP DCDC1 ENST00000339794 human ensembl 74_37 -1 known nonsense c.844 p.K282* 0.975 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 76 0 0 106 16 13.1148 QSER1 0 genome.wustl.edu 37 11 32979423 32979423 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 32979423 32979423 A G SNP QSER1 ENST00000399302 human ensembl 74_37 +1 known missense c.4373 p.Q1458R 0.831 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 47 0 0 52 8 13.3333 ABTB2 0 genome.wustl.edu 37 11 34192577 34192577 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 34192577 34192577 C T SNP ABTB2 ENST00000435224 human ensembl 74_37 -1 known missense c.1439 p.R480Q 1.000 NULL pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 69 0 0 61 12 16.4384 APIP 0 genome.wustl.edu 37 11 34916648 34916648 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 34916648 34916648 G A SNP APIP ENST00000278359 human ensembl 74_37 -1 known missense c.118 p.H40Y 1.000 superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N,tigrfam_MethylthioRu-1-P_deHdtase_MtnB - no_errors APIP HGNC ENSG00000149089 70 0 0 110 10 8.33333 FJX1 0 genome.wustl.edu 37 11 35641227 35641227 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 35641227 35641227 G A SNP FJX1 ENST00000317811 human ensembl 74_37 +1 known missense c.1043 p.R348Q 1.000 pfam_DUF1193 pfam_DUF1193 - no_errors FJX1 HGNC ENSG00000179431 21 0 0 14 6 30 B4GALNT4 0 genome.wustl.edu 37 11 380009 380009 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 380009 380009 C T SNP B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known missense c.2632 p.R878C 0.120 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 109 0 0 85 11 11.4583 ARHGAP1 0 genome.wustl.edu 37 11 46709742 46709742 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 46709742 46709742 C T SNP ARHGAP1 ENST00000311956 human ensembl 74_37 -1 known missense c.298 p.D100N 1.000 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP1 HGNC ENSG00000175220 25 0 0 22 3 12 SLC39A13 0 genome.wustl.edu 37 11 47431843 47431843 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 47431843 47431843 C T SNP SLC39A13 ENST00000362021 human ensembl 74_37 +1 known silent c.198 p.D66 0.999 pfam_ZIP pfam_ZIP - no_errors SLC39A13 HGNC ENSG00000165915 64 0 0 49 16 24.6154 OR4A5 0 genome.wustl.edu 37 11 51412089 51412089 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 51412089 51412089 G A SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known missense c.307 p.H103Y 0.436 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 OR4A5 HGNC ENSG00000221840 66 0 0 55 16 22.5352 OR51Q1 0 genome.wustl.edu 37 11 5444082 5444082 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 5444082 5444082 A G SNP OR51Q1 ENST00000300778 human ensembl 74_37 +1 known missense c.652 p.I218V 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51Q1 HGNC ENSG00000167360 132 0 0 125 33 20.8861 OR4C15 0 genome.wustl.edu 37 11 55322675 55322675 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 55322675 55322675 C T SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.893 p.A298V 0.059 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 128 0 0 141 41 22.5275 OR5T2 0 genome.wustl.edu 37 11 56000375 56000375 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 56000375 56000375 T C SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known missense c.287 p.K96R 0.048 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 53 0 0 68 12 15 OR10Q1 0 genome.wustl.edu 37 11 57995473 57995473 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 57995473 57995473 G A SNP OR10Q1 ENST00000316770 human ensembl 74_37 -1 known missense c.875 p.P292L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Q1 HGNC ENSG00000180475 117 0 0 132 13 8.96552 OR56A4 0 genome.wustl.edu 37 11 6023294 6023294 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 6023294 6023294 A G SNP OR56A4 ENST00000330728 human ensembl 74_37 -1 known missense c.1085 p.L362P 0.062 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A4 HGNC ENSG00000183389 42 0 0 40 10 20 DDB1 0 genome.wustl.edu 37 11 61090508 61090508 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 61090508 61090508 C T SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known missense c.980 p.R327H 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 20 0 0 19 4 17.3913 SYT7 0 genome.wustl.edu 37 11 61295431 61295431 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 61295431 61295431 C T SNP SYT7 ENST00000263846 human ensembl 74_37 -1 known missense c.578 p.R193Q 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 111 0 0 89 28 23.9316 RPLP0P2 0 genome.wustl.edu 37 11 61404412 61404412 + RNA SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 61404412 61404412 C A SNP RPLP0P2 ENST00000496593 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPLP0P2 HGNC ENSG00000243742 47 0 0 39 12 23.5294 MYRF 0 genome.wustl.edu 37 11 61547695 61547695 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 61547695 61547695 G A SNP MYRF ENST00000278836 human ensembl 74_37 +1 known missense c.2338 p.V780M 1.000 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 33 0 0 19 4 17.3913 AHNAK 0 genome.wustl.edu 37 11 62298376 62298376 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 62298376 62298376 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.3513 p.L1171 0.154 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 236 0 0 224 57 20.2847 AHNAK 0 genome.wustl.edu 37 11 62298897 62298897 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 62298897 62298897 T C SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.2992 p.M998V 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 179 0 0 163 37 18.5 C11orf42 0 genome.wustl.edu 37 11 6232266 6232266 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 6232266 6232266 C T SNP C11orf42 ENST00000316375 human ensembl 74_37 +1 known silent c.996 p.D332 1.000 NULL NULL - no_errors C11orf42 HGNC ENSG00000180878 55 0 0 68 5 6.84932 C11orf48 0 genome.wustl.edu 37 11 62430741 62430741 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 62430741 62430741 G A SNP C11orf48 ENST00000431002 human ensembl 74_37 -1 known missense c.806 p.P269L 1.000 NULL NULL - no_errors C11orf48 HGNC ENSG00000162194 86 0 0 72 12 14.2857 LRRN4CL 0 genome.wustl.edu 37 11 62455493 62455493 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 62455493 62455493 C T SNP LRRN4CL ENST00000317449 human ensembl 74_37 -1 known missense c.488 p.R163H 0.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4CL HGNC ENSG00000177363 54 0 0 40 6 13.0435 DRD4 0 genome.wustl.edu 37 11 639854 639854 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 639854 639854 T C SNP DRD4 ENST00000176183 human ensembl 74_37 +1 known missense c.605 p.F202S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D4_rcpt,prints_Dopamine_rcpt - no_errors DRD4 HGNC ENSG00000069696 73 0 0 62 16 20.5128 PPP1R14B 0 genome.wustl.edu 37 11 64013998 64013998 + Missense_Mutation SNP C C G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 64013998 64013998 C G SNP PPP1R14B ENST00000309318 human ensembl 74_37 -1 known missense c.148 p.V50L 1.000 pfam_PP1_inhibitor,superfamily_PP1_inhibitor pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14B HGNC ENSG00000173457 31 0 0 19 4 17.3913 SLC22A11 0 genome.wustl.edu 37 11 64336241 64336241 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 64336241 64336241 C T SNP SLC22A11 ENST00000301891 human ensembl 74_37 +1 known missense c.1373 p.T458M 0.182 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A11 HGNC ENSG00000168065 88 0 0 61 15 19.7368 NRXN2 0 genome.wustl.edu 37 11 64415706 64415706 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 64415706 64415706 G T SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.3388 p.P1130T 1.000 superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 106 0 0 119 7 5.55556 AP5B1 0 genome.wustl.edu 37 11 65546370 65546370 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 65546370 65546370 C A SNP AP5B1 ENST00000532090 human ensembl 74_37 -1 novel missense c.1594 p.G532C 0.005 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 32 0 0 33 8 19.5122 GAL3ST3 0 genome.wustl.edu 37 11 65810901 65810901 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 65810901 65810901 C T SNP GAL3ST3 ENST00000312006 human ensembl 74_37 -1 known missense c.373 p.V125M 0.979 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST3 HGNC ENSG00000175229 36 0 0 35 13 27.0833 BRMS1 0 genome.wustl.edu 37 11 66105143 66105143 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 66105143 66105143 C T SNP BRMS1 ENST00000425825 human ensembl 74_37 -1 known missense c.869 p.S290N 0.022 NULL pfam_Sds3 - no_errors BRMS1 HGNC ENSG00000174744 9 0 0 9 3 25 BBS1 0 genome.wustl.edu 37 11 66293622 66293622 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 66293622 66293622 G A SNP BBS1 ENST00000419755 human ensembl 74_37 +1 known missense c.1250 p.R417Q 1.000 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam - no_errors CTD-3074O7.11 Clone_based_vega_gene ENSG00000256349 58 0 0 54 20 27.027 CCS 0 genome.wustl.edu 37 11 66372848 66372848 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 66372848 66372848 C T SNP CCS ENST00000530961 human ensembl 74_37 +1 known missense c.713 p.T238M 0.599 NULL pfam_SOD_Cu_Zn_dom,pfam_HeavyMe-assoc_HMA,superfamily_SOD_Cu_Zn_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA - no_errors CCS HGNC ENSG00000173992 57 0 0 38 6 13.6364 CCS 0 genome.wustl.edu 37 11 66373195 66373195 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 66373195 66373195 C T SNP CCS ENST00000533244 human ensembl 74_37 +1 known missense c.694 p.R232C 1.000 superfamily_SOD_Cu_Zn_dom pfam_SOD_Cu_Zn_dom,pfam_HeavyMe-assoc_HMA,superfamily_SOD_Cu_Zn_dom,superfamily_HeavyMe-assoc_HMA,prints_SOD_Cu_Zn_dom,pfscan_HeavyMe-assoc_HMA - no_errors CCS HGNC ENSG00000173992 58 0 0 47 14 22.9508 LRFN4 0 genome.wustl.edu 37 11 66626495 66626495 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 66626495 66626495 G A SNP LRFN4 ENST00000309602 human ensembl 74_37 +1 known missense c.1280 p.R427Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN4 HGNC ENSG00000173621 162 0 0 122 46 27.381 PITPNM1 0 genome.wustl.edu 37 11 67266123 67266123 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 67266123 67266123 C T SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known silent c.1428 p.A476 0.452 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 119 0 0 108 21 16.2791 C11orf72 0 genome.wustl.edu 37 11 67372123 67372123 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 67372123 67372123 T G SNP C11orf72 ENST00000333139 human ensembl 74_37 -1 known missense c.418 p.S140R 0.000 NULL NULL - no_errors C11orf72 HGNC ENSG00000184224 9 0 0 7 4 36.3636 NDUFV1 0 genome.wustl.edu 37 11 67377010 67377010 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 67377010 67377010 G A SNP NDUFV1 ENST00000322776 human ensembl 74_37 +1 known silent c.414 p.L138 1.000 pfam_NADH_UbQ_OxRdtase_51kDa_su,tigrfam_NADH-UbQ_OxRdtase_suF pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF - no_errors NDUFV1 HGNC ENSG00000167792 239 0 0 207 59 22.1805 LRP5 0 genome.wustl.edu 37 11 68115451 68115451 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 68115451 68115451 C A SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known silent c.228 p.A76 0.929 pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 155 0 0 101 40 28.3688 NADSYN1 0 genome.wustl.edu 37 11 71202892 71202892 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 71202892 71202892 G A SNP NADSYN1 ENST00000319023 human ensembl 74_37 +1 known silent c.1707 p.A569 0.729 pfam_NAD/GMP_synthase,pirsf_Gln-dep_NAD_synthase,tigrfam_NAD_synthase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC ENSG00000172890 57 0 0 60 9 13.0435 NUMA1 0 genome.wustl.edu 37 11 71740259 71740259 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 71740259 71740259 A G SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known silent c.120 p.I40 0.991 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 41 0 0 50 6 10.7143 INPPL1 0 genome.wustl.edu 37 11 71946964 71946964 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 71946964 71946964 C T SNP INPPL1 ENST00000298229 human ensembl 74_37 +1 known missense c.2813 p.P938L 0.995 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 62 0 0 62 25 28.7356 PHOX2A 0 genome.wustl.edu 37 11 71952223 71952223 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 71952223 71952223 C T SNP PHOX2A ENST00000298231 human ensembl 74_37 -1 known missense c.328 p.A110T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PHOX2A HGNC ENSG00000165462 60 0 0 63 16 20.2532 P2RY2 0 genome.wustl.edu 37 11 72945484 72945484 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 72945484 72945484 G A SNP P2RY2 ENST00000311131 human ensembl 74_37 +1 known missense c.280 p.A94T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y2_rcpt,prints_GPCR_Rhodpsn,prints_P2Y4_rcpt - no_errors P2RY2 HGNC ENSG00000175591 66 0 0 81 16 16.4948 LRRC32 0 genome.wustl.edu 37 11 76371763 76371763 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 76371763 76371763 C T SNP LRRC32 ENST00000260061 human ensembl 74_37 -1 known missense c.874 p.A292T 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 59 0 0 51 10 16.3934 TALDO1 0 genome.wustl.edu 37 11 764817 764817 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 764817 764817 G A SNP TALDO1 ENST00000319006 human ensembl 74_37 +1 known missense c.986 p.R329Q 0.007 tigrfam_Transaldolase_1 pfam_Transaldolase,tigrfam_Transaldolase_1 - no_errors TALDO1 HGNC ENSG00000177156 125 0 0 107 23 17.6923 MYO7A 0 genome.wustl.edu 37 11 76885962 76885962 + Splice_Site SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 76885962 76885962 T C SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known splice_site c.2094+2 e16+2 0.997 - - - no_errors MYO7A HGNC ENSG00000137474 61 0 0 39 14 26.4151 GAB2 0 genome.wustl.edu 37 11 77933207 77933207 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 77933207 77933207 G A SNP GAB2 ENST00000361507 human ensembl 74_37 -1 known silent c.1602 p.T534 0.013 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 55 0 0 44 14 24.1379 DLG2 0 genome.wustl.edu 37 11 83344296 83344296 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 83344296 83344296 G A SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.1898 p.S633F 1.000 superfamily_SH3_domain,pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 32 0 0 36 4 10 PICALM 0 genome.wustl.edu 37 11 85694909 85694909 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 85694909 85694909 C T SNP PICALM ENST00000393346 human ensembl 74_37 -1 known missense c.1516 p.G506S 1.000 NULL pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors PICALM HGNC ENSG00000073921 19 0 0 20 3 13.0435 CTSC 0 genome.wustl.edu 37 11 88027629 88027629 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 88027629 88027629 C T SNP CTSC ENST00000227266 human ensembl 74_37 -1 known missense c.937 p.D313N 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_CathepsinC_exc,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSC HGNC ENSG00000109861 60 0 0 69 15 17.8571 CHORDC1 0 genome.wustl.edu 37 11 89951324 89951324 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 89951324 89951324 C T SNP CHORDC1 ENST00000320585 human ensembl 74_37 -1 known silent c.93 p.P31 0.994 pfam_CHORD pfam_CHORD,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors CHORDC1 HGNC ENSG00000110172 22 0 0 24 3 11.1111 DENND5A 0 genome.wustl.edu 37 11 9225550 9225550 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 9225550 9225550 G A SNP DENND5A ENST00000328194 human ensembl 74_37 -1 known silent c.606 p.Y202 0.965 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 48 0 0 56 12 17.6471 FAT3 0 genome.wustl.edu 37 11 92600150 92600150 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 92600150 92600150 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.11902 p.R3968C 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 20 0 0 21 4 16 IPO7 0 genome.wustl.edu 37 11 9431557 9431557 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 9431557 9431557 T G SNP IPO7 ENST00000379719 human ensembl 74_37 +1 known missense c.403 p.F135V 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ENSG00000205339 61 0 0 63 21 25 AMOTL1 0 genome.wustl.edu 37 11 94554825 94554825 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 94554825 94554825 T C SNP AMOTL1 ENST00000433060 human ensembl 74_37 +1 known silent c.1251 p.A417 0.166 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 40 0 0 35 10 22.2222 MAML2 0 genome.wustl.edu 37 11 95825914 95825914 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 95825914 95825914 C T SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known nonsense c.1281 p.W427* 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 54 0 0 52 23 30.6667 AP2A2 0 genome.wustl.edu 37 11 988612 988612 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 988612 988612 C T SNP AP2A2 ENST00000332231 human ensembl 74_37 +1 known missense c.1195 p.R399C 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 208 1 0.478469 187 52 21.7573 NUP37 0 genome.wustl.edu 37 12 102471194 102471194 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 102471194 102471194 G A SNP NUP37 ENST00000251074 human ensembl 74_37 -1 known missense c.628 p.P210S 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NUP37 HGNC ENSG00000075188 82 0 0 98 23 19.0083 GLT8D2 0 genome.wustl.edu 37 12 104388145 104388145 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 104388145 104388145 C T SNP GLT8D2 ENST00000360814 human ensembl 74_37 -1 known silent c.735 p.K245 0.947 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D2 HGNC ENSG00000120820 32 0 0 42 18 30 BTBD11 0 genome.wustl.edu 37 12 107713778 107713778 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 107713778 107713778 C T SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.1061 p.T354M 1.000 superfamily_Histone-fold pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 36 0 0 30 13 30.2326 SART3 0 genome.wustl.edu 37 12 108926084 108926084 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 108926084 108926084 C T SNP SART3 ENST00000228284 human ensembl 74_37 -1 known missense c.1583 p.R528Q 1.000 NULL pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 57 0 0 62 17 21.519 TMEM119 0 genome.wustl.edu 37 12 108985651 108985651 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 108985651 108985651 C T SNP TMEM119 ENST00000392806 human ensembl 74_37 -1 known missense c.509 p.R170Q 0.744 NULL NULL - no_errors TMEM119 HGNC ENSG00000183160 56 0 0 59 14 19.1781 ACACB 0 genome.wustl.edu 37 12 109703292 109703292 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 109703292 109703292 G A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known silent c.7212 p.T2404 1.000 NULL 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,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 ACACB HGNC ENSG00000076555 24 0 0 26 4 13.3333 UBE3B 0 genome.wustl.edu 37 12 109961809 109961809 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 109961809 109961809 A G SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known silent c.2391 p.A797 0.542 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 185 0 0 160 36 18.3673 UBE3B 0 genome.wustl.edu 37 12 109972445 109972445 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 109972445 109972445 G A SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.3065 p.R1022H 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 84 0 0 77 19 19.7917 TCHP 0 genome.wustl.edu 37 12 110350854 110350854 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 110350854 110350854 G A SNP TCHP ENST00000312777 human ensembl 74_37 +1 known missense c.1111 p.A371T 0.990 NULL NULL - no_errors TCHP HGNC ENSG00000139437 72 0 0 66 10 13.1579 GIT2 0 genome.wustl.edu 37 12 110397663 110397663 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 110397663 110397663 G A SNP GIT2 ENST00000355312 human ensembl 74_37 -1 known missense c.1088 p.S363L 0.695 NULL pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT2 HGNC ENSG00000139436 31 0 0 38 8 17.3913 TPCN1 0 genome.wustl.edu 37 12 113728027 113728027 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 113728027 113728027 G A SNP TPCN1 ENST00000541517 human ensembl 74_37 +1 known missense c.2107 p.D703N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TPCN1 HGNC ENSG00000186815 18 0 0 7 3 30 HNF1A 0 genome.wustl.edu 37 12 121438947 121438947 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 121438947 121438947 C T SNP HNF1A ENST00000257555 human ensembl 74_37 +1 known silent c.1848 p.S616 0.000 pfam_HNF1a_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 41 0 0 36 9 20 KDM2B 0 genome.wustl.edu 37 12 121881881 121881881 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 121881881 121881881 A G SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known silent c.2385 p.S795 0.001 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 200 0 0 168 36 17.6471 WDR66 0 genome.wustl.edu 37 12 122361764 122361764 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 122361764 122361764 C T SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known silent c.615 p.N205 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 79 0 0 77 13 14.4444 ZCCHC8 0 genome.wustl.edu 37 12 122958812 122958812 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 122958812 122958812 T C SNP ZCCHC8 ENST00000336229 human ensembl 74_37 -1 known silent c.1356 p.V452 0.000 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 94 0 0 82 20 19.6078 ARL6IP4 0 genome.wustl.edu 37 12 123466540 123466540 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 123466540 123466540 T C SNP ARL6IP4 ENST00000315580 human ensembl 74_37 +1 known missense c.875 p.M292T 1.000 pfam_Nucl_RNA-splicing_assoc_SR-25 pfam_Nucl_RNA-splicing_assoc_SR-25 - no_errors ARL6IP4 HGNC ENSG00000182196 66 0 0 45 14 23.7288 NCOR2 0 genome.wustl.edu 37 12 124821509 124821509 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 124821509 124821509 C T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.5926 p.A1976T 0.293 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 16 0 0 18 3 14.2857 NCOR2 0 genome.wustl.edu 37 12 124887049 124887049 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 124887049 124887049 C T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.1541 p.R514H 0.995 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 19 0 0 14 5 26.3158 SCARB1 0 genome.wustl.edu 37 12 125279752 125279752 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 125279752 125279752 G A SNP SCARB1 ENST00000415380 human ensembl 74_37 -1 known silent c.1191 p.V397 0.000 pfam_CD36 pfam_CD36,prints_CD36,prints_CD36_antigen - no_errors SCARB1 HGNC ENSG00000073060 181 1 0.549451 170 47 21.659 RIMBP2 0 genome.wustl.edu 37 12 130922927 130922927 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 130922927 130922927 A G SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.1588 p.Y530H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 43 0 0 42 10 19.2308 EP400 0 genome.wustl.edu 37 12 132528749 132528749 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 132528749 132528749 T C SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.6586 p.W2196R 0.982 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 72 0 0 79 7 8.13953 GRIN2B 0 genome.wustl.edu 37 12 13715900 13715900 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 13715900 13715900 A G SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known silent c.4272 p.L1424 0.989 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 51 0 0 54 16 22.8571 CACNA2D4 0 genome.wustl.edu 37 12 2017138 2017138 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 2017138 2017138 G A SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known silent c.552 p.G184 0.910 pfam_VWA_N pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 74 0 0 64 26 28.8889 ITPR2 0 genome.wustl.edu 37 12 26572103 26572103 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 26572103 26572103 C T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.6989 p.R2330H 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 44 0 0 64 18 21.9512 ITPR2 0 genome.wustl.edu 37 12 26750044 26750044 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 26750044 26750044 C T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known silent c.4026 p.V1342 1.000 pfam_Ca-rel_channel,superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 122 0 0 123 28 18.543 CACNA1C 0 genome.wustl.edu 37 12 2676929 2676929 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 2676929 2676929 G A SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.1864 p.V622I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 26 0 0 24 6 20 FAR2 0 genome.wustl.edu 37 12 29474809 29474809 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 29474809 29474809 G A SNP FAR2 ENST00000182377 human ensembl 74_37 +1 known silent c.1209 p.T403 0.007 pfam_FAR pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 64 0 0 88 12 12 KDM5A 0 genome.wustl.edu 37 12 416769 416769 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 416769 416769 G A SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known missense c.3781 p.R1261W 0.998 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 77 0 0 93 30 24.3902 ANO6 0 genome.wustl.edu 37 12 45810550 45810550 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 45810550 45810550 A G SNP ANO6 ENST00000425752 human ensembl 74_37 +1 known missense c.2080 p.N694D 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 35 0 0 43 8 15.6863 COL2A1 0 genome.wustl.edu 37 12 48387250 48387250 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 48387250 48387250 C T SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known silent c.960 p.P320 0.767 NULL 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 57 0 0 52 14 21.2121 OR8S1 0 genome.wustl.edu 37 12 48921844 48921844 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 48921844 48921844 C T SNP OR8S1 ENST00000310194 human ensembl 74_37 +1 known silent c.1038 p.C346 0.049 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8S1 HGNC ENSG00000197376 14 0 0 16 5 23.8095 KRT85 0 genome.wustl.edu 37 12 52758883 52758883 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 52758883 52758883 G A SNP KRT85 ENST00000257901 human ensembl 74_37 -1 known silent c.492 p.C164 0.066 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 89 0 0 97 11 10.1852 KRT85 0 genome.wustl.edu 37 12 52760962 52760962 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 52760962 52760962 G A SNP KRT85 ENST00000257901 human ensembl 74_37 -1 known silent c.228 p.C76 0.099 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 79 0 0 67 33 33 KRT3 0 genome.wustl.edu 37 12 53189685 53189685 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 53189685 53189685 C T SNP KRT3 ENST00000309505 human ensembl 74_37 -1 known missense c.142 p.G48R 0.776 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT3 HGNC ENSG00000186442 149 0 0 119 29 19.5946 HOXC12 0 genome.wustl.edu 37 12 54348983 54348983 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 54348983 54348983 C T SNP HOXC12 ENST00000243103 human ensembl 74_37 +1 known silent c.270 p.D90 0.995 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC12 HGNC ENSG00000123407 22 0 0 28 8 22.2222 HOXC8 0 genome.wustl.edu 37 12 54403314 54403314 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 54403314 54403314 C T SNP HOXC8 ENST00000040584 human ensembl 74_37 +1 known silent c.246 p.H82 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors HOXC8 HGNC ENSG00000037965 334 0 0 278 65 18.9504 HOXC8 0 genome.wustl.edu 37 12 54403315 54403315 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 54403315 54403315 G A SNP HOXC8 ENST00000040584 human ensembl 74_37 +1 known missense c.247 p.G83R 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors HOXC8 HGNC ENSG00000037965 334 0 0 270 75 21.7391 PAN2 0 genome.wustl.edu 37 12 56721241 56721241 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 56721241 56721241 G A SNP PAN2 ENST00000425394 human ensembl 74_37 -1 known missense c.826 p.R276C 1.000 superfamily_WD40_repeat_dom pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67 - no_errors PAN2 HGNC ENSG00000135473 65 0 0 60 17 22.0779 LRP1 0 genome.wustl.edu 37 12 57584745 57584745 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 57584745 57584745 A G SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.7189 p.T2397A 1.000 pfam_LDLR_classB_rpt,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 35 0 0 39 13 25 CHD4 0 genome.wustl.edu 37 12 6702659 6702659 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 6702659 6702659 G A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.2437 p.R813C 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 107 0 0 115 24 17.2662 ING4 0 genome.wustl.edu 37 12 6761828 6761828 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 6761828 6761828 G A SNP ING4 ENST00000396807 human ensembl 74_37 -1 known missense c.500 p.T167I 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING4 HGNC ENSG00000111653 112 0 0 121 33 21.4286 ING4 0 genome.wustl.edu 37 12 6761832 6761832 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 6761832 6761832 G A SNP ING4 ENST00000396807 human ensembl 74_37 -1 known missense c.496 p.R166C 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING4 HGNC ENSG00000111653 119 0 0 145 15 9.375 LAG3 0 genome.wustl.edu 37 12 6887523 6887523 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 6887523 6887523 G A SNP LAG3 ENST00000203629 human ensembl 74_37 +1 known silent c.1545 p.E515 0.000 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors LAG3 HGNC ENSG00000089692 113 0 0 80 25 23.8095 LAG3 0 genome.wustl.edu 37 12 6887526 6887526 + Silent SNP C C G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 6887526 6887526 C G SNP LAG3 ENST00000203629 human ensembl 74_37 +1 known silent c.1548 p.P516 0.000 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors LAG3 HGNC ENSG00000089692 117 0 0 79 27 25.4717 NUP107 0 genome.wustl.edu 37 12 69084528 69084528 + Splice_Site SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 69084528 69084528 T C SNP NUP107 ENST00000229179 human ensembl 74_37 +1 known splice_site c.303+2 e4+2 1.000 - - - no_errors NUP107 HGNC ENSG00000111581 62 0 0 60 14 18.9189 PTPRB 0 genome.wustl.edu 37 12 70948992 70948992 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 70948992 70948992 G A SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known silent c.5091 p.S1697 0.985 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 53 0 0 54 19 26.0274 PEX5 0 genome.wustl.edu 37 12 7362639 7362639 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 7362639 7362639 G A SNP PEX5 ENST00000434354 human ensembl 74_37 +1 known silent c.1785 p.L595 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5 HGNC ENSG00000139197 41 0 0 33 8 19.5122 CD163L1 0 genome.wustl.edu 37 12 7551003 7551003 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 7551003 7551003 G A SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.1586 p.T529I 0.012 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 127 0 0 130 37 22.1557 GDF3 0 genome.wustl.edu 37 12 7848210 7848210 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 7848210 7848210 G A SNP GDF3 ENST00000329913 human ensembl 74_37 -1 known missense c.115 p.P39S 0.268 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF3 HGNC ENSG00000184344 32 0 0 26 7 21.2121 SYT1 0 genome.wustl.edu 37 12 79611356 79611356 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 79611356 79611356 G A SNP SYT1 ENST00000261205 human ensembl 74_37 +1 known silent c.57 p.A19 0.025 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT1 HGNC ENSG00000067715 57 0 0 48 5 9.43396 ZNF705A 0 genome.wustl.edu 37 12 8329638 8329638 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 8329638 8329638 C T SNP ZNF705A ENST00000359286 human ensembl 74_37 +1 known missense c.362 p.S121L 1.000 pfscan_Znf_C2H2 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 ZNF705A HGNC ENSG00000196946 115 0 0 149 8 5.09554 A2M 0 genome.wustl.edu 37 12 9261917 9261917 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 9261917 9261917 A G SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.758 p.L253P 0.565 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 20 0 0 20 5 20 NUDT4 0 genome.wustl.edu 37 12 93793060 93793060 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 93793060 93793060 G A SNP NUDT4 ENST00000337179 human ensembl 74_37 +1 known missense c.451 p.A151T 0.993 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT4 HGNC ENSG00000173598 122 0 0 177 15 7.8125 FGF14 0 genome.wustl.edu 37 13 102375253 102375253 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 102375253 102375253 C T SNP FGF14 ENST00000376131 human ensembl 74_37 -1 known silent c.687 p.T229 0.998 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF14 HGNC ENSG00000102466 54 0 0 77 10 11.4943 CUL4A 0 genome.wustl.edu 37 13 113899470 113899470 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 113899470 113899470 C T SNP CUL4A ENST00000375440 human ensembl 74_37 +1 known silent c.1449 p.C483 0.991 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4A HGNC ENSG00000139842 56 0 0 38 14 26.9231 RASA3 0 genome.wustl.edu 37 13 114762033 114762033 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 114762033 114762033 C T SNP RASA3 ENST00000334062 human ensembl 74_37 -1 known silent c.2115 p.S705 0.000 pfam_Znf_Btk_motif,smart_Znf_Btk_motif,pfscan_Znf_Btk_motif,prints_Znf_Btk_motif pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 57 0 0 52 15 22.3881 SACS 0 genome.wustl.edu 37 13 23909033 23909033 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 23909033 23909033 A G SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.8982 p.P2994 0.997 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 85 0 0 78 12 13.3333 CENPJ 0 genome.wustl.edu 37 13 25486837 25486837 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 25486837 25486837 C T SNP CENPJ ENST00000381884 human ensembl 74_37 -1 known silent c.327 p.A109 0.000 NULL pfam_Tcp10_C_dom - no_errors CENPJ HGNC ENSG00000151849 76 0 0 78 20 20.4082 MTUS2 0 genome.wustl.edu 37 13 29608233 29608233 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 29608233 29608233 C T SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2447 p.A816V 0.177 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 47 0 0 62 10 13.8889 N4BP2L1 0 genome.wustl.edu 37 13 32981416 32981416 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 32981416 32981416 C T SNP N4BP2L1 ENST00000380130 human ensembl 74_37 -1 known missense c.367 p.A123T 1.000 pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase - no_errors N4BP2L1 HGNC ENSG00000139597 82 0 0 90 32 26.2295 NBEA 0 genome.wustl.edu 37 13 35619165 35619165 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 35619165 35619165 G A SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.608 p.R203Q 1.000 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 13 0 0 9 4 30.7692 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36776105 36776105 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 36776105 36776105 C T SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known silent c.405 p.A135 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 81 0 0 72 10 12.1951 FREM2 0 genome.wustl.edu 37 13 39424219 39424219 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 39424219 39424219 A C SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.6424 p.S2142R 0.978 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 58 0 0 63 21 25 FOXO1 0 genome.wustl.edu 37 13 41134524 41134524 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 41134524 41134524 G A SNP FOXO1 ENST00000379561 human ensembl 74_37 -1 known silent c.1104 p.P368 0.914 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO1 HGNC ENSG00000150907 191 0 0 199 49 19.7581 KBTBD7 0 genome.wustl.edu 37 13 41767067 41767067 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 41767067 41767067 G A SNP KBTBD7 ENST00000379483 human ensembl 74_37 -1 known nonsense c.1327 p.R443* 0.608 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD7 HGNC ENSG00000120696 90 0 0 97 32 24.8062 SPERT 0 genome.wustl.edu 37 13 46287584 46287584 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 46287584 46287584 C A SNP SPERT ENST00000310521 human ensembl 74_37 +1 known missense c.424 p.L142M 0.993 NULL NULL - no_errors SPERT HGNC ENSG00000174015 91 0 0 88 15 14.5631 ZC3H13 0 genome.wustl.edu 37 13 46539504 46539504 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 46539504 46539504 T C SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.4382 p.Y1461C 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 152 0 0 184 60 24.5902 CDADC1 0 genome.wustl.edu 37 13 49854811 49854811 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 49854811 49854811 C T SNP CDADC1 ENST00000251108 human ensembl 74_37 +1 known missense c.1387 p.L463F 1.000 NULL pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors CDADC1 HGNC ENSG00000102543 55 0 0 36 15 29.4118 DLEU7 0 genome.wustl.edu 37 13 51417426 51417426 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 51417426 51417426 G A SNP DLEU7 ENST00000504404 human ensembl 74_37 -1 known silent c.357 p.S119 0.999 NULL NULL - no_errors DLEU7 HGNC ENSG00000186047 20 0 0 22 6 21.4286 SCEL 0 genome.wustl.edu 37 13 78143516 78143516 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 78143516 78143516 G A SNP SCEL ENST00000349847 human ensembl 74_37 +1 known missense c.409 p.G137S 0.000 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 44 0 0 48 16 25 POU4F1 0 genome.wustl.edu 37 13 79177342 79177342 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 79177342 79177342 C T SNP POU4F1 ENST00000377208 human ensembl 74_37 -1 known silent c.120 p.P40 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F1 HGNC ENSG00000152192 22 0 0 19 10 34.4828 GPR180 0 genome.wustl.edu 37 13 95279412 95279412 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 95279412 95279412 G A SNP GPR180 ENST00000376958 human ensembl 74_37 +1 known missense c.1310 p.R437H 1.000 NULL pfam_Intimal_thickness-rel_rcpt,pfam_TM_rcpt_euk - no_errors GPR180 HGNC ENSG00000152749 38 0 0 51 11 17.7419 RNF113B 0 genome.wustl.edu 37 13 98828609 98828609 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 98828609 98828609 G A SNP RNF113B ENST00000267291 human ensembl 74_37 -1 known silent c.882 p.D294 1.000 pfscan_Znf_RING pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113B HGNC ENSG00000139797 151 0 0 147 41 21.8085 RNF113B 0 genome.wustl.edu 37 13 98828654 98828654 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 98828654 98828654 G A SNP RNF113B ENST00000267291 human ensembl 74_37 -1 known silent c.837 p.C279 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113B HGNC ENSG00000139797 160 0 0 155 44 22.1106 FARP1 0 genome.wustl.edu 37 13 99098451 99098451 + Missense_Mutation SNP T T A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 99098451 99098451 T A SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known missense c.2989 p.S997T 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 52 0 0 47 13 21.6667 DYNC1H1 0 genome.wustl.edu 37 14 102478748 102478748 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 102478748 102478748 C T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.6955 p.L2319 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 164 0 0 136 51 27.2727 WDR20 0 genome.wustl.edu 37 14 102676082 102676082 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 102676082 102676082 G A SNP WDR20 ENST00000454394 human ensembl 74_37 +1 known silent c.1668 p.P556 0.978 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR20 HGNC ENSG00000140153 92 0 0 81 22 21.3592 KIF26A 0 genome.wustl.edu 37 14 104639485 104639485 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 104639485 104639485 G A SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known missense c.1592 p.R531Q 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 51 0 0 22 12 35.2941 INF2 0 genome.wustl.edu 37 14 105179880 105179880 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 105179880 105179880 C T SNP INF2 ENST00000392634 human ensembl 74_37 +1 known missense c.2977 p.R993C 0.106 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 34 0 0 21 4 16 AHNAK2 0 genome.wustl.edu 37 14 105415952 105415952 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 105415952 105415952 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.5836 p.D1946N 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 323 1 0.308642 276 84 23.3333 JAG2 0 genome.wustl.edu 37 14 105614701 105614701 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 105614701 105614701 G A SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known missense c.2096 p.A699V 0.218 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 42 0 0 31 13 29.5455 BRF1 0 genome.wustl.edu 37 14 105684029 105684029 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 105684029 105684029 C T SNP BRF1 ENST00000546474 human ensembl 74_37 -1 known missense c.1624 p.V542M 1.000 pfam_BRF1_TBP-bd pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 53 0 0 49 7 12.5 TMEM121 0 genome.wustl.edu 37 14 105995472 105995472 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 105995472 105995472 C T SNP TMEM121 ENST00000392519 human ensembl 74_37 +1 known missense c.301 p.R101W 0.975 NULL NULL - no_errors TMEM121 HGNC ENSG00000184986 27 0 0 24 7 22.5806 TOX4 0 genome.wustl.edu 37 14 21961062 21961062 + Silent SNP T T A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 21961062 21961062 T A SNP TOX4 ENST00000262709 human ensembl 74_37 +1 known silent c.1287 p.A429 0.939 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX4 HGNC ENSG00000092203 238 0 0 257 58 18.4127 CDH24 0 genome.wustl.edu 37 14 23517658 23517658 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 23517658 23517658 C T SNP CDH24 ENST00000267383 human ensembl 74_37 -1 known missense c.1991 p.R664Q 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 187 0 0 132 50 27.4725 ACIN1 0 genome.wustl.edu 37 14 23528449 23528449 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 23528449 23528449 G A SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known nonsense c.3934 p.R1312* 0.995 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 146 0 0 118 46 28.0488 HOMEZ 0 genome.wustl.edu 37 14 23745371 23745371 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 23745371 23745371 G A SNP HOMEZ ENST00000431326 human ensembl 74_37 -1 known missense c.1072 p.R358C 0.999 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOMEZ HGNC ENSG00000215271 124 0 0 121 40 24.8447 MYH6 0 genome.wustl.edu 37 14 23873938 23873938 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 23873938 23873938 G A SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known silent c.624 p.D208 0.953 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,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 69 0 0 51 17 25 LRRC16B 0 genome.wustl.edu 37 14 24532727 24532727 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 24532727 24532727 A G SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known silent c.2964 p.G988 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 83 0 0 71 13 15.4762 PCK2 0 genome.wustl.edu 37 14 24572735 24572735 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 24572735 24572735 C T SNP PCK2 ENST00000216780 human ensembl 74_37 +1 known silent c.1485 p.H495 0.077 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK2 HGNC ENSG00000100889 90 0 0 90 19 17.4312 DCAF11 0 genome.wustl.edu 37 14 24588364 24588364 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 24588364 24588364 C T SNP DCAF11 ENST00000446197 human ensembl 74_37 +1 known missense c.790 p.R264C 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors DCAF11 HGNC ENSG00000100897 108 0 0 136 33 19.5266 TGM1 0 genome.wustl.edu 37 14 24718708 24718708 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 24718708 24718708 C T SNP TGM1 ENST00000206765 human ensembl 74_37 -1 known silent c.2265 p.S755 0.356 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 49 0 0 63 7 10 TGM1 0 genome.wustl.edu 37 14 24724696 24724696 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 24724696 24724696 G A SNP TGM1 ENST00000206765 human ensembl 74_37 -1 known missense c.1519 p.R507W 1.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 64 0 0 60 17 22.0779 PSMA6 0 genome.wustl.edu 37 14 35779976 35779976 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 35779976 35779976 G A SNP PSMA6 ENST00000261479 human ensembl 74_37 +1 known missense c.284 p.R95H 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA6 HGNC ENSG00000100902 37 0 0 54 12 18.1818 INSM2 0 genome.wustl.edu 37 14 36005036 36005036 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 36005036 36005036 G A SNP INSM2 ENST00000307169 human ensembl 74_37 +1 known silent c.1578 p.S526 0.764 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 34 0 0 44 12 21.4286 PAX9 0 genome.wustl.edu 37 14 37132621 37132621 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 37132621 37132621 C T SNP PAX9 ENST00000361487 human ensembl 74_37 +1 known missense c.524 p.T175M 1.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX9 HGNC ENSG00000198807 77 0 0 89 13 12.7451 MIS18BP1 0 genome.wustl.edu 37 14 45706910 45706910 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 45706910 45706910 C A SNP MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known missense c.1158 p.Q386H 0.680 pfam_SANTA pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 42 0 0 52 13 20 TRIM9 0 genome.wustl.edu 37 14 51464799 51464799 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 51464799 51464799 G A SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known silent c.1560 p.Y520 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 32 0 0 38 9 19.1489 PSMC6 0 genome.wustl.edu 37 14 53178229 53178229 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 53178229 53178229 G A SNP PSMC6 ENST00000445930 human ensembl 74_37 +1 known missense c.470 p.R157Q 1.000 superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC6 HGNC ENSG00000100519 89 0 0 88 24 21.4286 DAAM1 0 genome.wustl.edu 37 14 59730277 59730277 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 59730277 59730277 T C SNP DAAM1 ENST00000351081 human ensembl 74_37 +1 known missense c.82 p.Y28H 0.999 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DAAM1 HGNC ENSG00000100592 80 0 0 82 12 12.766 DAAM1 0 genome.wustl.edu 37 14 59790880 59790880 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 59790880 59790880 G A SNP DAAM1 ENST00000351081 human ensembl 74_37 +1 known missense c.809 p.R270Q 1.000 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DAAM1 HGNC ENSG00000100592 62 0 0 73 10 12.0482 PRKCH 0 genome.wustl.edu 37 14 61858002 61858002 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 61858002 61858002 T C SNP PRKCH ENST00000332981 human ensembl 74_37 +1 known silent c.423 p.T141 1.000 superfamily_C2_dom,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCH HGNC ENSG00000027075 64 0 0 62 11 15.0685 SYNE2 0 genome.wustl.edu 37 14 64522809 64522809 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 64522809 64522809 C T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known nonsense c.9892 p.R3298* 0.000 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 74 0 0 81 20 19.802 PLEKHH1 0 genome.wustl.edu 37 14 68047726 68047726 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 68047726 68047726 A G SNP PLEKHH1 ENST00000329153 human ensembl 74_37 +1 known silent c.3255 p.T1085 0.689 smart_Band_41_domain,pfscan_FERM_domain pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 81 0 0 73 14 16.092 GALNT16 0 genome.wustl.edu 37 14 69806334 69806334 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 69806334 69806334 C A SNP GALNT16 ENST00000337827 human ensembl 74_37 +1 known silent c.1185 p.G395 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT16 HGNC ENSG00000100626 47 0 0 41 7 14.5833 TTLL5 0 genome.wustl.edu 37 14 76135819 76135819 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 76135819 76135819 T C SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known silent c.135 p.H45 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 83 0 0 93 26 21.8487 C14orf166B 0 genome.wustl.edu 37 14 77297613 77297613 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 77297613 77297613 A G SNP C14orf166B ENST00000393774 human ensembl 74_37 +1 known silent c.285 p.V95 0.011 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors C14orf166B HGNC ENSG00000100565 67 0 0 72 4 5.26316 CEP128 0 genome.wustl.edu 37 14 81297570 81297570 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 81297570 81297570 C T SNP CEP128 ENST00000281129 human ensembl 74_37 -1 known missense c.1126 p.A376T 0.004 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 101 0 0 117 33 22 C14orf159 0 genome.wustl.edu 37 14 91662735 91662735 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 91662735 91662735 G T SNP C14orf159 ENST00000256324 human ensembl 74_37 +1 known missense c.1212 p.Q404H 0.000 pirsf_UPF0317_mt pfam_DUF1445,pirsf_UPF0317_mt - no_errors C14orf159 HGNC ENSG00000133943 33 0 0 27 11 28.9474 SLC24A4 0 genome.wustl.edu 37 14 92900274 92900274 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 92900274 92900274 C T SNP SLC24A4 ENST00000532405 human ensembl 74_37 +1 known missense c.260 p.T87I 0.067 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A4 HGNC ENSG00000140090 78 0 0 106 17 13.8211 BTBD7 0 genome.wustl.edu 37 14 93760615 93760615 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 93760615 93760615 G A SNP BTBD7 ENST00000334746 human ensembl 74_37 -1 known missense c.751 p.L251F 1.000 pfam_BTB_POZ,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 67 0 0 66 18 21.4286 SERPINA10 0 genome.wustl.edu 37 14 94754718 94754718 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 94754718 94754718 C T SNP SERPINA10 ENST00000261994 human ensembl 74_37 -1 known silent c.897 p.L299 0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA10 HGNC ENSG00000140093 51 0 0 66 14 17.5 SERPINA1 0 genome.wustl.edu 37 14 94849521 94849521 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 94849521 94849521 C A SNP SERPINA1 ENST00000355814 human ensembl 74_37 -1 known silent c.54 p.L18 0.989 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA1 HGNC ENSG00000197249 61 0 0 64 9 12.3288 SERPINA4 0 genome.wustl.edu 37 14 95030079 95030079 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 95030079 95030079 C T SNP SERPINA4 ENST00000298841 human ensembl 74_37 +1 known missense c.260 p.A87V 0.368 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA4 HGNC ENSG00000100665 55 0 0 56 14 20 SYNE3 0 genome.wustl.edu 37 14 95932331 95932331 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 95932331 95932331 G A SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known silent c.564 p.S188 0.846 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 65 0 0 85 18 17.4757 BCL11B 0 genome.wustl.edu 37 14 99642248 99642248 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 99642248 99642248 G A SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known missense c.925 p.R309C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 11 0 0 8 5 38.4615 LINS 0 genome.wustl.edu 37 15 101109610 101109610 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 101109610 101109610 C T SNP LINS ENST00000314742 human ensembl 74_37 -1 known missense c.2107 p.V703I 0.000 NULL NULL - no_errors LINS HGNC ENSG00000140471 127 0 0 104 18 14.7541 CYFIP1 0 genome.wustl.edu 37 15 22999391 22999391 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 22999391 22999391 G A SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known missense c.3263 p.C1088Y 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 67 0 0 59 18 23.3766 SNORD116-20 0 genome.wustl.edu 37 15 25332982 25332982 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 25332982 25332982 G A SNP SNORD116-20 ENST00000567527 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD116-20 HGNC ENSG00000261069 26 0 0 40 12 23.0769 HERC2 0 genome.wustl.edu 37 15 28422200 28422200 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 28422200 28422200 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.9328 p.H3110Y 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 57 0 0 60 29 32.5843 HERC2 0 genome.wustl.edu 37 15 28474423 28474423 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 28474423 28474423 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.5190 p.V1730 0.945 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 173 0 0 194 20 9.34579 RYR3 0 genome.wustl.edu 37 15 33941407 33941407 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 33941407 33941407 A G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.4113 p.L1371 0.996 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 120 0 0 146 36 19.7802 RYR3 0 genome.wustl.edu 37 15 33999177 33999177 + Nonsense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 33999177 33999177 G T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known nonsense c.6541 p.G2181* 1.000 pfam_Ca-rel_channel pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 20 0 0 19 5 20.8333 RYR3 0 genome.wustl.edu 37 15 34049779 34049779 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 34049779 34049779 A C SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.8687 p.E2896A 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 16 0 0 24 4 14.2857 BAHD1 0 genome.wustl.edu 37 15 40750914 40750914 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 40750914 40750914 G A SNP BAHD1 ENST00000416165 human ensembl 74_37 +1 known missense c.251 p.R84Q 0.684 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC ENSG00000140320 109 0 0 99 10 9.17431 RPUSD2 0 genome.wustl.edu 37 15 40865841 40865841 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 40865841 40865841 G A SNP RPUSD2 ENST00000315616 human ensembl 74_37 +1 known missense c.1019 p.R340Q 0.791 pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D - no_errors RPUSD2 HGNC ENSG00000166133 56 0 0 59 22 27.1605 LTK 0 genome.wustl.edu 37 15 41800306 41800306 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 41800306 41800306 C T SNP LTK ENST00000263800 human ensembl 74_37 -1 known missense c.1210 p.E404K 1.000 NULL 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 81 0 0 79 15 15.9574 DUOX1 0 genome.wustl.edu 37 15 45433228 45433228 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 45433228 45433228 C T SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known missense c.1525 p.R509W 0.951 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 134 1 0.740741 110 46 29.4872 COPS2 0 genome.wustl.edu 37 15 49426002 49426002 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 49426002 49426002 G A SNP COPS2 ENST00000299259 human ensembl 74_37 -1 known missense c.922 p.P308S 1.000 smart_PAM pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors COPS2 HGNC ENSG00000166200 16 0 0 28 3 9.67742 UNC13C 0 genome.wustl.edu 37 15 54630617 54630617 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 54630617 54630617 C A SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.4643 p.A1548D 1.000 pfam_Ca-dep_secretion_activator pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 119 0 0 126 41 24.5509 UNC13C 0 genome.wustl.edu 37 15 54919307 54919307 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 54919307 54919307 C A SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.6641 p.A2214D 0.974 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 18 0 0 29 4 12.1212 PRTG 0 genome.wustl.edu 37 15 55912281 55912281 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 55912281 55912281 G A SNP PRTG ENST00000389286 human ensembl 74_37 -1 known missense c.3382 p.R1128W 0.999 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 74 0 0 70 21 23.0769 TLN2 0 genome.wustl.edu 37 15 63017304 63017304 + Splice_Site SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 63017304 63017304 G A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known splice_site c.3255+1 e24+1 1.000 - - - no_errors TLN2 HGNC ENSG00000171914 55 0 0 55 15 21.4286 TPM1 0 genome.wustl.edu 37 15 63353438 63353438 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 63353438 63353438 A C SNP TPM1 ENST00000288398 human ensembl 74_37 +1 known missense c.605 p.Q202P 1.000 pfam_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM1 HGNC ENSG00000140416 63 0 0 54 22 28.9474 HERC1 0 genome.wustl.edu 37 15 63916430 63916430 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 63916430 63916430 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.13372 p.R4458C 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 77 0 0 72 24 25 HERC1 0 genome.wustl.edu 37 15 63958255 63958255 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 63958255 63958255 C T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known silent c.8418 p.S2806 0.876 superfamily_UBA-like pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 83 0 0 75 29 27.8846 HERC1 0 genome.wustl.edu 37 15 63966685 63966685 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 63966685 63966685 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known nonsense c.7702 p.R2568* 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 31 0 0 23 10 30.303 PARP16 0 genome.wustl.edu 37 15 65551754 65551754 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 65551754 65551754 C T SNP PARP16 ENST00000261888 human ensembl 74_37 -1 known silent c.963 p.A321 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP16 HGNC ENSG00000138617 253 0 0 230 66 22.2973 SMAD6 0 genome.wustl.edu 37 15 67073596 67073596 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 67073596 67073596 G A SNP SMAD6 ENST00000288840 human ensembl 74_37 +1 known missense c.1214 p.R405H 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD6 HGNC ENSG00000137834 60 0 0 54 16 22.8571 ITGA11 0 genome.wustl.edu 37 15 68606193 68606193 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 68606193 68606193 G A SNP ITGA11 ENST00000315757 human ensembl 74_37 -1 known missense c.2806 p.R936W 0.988 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 34 0 0 50 12 19.3548 NOX5 0 genome.wustl.edu 37 15 69325383 69325383 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 69325383 69325383 C T SNP NOX5 ENST00000388866 human ensembl 74_37 +1 known silent c.621 p.S207 0.996 NULL pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NOX5 HGNC ENSG00000255346 43 0 0 42 6 12.5 TLE3 0 genome.wustl.edu 37 15 70351123 70351123 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 70351123 70351123 T C SNP TLE3 ENST00000558939 human ensembl 74_37 -1 known missense c.797 p.H266R 1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE3 HGNC ENSG00000140332 21 0 0 14 9 39.1304 MYO9A 0 genome.wustl.edu 37 15 72190814 72190814 + Missense_Mutation SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 72190814 72190814 G C SNP MYO9A ENST00000424560 human ensembl 74_37 -1 known missense c.4030 p.L1344V 0.783 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 99 0 0 129 14 9.79021 MYO9A 0 genome.wustl.edu 37 15 72190846 72190846 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 72190846 72190846 A G SNP MYO9A ENST00000424560 human ensembl 74_37 -1 known missense c.3998 p.L1333P 1.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 102 0 0 128 14 9.85915 HCN4 0 genome.wustl.edu 37 15 73617774 73617774 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 73617774 73617774 C A SNP HCN4 ENST00000261917 human ensembl 74_37 -1 known silent c.1602 p.V534 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 160 0 0 138 37 21.1429 CPLX3 0 genome.wustl.edu 37 15 75122597 75122597 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 75122597 75122597 G A SNP CPLX3 ENST00000395018 human ensembl 74_37 +1 known missense c.379 p.A127T 0.980 pfam_Synaphin pfam_Synaphin - no_errors CPLX3 HGNC ENSG00000213578 82 0 0 71 6 7.79221 LINGO1 0 genome.wustl.edu 37 15 77907234 77907234 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 77907234 77907234 C T SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known missense c.1015 p.V339M 0.993 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 49 0 0 36 7 16.2791 CTSH 0 genome.wustl.edu 37 15 79229746 79229746 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 79229746 79229746 G A SNP CTSH ENST00000220166 human ensembl 74_37 -1 known missense c.143 p.T48M 0.000 pfam_Prot_inhib_I29,smart_Prot_inhib_I29 pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSH HGNC ENSG00000103811 69 0 0 70 23 24.7312 ARNT2 0 genome.wustl.edu 37 15 80873656 80873656 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 80873656 80873656 C T SNP ARNT2 ENST00000303329 human ensembl 74_37 +1 known missense c.1829 p.P610L 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 63 0 0 68 17 20 TMC3 0 genome.wustl.edu 37 15 81624809 81624809 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 81624809 81624809 C A SNP TMC3 ENST00000359440 human ensembl 74_37 -1 known missense c.3254 p.G1085V 0.020 NULL pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 23 0 0 18 5 21.7391 CPEB1 0 genome.wustl.edu 37 15 83296089 83296089 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 83296089 83296089 G A SNP CPEB1 ENST00000562019 human ensembl 74_37 -1 known silent c.45 p.C15 1.000 NULL pfscan_RRM_dom - no_errors CPEB1 HGNC ENSG00000214575 41 0 0 45 11 19.6429 ADAMTSL3 0 genome.wustl.edu 37 15 84506869 84506869 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 84506869 84506869 G T SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.629 p.S210I 0.999 prints_Peptidase_M12B_ADAM-TS pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 54 0 0 64 13 16.8831 ZNF710 0 genome.wustl.edu 37 15 90610713 90610713 + Missense_Mutation SNP A A T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 90610713 90610713 A T SNP ZNF710 ENST00000268154 human ensembl 74_37 +1 known missense c.344 p.E115V 0.995 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 22 0 0 24 6 20 VPS33B 0 genome.wustl.edu 37 15 91548976 91548976 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 91548976 91548976 G A SNP VPS33B ENST00000333371 human ensembl 74_37 -1 known silent c.978 p.F326 0.941 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33B HGNC ENSG00000184056 91 0 0 138 11 7.38255 IGF1R 0 genome.wustl.edu 37 15 99478094 99478094 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 99478094 99478094 A G SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known missense c.2998 p.T1000A 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,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 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 74 0 0 60 25 29.4118 KIAA0430 0 genome.wustl.edu 37 16 15690712 15690712 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 15690712 15690712 C T SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known silent c.5067 p.S1689 0.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 50 0 0 53 16 23.1884 ABCC6 0 genome.wustl.edu 37 16 16297397 16297397 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 16297397 16297397 G A SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known missense c.868 p.R290W 0.484 superfamily_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 54 0 0 51 15 22.7273 EME2 0 genome.wustl.edu 37 16 1825689 1825689 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 1825689 1825689 C T SNP EME2 ENST00000307394 human ensembl 74_37 +1 known silent c.936 p.C312 0.001 pfam_ERCC4_domain,smart_ERCC4_domain pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME2 HGNC ENSG00000197774 130 0 0 87 27 23.6842 NOXO1 0 genome.wustl.edu 37 16 2030038 2030038 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 2030038 2030038 C T SNP NOXO1 ENST00000397280 human ensembl 74_37 -1 known silent c.561 p.Q187 0.006 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors NOXO1 HGNC ENSG00000196408 19 0 0 15 9 37.5 DNAH3 0 genome.wustl.edu 37 16 20976108 20976108 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 20976108 20976108 A G SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.9098 p.I3033T 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 43 0 0 47 14 22.9508 DNAH3 0 genome.wustl.edu 37 16 20976633 20976633 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 20976633 20976633 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.8573 p.R2858Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 161 0 0 108 19 14.9606 CASKIN1 0 genome.wustl.edu 37 16 2231466 2231466 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 2231466 2231466 G A SNP CASKIN1 ENST00000343516 human ensembl 74_37 -1 known missense c.1903 p.P635S 0.834 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 53 0 0 35 10 22.2222 ABCA3 0 genome.wustl.edu 37 16 2331173 2331173 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 2331173 2331173 G A SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.4214 p.A1405V 0.041 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 109 0 0 73 17 18.8889 ABCA3 0 genome.wustl.edu 37 16 2335445 2335445 + Missense_Mutation SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 2335445 2335445 G C SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.3481 p.L1161V 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 14 0 0 9 3 25 PLK1 0 genome.wustl.edu 37 16 23700887 23700887 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 23700887 23700887 C T SNP PLK1 ENST00000300093 human ensembl 74_37 +1 known missense c.1498 p.R500C 0.989 NULL pfam_Prot_kinase_dom,pfam_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK1 HGNC ENSG00000166851 57 0 0 57 14 19.7183 ARHGAP17 0 genome.wustl.edu 37 16 24942602 24942602 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 24942602 24942602 C T SNP ARHGAP17 ENST00000289968 human ensembl 74_37 -1 known missense c.2018 p.R673Q 0.929 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 183 0 0 138 46 25 SRRM2 0 genome.wustl.edu 37 16 2812424 2812424 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 2812424 2812424 G A SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.1895 p.R632Q 0.811 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 112 0 0 78 27 25.7143 ATXN2L 0 genome.wustl.edu 37 16 28843844 28843844 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 28843844 28843844 G T SNP ATXN2L ENST00000395547 human ensembl 74_37 +1 known missense c.1544 p.G515V 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 147 0 0 128 44 25.5814 ZNF747 0 genome.wustl.edu 37 16 30544331 30544331 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 30544331 30544331 C T SNP ZNF747 ENST00000535210 human ensembl 74_37 -1 known missense c.482 p.R161Q 0.000 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 ZNF747 HGNC ENSG00000169955 40 0 0 35 19 35.1852 PRR14 0 genome.wustl.edu 37 16 30664276 30664276 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 30664276 30664276 G A SNP PRR14 ENST00000300835 human ensembl 74_37 +1 known missense c.356 p.R119H 0.422 NULL NULL - no_errors PRR14 HGNC ENSG00000156858 73 0 0 58 17 22.6667 KAT8 0 genome.wustl.edu 37 16 31131779 31131779 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 31131779 31131779 C T SNP KAT8 ENST00000448516 human ensembl 74_37 +1 known missense c.406 p.R136C 1.000 superfamily_Chromodomain-like pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC ENSG00000103510 61 0 0 59 14 19.1781 ITGAM 0 genome.wustl.edu 37 16 31341634 31341634 + Nonsense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 31341634 31341634 C A SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known nonsense c.3069 p.C1023* 1.000 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 ITGAM HGNC ENSG00000169896 63 0 0 68 12 15 ZNF267 0 genome.wustl.edu 37 16 31927273 31927273 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 31927273 31927273 G A SNP ZNF267 ENST00000300870 human ensembl 74_37 +1 known missense c.1703 p.R568Q 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF267 HGNC ENSG00000185947 38 0 0 50 10 16.6667 MEFV 0 genome.wustl.edu 37 16 3304310 3304310 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 3304310 3304310 G A SNP MEFV ENST00000219596 human ensembl 74_37 -1 known missense c.758 p.A253V 0.000 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 220 0 0 196 54 21.6 MEFV 0 genome.wustl.edu 37 16 3304438 3304438 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 3304438 3304438 C T SNP MEFV ENST00000219596 human ensembl 74_37 -1 known silent c.630 p.A210 0.002 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 47 0 0 43 19 30.6452 ZNF174 0 genome.wustl.edu 37 16 3458870 3458870 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 3458870 3458870 G A SNP ZNF174 ENST00000268655 human ensembl 74_37 +1 known missense c.1175 p.R392H 0.893 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF174 HGNC ENSG00000103343 87 0 0 69 23 25 C16orf90 0 genome.wustl.edu 37 16 3544587 3544587 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 3544587 3544587 G A SNP C16orf90 ENST00000437192 human ensembl 74_37 -1 known missense c.337 p.R113C 0.998 NULL NULL - no_errors C16orf90 HGNC ENSG00000215131 66 0 0 64 5 7.24638 ADCY9 0 genome.wustl.edu 37 16 4016445 4016445 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 4016445 4016445 C T SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known silent c.3393 p.P1131 0.219 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 98 0 0 92 21 18.5841 DNAJA2 0 genome.wustl.edu 37 16 46990951 46990951 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 46990951 46990951 G A SNP DNAJA2 ENST00000317089 human ensembl 74_37 -1 known missense c.1229 p.A410V 1.000 NULL pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA2 HGNC ENSG00000069345 358 0 0 389 90 18.7891 ITFG1 0 genome.wustl.edu 37 16 47196555 47196555 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 47196555 47196555 C T SNP ITFG1 ENST00000320640 human ensembl 74_37 -1 known missense c.1474 p.A492T 0.999 NULL NULL - no_errors ITFG1 HGNC ENSG00000129636 87 0 0 105 20 16 MGRN1 0 genome.wustl.edu 37 16 4732885 4732885 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 4732885 4732885 G A SNP MGRN1 ENST00000262370 human ensembl 74_37 +1 known missense c.1420 p.V474M 0.082 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC ENSG00000102858 35 0 0 28 9 24.3243 ANKS3 0 genome.wustl.edu 37 16 4749170 4749170 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 4749170 4749170 G A SNP ANKS3 ENST00000304283 human ensembl 74_37 -1 known missense c.1292 p.A431V 0.994 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS3 HGNC ENSG00000168096 43 0 0 31 3 8.82353 ZNF500 0 genome.wustl.edu 37 16 4810569 4810569 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 4810569 4810569 G A SNP ZNF500 ENST00000219478 human ensembl 74_37 -1 known silent c.684 p.D228 0.971 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF500 HGNC ENSG00000103199 63 0 0 67 23 25.5556 ZNF423 0 genome.wustl.edu 37 16 49670997 49670997 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 49670997 49670997 G A SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.2066 p.S689L 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 83 0 0 61 30 32.967 PAPD5 0 genome.wustl.edu 37 16 50261813 50261813 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 50261813 50261813 C T SNP PAPD5 ENST00000436909 human ensembl 74_37 +1 known nonsense c.1819 p.R607* 1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD5 HGNC ENSG00000121274 86 0 0 77 17 18.0851 ADCY7 0 genome.wustl.edu 37 16 50324513 50324513 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 50324513 50324513 C T SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.317 p.A106V 0.109 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 71 0 0 86 18 17.3077 TOX3 0 genome.wustl.edu 37 16 52479908 52479908 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 52479908 52479908 G A SNP TOX3 ENST00000219746 human ensembl 74_37 -1 known nonsense c.904 p.Q302* 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX3 HGNC ENSG00000103460 36 0 0 38 7 15.5556 CHD9 0 genome.wustl.edu 37 16 53279640 53279640 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 53279640 53279640 G A SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.3332 p.R1111Q 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 45 0 0 38 18 32.1429 GPR114 0 genome.wustl.edu 37 16 57597822 57597822 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 57597822 57597822 C T SNP GPR114 ENST00000340339 human ensembl 74_37 +1 known silent c.360 p.D120 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 92 0 0 79 22 21.7822 GPR56 0 genome.wustl.edu 37 16 57687167 57687167 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 57687167 57687167 A C SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known missense c.540 p.K180N 0.042 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR56 HGNC ENSG00000205336 51 0 0 42 11 20.7547 GPR56 0 genome.wustl.edu 37 16 57689372 57689372 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 57689372 57689372 C T SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known missense c.830 p.T277M 0.483 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR56 HGNC ENSG00000205336 75 0 0 72 22 23.4043 TEPP 0 genome.wustl.edu 37 16 58019819 58019819 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 58019819 58019819 T C SNP TEPP ENST00000290871 human ensembl 74_37 +1 known silent c.840 p.T280 0.012 NULL NULL - no_errors TEPP HGNC ENSG00000159648 47 0 0 36 6 14.2857 NDRG4 0 genome.wustl.edu 37 16 58538175 58538175 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 58538175 58538175 A G SNP NDRG4 ENST00000394282 human ensembl 74_37 +1 known missense c.401 p.Q134R 1.000 pfam_Ndr pfam_Ndr - no_errors NDRG4 HGNC ENSG00000103034 172 0 0 134 37 21.6374 CDH8 0 genome.wustl.edu 37 16 61851604 61851604 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 61851604 61851604 C T SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known silent c.1056 p.T352 0.010 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 42 0 0 46 12 20.6897 CDH5 0 genome.wustl.edu 37 16 66436738 66436738 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 66436738 66436738 C T SNP CDH5 ENST00000341529 human ensembl 74_37 +1 known missense c.2021 p.P674L 0.529 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC ENSG00000179776 25 0 0 14 4 22.2222 TK2 0 genome.wustl.edu 37 16 66562958 66562958 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 66562958 66562958 G A SNP TK2 ENST00000299697 human ensembl 74_37 -1 known missense c.514 p.R172W 0.997 pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase - no_errors TK2 HGNC ENSG00000166548 62 0 0 57 21 26.9231 CES2 0 genome.wustl.edu 37 16 66974419 66974419 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 66974419 66974419 G A SNP CES2 ENST00000317091 human ensembl 74_37 +1 known missense c.829 p.A277T 0.400 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES2 HGNC ENSG00000172831 105 0 0 83 22 20.9524 FHOD1 0 genome.wustl.edu 37 16 67264360 67264360 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 67264360 67264360 C T SNP FHOD1 ENST00000258201 human ensembl 74_37 -1 known missense c.2908 p.E970K 0.998 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 111 0 0 84 19 18.4466 CTCF 0 genome.wustl.edu 37 16 67662368 67662368 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 67662368 67662368 C T SNP CTCF ENST00000264010 human ensembl 74_37 +1 known silent c.1614 p.L538 0.511 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 131 0 0 115 35 23.3333 EDC4 0 genome.wustl.edu 37 16 67909991 67909991 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 67909991 67909991 G A SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known missense c.226 p.E76K 1.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 82 0 0 82 15 15.4639 SLC12A4 0 genome.wustl.edu 37 16 67978779 67978779 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 67978779 67978779 G A SNP SLC12A4 ENST00000422611 human ensembl 74_37 -1 known silent c.3228 p.R1076 0.483 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 48 0 0 45 9 16.6667 VAC14 0 genome.wustl.edu 37 16 70721926 70721926 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 70721926 70721926 G A SNP VAC14 ENST00000261776 human ensembl 74_37 -1 known silent c.2254 p.L752 1.000 pfam_VAC14_Fig4p-bd pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 138 0 0 102 30 22.7273 WDR90 0 genome.wustl.edu 37 16 717484 717484 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 717484 717484 C T SNP WDR90 ENST00000315764 human ensembl 74_37 +1 known silent c.795 p.A265 0.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 43 0 0 43 16 27.1186 HP 0 genome.wustl.edu 37 16 72094353 72094353 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 72094353 72094353 T C SNP HP ENST00000355906 human ensembl 74_37 +1 known missense c.785 p.V262A 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HP HGNC ENSG00000257017 51 0 0 62 15 19.4805 ZFHX3 0 genome.wustl.edu 37 16 72821600 72821600 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 72821600 72821600 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.10575 p.G3525 0.965 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 89 0 0 65 16 19.7531 ZFHX3 0 genome.wustl.edu 37 16 72992701 72992701 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 72992701 72992701 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.1344 p.D448 0.309 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 146 0 0 148 19 11.3772 RFWD3 0 genome.wustl.edu 37 16 74657848 74657848 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 74657848 74657848 A G SNP RFWD3 ENST00000361070 human ensembl 74_37 -1 known missense c.2303 p.V768A 1.000 smart_WD40_repeat pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING - no_errors RFWD3 HGNC ENSG00000168411 63 0 0 76 7 8.43373 CHST5 0 genome.wustl.edu 37 16 75563882 75563882 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 75563882 75563882 G T SNP CHST5 ENST00000541075 human ensembl 74_37 -1 known missense c.419 p.P140Q 0.987 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 164 0 0 111 24 17.7778 CNTNAP4 0 genome.wustl.edu 37 16 76556154 76556154 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 76556154 76556154 G A SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.2752 p.G918S 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 39 0 0 46 5 9.80392 RBFOX1 0 genome.wustl.edu 37 16 7703894 7703894 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 7703894 7703894 G A SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known missense c.964 p.V322M 1.000 pfam_Fox-1_C_dom,pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 52 0 0 39 14 26.4151 CDYL2 0 genome.wustl.edu 37 16 80718448 80718448 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 80718448 80718448 C T SNP CDYL2 ENST00000570137 human ensembl 74_37 -1 known silent c.603 p.A201 0.008 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 84 0 0 69 29 29.5918 GSE1 0 genome.wustl.edu 37 16 85688047 85688047 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 85688047 85688047 C T SNP GSE1 ENST00000253458 human ensembl 74_37 +1 known missense c.590 p.P197L 0.978 pfam_GSE-like pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 91 0 0 79 8 9.1954 FOXL1 0 genome.wustl.edu 37 16 86612522 86612522 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 86612522 86612522 G A SNP FOXL1 ENST00000320241 human ensembl 74_37 +1 known missense c.193 p.A65T 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXL1 HGNC ENSG00000176678 99 0 0 111 29 20.7143 KLHDC4 0 genome.wustl.edu 37 16 87760452 87760452 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 87760452 87760452 C T SNP KLHDC4 ENST00000270583 human ensembl 74_37 -1 known silent c.678 p.T226 0.000 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC4 HGNC ENSG00000104731 82 0 0 77 19 19.7917 ZFPM1 0 genome.wustl.edu 37 16 88599104 88599104 + Silent SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 88599104 88599104 G T SNP ZFPM1 ENST00000319555 human ensembl 74_37 +1 known silent c.1029 p.T343 0.489 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM1 HGNC ENSG00000179588 20 0 0 25 3 10.7143 ZC3H18 0 genome.wustl.edu 37 16 88675400 88675400 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 88675400 88675400 G A SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known missense c.1147 p.G383R 1.000 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 120 0 0 108 50 31.6456 SNAI3 0 genome.wustl.edu 37 16 88744962 88744962 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 88744962 88744962 G A SNP SNAI3 ENST00000332281 human ensembl 74_37 -1 known missense c.773 p.T258M 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI3 HGNC ENSG00000185669 50 0 0 51 13 20.3125 SPIRE2 0 genome.wustl.edu 37 16 89925676 89925676 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 89925676 89925676 C T SNP SPIRE2 ENST00000378247 human ensembl 74_37 +1 known missense c.1376 p.S459L 0.728 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE2 HGNC ENSG00000204991 47 0 0 35 11 23.913 DNAH9 0 genome.wustl.edu 37 17 11554544 11554544 + Silent SNP T T A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 11554544 11554544 T A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known silent c.2256 p.T752 0.991 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 88 0 0 94 28 22.9508 HS3ST3A1 0 genome.wustl.edu 37 17 13503926 13503926 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 13503926 13503926 A G SNP HS3ST3A1 ENST00000284110 human ensembl 74_37 -1 known missense c.521 p.V174A 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3A1 HGNC ENSG00000153976 26 0 0 27 5 15.625 MYO1C 0 genome.wustl.edu 37 17 1380799 1380799 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 1380799 1380799 G A SNP MYO1C ENST00000359786 human ensembl 74_37 -1 known missense c.1574 p.T525M 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC ENSG00000197879 45 0 0 38 3 7.31707 SCARF1 0 genome.wustl.edu 37 17 1540090 1540090 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 1540090 1540090 C T SNP SCARF1 ENST00000263071 human ensembl 74_37 -1 known missense c.1546 p.G516S 0.994 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 269 0 0 231 54 18.9474 DRG2 0 genome.wustl.edu 37 17 17997175 17997175 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 17997175 17997175 G T SNP DRG2 ENST00000225729 human ensembl 74_37 +1 known missense c.113 p.R38L 1.000 NULL pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors DRG2 HGNC ENSG00000108591 85 0 0 78 13 14.2857 USP32P2 0 genome.wustl.edu 37 17 18420699 18420699 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 18420699 18420699 G A SNP USP32P2 ENST00000412260 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors USP32P2 HGNC ENSG00000233327 56 0 0 27 14 34.1463 USP22 0 genome.wustl.edu 37 17 20911235 20911235 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 20911235 20911235 G A SNP USP22 ENST00000261497 human ensembl 74_37 -1 known missense c.1178 p.T393I 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP22 HGNC ENSG00000124422 126 1 0.787402 136 17 11.1111 USP22 0 genome.wustl.edu 37 17 20911258 20911258 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 20911258 20911258 A G SNP USP22 ENST00000261497 human ensembl 74_37 -1 known silent c.1155 p.G385 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP22 HGNC ENSG00000124422 103 0 0 119 14 10.5263 KCNJ12 0 genome.wustl.edu 37 17 21319295 21319295 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 21319295 21319295 G A SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.641 p.R214H 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 68 0 0 69 14 16.8675 UBBP4 0 genome.wustl.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 21731270 21731270 T C SNP UBBP4 ENST00000584755 human ensembl 74_37 +1 novel missense c.572 p.I191T 1.000 smart_Ubiquitin_dom pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 73 0 0 90 5 5.26316 CLUH 0 genome.wustl.edu 37 17 2594033 2594033 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 2594033 2594033 C T SNP CLUH ENST00000435359 human ensembl 74_37 -1 known missense c.3785 p.R1262Q 1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 61 0 0 69 10 12.6582 CLUH 0 genome.wustl.edu 37 17 2604528 2604528 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 2604528 2604528 C T SNP CLUH ENST00000435359 human ensembl 74_37 -1 known missense c.817 p.A273T 1.000 superfamily_GSKIP_dom superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 39 0 0 32 11 25.5814 KIAA0100 0 genome.wustl.edu 37 17 26965391 26965391 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 26965391 26965391 A G SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.1391 p.V464A 0.974 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 45 0 0 42 10 19.2308 ERAL1 0 genome.wustl.edu 37 17 27187465 27187465 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 27187465 27187465 C T SNP ERAL1 ENST00000254928 human ensembl 74_37 +1 known missense c.1208 p.P403L 0.000 superfamily_KH_prok-type pfam_GTP_binding_domain,pfam_MIRO-like,pfam_Dynamin_GTPase,pfam_AIG1,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_KH_prok-type,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors ERAL1 HGNC ENSG00000132591 82 0 0 70 19 21.3483 FLOT2 0 genome.wustl.edu 37 17 27208830 27208830 + Splice_Site SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 27208830 27208830 A G SNP FLOT2 ENST00000394908 human ensembl 74_37 -1 known splice_site c.914+2 e8+2 1.000 - - - no_errors FLOT2 HGNC ENSG00000132589 102 0 0 97 19 16.3793 FLOT2 0 genome.wustl.edu 37 17 27224559 27224559 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 27224559 27224559 C T SNP FLOT2 ENST00000394908 human ensembl 74_37 -1 known missense c.34 p.A12T 1.000 pfam_Band_7 pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC ENSG00000132589 18 0 0 24 7 22.5806 SSH2 0 genome.wustl.edu 37 17 27957960 27957960 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 27957960 27957960 C T SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.4171 p.V1391M 0.014 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 131 0 0 170 48 22.0183 CRLF3 0 genome.wustl.edu 37 17 29111392 29111392 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 29111392 29111392 G A SNP CRLF3 ENST00000324238 human ensembl 74_37 -1 known missense c.1142 p.T381M 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF3 HGNC ENSG00000176390 53 0 0 46 13 22.0339 RAD51D 0 genome.wustl.edu 37 17 33428224 33428224 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 33428224 33428224 C T SNP RAD51D ENST00000590016 human ensembl 74_37 -1 known missense c.959 p.R320Q 0.997 superfamily_P-loop_NTPase pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51D HGNC ENSG00000185379 140 0 0 91 33 26.6129 SLFN11 0 genome.wustl.edu 37 17 33689813 33689813 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 33689813 33689813 G A SNP SLFN11 ENST00000308377 human ensembl 74_37 -1 known silent c.1014 p.Y338 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN11 HGNC ENSG00000172716 64 0 0 84 19 18.4466 SPATA22 0 genome.wustl.edu 37 17 3370829 3370829 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 3370829 3370829 C A SNP SPATA22 ENST00000397168 human ensembl 74_37 -1 known missense c.63 p.L21F 0.969 NULL NULL - no_errors SPATA22 HGNC ENSG00000141255 31 0 0 21 10 32.2581 GGNBP2 0 genome.wustl.edu 37 17 34935830 34935830 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 34935830 34935830 C T SNP GGNBP2 ENST00000304718 human ensembl 74_37 +1 known missense c.1001 p.A334V 1.000 NULL NULL - no_errors GGNBP2 HGNC ENSG00000005955 128 0 0 123 25 16.8919 ITGAE 0 genome.wustl.edu 37 17 3655165 3655165 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 3655165 3655165 C T SNP ITGAE ENST00000263087 human ensembl 74_37 -1 known missense c.1672 p.G558S 0.755 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 83 0 0 71 16 18.3908 PLXDC1 0 genome.wustl.edu 37 17 37264468 37264468 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 37264468 37264468 C A SNP PLXDC1 ENST00000315392 human ensembl 74_37 -1 known missense c.500 p.R167L 1.000 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold - no_errors PLXDC1 HGNC ENSG00000161381 159 0 0 119 35 22.7273 NEUROD2 0 genome.wustl.edu 37 17 37761906 37761906 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 37761906 37761906 G A SNP NEUROD2 ENST00000302584 human ensembl 74_37 -1 known missense c.947 p.S316L 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD2 HGNC ENSG00000171532 41 0 0 35 11 23.913 ERBB2 0 genome.wustl.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 37868208 37868208 C A SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.929 p.S310Y 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 257 1 0.387597 258 67 20.6154 ERBB2 0 genome.wustl.edu 37 17 37879583 37879583 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 37879583 37879583 C T SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.1958 p.S653F 0.958 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 144 0 0 135 36 21.0526 NR1D1 0 genome.wustl.edu 37 17 38253569 38253569 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 38253569 38253569 C T SNP NR1D1 ENST00000246672 human ensembl 74_37 -1 known missense c.119 p.S40N 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,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 NR1D1 HGNC ENSG00000126368 53 0 0 39 19 32.7586 KRT26 0 genome.wustl.edu 37 17 38926123 38926123 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 38926123 38926123 C T SNP KRT26 ENST00000335552 human ensembl 74_37 -1 known silent c.852 p.T284 0.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT26 HGNC ENSG00000186393 141 0 0 160 34 17.5258 KRTAP4-1 0 genome.wustl.edu 37 17 39340769 39340769 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 39340769 39340769 C T SNP KRTAP4-1 ENST00000398472 human ensembl 74_37 -1 known missense c.338 p.R113H 1.000 NULL pfam_Keratin-assoc - no_errors KRTAP4-1 HGNC ENSG00000198443 124 0 0 148 45 23.3161 ZZEF1 0 genome.wustl.edu 37 17 3967998 3967998 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 3967998 3967998 G A SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.4375 p.R1459C 0.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 71 0 0 83 16 16.1616 KRT16 0 genome.wustl.edu 37 17 39766610 39766610 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 39766610 39766610 C T SNP KRT16 ENST00000301653 human ensembl 74_37 -1 known missense c.1253 p.R418H 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT16 HGNC ENSG00000186832 115 0 0 151 11 6.79012 NKIRAS2 0 genome.wustl.edu 37 17 40174609 40174609 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 40174609 40174609 G A SNP NKIRAS2 ENST00000307641 human ensembl 74_37 +1 known missense c.287 p.R96H 0.995 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NKIRAS2 HGNC ENSG00000168256 63 0 0 61 22 26.506 TUBG1 0 genome.wustl.edu 37 17 40766567 40766567 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 40766567 40766567 G A SNP TUBG1 ENST00000251413 human ensembl 74_37 +1 known silent c.1050 p.P350 0.990 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG1 HGNC ENSG00000131462 86 0 0 89 12 11.8812 ANKFY1 0 genome.wustl.edu 37 17 4098291 4098291 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 4098291 4098291 C T SNP ANKFY1 ENST00000570535 human ensembl 74_37 -1 known missense c.1480 p.A494T 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 57 0 0 55 11 16.6667 SPPL2C 0 genome.wustl.edu 37 17 43922905 43922905 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 43922905 43922905 C A SNP SPPL2C ENST00000329196 human ensembl 74_37 +1 known missense c.633 p.N211K 0.003 NULL pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2C HGNC ENSG00000185294 102 0 0 103 26 20.155 HOXB7 0 genome.wustl.edu 37 17 46685449 46685449 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 46685449 46685449 G A SNP HOXB7 ENST00000239165 human ensembl 74_37 -1 known missense c.409 p.R137C 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB7 HGNC ENSG00000260027 75 0 0 59 19 24.359 MINK1 0 genome.wustl.edu 37 17 4798734 4798734 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 4798734 4798734 C T SNP MINK1 ENST00000355280 human ensembl 74_37 +1 known missense c.3175 p.R1059C 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,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 MINK1 HGNC ENSG00000141503 51 0 0 38 12 24 CHRNE 0 genome.wustl.edu 37 17 4804122 4804122 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 4804122 4804122 G A SNP CHRNE ENST00000293780 human ensembl 74_37 -1 known missense c.883 p.P295S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNE HGNC ENSG00000108556 35 0 0 51 13 20.3125 XYLT2 0 genome.wustl.edu 37 17 48433974 48433974 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 48433974 48433974 G A SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known missense c.1585 p.G529S 0.963 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 117 0 0 86 21 19.6262 CACNA1G 0 genome.wustl.edu 37 17 48680219 48680219 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 48680219 48680219 C T SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known silent c.3954 p.T1318 0.877 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 49 0 0 42 11 20.7547 CAMTA2 0 genome.wustl.edu 37 17 4886137 4886137 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 4886137 4886137 C T SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known missense c.323 p.R108Q 1.000 pfam_CG-1_dom pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 66 0 0 56 14 20 SLC52A1 0 genome.wustl.edu 37 17 4936377 4936377 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 4936377 4936377 A G SNP SLC52A1 ENST00000254853 human ensembl 74_37 -1 known silent c.1222 p.L408 1.000 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A1 HGNC ENSG00000132517 78 0 0 78 6 7.14286 TRIM25 0 genome.wustl.edu 37 17 54990912 54990912 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 54990912 54990912 C T SNP TRIM25 ENST00000316881 human ensembl 74_37 -1 known silent c.438 p.Q146 0.065 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM25 HGNC ENSG00000121060 50 0 0 62 10 13.8889 RNF43 0 genome.wustl.edu 37 17 56435974 56435974 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 56435974 56435974 T C SNP RNF43 ENST00000407977 human ensembl 74_37 -1 known missense c.1163 p.H388R 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 12 0 0 7 3 30 TRIM37 0 genome.wustl.edu 37 17 57141756 57141756 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 57141756 57141756 G A SNP TRIM37 ENST00000262294 human ensembl 74_37 -1 known missense c.820 p.P274S 1.000 NULL pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 17 0 0 9 4 30.7692 CLTC 0 genome.wustl.edu 37 17 57741235 57741235 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 57741235 57741235 G A SNP CLTC ENST00000269122 human ensembl 74_37 +1 known silent c.1401 p.V467 1.000 superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 92 0 0 97 8 7.61905 TANC2 0 genome.wustl.edu 37 17 61497692 61497692 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 61497692 61497692 G A SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.4349 p.R1450Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 58 0 0 76 20 20.8333 KCNH6 0 genome.wustl.edu 37 17 61613087 61613087 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 61613087 61613087 G A SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known missense c.1159 p.A387T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 102 0 0 83 5 5.68182 SCN4A 0 genome.wustl.edu 37 17 62028988 62028988 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 62028988 62028988 G A SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known silent c.2649 p.P883 0.033 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 18 0 0 17 7 29.1667 PITPNM3 0 genome.wustl.edu 37 17 6367116 6367116 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 6367116 6367116 C T SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known missense c.2242 p.A748T 0.998 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 33 0 0 19 9 32.1429 PRKCA 0 genome.wustl.edu 37 17 64299019 64299019 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 64299019 64299019 C A SNP PRKCA ENST00000413366 human ensembl 74_37 +1 known missense c.50 p.A17D 1.000 pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC ENSG00000154229 41 0 0 35 11 23.913 PRKAR1A 0 genome.wustl.edu 37 17 66511561 66511561 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 66511561 66511561 C T SNP PRKAR1A ENST00000358598 human ensembl 74_37 +1 known silent c.21 p.A7 0.983 pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1A HGNC ENSG00000108946 34 0 0 38 6 13.6364 DVL2 0 genome.wustl.edu 37 17 7129420 7129420 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 7129420 7129420 G A SNP DVL2 ENST00000005340 human ensembl 74_37 -1 known nonsense c.1975 p.R659* 1.000 pfam_Dishevelled_C-dom,prints_Dishevelled_2 pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_2,prints_Dishevelled_fam - no_errors DVL2 HGNC ENSG00000004975 85 0 0 67 14 17.284 BTBD17 0 genome.wustl.edu 37 17 72353756 72353756 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 72353756 72353756 G A SNP BTBD17 ENST00000375366 human ensembl 74_37 -1 known silent c.477 p.R159 0.849 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD17 HGNC ENSG00000204347 8 0 0 7 4 36.3636 GPRC5C 0 genome.wustl.edu 37 17 72436873 72436873 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 72436873 72436873 C T SNP GPRC5C ENST00000392627 human ensembl 74_37 +1 known missense c.1093 p.R365W 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5C HGNC ENSG00000170412 65 0 0 36 10 21.7391 GRIN2C 0 genome.wustl.edu 37 17 72846402 72846402 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 72846402 72846402 C T SNP GRIN2C ENST00000293190 human ensembl 74_37 -1 known silent c.1434 p.V478 1.000 pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 188 0 0 159 34 17.6166 GRIN2C 0 genome.wustl.edu 37 17 72846864 72846864 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 72846864 72846864 C T SNP GRIN2C ENST00000293190 human ensembl 74_37 -1 known missense c.1156 p.V386M 0.998 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 45 0 0 39 10 20.4082 OTOP3 0 genome.wustl.edu 37 17 72942794 72942794 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 72942794 72942794 G A SNP OTOP3 ENST00000328801 human ensembl 74_37 +1 known missense c.844 p.A282T 0.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 173 0 0 147 47 24.2268 TSEN54 0 genome.wustl.edu 37 17 73517590 73517590 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 73517590 73517590 C T SNP TSEN54 ENST00000583173 human ensembl 74_37 +1 known nonsense c.457 p.R153* 0.585 NULL NULL - no_errors TSEN54 HGNC ENSG00000182173 56 0 0 62 10 13.8889 ZBTB4 0 genome.wustl.edu 37 17 7365428 7365428 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 7365428 7365428 G A SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known missense c.2873 p.A958V 0.994 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 332 0 0 294 86 22.6316 CDK3 0 genome.wustl.edu 37 17 73998463 73998463 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 73998463 73998463 C T SNP CDK3 ENST00000425876 human ensembl 74_37 +1 known silent c.450 p.R150 0.951 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK3 HGNC ENSG00000250506 41 0 0 37 14 27.451 SEC14L1 0 genome.wustl.edu 37 17 75190832 75190832 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 75190832 75190832 C T SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known missense c.548 p.P183L 1.000 NULL pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 146 0 0 122 33 21.2903 SEC14L1 0 genome.wustl.edu 37 17 75205426 75205426 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 75205426 75205426 C T SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known silent c.1479 p.C493 1.000 superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 28 0 0 31 14 31.1111 TMEM88 0 genome.wustl.edu 37 17 7758925 7758925 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 7758925 7758925 C T SNP TMEM88 ENST00000301599 human ensembl 74_37 +1 known missense c.373 p.P125S 1.000 NULL NULL - no_errors TMEM88 HGNC ENSG00000167874 86 0 0 80 20 20 RNF213 0 genome.wustl.edu 37 17 78320503 78320503 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 78320503 78320503 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.8368 p.A2790T 0.992 superfamily_P-loop_NTPase,smart_AAA+_ATPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 39 0 0 33 11 25 RPTOR 0 genome.wustl.edu 37 17 78796081 78796081 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 78796081 78796081 C T SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known missense c.971 p.A324V 1.000 prints_Raptor pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 323 0 0 264 81 23.4783 RPTOR 0 genome.wustl.edu 37 17 78933973 78933973 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 78933973 78933973 C T SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known silent c.3573 p.R1191 0.013 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 52 0 0 52 8 13.3333 GUCY2D 0 genome.wustl.edu 37 17 7910804 7910804 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 7910804 7910804 C T SNP GUCY2D ENST00000254854 human ensembl 74_37 +1 known silent c.1524 p.D508 0.006 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors GUCY2D HGNC ENSG00000132518 135 0 0 131 23 14.9351 MRPL12 0 genome.wustl.edu 37 17 79674255 79674255 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 79674255 79674255 C T SNP MRPL12 ENST00000333676 human ensembl 74_37 +1 known silent c.582 p.T194 0.183 pfam_Ribosomal_L7/L12_C,superfamily_Ribosomal_L7/12_C/ClpS-like pfam_Ribosomal_L7/L12_C,superfamily_Ribosomal_L7/12_C/ClpS-like,superfamily_Ribosomal_L7/L12_oligo - no_errors MRPL12 HGNC ENSG00000262814 186 0 0 161 45 21.8447 FASN 0 genome.wustl.edu 37 17 80041188 80041188 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 80041188 80041188 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.5455 p.R1819W 0.549 smart_PKS_ER pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 69 0 0 54 12 18.1818 FASN 0 genome.wustl.edu 37 17 80046330 80046330 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 80046330 80046330 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known silent c.2529 p.D843 0.991 smart_PKS_dehydratase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 52 0 0 52 15 22.3881 PFAS 0 genome.wustl.edu 37 17 8161423 8161423 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 8161423 8161423 C T SNP PFAS ENST00000314666 human ensembl 74_37 +1 known silent c.1242 p.D414 0.017 superfamily_PurM_N-like,tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 113 0 0 77 18 18.9474 MFSD6L 0 genome.wustl.edu 37 17 8700711 8700711 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 8700711 8700711 A G SNP MFSD6L ENST00000329805 human ensembl 74_37 -1 known silent c.1728 p.L576 0.976 NULL superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6L HGNC ENSG00000185156 73 0 0 66 22 25 MPPE1 0 genome.wustl.edu 37 18 11884550 11884550 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 11884550 11884550 C T SNP MPPE1 ENST00000588072 human ensembl 74_37 -1 known missense c.1085 p.C362Y 0.825 NULL pfam_PEstase_dom - no_errors MPPE1 HGNC ENSG00000154889 58 0 0 47 19 28.7879 MC2R 0 genome.wustl.edu 37 18 13885109 13885109 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 13885109 13885109 G A SNP MC2R ENST00000327606 human ensembl 74_37 -1 known missense c.409 p.R137W 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn - no_errors MC2R HGNC ENSG00000185231 55 0 0 41 9 18 GATA6 0 genome.wustl.edu 37 18 19751534 19751534 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 19751534 19751534 G T SNP GATA6 ENST00000269216 human ensembl 74_37 +1 known missense c.429 p.Q143H 1.000 NULL pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA6 HGNC ENSG00000141448 50 0 0 52 14 21.2121 LAMA3 0 genome.wustl.edu 37 18 21399888 21399888 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 21399888 21399888 T C SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.2231 p.L744P 0.968 NULL pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 72 0 0 62 21 25.3012 OSBPL1A 0 genome.wustl.edu 37 18 21819205 21819205 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 21819205 21819205 C T SNP OSBPL1A ENST00000319481 human ensembl 74_37 -1 known missense c.1423 p.E475K 0.995 NULL pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 53 0 0 63 19 23.1707 HRH4 0 genome.wustl.edu 37 18 22057510 22057510 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 22057510 22057510 G A SNP HRH4 ENST00000256906 human ensembl 74_37 +1 known missense c.1157 p.R386Q 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt,prints_GPCR_Rhodpsn - no_errors HRH4 HGNC ENSG00000134489 57 0 0 39 16 29.0909 ZNF521 0 genome.wustl.edu 37 18 22807259 22807259 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 22807259 22807259 C T SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.623 p.R208H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 47 0 0 41 13 24.0741 PSMA8 0 genome.wustl.edu 37 18 23713975 23713975 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 23713975 23713975 G A SNP PSMA8 ENST00000308268 human ensembl 74_37 +1 known missense c.46 p.G16R 1.000 pfam_Proteasome_asu_N,smart_Proteasome_asu_N pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA8 HGNC ENSG00000154611 100 0 0 112 31 21.6783 DSG2 0 genome.wustl.edu 37 18 29116384 29116384 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 29116384 29116384 G A SNP DSG2 ENST00000261590 human ensembl 74_37 +1 known missense c.1643 p.R548H 0.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG2 HGNC ENSG00000046604 27 0 0 31 8 20.5128 ASXL3 0 genome.wustl.edu 37 18 31325875 31325875 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 31325875 31325875 G A SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known silent c.6063 p.P2021 0.019 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 14 0 0 7 7 50 CTIF 0 genome.wustl.edu 37 18 46343596 46343596 + Missense_Mutation SNP A A T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 46343596 46343596 A T SNP CTIF ENST00000382998 human ensembl 74_37 +1 known missense c.1382 p.D461V 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 36 0 0 41 10 19.6078 EPB41L3 0 genome.wustl.edu 37 18 5489081 5489081 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 5489081 5489081 C T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.102 p.P34 0.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 41 0 0 26 11 29.7297 RAX 0 genome.wustl.edu 37 18 56939676 56939676 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 56939676 56939676 C T SNP RAX ENST00000334889 human ensembl 74_37 -1 known missense c.460 p.A154T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors RAX HGNC ENSG00000134438 106 0 0 95 26 21.4876 CDH7 0 genome.wustl.edu 37 18 63511084 63511084 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 63511084 63511084 C T SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.1018 p.R340W 0.111 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 63 0 0 50 22 30.5556 LAMA1 0 genome.wustl.edu 37 18 7008509 7008509 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 7008509 7008509 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.4100 p.G1367D 0.994 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 52 0 0 58 14 19.4444 LRRC30 0 genome.wustl.edu 37 18 7231997 7231997 + Silent SNP C C G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 7231997 7231997 C G SNP LRRC30 ENST00000383467 human ensembl 74_37 +1 known silent c.861 p.G287 0.048 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC30 HGNC ENSG00000206422 264 0 0 259 55 17.5159 ATP9B 0 genome.wustl.edu 37 18 77096655 77096655 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 77096655 77096655 C T SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.2056 p.R686W 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 25 0 0 31 8 20.5128 NDUFV2 0 genome.wustl.edu 37 18 9122625 9122625 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 9122625 9122625 C T SNP NDUFV2 ENST00000318388 human ensembl 74_37 +1 known missense c.415 p.P139S 1.000 pfam_NuoE_like,superfamily_Thioredoxin-like_fold,tigrfam_NuoE_like pfam_NuoE_like,superfamily_Thioredoxin-like_fold,tigrfam_NuoE_like - no_errors NDUFV2 HGNC ENSG00000178127 73 0 0 68 7 9.33333 ICAM5 0 genome.wustl.edu 37 19 10404559 10404559 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 10404559 10404559 C T SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known missense c.1651 p.R551C 0.997 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 97 0 0 93 23 19.8276 ICAM5 0 genome.wustl.edu 37 19 10405144 10405144 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 10405144 10405144 C T SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known silent c.2058 p.S686 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 62 0 0 43 13 23.2143 S1PR5 0 genome.wustl.edu 37 19 10624502 10624502 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 10624502 10624502 C T SNP S1PR5 ENST00000333430 human ensembl 74_37 -1 known missense c.1186 p.A396T 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR5 HGNC ENSG00000180739 88 0 0 62 19 23.4568 CARM1 0 genome.wustl.edu 37 19 11031171 11031171 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 11031171 11031171 G A SNP CARM1 ENST00000327064 human ensembl 74_37 +1 known missense c.1256 p.R419Q 1.000 pfam_Arg_MeTrfase pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11 - no_errors CARM1 HGNC ENSG00000142453 39 0 0 52 17 24.6377 CCDC151 0 genome.wustl.edu 37 19 11537597 11537597 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 11537597 11537597 C T SNP CCDC151 ENST00000356392 human ensembl 74_37 -1 known missense c.620 p.R207Q 1.000 NULL NULL - no_errors CCDC151 HGNC ENSG00000198003 46 0 0 47 9 16.0714 PRKCSH 0 genome.wustl.edu 37 19 11558373 11558373 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 11558373 11558373 A G SNP PRKCSH ENST00000252455 human ensembl 74_37 +1 known silent c.969 p.E323 0.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom - no_errors PRKCSH HGNC ENSG00000130175 15 0 0 19 4 17.3913 ZNF823 0 genome.wustl.edu 37 19 11833452 11833452 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 11833452 11833452 C T SNP ZNF823 ENST00000341191 human ensembl 74_37 -1 known silent c.897 p.T299 0.749 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF823 HGNC ENSG00000197933 66 0 0 49 13 20.9677 ZNF136 0 genome.wustl.edu 37 19 12298591 12298591 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 12298591 12298591 T C SNP ZNF136 ENST00000343979 human ensembl 74_37 +1 known silent c.1398 p.H466 0.749 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF136 HGNC ENSG00000196646 39 0 0 41 6 12.766 C19orf26 0 genome.wustl.edu 37 19 1235563 1235563 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 1235563 1235563 C T SNP C19orf26 ENST00000382477 human ensembl 74_37 -1 known missense c.229 p.A77T 1.000 NULL NULL - no_errors C19orf26 HGNC ENSG00000099625 23 0 0 18 4 18.1818 C19orf24 0 genome.wustl.edu 37 19 1278831 1278831 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 1278831 1278831 G T SNP C19orf24 ENST00000469144 human ensembl 74_37 +1 putative missense c.22 p.G8W 0.000 NULL NULL - no_errors C19orf24 HGNC ENSG00000228300 86 0 0 71 12 14.4578 NFIX 0 genome.wustl.edu 37 19 13189499 13189499 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 13189499 13189499 G A SNP NFIX ENST00000585575 human ensembl 74_37 +1 known missense c.1004 p.R335H 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIX HGNC ENSG00000008441 27 0 0 14 6 30 CACNA1A 0 genome.wustl.edu 37 19 13366055 13366055 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 13366055 13366055 C T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.4609 p.A1537T 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 25 0 0 24 5 17.2414 CACNA1A 0 genome.wustl.edu 37 19 13446716 13446716 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 13446716 13446716 T C SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.986 p.D329G 1.000 pfam_Ion_trans_dom,prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 10 0 0 15 4 21.0526 C19orf57 0 genome.wustl.edu 37 19 14000018 14000018 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 14000018 14000018 C T SNP C19orf57 ENST00000454313 human ensembl 74_37 -1 known missense c.1651 p.E551K 0.003 NULL NULL - no_errors C19orf57 HGNC ENSG00000132016 32 0 0 31 8 20.5128 LPHN1 0 genome.wustl.edu 37 19 14273896 14273896 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 14273896 14273896 G A SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known silent c.732 p.S244 0.998 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like,prints_GPCR_2_latrophilin pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 56 0 0 62 18 22.5 APC2 0 genome.wustl.edu 37 19 1465768 1465768 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 1465768 1465768 G A SNP APC2 ENST00000233607 human ensembl 74_37 +1 known missense c.2468 p.R823H 0.080 NULL pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 12 0 0 10 5 33.3333 EMR3 0 genome.wustl.edu 37 19 14758015 14758015 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 14758015 14758015 G A SNP EMR3 ENST00000253673 human ensembl 74_37 -1 known missense c.860 p.T287M 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97 - no_errors EMR3 HGNC ENSG00000131355 210 0 0 230 63 21.5017 CCDC105 0 genome.wustl.edu 37 19 15132721 15132721 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 15132721 15132721 G A SNP CCDC105 ENST00000292574 human ensembl 74_37 +1 known missense c.1241 p.R414H 0.839 pfam_Tektin pfam_Tektin - no_errors CCDC105 HGNC ENSG00000160994 41 0 0 44 14 24.1379 BRD4 0 genome.wustl.edu 37 19 15353815 15353815 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 15353815 15353815 G A SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known missense c.3065 p.P1022L 0.863 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 13 0 0 8 5 38.4615 MEX3D 0 genome.wustl.edu 37 19 1556571 1556571 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 1556571 1556571 G A SNP MEX3D ENST00000388824 human ensembl 74_37 -1 known missense c.947 p.P316L 0.999 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3D HGNC ENSG00000181588 47 0 0 30 8 21.0526 CYP4F22 0 genome.wustl.edu 37 19 15648369 15648369 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 15648369 15648369 G T SNP CYP4F22 ENST00000269703 human ensembl 74_37 +1 known missense c.445 p.G149C 0.985 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F22 HGNC ENSG00000171954 85 0 0 83 21 20.1923 SIN3B 0 genome.wustl.edu 37 19 16980344 16980344 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 16980344 16980344 G A SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known missense c.1976 p.R659Q 0.903 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 54 0 0 60 13 17.8082 MYO9B 0 genome.wustl.edu 37 19 17308625 17308625 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 17308625 17308625 G A SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known silent c.4071 p.T1357 0.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 107 0 0 90 17 15.8879 USHBP1 0 genome.wustl.edu 37 19 17375099 17375099 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 17375099 17375099 G A SNP USHBP1 ENST00000252597 human ensembl 74_37 -1 known missense c.10 p.R4W 0.991 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC ENSG00000130307 44 0 0 38 10 20.8333 ABHD8 0 genome.wustl.edu 37 19 17411760 17411760 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 17411760 17411760 G A SNP ABHD8 ENST00000247706 human ensembl 74_37 -1 known silent c.666 p.A222 0.897 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ENSG00000127220 165 0 0 138 57 29.2308 ANO8 0 genome.wustl.edu 37 19 17441961 17441961 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 17441961 17441961 G A SNP ANO8 ENST00000159087 human ensembl 74_37 -1 known missense c.767 p.T256M 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 83 0 0 69 8 10.3896 NXNL1 0 genome.wustl.edu 37 19 17571525 17571525 + Missense_Mutation SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 17571525 17571525 G C SNP NXNL1 ENST00000301944 human ensembl 74_37 -1 known missense c.154 p.P52A 0.949 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors NXNL1 HGNC ENSG00000171773 87 0 0 105 25 19.2308 COLGALT1 0 genome.wustl.edu 37 19 17678316 17678316 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 17678316 17678316 G A SNP COLGALT1 ENST00000252599 human ensembl 74_37 +1 known silent c.591 p.A197 0.968 NULL pfam_Glyco_trans_25 - no_errors COLGALT1 HGNC ENSG00000130309 23 0 0 16 6 27.2727 UNC13A 0 genome.wustl.edu 37 19 17752341 17752341 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 17752341 17752341 C T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.2761 p.V921M 0.046 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 49 0 0 64 15 18.9873 MAP1S 0 genome.wustl.edu 37 19 17836789 17836789 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 17836789 17836789 C T SNP MAP1S ENST00000324096 human ensembl 74_37 +1 known missense c.596 p.A199V 0.000 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 36 0 0 25 7 21.875 MAST3 0 genome.wustl.edu 37 19 18245637 18245637 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 18245637 18245637 C T SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known missense c.1628 p.T543M 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 45 0 0 59 10 14.4928 MAST3 0 genome.wustl.edu 37 19 18249842 18249842 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 18249842 18249842 C T SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known missense c.2026 p.R676C 1.000 superfamily_Kinase-like_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 11 0 0 7 5 41.6667 LRRC25 0 genome.wustl.edu 37 19 18507561 18507561 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 18507561 18507561 G A SNP LRRC25 ENST00000339007 human ensembl 74_37 -1 known silent c.213 p.N71 0.000 NULL NULL - no_errors LRRC25 HGNC ENSG00000175489 49 0 0 38 18 32.1429 SSBP4 0 genome.wustl.edu 37 19 18545051 18545051 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 18545051 18545051 G A SNP SSBP4 ENST00000270061 human ensembl 74_37 +1 known missense c.1153 p.V385M 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP4 HGNC ENSG00000130511 102 0 0 70 21 23.0769 ABHD17A 0 genome.wustl.edu 37 19 1881329 1881329 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 1881329 1881329 G A SNP ABHD17A ENST00000250974 human ensembl 74_37 -1 known silent c.237 p.S79 0.998 NULL pfam_Dienelactn_hydro - no_errors ABHD17A HGNC ENSG00000129968 65 0 0 72 5 6.49351 DDX49 0 genome.wustl.edu 37 19 19032503 19032503 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 19032503 19032503 C T SNP DDX49 ENST00000247003 human ensembl 74_37 +1 known missense c.271 p.R91W 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX49 HGNC ENSG00000105671 117 0 0 98 24 19.6721 SUGP1 0 genome.wustl.edu 37 19 19387471 19387471 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 19387471 19387471 G A SNP SUGP1 ENST00000247001 human ensembl 74_37 -1 known missense c.1924 p.R642W 0.689 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP1 HGNC ENSG00000105705 47 0 0 49 11 18.3333 GATAD2A 0 genome.wustl.edu 37 19 19606876 19606876 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 19606876 19606876 A G SNP GATAD2A ENST00000358713 human ensembl 74_37 +1 known missense c.772 p.R258G 1.000 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2A HGNC ENSG00000167491 58 0 0 39 10 20.4082 TSSK6 0 genome.wustl.edu 37 19 19625931 19625931 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 19625931 19625931 C T SNP TSSK6 ENST00000360913 human ensembl 74_37 -1 known silent c.306 p.Q102 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TSSK6 HGNC ENSG00000178093 94 0 0 74 23 23.7113 BTBD2 0 genome.wustl.edu 37 19 1997459 1997459 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 1997459 1997459 G A SNP BTBD2 ENST00000255608 human ensembl 74_37 -1 known silent c.411 p.F137 0.866 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD2 HGNC ENSG00000133243 183 0 0 178 41 18.7215 ZNF682 0 genome.wustl.edu 37 19 20117672 20117672 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 20117672 20117672 G A SNP ZNF682 ENST00000397165 human ensembl 74_37 -1 known silent c.639 p.F213 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF682 HGNC ENSG00000197124 31 0 0 31 7 18.4211 ZNF493 0 genome.wustl.edu 37 19 21606889 21606889 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 21606889 21606889 T C SNP ZNF493 ENST00000355504 human ensembl 74_37 +1 known silent c.1044 p.L348 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 37 0 0 35 4 10.2564 DOT1L 0 genome.wustl.edu 37 19 2216631 2216631 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 2216631 2216631 C T SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known missense c.2275 p.R759C 0.018 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 123 0 0 97 19 16.3793 LOC440518 0 genome.wustl.edu 37 19 22784189 22784189 + RNA SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 22784189 22784189 A C SNP LOC440518 ENST00000597408 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTC-457E21.3 Clone_based_vega_gene ENSG00000269332 15 0 0 12 4 25 SPPL2B 0 genome.wustl.edu 37 19 2339114 2339114 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 2339114 2339114 C T SNP SPPL2B ENST00000382189 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPPL2B HGNC ENSG00000005206 8 0 0 5 5 50 ZNF675 0 genome.wustl.edu 37 19 23844986 23844986 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 23844986 23844986 C T SNP ZNF675 ENST00000359788 human ensembl 74_37 -1 known silent c.156 p.L52 0.259 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 ZNF675 HGNC ENSG00000197372 84 0 0 101 27 21.0938 ZNF536 0 genome.wustl.edu 37 19 31039609 31039609 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 31039609 31039609 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.3083 p.A1028V 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 54 0 0 68 25 26.8817 PEPD 0 genome.wustl.edu 37 19 33892708 33892708 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 33892708 33892708 C T SNP PEPD ENST00000244137 human ensembl 74_37 -1 known missense c.886 p.G296S 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors PEPD HGNC ENSG00000124299 33 0 0 23 8 25.8065 FFAR1 0 genome.wustl.edu 37 19 35842806 35842806 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 35842806 35842806 C T SNP FFAR1 ENST00000246553 human ensembl 74_37 +1 known missense c.352 p.R118W 0.984 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR40_recept_FA pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR40_recept_FA,prints_GPR40-rel_orph,prints_GPCR_Rhodpsn - no_errors FFAR1 HGNC ENSG00000126266 76 0 0 79 18 18.5567 KIRREL2 0 genome.wustl.edu 37 19 36357143 36357143 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 36357143 36357143 C T SNP KIRREL2 ENST00000360202 human ensembl 74_37 +1 known missense c.1876 p.P626S 0.635 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 104 0 0 89 31 25.8333 LRFN3 0 genome.wustl.edu 37 19 36430697 36430697 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 36430697 36430697 G A SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.370 p.E124K 0.979 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 58 0 0 50 7 12.2807 LRFN3 0 genome.wustl.edu 37 19 36430710 36430710 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 36430710 36430710 G A SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.383 p.R128H 0.892 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 66 0 0 54 10 15.625 TJP3 0 genome.wustl.edu 37 19 3750145 3750145 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 3750145 3750145 C T SNP TJP3 ENST00000262968 human ensembl 74_37 +1 known missense c.2719 p.R907C 0.000 NULL pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 184 1 0.540541 168 42 20 KCNK6 0 genome.wustl.edu 37 19 38817501 38817501 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 38817501 38817501 G T SNP KCNK6 ENST00000263372 human ensembl 74_37 +1 known missense c.591 p.E197D 0.674 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK2,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK1 - no_errors KCNK6 HGNC ENSG00000099337 299 1 0.333333 208 76 26.7606 GGN 0 genome.wustl.edu 37 19 38876168 38876168 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 38876168 38876168 G A SNP GGN ENST00000334928 human ensembl 74_37 -1 known silent c.1734 p.R578 0.000 NULL NULL - no_errors GGN HGNC ENSG00000179168 37 0 0 37 10 21.2766 RYR1 0 genome.wustl.edu 37 19 38964152 38964152 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 38964152 38964152 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.3901 p.R1301C 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 30 0 0 36 9 20 ACTN4 0 genome.wustl.edu 37 19 39214320 39214320 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 39214320 39214320 C T SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known silent c.1509 p.D503 0.062 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 28 0 0 18 7 28 DAPK3 0 genome.wustl.edu 37 19 3959300 3959300 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 3959300 3959300 G A SNP DAPK3 ENST00000301264 human ensembl 74_37 -1 known silent c.1164 p.T388 0.169 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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 DAPK3 HGNC ENSG00000167657 21 0 0 21 4 16 PAPL 0 genome.wustl.edu 37 19 39597645 39597645 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 39597645 39597645 G A SNP PAPL ENST00000331256 human ensembl 74_37 +1 known missense c.1172 p.R391H 0.999 NULL pfam_PEstase_dom,superfamily_Purple_acid_Pase-like_N - no_errors PAPL Uniprot_gn ENSG00000183760 82 0 0 55 20 26.6667 DLL3 0 genome.wustl.edu 37 19 39997957 39997957 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 39997957 39997957 G A SNP DLL3 ENST00000205143 human ensembl 74_37 +1 known missense c.1372 p.G458S 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLL3 HGNC ENSG00000090932 8 0 0 10 4 28.5714 CYP2S1 0 genome.wustl.edu 37 19 41704642 41704642 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 41704642 41704642 G A SNP CYP2S1 ENST00000310054 human ensembl 74_37 +1 known missense c.683 p.R228Q 0.009 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC ENSG00000167600 131 0 0 111 30 21.2766 TMEM91 0 genome.wustl.edu 37 19 41889793 41889793 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 41889793 41889793 C A SNP TMEM91 ENST00000413014 human ensembl 74_37 +1 known missense c.386 p.P129H 0.908 NULL pfam_CD225/Dispanin_fam - no_errors TMEM91 HGNC ENSG00000142046 43 0 0 27 16 37.2093 CEACAM5 0 genome.wustl.edu 37 19 42219621 42219621 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 42219621 42219621 G A SNP CEACAM5 ENST00000221992 human ensembl 74_37 +1 known silent c.756 p.G252 0.109 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM5 HGNC ENSG00000105388 55 0 0 63 19 23.1707 DEDD2 0 genome.wustl.edu 37 19 42703739 42703739 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 42703739 42703739 C T SNP DEDD2 ENST00000595337 human ensembl 74_37 -1 known missense c.832 p.V278M 1.000 NULL pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED - no_errors DEDD2 HGNC ENSG00000160570 65 0 0 63 17 21.25 PSG3 0 genome.wustl.edu 37 19 43236967 43236967 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 43236967 43236967 G A SNP PSG3 ENST00000327495 human ensembl 74_37 -1 known silent c.678 p.S226 0.001 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 398 0 0 479 53 9.96241 SHC2 0 genome.wustl.edu 37 19 434721 434721 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 434721 434721 C T SNP SHC2 ENST00000264554 human ensembl 74_37 -1 known silent c.1098 p.T366 0.000 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC2 HGNC ENSG00000129946 52 0 0 47 9 16.0714 SH3GL1 0 genome.wustl.edu 37 19 4364212 4364212 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 4364212 4364212 G A SNP SH3GL1 ENST00000269886 human ensembl 74_37 -1 known missense c.338 p.A113V 1.000 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC ENSG00000141985 99 0 0 99 8 7.47664 ZNF225 0 genome.wustl.edu 37 19 44636736 44636736 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 44636736 44636736 T C SNP ZNF225 ENST00000262894 human ensembl 74_37 +1 known missense c.1969 p.C657R 0.588 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF225 HGNC ENSG00000256294 27 0 0 38 9 19.1489 PLIN5 0 genome.wustl.edu 37 19 4525740 4525740 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 4525740 4525740 G A SNP PLIN5 ENST00000381848 human ensembl 74_37 -1 known missense c.625 p.R209C 1.000 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN5 HGNC ENSG00000214456 93 0 0 72 27 27.2727 FBXO46 0 genome.wustl.edu 37 19 46215695 46215695 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 46215695 46215695 C T SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known silent c.1059 p.P353 0.023 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 41 0 0 31 9 22.5 DMWD 0 genome.wustl.edu 37 19 46289465 46289465 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 46289465 46289465 C T SNP DMWD ENST00000270223 human ensembl 74_37 -1 known missense c.1289 p.R430H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMWD HGNC ENSG00000185800 39 0 0 18 3 14.2857 SYMPK 0 genome.wustl.edu 37 19 46355587 46355587 + Silent SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 46355587 46355587 G C SNP SYMPK ENST00000245934 human ensembl 74_37 -1 known silent c.282 p.G94 1.000 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 217 0 0 155 57 26.8868 TNFAIP8L1 0 genome.wustl.edu 37 19 4652233 4652233 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 4652233 4652233 G A SNP TNFAIP8L1 ENST00000327473 human ensembl 74_37 +1 known missense c.352 p.A118T 0.211 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8L1 HGNC ENSG00000185361 11 0 0 6 3 33.3333 C19orf10 0 genome.wustl.edu 37 19 4659964 4659964 + Missense_Mutation SNP A A T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 4659964 4659964 A T SNP C19orf10 ENST00000262947 human ensembl 74_37 -1 known missense c.421 p.F141I 0.986 pfam_UPF0556 pfam_UPF0556 - no_errors C19orf10 HGNC ENSG00000074842 118 0 0 121 34 21.9355 DHX34 0 genome.wustl.edu 37 19 47858312 47858312 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 47858312 47858312 G A SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known missense c.722 p.R241H 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 113 0 0 97 33 25.3846 DHX34 0 genome.wustl.edu 37 19 47883016 47883016 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 47883016 47883016 G A SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known missense c.2756 p.R919H 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 189 0 0 155 41 20.9184 SLC8A2 0 genome.wustl.edu 37 19 47951328 47951328 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 47951328 47951328 G A SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known missense c.1501 p.R501W 0.993 tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 12 0 0 3 4 57.1429 SULT2A1 0 genome.wustl.edu 37 19 48386832 48386832 + Splice_Site SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 48386832 48386832 A G SNP SULT2A1 ENST00000222002 human ensembl 74_37 -1 known splice_site c.345+2 e2+2 1.000 - - - no_errors SULT2A1 HGNC ENSG00000105398 50 0 0 46 11 19.2982 ZNF114 0 genome.wustl.edu 37 19 48789111 48789111 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 48789111 48789111 C T SNP ZNF114 ENST00000315849 human ensembl 74_37 +1 known missense c.230 p.T77M 0.000 pfscan_Krueppel-associated_box 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 ZNF114 HGNC ENSG00000178150 105 0 0 82 30 26.7857 KCNJ14 0 genome.wustl.edu 37 19 48965355 48965355 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 48965355 48965355 C T SNP KCNJ14 ENST00000342291 human ensembl 74_37 +1 known missense c.374 p.A125V 0.986 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir - no_errors KCNJ14 HGNC ENSG00000182324 19 0 0 18 4 18.1818 FAM83E 0 genome.wustl.edu 37 19 49107079 49107079 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 49107079 49107079 G A SNP FAM83E ENST00000263266 human ensembl 74_37 -1 known missense c.848 p.T283M 0.938 pfam_DUF1669 pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 79 0 0 78 18 18.75 TRPM4 0 genome.wustl.edu 37 19 49686364 49686364 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 49686364 49686364 G A SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known silent c.1638 p.S546 0.000 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 51 0 0 40 14 25.9259 AP2A1 0 genome.wustl.edu 37 19 50308757 50308757 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 50308757 50308757 G A SNP AP2A1 ENST00000354293 human ensembl 74_37 +1 known missense c.2392 p.A798T 1.000 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 10 0 0 6 5 45.4545 MYH14 0 genome.wustl.edu 37 19 50753885 50753885 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 50753885 50753885 C T SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known silent c.1770 p.F590 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 53 0 0 61 10 14.0845 MYH14 0 genome.wustl.edu 37 19 50780037 50780037 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 50780037 50780037 C T SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.3704 p.T1235M 0.998 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 131 0 0 94 16 14.5455 MYBPC2 0 genome.wustl.edu 37 19 50961915 50961915 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 50961915 50961915 G A SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known missense c.2410 p.G804R 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 60 0 0 45 18 28.5714 EMC10 0 genome.wustl.edu 37 19 50985188 50985188 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 50985188 50985188 C A SNP EMC10 ENST00000376918 human ensembl 74_37 +1 known missense c.749 p.P250Q 0.001 NULL NULL - no_errors EMC10 HGNC ENSG00000161671 19 0 0 14 3 17.6471 SYT3 0 genome.wustl.edu 37 19 51128721 51128721 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 51128721 51128721 C T SNP SYT3 ENST00000338916 human ensembl 74_37 -1 known silent c.1503 p.A501 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT3 HGNC ENSG00000213023 13 0 0 5 4 44.4444 KDM4B 0 genome.wustl.edu 37 19 5143999 5143999 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 5143999 5143999 C T SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.2572 p.R858W 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 109 0 0 85 17 16.6667 ETFB 0 genome.wustl.edu 37 19 51857746 51857746 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 51857746 51857746 A G SNP ETFB ENST00000354232 human ensembl 74_37 -1 known silent c.147 p.G49 0.000 NULL pfam_ETF_a/b_N,smart_ETF_a/b_N - no_errors ETFB HGNC ENSG00000105379 84 0 0 75 12 13.7931 SIGLEC12 0 genome.wustl.edu 37 19 52003234 52003234 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 52003234 52003234 C T SNP SIGLEC12 ENST00000291707 human ensembl 74_37 -1 known missense c.748 p.V250M 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC12 HGNC ENSG00000254521 80 0 0 70 12 14.6341 PTPRS 0 genome.wustl.edu 37 19 5246039 5246039 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 5246039 5246039 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.739 p.R247C 0.997 pfam_Ig_I-set,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,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 10 0 0 6 5 45.4545 ZNF614 0 genome.wustl.edu 37 19 52519392 52519392 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 52519392 52519392 C T SNP ZNF614 ENST00000270649 human ensembl 74_37 -1 known missense c.1459 p.E487K 0.312 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF614 HGNC ENSG00000142556 153 0 0 157 35 18.2292 ZNF616 0 genome.wustl.edu 37 19 52618100 52618100 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 52618100 52618100 T C SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known missense c.2317 p.T773A 0.009 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 ZNF616 HGNC ENSG00000204611 67 0 0 61 16 20.7792 ZNF616 0 genome.wustl.edu 37 19 52618714 52618714 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 52618714 52618714 C T SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known missense c.1703 p.R568Q 0.042 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF616 HGNC ENSG00000204611 44 0 0 48 17 26.1538 ZNF160 0 genome.wustl.edu 37 19 53577421 53577421 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 53577421 53577421 C T SNP ZNF160 ENST00000418871 human ensembl 74_37 -1 known silent c.243 p.T81 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF160 HGNC ENSG00000170949 155 0 0 113 40 26.1438 ZNF761 0 genome.wustl.edu 37 19 53958524 53958524 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 53958524 53958524 C T SNP ZNF761 ENST00000334095 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ZNF761 HGNC ENSG00000160336 123 0 0 129 33 20.3704 NLRP12 0 genome.wustl.edu 37 19 54299266 54299266 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 54299266 54299266 A G SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.2945 p.L982P 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 42 0 0 40 8 16.6667 LILRA4 0 genome.wustl.edu 37 19 54844948 54844948 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 54844948 54844948 A G SNP LILRA4 ENST00000291759 human ensembl 74_37 -1 known silent c.1395 p.F465 0.000 pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA4 HGNC ENSG00000239961 59 0 0 54 20 27.027 LILRA4 0 genome.wustl.edu 37 19 54849873 54849873 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 54849873 54849873 T C SNP LILRA4 ENST00000291759 human ensembl 74_37 -1 known missense c.149 p.Q50R 0.964 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA4 HGNC ENSG00000239961 109 0 0 117 33 22 LILRB1 0 genome.wustl.edu 37 19 55147949 55147949 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 55147949 55147949 G T SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known missense c.1658 p.S553I 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 59 0 0 46 11 19.2982 RDH13 0 genome.wustl.edu 37 19 55560098 55560098 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 55560098 55560098 G A SNP RDH13 ENST00000415061 human ensembl 74_37 -1 known missense c.374 p.A125V 0.999 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH13 HGNC ENSG00000160439 51 0 0 44 15 25.4237 SUV420H2 0 genome.wustl.edu 37 19 55853392 55853392 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 55853392 55853392 C T SNP SUV420H2 ENST00000255613 human ensembl 74_37 +1 known missense c.88 p.R30C 0.996 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H2 HGNC ENSG00000133247 128 0 0 87 28 24.3478 UBE2S 0 genome.wustl.edu 37 19 55912953 55912953 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 55912953 55912953 C A SNP UBE2S ENST00000264552 human ensembl 74_37 -1 known missense c.520 p.G174C 0.332 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2S HGNC ENSG00000108106 40 0 0 33 9 21.4286 EPN1 0 genome.wustl.edu 37 19 56196848 56196848 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 56196848 56196848 G A SNP EPN1 ENST00000411543 human ensembl 74_37 +1 known silent c.648 p.T216 0.985 pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 29 0 0 30 5 14.2857 EPN1 0 genome.wustl.edu 37 19 56197004 56197004 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 56197004 56197004 C T SNP EPN1 ENST00000411543 human ensembl 74_37 +1 known silent c.804 p.T268 0.032 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 16 0 0 11 3 21.4286 NLRP9 0 genome.wustl.edu 37 19 56243921 56243921 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 56243921 56243921 C T SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.1276 p.V426M 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 147 0 0 119 37 23.7179 ZNF134 0 genome.wustl.edu 37 19 58131654 58131654 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 58131654 58131654 G A SNP ZNF134 ENST00000396161 human ensembl 74_37 +1 known missense c.167 p.G56D 0.001 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF134 HGNC ENSG00000213762 135 0 0 128 32 20 ZNF814 0 genome.wustl.edu 37 19 58384744 58384744 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 58384744 58384744 T C SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.2014 p.K672E 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 18 0 0 14 3 17.6471 ZNF606 0 genome.wustl.edu 37 19 58490395 58490395 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 58490395 58490395 G A SNP ZNF606 ENST00000341164 human ensembl 74_37 -1 known silent c.1653 p.D551 0.038 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF606 HGNC ENSG00000166704 57 0 0 54 4 6.89655 ZNF329 0 genome.wustl.edu 37 19 58639337 58639337 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 58639337 58639337 G A SNP ZNF329 ENST00000358067 human ensembl 74_37 -1 known missense c.1534 p.R512W 0.150 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 165 0 0 167 11 6.17978 ZNF324B 0 genome.wustl.edu 37 19 58967726 58967726 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 58967726 58967726 G A SNP ZNF324B ENST00000336614 human ensembl 74_37 +1 known missense c.1415 p.R472Q 0.165 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF324B HGNC ENSG00000249471 137 0 0 106 18 14.5161 SLC27A5 0 genome.wustl.edu 37 19 59012770 59012770 + Silent SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 59012770 59012770 G T SNP SLC27A5 ENST00000263093 human ensembl 74_37 -1 known silent c.1065 p.T355 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC ENSG00000083807 89 0 0 63 23 26.7442 TUBB4A 0 genome.wustl.edu 37 19 6495673 6495673 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 6495673 6495673 C T SNP TUBB4A ENST00000264071 human ensembl 74_37 -1 known silent c.837 p.Q279 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB4A HGNC ENSG00000104833 122 0 0 128 17 11.7241 TRIP10 0 genome.wustl.edu 37 19 6751164 6751164 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 6751164 6751164 G A SNP TRIP10 ENST00000313244 human ensembl 74_37 +1 known missense c.1748 p.R583Q 1.000 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 143 0 0 133 32 19.3939 CAMSAP3 0 genome.wustl.edu 37 19 7676008 7676008 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 7676008 7676008 G A SNP CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known silent c.1158 p.P386 0.914 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 102 0 0 109 31 22.1429 CAMSAP3 0 genome.wustl.edu 37 19 7682929 7682929 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 7682929 7682929 G A SNP CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known missense c.3817 p.G1273S 0.223 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 80 0 0 89 23 20.5357 XAB2 0 genome.wustl.edu 37 19 7690850 7690850 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 7690850 7690850 C A SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known silent c.738 p.G246 0.925 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 71 0 0 73 10 12.0482 TRAPPC5 0 genome.wustl.edu 37 19 7747586 7747586 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 7747586 7747586 G A SNP TRAPPC5 ENST00000317378 human ensembl 74_37 +1 known silent c.447 p.A149 0.532 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_su5 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_su5 - no_errors TRAPPC5 HGNC ENSG00000181029 27 0 0 24 4 14.2857 CLEC4G 0 genome.wustl.edu 37 19 7794352 7794352 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 7794352 7794352 C T SNP CLEC4G ENST00000328853 human ensembl 74_37 -1 known missense c.782 p.R261H 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4G HGNC ENSG00000182566 59 0 0 50 17 25.3731 MAP2K7 0 genome.wustl.edu 37 19 7976205 7976205 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 7976205 7976205 G A SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.1052 p.G351D 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K7 HGNC ENSG00000076984 93 0 0 95 25 20.8333 PTBP1 0 genome.wustl.edu 37 19 804376 804376 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 804376 804376 C T SNP PTBP1 ENST00000356948 human ensembl 74_37 +1 known missense c.373 p.P125S 1.000 smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 67 0 0 61 10 14.0845 AZU1 0 genome.wustl.edu 37 19 828314 828314 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 828314 828314 G A SNP AZU1 ENST00000233997 human ensembl 74_37 +1 known missense c.143 p.G48D 0.008 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors AZU1 HGNC ENSG00000172232 190 0 0 153 26 14.5251 KANK3 0 genome.wustl.edu 37 19 8398020 8398020 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 8398020 8398020 C T SNP KANK3 ENST00000593649 human ensembl 74_37 -1 known missense c.1814 p.R605K 0.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors KANK3 HGNC ENSG00000186994 36 0 0 22 8 26.6667 OR7G1 0 genome.wustl.edu 37 19 9226033 9226033 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 9226033 9226033 A G SNP OR7G1 ENST00000293614 human ensembl 74_37 -1 known missense c.407 p.M136T 1.000 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 OR7G1 HGNC ENSG00000161807 87 0 0 82 5 5.74713 ZNF426 0 genome.wustl.edu 37 19 9639674 9639674 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 9639674 9639674 C T SNP ZNF426 ENST00000253115 human ensembl 74_37 -1 known silent c.1047 p.S349 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF426 HGNC ENSG00000130818 48 0 0 57 12 17.3913 OLFM2 0 genome.wustl.edu 37 19 9967586 9967586 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 9967586 9967586 C T SNP OLFM2 ENST00000264833 human ensembl 74_37 -1 known missense c.584 p.C195Y 1.000 pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM2 HGNC ENSG00000105088 15 0 0 15 5 25 RRM2 0 genome.wustl.edu 37 2 10263175 10263175 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 10263175 10263175 C A SNP RRM2 ENST00000360566 human ensembl 74_37 +1 known silent c.345 p.P115 0.021 NULL pfam_RNR_small,superfamily_Ferritin-like_SF - no_errors RRM2 HGNC ENSG00000171848 11 0 0 11 3 21.4286 POU3F3 0 genome.wustl.edu 37 2 105472922 105472922 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 105472922 105472922 G A SNP POU3F3 ENST00000361360 human ensembl 74_37 +1 known silent c.954 p.T318 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,pfscan_POU_specific pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F3 HGNC ENSG00000198914 58 0 0 29 19 39.5833 POU3F3 0 genome.wustl.edu 37 2 105473431 105473431 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 105473431 105473431 C T SNP POU3F3 ENST00000361360 human ensembl 74_37 +1 known missense c.1463 p.T488M 1.000 pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F3 HGNC ENSG00000198914 35 0 0 25 5 16.6667 SLC5A7 0 genome.wustl.edu 37 2 108614308 108614308 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 108614308 108614308 G A SNP SLC5A7 ENST00000264047 human ensembl 74_37 +1 known missense c.463 p.V155M 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter - no_errors SLC5A7 HGNC ENSG00000115665 187 0 0 193 47 19.5833 SH3RF3 0 genome.wustl.edu 37 2 109964324 109964324 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 109964324 109964324 C T SNP SH3RF3 ENST00000309415 human ensembl 74_37 +1 known silent c.768 p.H256 0.154 superfamily_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,prints_p67phox,pfscan_SH3_domain,pfscan_Znf_RING - no_errors SH3RF3 HGNC ENSG00000172985 24 0 0 22 3 12 FOXD4L1 0 genome.wustl.edu 37 2 114257336 114257336 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 114257336 114257336 T C SNP FOXD4L1 ENST00000306507 human ensembl 74_37 +1 known missense c.503 p.I168T 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC ENSG00000184492 486 0 0 479 108 18.3986 GREB1 0 genome.wustl.edu 37 2 11780527 11780527 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 11780527 11780527 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.5797 p.A1933T 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 114 0 0 109 22 16.7939 EN1 0 genome.wustl.edu 37 2 119604338 119604338 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 119604338 119604338 C T SNP EN1 ENST00000295206 human ensembl 74_37 -1 known missense c.406 p.A136T 0.217 NULL pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4 - no_errors EN1 HGNC ENSG00000163064 78 0 0 57 8 12.3077 MARCO 0 genome.wustl.edu 37 2 119726815 119726815 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 119726815 119726815 C T SNP MARCO ENST00000327097 human ensembl 74_37 +1 known silent c.177 p.G59 0.000 NULL pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 76 0 0 90 30 25 TFCP2L1 0 genome.wustl.edu 37 2 121992863 121992863 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 121992863 121992863 C T SNP TFCP2L1 ENST00000263707 human ensembl 74_37 -1 known missense c.1028 p.R343Q 0.999 superfamily_SAM/pointed pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2L1 HGNC ENSG00000115112 66 0 0 78 17 17.8947 WDR33 0 genome.wustl.edu 37 2 128467288 128467288 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 128467288 128467288 G A SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known nonsense c.3451 p.R1151* 0.995 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 144 1 0.689655 136 35 20.4678 SMPD4 0 genome.wustl.edu 37 2 130930891 130930891 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 130930891 130930891 A G SNP SMPD4 ENST00000409031 human ensembl 74_37 -1 known silent c.423 p.A141 1.000 NULL NULL - no_errors SMPD4 HGNC ENSG00000136699 114 0 0 102 31 23.3083 AMER3 0 genome.wustl.edu 37 2 131520179 131520179 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 131520179 131520179 G A SNP AMER3 ENST00000321420 human ensembl 74_37 +1 known silent c.534 p.A178 0.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 115 0 0 87 17 16.3462 ARHGEF4 0 genome.wustl.edu 37 2 131797695 131797695 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 131797695 131797695 G A SNP ARHGEF4 ENST00000326016 human ensembl 74_37 +1 known missense c.854 p.R285Q 1.000 superfamily_DH-domain,superfamily_SH3_domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF4 HGNC ENSG00000136002 32 0 0 32 12 27.2727 POTEE 0 genome.wustl.edu 37 2 132010512 132010512 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 132010512 132010512 G A SNP POTEE ENST00000356920 human ensembl 74_37 +1 known missense c.1618 p.E540K 0.010 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 97 0 0 97 14 12.6126 NCKAP5 0 genome.wustl.edu 37 2 133542671 133542671 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 133542671 133542671 G A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known silent c.1713 p.G571 0.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 72 0 0 80 18 18.3673 THSD7B 0 genome.wustl.edu 37 2 137852593 137852593 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 137852593 137852593 C T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known silent c.1101 p.N367 0.007 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 55 0 0 53 8 13.1148 ACVR2A 0 genome.wustl.edu 37 2 148654069 148654069 + Nonsense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 148654069 148654069 C A SNP ACVR2A ENST00000241416 human ensembl 74_37 +1 known nonsense c.255 p.C85* 1.000 pfam_Activin_rcpt,prints_TGFB_receptor pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 56 0 0 69 21 23.3333 KIF5C 0 genome.wustl.edu 37 2 149679726 149679726 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 149679726 149679726 C T SNP KIF5C ENST00000435030 human ensembl 74_37 +1 known silent c.147 p.F49 0.927 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 26 0 0 27 10 27.027 NBAS 0 genome.wustl.edu 37 2 15614418 15614418 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 15614418 15614418 G A SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.1372 p.R458C 1.000 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 31 0 0 24 9 27.2727 TANC1 0 genome.wustl.edu 37 2 160028692 160028692 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 160028692 160028692 G T SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.1412 p.S471I 0.861 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 59 0 0 60 13 17.8082 TANC1 0 genome.wustl.edu 37 2 160087129 160087129 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 160087129 160087129 C T SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.5192 p.A1731V 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 140 0 0 157 37 19.0722 TBR1 0 genome.wustl.edu 37 2 162273011 162273011 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 162273011 162273011 C T SNP TBR1 ENST00000389554 human ensembl 74_37 +1 known silent c.90 p.S30 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 59 0 0 58 15 20.5479 ABCB11 0 genome.wustl.edu 37 2 169842772 169842772 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 169842772 169842772 C T SNP ABCB11 ENST00000263817 human ensembl 74_37 -1 known missense c.931 p.A311T 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB11 HGNC ENSG00000073734 85 0 0 112 27 19.4245 PPIG 0 genome.wustl.edu 37 2 170462563 170462563 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 170462563 170462563 G A SNP PPIG ENST00000260970 human ensembl 74_37 +1 known missense c.151 p.G51R 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 67 0 0 60 10 14.2857 UBR3 0 genome.wustl.edu 37 2 170863622 170863622 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 170863622 170863622 G A SNP UBR3 ENST00000272793 human ensembl 74_37 +1 known nonsense c.4152 p.W1384* 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 35 0 0 28 5 15.1515 CIR1 0 genome.wustl.edu 37 2 175213408 175213408 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 175213408 175213408 G A SNP CIR1 ENST00000342016 human ensembl 74_37 -1 known silent c.1170 p.S390 0.991 NULL pfam_CIR_N_dom,superfamily_Znf_CCHC - no_errors CIR1 HGNC ENSG00000138433 164 0 0 130 43 24.8555 HOXD1 0 genome.wustl.edu 37 2 177053883 177053883 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 177053883 177053883 G A SNP HOXD1 ENST00000331462 human ensembl 74_37 +1 known silent c.354 p.P118 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD1 HGNC ENSG00000128645 22 0 0 15 3 16.6667 TTN 0 genome.wustl.edu 37 2 179455557 179455557 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 179455557 179455557 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.53191 p.G17731S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,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 79 0 0 84 21 20 TTN 0 genome.wustl.edu 37 2 179517034 179517034 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 179517034 179517034 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.31866 p.V10622 0.000 superfamily_Calpain_domain_III,superfamily_RNaseH-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 289 0 0 341 22 6.06061 TTN 0 genome.wustl.edu 37 2 179611301 179611301 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 179611301 179611301 C T SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.15826 p.E5276K 0.042 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 34 0 0 42 15 26.3158 TTN 0 genome.wustl.edu 37 2 179650443 179650443 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 179650443 179650443 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.2397 p.T799 0.009 superfamily_RNaseH-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 60 0 0 59 7 10.6061 NEUROD1 0 genome.wustl.edu 37 2 182543157 182543157 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 182543157 182543157 C T SNP NEUROD1 ENST00000295108 human ensembl 74_37 -1 known missense c.431 p.R144H 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 71 0 0 86 24 21.8182 MYT1L 0 genome.wustl.edu 37 2 1890329 1890329 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 1890329 1890329 G A SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.2693 p.T898I 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 49 0 0 39 16 29.0909 COL5A2 0 genome.wustl.edu 37 2 189923219 189923219 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 189923219 189923219 G T SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known missense c.2165 p.P722H 0.996 NULL 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 COL5A2 HGNC ENSG00000204262 46 0 0 53 9 14.5161 MYT1L 0 genome.wustl.edu 37 2 1926428 1926428 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 1926428 1926428 C T SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known silent c.1113 p.T371 0.912 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 27 0 0 26 10 27.7778 MYT1L 0 genome.wustl.edu 37 2 1926821 1926821 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 1926821 1926821 G A SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known silent c.720 p.N240 0.995 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 94 0 0 102 12 10.5263 MARS2 0 genome.wustl.edu 37 2 198570341 198570341 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 198570341 198570341 C T SNP MARS2 ENST00000282276 human ensembl 74_37 +1 known missense c.212 p.A71V 0.941 pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS2 HGNC ENSG00000247626 31 0 0 33 7 17.5 SGOL2 0 genome.wustl.edu 37 2 201436466 201436466 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 201436466 201436466 A C SNP SGOL2 ENST00000357799 human ensembl 74_37 +1 known missense c.1397 p.Q466P 0.004 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 224 0 0 193 62 24.3137 AOX1 0 genome.wustl.edu 37 2 201515800 201515800 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 201515800 201515800 C T SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known missense c.2951 p.S984F 1.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 94 0 0 106 34 24.2857 GPR1 0 genome.wustl.edu 37 2 207041026 207041026 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 207041026 207041026 G A SNP GPR1 ENST00000407325 human ensembl 74_37 -1 known missense c.946 p.R316W 0.699 prints_GPR1_orph_rcpt,prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR1_orph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_ATII_rcpt - no_errors GPR1 HGNC ENSG00000183671 90 0 0 84 24 22.2222 MDH1B 0 genome.wustl.edu 37 2 207620231 207620231 + Splice_Site SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 207620231 207620231 T C SNP MDH1B ENST00000374412 human ensembl 74_37 -1 known splice_site c.414-2 e5-2 1.000 - - - no_errors MDH1B HGNC ENSG00000138400 62 0 0 53 14 20.8955 MAP2 0 genome.wustl.edu 37 2 210557554 210557554 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 210557554 210557554 A G SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.660 p.K220 0.000 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 66 0 0 85 20 19.0476 CPS1 0 genome.wustl.edu 37 2 211464179 211464179 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 211464179 211464179 T C SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known silent c.1461 p.T487 0.107 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 71 0 0 81 28 25.6881 ERBB4 0 genome.wustl.edu 37 2 212989586 212989586 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 212989586 212989586 A G SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.125 p.L42P 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 62 0 0 62 16 20.5128 FN1 0 genome.wustl.edu 37 2 216245734 216245734 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 216245734 216245734 C T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.5234 p.S1745N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 91 0 0 80 24 23.0769 FN1 0 genome.wustl.edu 37 2 216271857 216271857 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 216271857 216271857 T C SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.2706 p.P902 0.012 NULL pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 72 0 0 55 31 36.0465 TNS1 0 genome.wustl.edu 37 2 218762676 218762676 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 218762676 218762676 G A SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.13 p.R5W 0.973 pfscan_Phosphatase_tensin-typ pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 42 0 0 30 8 21.0526 ZNF142 0 genome.wustl.edu 37 2 219513771 219513771 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 219513771 219513771 C T SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known missense c.860 p.R287H 0.008 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 31 0 0 42 17 28.8136 ZNF142 0 genome.wustl.edu 37 2 219513792 219513792 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 219513792 219513792 G A SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known missense c.839 p.A280V 0.342 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 30 0 0 39 12 23.5294 WNT6 0 genome.wustl.edu 37 2 219738388 219738388 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 219738388 219738388 G A SNP WNT6 ENST00000233948 human ensembl 74_37 +1 known missense c.919 p.G307S 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt6 - no_errors WNT6 HGNC ENSG00000115596 18 0 0 19 3 13.6364 CDK5R2 0 genome.wustl.edu 37 2 219825132 219825132 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 219825132 219825132 G A SNP CDK5R2 ENST00000302625 human ensembl 74_37 +1 known missense c.590 p.R197H 1.000 pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator - no_errors CDK5R2 HGNC ENSG00000171450 37 0 0 26 6 18.75 ATG9A 0 genome.wustl.edu 37 2 220085865 220085865 + Missense_Mutation SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 220085865 220085865 G C SNP ATG9A ENST00000361242 human ensembl 74_37 -1 known missense c.2305 p.P769A 1.000 NULL pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3 - no_errors ATG9A HGNC ENSG00000198925 28 0 0 12 3 20 SPEG 0 genome.wustl.edu 37 2 220334066 220334066 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 220334066 220334066 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.3680 p.R1227H 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 SPEG HGNC ENSG00000072195 46 0 0 32 12 27.2727 SPEG 0 genome.wustl.edu 37 2 220350083 220350083 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 220350083 220350083 G T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.7625 p.R2542L 0.988 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 SPEG HGNC ENSG00000072195 168 0 0 158 39 19.797 OBSL1 0 genome.wustl.edu 37 2 220424007 220424007 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 220424007 220424007 C T SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.3166 p.G1056R 0.044 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 161 0 0 136 34 20 SLC4A3 0 genome.wustl.edu 37 2 220498034 220498034 + Missense_Mutation SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 220498034 220498034 G C SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known missense c.1397 p.R466P 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 133 0 0 103 21 16.9355 SERPINE2 0 genome.wustl.edu 37 2 224856532 224856532 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 224856532 224856532 C T SNP SERPINE2 ENST00000258405 human ensembl 74_37 -1 known missense c.673 p.V225M 0.421 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE2 HGNC ENSG00000135919 50 0 0 40 10 20 NYAP2 0 genome.wustl.edu 37 2 226378158 226378158 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 226378158 226378158 C T SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.293 p.T98I 1.000 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 51 0 0 52 4 7.14286 SH3YL1 0 genome.wustl.edu 37 2 233216 233216 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 233216 233216 T C SNP SH3YL1 ENST00000356150 human ensembl 74_37 -1 known missense c.418 p.N140D 0.360 pfam_Ysc84_actin-binding pfam_Ysc84_actin-binding,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors SH3YL1 HGNC ENSG00000035115 22 0 0 26 8 23.5294 CHRND 0 genome.wustl.edu 37 2 233398937 233398937 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 233398937 233398937 G A SNP CHRND ENST00000258385 human ensembl 74_37 +1 known missense c.1256 p.R419Q 0.025 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRND HGNC ENSG00000135902 50 0 0 54 14 20.5882 ARL4C 0 genome.wustl.edu 37 2 235404738 235404738 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 235404738 235404738 C A SNP ARL4C ENST00000339728 human ensembl 74_37 -1 known missense c.493 p.G165C 1.000 pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL4C HGNC ENSG00000188042 50 0 0 34 18 34.6154 ARL4C 0 genome.wustl.edu 37 2 235404747 235404747 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 235404747 235404747 C T SNP ARL4C ENST00000339728 human ensembl 74_37 -1 known missense c.484 p.A162T 1.000 pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL4C HGNC ENSG00000188042 51 0 0 42 7 14.2857 COL6A3 0 genome.wustl.edu 37 2 238268729 238268729 + Splice_Site SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 238268729 238268729 A G SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known splice_site c.6282+2 e16+2 1.000 - - - no_errors COL6A3 HGNC ENSG00000163359 42 0 0 39 8 17.0213 ESPNL 0 genome.wustl.edu 37 2 239039156 239039156 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 239039156 239039156 C T SNP ESPNL ENST00000343063 human ensembl 74_37 +1 known missense c.1801 p.R601C 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ESPNL HGNC ENSG00000144488 9 0 0 13 7 35 CAPN10 0 genome.wustl.edu 37 2 241533993 241533993 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 241533993 241533993 A G SNP CAPN10 ENST00000391984 human ensembl 74_37 +1 known silent c.864 p.V288 0.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN10 HGNC ENSG00000142330 256 0 0 234 51 17.8947 ADCY3 0 genome.wustl.edu 37 2 25062881 25062881 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 25062881 25062881 T C SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known missense c.1216 p.K406E 0.144 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 111 0 0 95 27 22.1311 KIF3C 0 genome.wustl.edu 37 2 26204118 26204118 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 26204118 26204118 A G SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known silent c.669 p.T223 0.006 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 73 0 0 68 28 29.1667 TRIM54 0 genome.wustl.edu 37 2 27529183 27529183 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 27529183 27529183 G A SNP TRIM54 ENST00000296098 human ensembl 74_37 +1 known silent c.1095 p.L365 0.969 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM54 HGNC ENSG00000138100 73 0 0 76 7 8.43373 XDH 0 genome.wustl.edu 37 2 31596794 31596794 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 31596794 31596794 G A SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.1631 p.A544V 0.036 superfamily_Ald_Oxase/Xan_DH_a/b,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 30 0 0 20 6 23.0769 TTC27 0 genome.wustl.edu 37 2 32853435 32853435 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 32853435 32853435 G A SNP TTC27 ENST00000317907 human ensembl 74_37 +1 known missense c.76 p.V26I 0.000 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC27 HGNC ENSG00000018699 23 0 0 23 3 11.5385 HEATR5B 0 genome.wustl.edu 37 2 37297476 37297476 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 37297476 37297476 G A SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.824 p.A275V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 109 0 0 102 27 20.9302 MAP4K3 0 genome.wustl.edu 37 2 39535143 39535143 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 39535143 39535143 C T SNP MAP4K3 ENST00000263881 human ensembl 74_37 -1 known missense c.1060 p.D354N 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 MAP4K3 HGNC ENSG00000011566 65 0 0 86 26 23.2143 SLC8A1 0 genome.wustl.edu 37 2 40657012 40657012 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 40657012 40657012 G A SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known silent c.409 p.L137 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 66 0 0 79 12 13.1868 LRPPRC 0 genome.wustl.edu 37 2 44126409 44126409 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 44126409 44126409 G A SNP LRPPRC ENST00000260665 human ensembl 74_37 -1 known silent c.3774 p.F1258 1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 48 0 0 47 4 7.84314 SPTBN1 0 genome.wustl.edu 37 2 54849501 54849501 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 54849501 54849501 T C SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.941 p.L314P 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 SPTBN1 HGNC ENSG00000115306 105 0 0 118 12 9.23077 PEX13 0 genome.wustl.edu 37 2 61275793 61275793 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 61275793 61275793 C T SNP PEX13 ENST00000295030 human ensembl 74_37 +1 known missense c.1100 p.A367V 0.712 NULL pfam_Peroxin-13_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PEX13 HGNC ENSG00000162928 79 0 0 95 21 18.1034 AHSA2 0 genome.wustl.edu 37 2 61413633 61413633 + Splice_Site SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 61413633 61413633 G A SNP AHSA2 ENST00000357022 human ensembl 74_37 +1 known splice_site c.244+1 e3+1 1.000 - - - no_errors AHSA2 HGNC ENSG00000173209 53 0 0 48 8 14.2857 CEP68 0 genome.wustl.edu 37 2 65299492 65299492 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 65299492 65299492 C T SNP CEP68 ENST00000377990 human ensembl 74_37 +1 known missense c.1262 p.A421V 0.000 NULL NULL - no_errors CEP68 HGNC ENSG00000011523 85 0 0 78 10 11.3636 GFPT1 0 genome.wustl.edu 37 2 69590694 69590694 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 69590694 69590694 C T SNP GFPT1 ENST00000357308 human ensembl 74_37 -1 known missense c.332 p.R111H 1.000 pfam_GATase_dom pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC ENSG00000198380 28 0 0 37 11 22.9167 ASPRV1 0 genome.wustl.edu 37 2 70188557 70188557 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 70188557 70188557 G A SNP ASPRV1 ENST00000320256 human ensembl 74_37 -1 known silent c.264 p.S88 0.000 NULL pfam_Peptidase_aspartic_DDI1-type,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,pfscan_Peptidase_A2_cat - no_errors ASPRV1 HGNC ENSG00000244617 67 0 0 73 6 7.59494 REG1B 0 genome.wustl.edu 37 2 79314001 79314001 + Silent SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 79314001 79314001 G T SNP REG1B ENST00000305089 human ensembl 74_37 -1 known silent c.120 p.T40 0.000 superfamily_C-type_lectin_fold,smart_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG1B HGNC ENSG00000172023 156 0 0 166 38 18.6275 CTNNA2 0 genome.wustl.edu 37 2 80808939 80808939 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 80808939 80808939 G A SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.2104 p.A702T 1.000 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 44 0 0 28 15 34.8837 ATOH8 0 genome.wustl.edu 37 2 85981555 85981555 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 85981555 85981555 G A SNP ATOH8 ENST00000306279 human ensembl 74_37 +1 known silent c.243 p.A81 0.998 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ATOH8 HGNC ENSG00000168874 40 0 0 33 11 25 POLR1A 0 genome.wustl.edu 37 2 86308084 86308084 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 86308084 86308084 C T SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known missense c.941 p.R314H 1.000 pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 87 0 0 87 18 17.1429 ASTL 0 genome.wustl.edu 37 2 96795654 96795654 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 96795654 96795654 G A SNP ASTL ENST00000342380 human ensembl 74_37 -1 known silent c.783 p.I261 0.959 pfam_Peptidase_M12A pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ENSG00000188886 89 0 0 54 21 28 CIAO1 0 genome.wustl.edu 37 2 96935059 96935059 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 96935059 96935059 G A SNP CIAO1 ENST00000488633 human ensembl 74_37 +1 known missense c.745 p.G249S 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIAO1 HGNC ENSG00000144021 134 1 0.740741 110 28 20.2899 SIRPG 0 genome.wustl.edu 37 20 1616924 1616924 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 1616924 1616924 C T SNP SIRPG ENST00000303415 human ensembl 74_37 -1 known missense c.658 p.V220I 0.003 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPG HGNC ENSG00000089012 80 0 0 92 13 12.381 RRBP1 0 genome.wustl.edu 37 20 17614257 17614257 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 17614257 17614257 G A SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known nonsense c.2458 p.Q820* 1.000 superfamily_Ribosome_recyc_fac_dom pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 68 0 0 49 25 33.7838 ZNF133 0 genome.wustl.edu 37 20 18286334 18286334 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 18286334 18286334 G A SNP ZNF133 ENST00000396026 human ensembl 74_37 +1 known missense c.13 p.A5T 1.000 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 ZNF133 HGNC ENSG00000125846 56 0 0 68 20 22.7273 SEC23B 0 genome.wustl.edu 37 20 18523668 18523668 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 18523668 18523668 C T SNP SEC23B ENST00000262544 human ensembl 74_37 +1 known missense c.1517 p.A506V 1.000 pfam_Sec23_24_beta_S pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC ENSG00000101310 167 0 0 154 97 38.6454 XRN2 0 genome.wustl.edu 37 20 21324732 21324732 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 21324732 21324732 C T SNP XRN2 ENST00000377191 human ensembl 74_37 +1 known missense c.1415 p.P472L 1.000 pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 68 0 0 92 46 33.3333 THBD 0 genome.wustl.edu 37 20 23028958 23028958 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 23028958 23028958 G A SNP THBD ENST00000377103 human ensembl 74_37 -1 known missense c.1184 p.A395V 0.000 pirsf_CD93/CD141,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Thrombomodulin pirsf_CD93/CD141,pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin,pfscan_C-type_lectin - no_errors THBD HGNC ENSG00000178726 96 0 0 124 23 15.6463 GGTLC1 0 genome.wustl.edu 37 20 23966552 23966552 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 23966552 23966552 G A SNP GGTLC1 ENST00000278765 human ensembl 74_37 -1 known missense c.364 p.R122W 1.000 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC1 HGNC ENSG00000149435 172 0 0 153 69 31.0811 ZNF337 0 genome.wustl.edu 37 20 25657650 25657650 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 25657650 25657650 G A SNP ZNF337 ENST00000252979 human ensembl 74_37 -1 known missense c.274 p.R92W 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF337 HGNC ENSG00000130684 14 0 0 35 9 20.4545 REM1 0 genome.wustl.edu 37 20 30072050 30072050 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 30072050 30072050 C T SNP REM1 ENST00000201979 human ensembl 74_37 +1 known silent c.714 p.G238 1.000 pirsf_Small_GTPase_GEM/REM/Rad,pfam_Small_GTPase,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pirsf_Small_GTPase_GEM/REM/Rad,pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors REM1 HGNC ENSG00000088320 16 0 0 17 3 15 MYLK2 0 genome.wustl.edu 37 20 30411376 30411376 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 30411376 30411376 C T SNP MYLK2 ENST00000375985 human ensembl 74_37 +1 known missense c.869 p.A290V 0.902 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MYLK2 HGNC ENSG00000101306 114 1 0.869565 109 7 6.03448 BPIFA2 0 genome.wustl.edu 37 20 31760789 31760789 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 31760789 31760789 C T SNP BPIFA2 ENST00000253362 human ensembl 74_37 +1 known missense c.209 p.A70V 0.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA2 HGNC ENSG00000131050 57 0 0 75 6 7.40741 CDK5RAP1 0 genome.wustl.edu 37 20 31958354 31958354 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 31958354 31958354 C T SNP CDK5RAP1 ENST00000357886 human ensembl 74_37 -1 known missense c.1385 p.R462Q 0.996 smart_Elp3/MiaB/NifB,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase - no_errors CDK5RAP1 HGNC ENSG00000101391 188 1 0.529101 157 33 17.3684 CTNNBL1 0 genome.wustl.edu 37 20 36488707 36488707 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 36488707 36488707 C T SNP CTNNBL1 ENST00000405275 human ensembl 74_37 +1 known nonsense c.1483 p.R495* 1.000 NULL pfam_CTNNBL1_N,superfamily_ARM-type_fold - no_errors CTNNBL1 HGNC ENSG00000132792 108 0 0 129 12 8.51064 BPI 0 genome.wustl.edu 37 20 36954769 36954769 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 36954769 36954769 G A SNP BPI ENST00000262865 human ensembl 74_37 +1 known missense c.1108 p.V370M 0.002 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPI HGNC ENSG00000101425 25 0 0 28 6 17.6471 PTPRT 0 genome.wustl.edu 37 20 40790157 40790157 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 40790157 40790157 G A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known silent c.2574 p.S858 0.992 NULL 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,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 82 0 0 101 12 10.6195 SGK2 0 genome.wustl.edu 37 20 42198046 42198046 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 42198046 42198046 C T SNP SGK2 ENST00000341458 human ensembl 74_37 +1 known missense c.430 p.R144C 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors SGK2 HGNC ENSG00000101049 67 0 0 41 11 21.1538 FITM2 0 genome.wustl.edu 37 20 42935801 42935801 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 42935801 42935801 C T SNP FITM2 ENST00000396825 human ensembl 74_37 -1 known missense c.253 p.G85S 0.908 pfam_FIT pfam_FIT - no_errors FITM2 HGNC ENSG00000197296 67 0 0 59 12 16.9014 SULF2 0 genome.wustl.edu 37 20 46307495 46307495 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 46307495 46307495 G A SNP SULF2 ENST00000359930 human ensembl 74_37 -1 known missense c.1118 p.A373V 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC ENSG00000196562 140 0 0 145 42 22.4599 ARFGEF2 0 genome.wustl.edu 37 20 47611046 47611046 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 47611046 47611046 C T SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.3032 p.T1011M 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 45 0 0 44 11 20 SPATA2 0 genome.wustl.edu 37 20 48522570 48522570 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 48522570 48522570 G A SNP SPATA2 ENST00000289431 human ensembl 74_37 -1 known silent c.1149 p.C383 1.000 NULL NULL - no_errors SPATA2 HGNC ENSG00000158480 81 0 0 63 20 24.0964 SPATA2 0 genome.wustl.edu 37 20 48522746 48522746 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 48522746 48522746 G A SNP SPATA2 ENST00000289431 human ensembl 74_37 -1 known missense c.973 p.R325C 0.050 NULL NULL - no_errors SPATA2 HGNC ENSG00000158480 98 0 0 114 25 17.9856 SPATA2 0 genome.wustl.edu 37 20 48522830 48522830 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 48522830 48522830 A G SNP SPATA2 ENST00000289431 human ensembl 74_37 -1 known missense c.889 p.S297P 1.000 NULL NULL - no_errors SPATA2 HGNC ENSG00000158480 101 1 0.980392 99 24 19.5122 NFATC2 0 genome.wustl.edu 37 20 50049108 50049108 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 50049108 50049108 C T SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.2218 p.A740T 0.881 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 30 0 0 44 11 20 SALL4 0 genome.wustl.edu 37 20 50400936 50400936 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 50400936 50400936 G A SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known silent c.3030 p.N1010 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 78 0 0 69 25 26.5957 PROKR2 0 genome.wustl.edu 37 20 5294844 5294844 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 5294844 5294844 T C SNP PROKR2 ENST00000217270 human ensembl 74_37 -1 known missense c.172 p.I58V 0.788 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 90 0 0 114 59 34.104 RAB22A 0 genome.wustl.edu 37 20 56929278 56929278 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 56929278 56929278 C T SNP RAB22A ENST00000244040 human ensembl 74_37 +1 known silent c.444 p.S148 1.000 pfam_Small_GTPase,pfam_EF_GTP-bd_dom,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,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,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 RAB22A HGNC ENSG00000124209 39 0 0 39 7 15.2174 APCDD1L 0 genome.wustl.edu 37 20 57042282 57042282 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 57042282 57042282 C T SNP APCDD1L ENST00000439429 human ensembl 74_37 -1 known silent c.654 p.P218 0.455 NULL NULL - no_errors APCDD1L HGNC ENSG00000198768 22 0 0 21 7 25 RBBP8NL 0 genome.wustl.edu 37 20 60991218 60991218 + Splice_Site SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 60991218 60991218 A G SNP RBBP8NL ENST00000252998 human ensembl 74_37 -1 known splice_site c.386+2 e5+2 1.000 - - - no_errors RBBP8NL HGNC ENSG00000130701 21 0 0 14 6 30 DIDO1 0 genome.wustl.edu 37 20 61542400 61542400 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 61542400 61542400 G A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.565 p.R189W 0.005 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 68 0 0 63 13 17.1053 ARFGAP1 0 genome.wustl.edu 37 20 61907912 61907912 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 61907912 61907912 G A SNP ARFGAP1 ENST00000353546 human ensembl 74_37 +1 known missense c.251 p.R84Q 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP1 HGNC ENSG00000101199 84 0 0 61 8 11.5942 RTEL1 0 genome.wustl.edu 37 20 62294213 62294213 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 62294213 62294213 G A SNP RTEL1 ENST00000318100 human ensembl 74_37 +1 known missense c.509 p.R170H 1.000 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 120 0 0 103 29 21.9697 ZBTB46 0 genome.wustl.edu 37 20 62407156 62407156 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 62407156 62407156 G A SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known missense c.1097 p.A366V 0.996 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 117 0 0 102 12 10.5263 ZBTB46 0 genome.wustl.edu 37 20 62421706 62421706 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 62421706 62421706 C T SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known silent c.405 p.S135 0.003 pfam_DUF3342 pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 34 0 0 33 12 26.6667 PRPF6 0 genome.wustl.edu 37 20 62664241 62664241 + Silent SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 62664241 62664241 G T SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known silent c.2721 p.R907 0.986 NULL pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 46 0 0 38 10 20.8333 BMP2 0 genome.wustl.edu 37 20 6750905 6750905 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 6750905 6750905 G T SNP BMP2 ENST00000378827 human ensembl 74_37 +1 known missense c.132 p.Q44H 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP2 HGNC ENSG00000125845 21 0 0 22 6 21.4286 PLCB4 0 genome.wustl.edu 37 20 9417772 9417772 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 9417772 9417772 C T SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known silent c.2701 p.L901 0.097 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 23 0 0 31 13 29.5455 NCAM2 0 genome.wustl.edu 37 21 22707929 22707929 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 22707929 22707929 G A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.842 p.C281Y 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Neural_cell_adh pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 54 0 0 37 12 24.4898 ATP5J 0 genome.wustl.edu 37 21 27097572 27097572 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 27097572 27097572 G A SNP ATP5J ENST00000457143 human ensembl 74_37 -1 known missense c.278 p.A93V 1.000 pfam_ATPase_F0-cplx_f6su_mt,superfamily_ATPase_F0-cplx_f6su_mt pfam_ATPase_F0-cplx_f6su_mt,superfamily_ATPase_F0-cplx_f6su_mt - no_errors ATP5J HGNC ENSG00000154723 37 0 0 50 9 15.2542 TIAM1 0 genome.wustl.edu 37 21 32525063 32525063 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 32525063 32525063 C A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.3257 p.G1086V 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 37 0 0 55 7 11.2903 CLIC6 0 genome.wustl.edu 37 21 36081085 36081085 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 36081085 36081085 G A SNP CLIC6 ENST00000360731 human ensembl 74_37 +1 known silent c.1752 p.T584 0.879 superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC6 HGNC ENSG00000159212 34 0 0 33 15 31.25 MORC3 0 genome.wustl.edu 37 21 37709257 37709257 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 37709257 37709257 C T SNP MORC3 ENST00000400485 human ensembl 74_37 +1 known silent c.198 p.T66 0.485 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 76 0 0 70 23 24.7312 CHAF1B 0 genome.wustl.edu 37 21 37781728 37781728 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 37781728 37781728 C T SNP CHAF1B ENST00000314103 human ensembl 74_37 +1 known missense c.884 p.P295L 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B - no_errors CHAF1B HGNC ENSG00000159259 321 0 0 248 57 18.6885 DSCAM 0 genome.wustl.edu 37 21 41741061 41741061 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 41741061 41741061 G A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.620 p.T207M 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 57 0 0 69 12 14.8148 RIPK4 0 genome.wustl.edu 37 21 43161737 43161737 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 43161737 43161737 G A SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known missense c.1760 p.T587M 0.993 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 52 0 0 55 9 14.0625 RIPK4 0 genome.wustl.edu 37 21 43187099 43187099 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 43187099 43187099 G A SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known nonsense c.103 p.Q35* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 43 0 0 38 6 13.6364 UMODL1 0 genome.wustl.edu 37 21 43510525 43510525 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 43510525 43510525 G A SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.908 p.R303Q 0.000 smart_EGF-like_Ca-bd_dom pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 83 0 0 78 7 8.23529 SLC37A1 0 genome.wustl.edu 37 21 43963564 43963564 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 43963564 43963564 G A SNP SLC37A1 ENST00000352133 human ensembl 74_37 +1 known silent c.582 p.G194 0.021 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A1 HGNC ENSG00000160190 272 0 0 216 45 17.2414 PWP2 0 genome.wustl.edu 37 21 45544600 45544600 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 45544600 45544600 G A SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known missense c.1957 p.A653T 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 59 0 0 64 5 7.24638 UBE2G2 0 genome.wustl.edu 37 21 46191376 46191376 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 46191376 46191376 C T SNP UBE2G2 ENST00000345496 human ensembl 74_37 -1 known silent c.414 p.V138 0.998 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2G2 HGNC ENSG00000184787 155 0 0 142 42 22.8261 MCM3AP 0 genome.wustl.edu 37 21 47703567 47703567 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 47703567 47703567 G A SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.1405 p.R469C 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 47 0 0 55 13 19.1176 DIP2A 0 genome.wustl.edu 37 21 47981687 47981687 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 47981687 47981687 C T SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known missense c.4061 p.P1354L 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 176 0 0 190 11 5.47264 IL17RA 0 genome.wustl.edu 37 22 17583054 17583054 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 17583054 17583054 C T SNP IL17RA ENST00000319363 human ensembl 74_37 +1 known silent c.624 p.T208 0.000 NULL pfam_SEFIR - no_errors IL17RA HGNC ENSG00000177663 110 0 0 86 21 19.6262 TSSK2 0 genome.wustl.edu 37 22 19119015 19119015 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 19119015 19119015 A G SNP TSSK2 ENST00000399635 human ensembl 74_37 +1 known missense c.103 p.K35E 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK2 HGNC ENSG00000206203 66 0 0 56 13 18.8406 RIMBP3 0 genome.wustl.edu 37 22 20458634 20458634 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 20458634 20458634 G A SNP RIMBP3 ENST00000426804 human ensembl 74_37 -1 known missense c.2668 p.P890S 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain - no_errors RIMBP3 HGNC ENSG00000196622 46 0 0 51 4 7.27273 PI4KA 0 genome.wustl.edu 37 22 21119159 21119159 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 21119159 21119159 A C SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.2654 p.L885R 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 59 0 0 63 19 23.1707 CCDC116 0 genome.wustl.edu 37 22 21989105 21989105 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 21989105 21989105 C T SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known silent c.753 p.G251 0.000 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 197 0 0 193 51 20.9016 YPEL1 0 genome.wustl.edu 37 22 22057674 22057674 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 22057674 22057674 C T SNP YPEL1 ENST00000339468 human ensembl 74_37 -1 known silent c.255 p.T85 0.698 pfam_Yippee/Mis18 pfam_Yippee/Mis18 - no_errors YPEL1 HGNC ENSG00000100027 95 0 0 87 17 16.3462 TOP3B 0 genome.wustl.edu 37 22 22317214 22317214 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 22317214 22317214 G A SNP TOP3B ENST00000357179 human ensembl 74_37 -1 known missense c.1256 p.T419M 1.000 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd,prints_Topo_IA pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 67 0 0 54 27 33.3333 VPREB1 0 genome.wustl.edu 37 22 22599401 22599401 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 22599401 22599401 C A SNP VPREB1 ENST00000403807 human ensembl 74_37 +1 known silent c.90 p.S30 0.004 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VPREB1 HGNC ENSG00000169575 63 0 0 80 21 20.7921 HPS4 0 genome.wustl.edu 37 22 26861447 26861447 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 26861447 26861447 G A SNP HPS4 ENST00000398141 human ensembl 74_37 -1 known silent c.816 p.H272 0.003 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 63 0 0 77 21 21.4286 KREMEN1 0 genome.wustl.edu 37 22 29494865 29494865 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 29494865 29494865 C T SNP KREMEN1 ENST00000327813 human ensembl 74_37 +1 known silent c.276 p.D92 0.979 pirsf_Kremen,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN1 HGNC ENSG00000183762 54 0 0 71 21 22.8261 NF2 0 genome.wustl.edu 37 22 30057232 30057232 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 30057232 30057232 C A SNP NF2 ENST00000338641 human ensembl 74_37 +1 known silent c.714 p.A238 0.987 pirsf_ERM,pfam_FERM_PH-like_C,pfscan_FERM_domain,prints_Ez/rad/moesin_like pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,prints_Tropomyosin - no_errors NF2 HGNC ENSG00000186575 163 0 0 157 66 29.5964 GAL3ST1 0 genome.wustl.edu 37 22 30951368 30951368 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 30951368 30951368 G A SNP GAL3ST1 ENST00000338911 human ensembl 74_37 -1 known missense c.844 p.R282C 1.000 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST1 HGNC ENSG00000128242 89 0 0 87 19 17.9245 INPP5J 0 genome.wustl.edu 37 22 31522653 31522653 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 31522653 31522653 G A SNP INPP5J ENST00000331075 human ensembl 74_37 +1 known silent c.1440 p.T480 0.062 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5J HGNC ENSG00000185133 280 0 0 233 53 18.5315 PATZ1 0 genome.wustl.edu 37 22 31731681 31731681 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 31731681 31731681 G A SNP PATZ1 ENST00000266269 human ensembl 74_37 -1 known nonsense c.1504 p.R502* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC ENSG00000100105 99 0 0 94 22 18.9655 NCF4 0 genome.wustl.edu 37 22 37273731 37273731 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 37273731 37273731 C T SNP NCF4 ENST00000248899 human ensembl 74_37 +1 known missense c.886 p.R296W 0.851 pfam_OPR_PB1,smart_OPR_PB1 pfam_Phox,pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,smart_OPR_PB1,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox - no_errors NCF4 HGNC ENSG00000100365 61 0 0 72 13 15.2941 TRIOBP 0 genome.wustl.edu 37 22 38121820 38121820 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 38121820 38121820 C A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.3257 p.P1086H 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 174 0 0 153 53 25.7282 GALR3 0 genome.wustl.edu 37 22 38221152 38221152 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 38221152 38221152 G A SNP GALR3 ENST00000249041 human ensembl 74_37 +1 known missense c.782 p.G261D 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Galanin_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Galanin_rcpt,prints_GPCR_Rhodpsn,prints_Galnin_3_rcpt - no_errors GALR3 HGNC ENSG00000128310 28 0 0 17 7 29.1667 KCNJ4 0 genome.wustl.edu 37 22 38823864 38823864 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 38823864 38823864 C A SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known missense c.274 p.G92W 0.001 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 42 0 0 26 8 23.5294 ZC3H7B 0 genome.wustl.edu 37 22 41721568 41721568 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 41721568 41721568 G A SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known silent c.54 p.Q18 1.000 NULL pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 16 0 0 18 4 18.1818 ZC3H7B 0 genome.wustl.edu 37 22 41735182 41735182 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 41735182 41735182 T C SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known missense c.803 p.L268P 1.000 NULL pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 98 0 0 83 17 17 CYP2D6 0 genome.wustl.edu 37 22 42524801 42524801 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 42524801 42524801 C T SNP CYP2D6 ENST00000360608 human ensembl 74_37 -1 known silent c.651 p.S217 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2D6 HGNC ENSG00000100197 33 0 0 43 3 6.52174 TCF20 0 genome.wustl.edu 37 22 42605684 42605684 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 42605684 42605684 C A SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known missense c.5628 p.Q1876H 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 179 1 0.555556 190 57 23.0769 SCUBE1 0 genome.wustl.edu 37 22 43687107 43687107 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 43687107 43687107 G A SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known silent c.429 p.C143 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 32 0 0 28 3 9.67742 KIAA0930 0 genome.wustl.edu 37 22 45599010 45599010 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 45599010 45599010 C T SNP KIAA0930 ENST00000251993 human ensembl 74_37 -1 known missense c.728 p.S243N 1.000 pfam_DUF2045 pfam_DUF2045 - no_errors KIAA0930 HGNC ENSG00000100364 278 0 0 262 58 18.125 CELSR1 0 genome.wustl.edu 37 22 46773156 46773156 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 46773156 46773156 G A SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known silent c.7386 p.N2462 0.995 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 28 0 0 27 11 28.9474 ZBED4 0 genome.wustl.edu 37 22 50280310 50280310 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 50280310 50280310 G A SNP ZBED4 ENST00000216268 human ensembl 74_37 +1 known silent c.3000 p.P1000 0.899 superfamily_RNaseH-like_dom pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 20 0 0 23 7 23.3333 MOV10L1 0 genome.wustl.edu 37 22 50537979 50537979 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 50537979 50537979 C T SNP MOV10L1 ENST00000262794 human ensembl 74_37 +1 known silent c.390 p.G130 0.002 NULL superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 49 0 0 43 19 30.6452 TRABD 0 genome.wustl.edu 37 22 50635950 50635950 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 50635950 50635950 G A SNP TRABD ENST00000303434 human ensembl 74_37 +1 known missense c.604 p.A202T 0.997 pfam_Pheromone_shutdown_TraB pfam_Pheromone_shutdown_TraB - no_errors TRABD HGNC ENSG00000170638 110 0 0 93 37 28.4615 TUBGCP6 0 genome.wustl.edu 37 22 50656199 50656199 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 50656199 50656199 C T SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.5426 p.R1809H 1.000 NULL pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 49 0 0 35 4 10.2564 TUBGCP6 0 genome.wustl.edu 37 22 50657735 50657735 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 50657735 50657735 G A SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.4466 p.T1489M 0.990 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 29 0 0 23 7 23.3333 MIOX 0 genome.wustl.edu 37 22 50927726 50927726 + Splice_Site SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 50927726 50927726 T C SNP MIOX ENST00000216075 human ensembl 74_37 +1 known splice_site c.586+2 e7+2 1.000 - - - no_errors MIOX HGNC ENSG00000100253 13 0 0 15 5 25 TBC1D23 0 genome.wustl.edu 37 3 100020915 100020915 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 100020915 100020915 T C SNP TBC1D23 ENST00000394144 human ensembl 74_37 +1 known missense c.1097 p.L366P 0.997 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 21 0 0 39 9 18.75 ABI3BP 0 genome.wustl.edu 37 3 100469455 100469455 + Splice_Site SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 100469455 100469455 C T SNP ABI3BP ENST00000284322 human ensembl 74_37 -1 known splice_site c.3113-1 e35-1 1.000 - - - no_errors ABI3BP HGNC ENSG00000154175 55 0 0 71 18 20.2247 CEP97 0 genome.wustl.edu 37 3 101483744 101483744 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 101483744 101483744 G A SNP CEP97 ENST00000327230 human ensembl 74_37 +1 known nonsense c.2025 p.W675* 0.914 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC ENSG00000182504 112 0 0 126 14 10 IRAK2 0 genome.wustl.edu 37 3 10242124 10242124 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 10242124 10242124 G A SNP IRAK2 ENST00000256458 human ensembl 74_37 +1 known missense c.349 p.A117T 0.056 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK2 HGNC ENSG00000134070 122 0 0 111 45 28.8462 B4GALT4 0 genome.wustl.edu 37 3 118937618 118937618 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 118937618 118937618 A G SNP B4GALT4 ENST00000359213 human ensembl 74_37 -1 known silent c.676 p.L226 1.000 pfam_Galactosyl_T_C,prints_Galactosyl_T pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT4 HGNC ENSG00000121578 79 0 0 77 20 20.6186 GSK3B 0 genome.wustl.edu 37 3 119634948 119634948 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 119634948 119634948 G A SNP GSK3B ENST00000316626 human ensembl 74_37 -1 known missense c.551 p.P184L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors GSK3B HGNC ENSG00000082701 39 0 0 46 11 19.2982 STXBP5L 0 genome.wustl.edu 37 3 121001163 121001163 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 121001163 121001163 C T SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.2161 p.R721W 1.000 NULL pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 34 0 0 28 5 15.1515 SEMA5B 0 genome.wustl.edu 37 3 122646697 122646697 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 122646697 122646697 G A SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.952 p.R318C 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 85 0 0 92 24 20.6897 KLF15 0 genome.wustl.edu 37 3 126062592 126062592 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 126062592 126062592 C T SNP KLF15 ENST00000296233 human ensembl 74_37 -1 known missense c.1229 p.R410H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 86 0 0 74 17 18.6813 PLXND1 0 genome.wustl.edu 37 3 129324762 129324762 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 129324762 129324762 G A SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.721 p.R241C 1.000 superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 62 0 0 50 7 12.2807 CEP63 0 genome.wustl.edu 37 3 134280320 134280320 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 134280320 134280320 T G SNP CEP63 ENST00000337090 human ensembl 74_37 +1 known missense c.2055 p.I685M 0.982 NULL NULL - no_errors CEP63 HGNC ENSG00000182923 38 0 0 45 15 25 EPHB1 0 genome.wustl.edu 37 3 134884865 134884865 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 134884865 134884865 G A SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known silent c.1641 p.A547 0.004 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 130 0 0 159 36 18.4615 PRR23B 0 genome.wustl.edu 37 3 138738760 138738760 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 138738760 138738760 C T SNP PRR23B ENST00000329447 human ensembl 74_37 -1 known silent c.744 p.S248 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC ENSG00000184814 54 0 0 71 20 21.978 PAQR9 0 genome.wustl.edu 37 3 142681986 142681986 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 142681986 142681986 G A SNP PAQR9 ENST00000340634 human ensembl 74_37 -1 known missense c.193 p.R65C 1.000 NULL pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 18 0 0 18 4 18.1818 PAQR9 0 genome.wustl.edu 37 3 142682042 142682042 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 142682042 142682042 C T SNP PAQR9 ENST00000340634 human ensembl 74_37 -1 known missense c.137 p.R46H 1.000 NULL pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 11 0 0 10 5 33.3333 GRIP2 0 genome.wustl.edu 37 3 14535243 14535243 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 14535243 14535243 C T SNP GRIP2 ENST00000273083 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GRIP2 HGNC ENSG00000144596 23 0 0 26 6 18.75 HPS3 0 genome.wustl.edu 37 3 148847595 148847595 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 148847595 148847595 G T SNP HPS3 ENST00000296051 human ensembl 74_37 +1 known missense c.85 p.G29W 0.999 pirsf_HPS3 pirsf_HPS3 - no_errors HPS3 HGNC ENSG00000163755 27 0 0 27 10 27.027 TSC22D2 0 genome.wustl.edu 37 3 150127428 150127428 + Silent SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 150127428 150127428 G T SNP TSC22D2 ENST00000361875 human ensembl 74_37 +1 known silent c.291 p.A97 0.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D2 HGNC ENSG00000196428 36 0 0 19 5 20.8333 NR2C2 0 genome.wustl.edu 37 3 15065690 15065690 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 15065690 15065690 C T SNP NR2C2 ENST00000323373 human ensembl 74_37 +1 known missense c.830 p.T277I 0.998 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 67 0 0 82 17 17.1717 IGSF10 0 genome.wustl.edu 37 3 151165659 151165659 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 151165659 151165659 T C SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.2110 p.M704V 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 39 0 0 46 12 20.6897 DHX36 0 genome.wustl.edu 37 3 154042020 154042020 + Silent SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 154042020 154042020 G T SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known silent c.186 p.I62 0.983 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 198 0 0 188 42 18.2609 SMC4 0 genome.wustl.edu 37 3 160132293 160132293 + Missense_Mutation SNP A A T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 160132293 160132293 A T SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known missense c.1260 p.K420N 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 14 0 0 19 9 32.1429 B3GALNT1 0 genome.wustl.edu 37 3 160803766 160803766 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 160803766 160803766 G A SNP B3GALNT1 ENST00000320474 human ensembl 74_37 -1 known silent c.777 p.H259 0.793 pfam_Glyco_trans_31,pfam_Fringe-like pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GALNT1 HGNC ENSG00000169255 47 0 0 59 17 22.3684 SLITRK3 0 genome.wustl.edu 37 3 164906924 164906924 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 164906924 164906924 G A SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known silent c.1695 p.D565 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 71 0 0 77 19 19.7917 TTC14 0 genome.wustl.edu 37 3 180321044 180321044 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 180321044 180321044 G T SNP TTC14 ENST00000296015 human ensembl 74_37 +1 known missense c.419 p.G140V 1.000 superfamily_NA-bd_OB-fold,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 100 0 0 106 16 13.1148 FXR1 0 genome.wustl.edu 37 3 180685947 180685947 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 180685947 180685947 G A SNP FXR1 ENST00000357559 human ensembl 74_37 +1 known missense c.1307 p.R436H 1.000 pfam_Frag_X_MRP_fam pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC ENSG00000114416 69 0 0 76 17 18.2796 AP2M1 0 genome.wustl.edu 37 3 183900575 183900575 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 183900575 183900575 G A SNP AP2M1 ENST00000292807 human ensembl 74_37 +1 known silent c.1092 p.S364 0.039 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP2M1 HGNC ENSG00000161203 26 0 0 34 7 17.0732 KCNH8 0 genome.wustl.edu 37 3 19492809 19492809 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 19492809 19492809 C T SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.1738 p.R580C 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 66 0 0 74 24 24.4898 RNF168 0 genome.wustl.edu 37 3 196215512 196215512 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 196215512 196215512 T C SNP RNF168 ENST00000318037 human ensembl 74_37 -1 known missense c.344 p.E115G 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC ENSG00000163961 36 0 0 43 17 28.3333 DLG1 0 genome.wustl.edu 37 3 197023218 197023218 + Silent SNP T T A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 197023218 197023218 T A SNP DLG1 ENST00000346964 human ensembl 74_37 -1 known silent c.150 p.I50 1.000 pfam_L27_1,smart_L27,pirsf_M-assoc_guanylate_kinase,pfscan_L27 pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG1 HGNC ENSG00000075711 102 0 0 111 29 20.7143 FYTTD1 0 genome.wustl.edu 37 3 197500306 197500306 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 197500306 197500306 G A SNP FYTTD1 ENST00000241502 human ensembl 74_37 +1 known missense c.530 p.G177E 1.000 pfam_DUF1346 pfam_DUF1346 - no_errors FYTTD1 HGNC ENSG00000122068 10 0 0 10 3 23.0769 LINC00691 0 genome.wustl.edu 37 3 24138719 24138719 + RNA SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 24138719 24138719 G A SNP LINC00691 ENST00000436123 human ensembl 74_37 -1 known rna NULL NULL 0.074 - - - no_errors LINC00691 HGNC ENSG00000224074 20 0 0 18 7 28 RARB 0 genome.wustl.edu 37 3 25622140 25622140 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 25622140 25622140 G A SNP RARB ENST00000404969 human ensembl 74_37 +1 known missense c.734 p.R245H 0.999 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 95 0 0 81 27 25 CNTN4 0 genome.wustl.edu 37 3 3067876 3067876 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 3067876 3067876 C T SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.1577 p.S526L 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 44 0 0 48 8 14.2857 IL5RA 0 genome.wustl.edu 37 3 3134028 3134028 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 3134028 3134028 T C SNP IL5RA ENST00000256452 human ensembl 74_37 -1 known missense c.874 p.N292D 0.004 superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL5RA HGNC ENSG00000091181 90 0 0 67 18 21.1765 OSBPL10 0 genome.wustl.edu 37 3 31871604 31871604 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 31871604 31871604 C T SNP OSBPL10 ENST00000396556 human ensembl 74_37 -1 known silent c.657 p.T219 0.998 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL10 HGNC ENSG00000144645 63 0 0 61 20 24.6914 SUSD5 0 genome.wustl.edu 37 3 33194586 33194586 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 33194586 33194586 G A SNP SUSD5 ENST00000309558 human ensembl 74_37 -1 known missense c.1538 p.T513M 0.003 NULL pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP - no_errors SUSD5 HGNC ENSG00000173705 32 0 0 32 8 20 WDR48 0 genome.wustl.edu 37 3 39108283 39108283 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 39108283 39108283 C T SNP WDR48 ENST00000302313 human ensembl 74_37 +1 known missense c.398 p.A133V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR48 HGNC ENSG00000114742 77 0 0 80 24 23.0769 ANO10 0 genome.wustl.edu 37 3 43618452 43618452 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 43618452 43618452 A G SNP ANO10 ENST00000292246 human ensembl 74_37 -1 known silent c.894 p.T298 0.001 pfam_Anoctamin pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 87 0 0 89 24 21.2389 CDCP1 0 genome.wustl.edu 37 3 45135141 45135141 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 45135141 45135141 C T SNP CDCP1 ENST00000296129 human ensembl 74_37 -1 known missense c.1255 p.D419N 0.129 NULL superfamily_CUB_dom - no_errors CDCP1 HGNC ENSG00000163814 156 1 0.636943 160 62 27.9279 CCR1 0 genome.wustl.edu 37 3 46245624 46245624 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 46245624 46245624 G A SNP CCR1 ENST00000296140 human ensembl 74_37 -1 known nonsense c.181 p.Q61* 0.010 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_Chemokine_rcpt,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_NPY_rcpt,prints_ATII_rcpt - no_errors CCR1 HGNC ENSG00000163823 47 0 0 55 15 21.4286 PLXNB1 0 genome.wustl.edu 37 3 48451443 48451443 + Silent SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 48451443 48451443 G T SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known silent c.5649 p.P1883 0.999 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 57 0 0 69 8 10.3896 LAMB2 0 genome.wustl.edu 37 3 49159634 49159634 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 49159634 49159634 A G SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known silent c.4743 p.R1581 0.999 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 85 0 0 81 28 25.6881 LAMB2 0 genome.wustl.edu 37 3 49166718 49166718 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 49166718 49166718 G A SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.1558 p.R520C 1.000 pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 90 0 0 81 21 20.5882 USP4 0 genome.wustl.edu 37 3 49377392 49377392 + Silent SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 49377392 49377392 G T SNP USP4 ENST00000265560 human ensembl 74_37 -1 known silent c.66 p.P22 0.999 NULL pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP4 HGNC ENSG00000114316 111 0 0 145 9 5.84416 RNF123 0 genome.wustl.edu 37 3 49736529 49736529 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 49736529 49736529 G A SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known missense c.755 p.R252H 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 116 0 0 93 36 27.907 CACNA2D2 0 genome.wustl.edu 37 3 50402903 50402903 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 50402903 50402903 C T SNP CACNA2D2 ENST00000435965 human ensembl 74_37 -1 known silent c.3003 p.E1001 0.249 NULL pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC ENSG00000007402 47 0 0 58 18 23.6842 DOCK3 0 genome.wustl.edu 37 3 51184022 51184022 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 51184022 51184022 G T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.789 p.R263S 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 10 0 0 7 3 30 DOCK3 0 genome.wustl.edu 37 3 51308301 51308301 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 51308301 51308301 C T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.2411 p.T804I 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 56 0 0 75 13 14.7727 PDHB 0 genome.wustl.edu 37 3 58413867 58413867 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 58413867 58413867 A G SNP PDHB ENST00000302746 human ensembl 74_37 -1 known missense c.974 p.V325A 1.000 pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors PDHB HGNC ENSG00000168291 33 0 0 47 9 16.0714 PRICKLE2 0 genome.wustl.edu 37 3 64139008 64139008 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 64139008 64139008 G A SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known nonsense c.637 p.R213* 0.781 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 87 0 0 111 20 15.2672 CNTN3 0 genome.wustl.edu 37 3 74548935 74548935 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 74548935 74548935 A G SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known silent c.57 p.G19 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 80 0 0 84 10 10.6383 LMCD1 0 genome.wustl.edu 37 3 8590374 8590374 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 8590374 8590374 C T SNP LMCD1 ENST00000157600 human ensembl 74_37 +1 known missense c.508 p.R170C 0.944 pfam_PET_domain pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMCD1 HGNC ENSG00000071282 227 0 0 190 42 18.1034 OR5K1 0 genome.wustl.edu 37 3 98189198 98189198 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 98189198 98189198 G A SNP OR5K1 ENST00000332650 human ensembl 74_37 +1 known missense c.778 p.V260I 0.016 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 OR5K1 HGNC ENSG00000232382 51 0 0 51 13 20.3125 FILIP1L 0 genome.wustl.edu 37 3 99569223 99569223 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 99569223 99569223 C T SNP FILIP1L ENST00000354552 human ensembl 74_37 -1 known missense c.1297 p.A433T 1.000 superfamily_Prefoldin pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 88 0 0 70 15 17.6471 SLC9B2 0 genome.wustl.edu 37 4 103987654 103987654 + Missense_Mutation SNP A A T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 103987654 103987654 A T SNP SLC9B2 ENST00000362026 human ensembl 74_37 -1 known missense c.101 p.V34D 0.002 NULL pfam_Cation/H_exchanger - no_errors SLC9B2 HGNC ENSG00000164038 54 0 0 38 16 29.6296 HS3ST1 0 genome.wustl.edu 37 4 11401016 11401016 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 11401016 11401016 C T SNP HS3ST1 ENST00000002596 human ensembl 74_37 -1 known missense c.614 p.R205H 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST1 HGNC ENSG00000002587 32 0 0 23 10 30.303 TRAM1L1 0 genome.wustl.edu 37 4 118005713 118005713 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 118005713 118005713 C T SNP TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known silent c.837 p.S279 0.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 52 0 0 66 8 10.8108 USP53 0 genome.wustl.edu 37 4 120213686 120213686 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 120213686 120213686 T C SNP USP53 ENST00000274030 human ensembl 74_37 +1 known missense c.2542 p.S848P 0.040 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP53 HGNC ENSG00000145390 42 0 0 53 6 10.1695 TRPC3 0 genome.wustl.edu 37 4 122831397 122831397 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 122831397 122831397 C T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known silent c.1704 p.T568 0.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 72 0 0 74 19 20.4301 TRPC3 0 genome.wustl.edu 37 4 122853851 122853851 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 122853851 122853851 C T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known missense c.562 p.V188M 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 27 0 0 38 9 19.1489 CTBP1 0 genome.wustl.edu 37 4 1231910 1231910 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 1231910 1231910 C T SNP CTBP1 ENST00000510568 human ensembl 74_37 -1 putative missense c.223 p.G75R 0.000 NULL NULL - no_errors CTBP1 HGNC ENSG00000159692 62 0 0 72 7 8.86076 FAT4 0 genome.wustl.edu 37 4 126336784 126336784 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 126336784 126336784 C A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.6666 p.T2222 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 114 0 0 113 33 22.6027 FAT4 0 genome.wustl.edu 37 4 126369709 126369709 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 126369709 126369709 T G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.7538 p.F2513C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 69 0 0 87 18 17.1429 PCDH18 0 genome.wustl.edu 37 4 138442438 138442438 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 138442438 138442438 C T SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known silent c.3153 p.Q1051 0.949 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 53 0 0 59 9 13.2353 HHIP 0 genome.wustl.edu 37 4 145636568 145636568 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 145636568 145636568 G A SNP HHIP ENST00000296575 human ensembl 74_37 +1 known missense c.1664 p.G555E 1.000 NULL pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 78 0 0 90 27 23.0769 FBXW7 0 genome.wustl.edu 37 4 153249384 153249384 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 153249384 153249384 C T SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1394 p.R465H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 129 0 0 169 26 13.3333 CC2D2A 0 genome.wustl.edu 37 4 15518323 15518323 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 15518323 15518323 C A SNP CC2D2A ENST00000413206 human ensembl 74_37 +1 known missense c.1093 p.P365T 0.052 NULL superfamily_C2_dom,smart_C2_dom - no_errors CC2D2A HGNC ENSG00000048342 17 0 0 17 7 29.1667 CC2D2A 0 genome.wustl.edu 37 4 15602915 15602915 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 15602915 15602915 C T SNP CC2D2A ENST00000413206 human ensembl 74_37 +1 known missense c.4730 p.A1577V 1.000 NULL superfamily_C2_dom,smart_C2_dom - no_errors CC2D2A HGNC ENSG00000048342 17 0 0 10 4 28.5714 KLHL2 0 genome.wustl.edu 37 4 166160009 166160009 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 166160009 166160009 T C SNP KLHL2 ENST00000226725 human ensembl 74_37 +1 known silent c.339 p.Y113 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL2 HGNC ENSG00000109466 78 0 0 106 8 7.01754 TLL1 0 genome.wustl.edu 37 4 166964431 166964431 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 166964431 166964431 T C SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.1384 p.C462R 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 108 0 0 115 40 25.8065 TLL1 0 genome.wustl.edu 37 4 166976266 166976266 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 166976266 166976266 A C SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.1563 p.E521D 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 65 0 0 79 21 21 WDR17 0 genome.wustl.edu 37 4 177084444 177084444 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 177084444 177084444 G A SNP WDR17 ENST00000508596 human ensembl 74_37 +1 novel nonsense c.2990 p.W997* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR17 HGNC ENSG00000150627 38 0 0 45 11 19.6429 FGFR3 0 genome.wustl.edu 37 4 1807569 1807569 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 1807569 1807569 G A SNP FGFR3 ENST00000340107 human ensembl 74_37 +1 known missense c.1744 p.D582N 1.000 pirsf_FGF_rcpt_fam,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 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR3 HGNC ENSG00000068078 166 0 0 143 39 21.4286 LETM1 0 genome.wustl.edu 37 4 1816168 1816168 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 1816168 1816168 C T SNP LETM1 ENST00000302787 human ensembl 74_37 -1 known missense c.2203 p.A735T 0.063 NULL pfam_LETM1,pfscan_EF_hand_dom - no_errors LETM1 HGNC ENSG00000168924 57 0 0 60 21 25.9259 TENM3 0 genome.wustl.edu 37 4 183714673 183714673 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 183714673 183714673 C T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.6848 p.A2283V 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 30 0 0 30 10 25 PDLIM3 0 genome.wustl.edu 37 4 186423510 186423510 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 186423510 186423510 C T SNP PDLIM3 ENST00000284770 human ensembl 74_37 -1 known missense c.1033 p.A345T 1.000 pfscan_Znf_LIM pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM3 HGNC ENSG00000154553 105 0 0 89 32 26.4463 PDLIM3 0 genome.wustl.edu 37 4 186435431 186435431 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 186435431 186435431 G A SNP PDLIM3 ENST00000284770 human ensembl 74_37 -1 known nonsense c.391 p.R131* 1.000 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM3 HGNC ENSG00000154553 72 0 0 65 23 26.1364 FAT1 0 genome.wustl.edu 37 4 187521418 187521418 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 187521418 187521418 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.11737 p.A3913T 0.196 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 29 0 0 30 9 23.0769 FAT1 0 genome.wustl.edu 37 4 187630013 187630013 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 187630013 187630013 A G SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.969 p.I323 0.074 superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 207 0 0 252 64 20.2532 SLIT2 0 genome.wustl.edu 37 4 20535227 20535227 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 20535227 20535227 A G SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.1721 p.E574G 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 56 0 0 42 20 32.2581 NAT8L 0 genome.wustl.edu 37 4 2062836 2062836 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 2062836 2062836 G A SNP NAT8L ENST00000423729 human ensembl 74_37 +1 known missense c.488 p.C163Y 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT8L HGNC ENSG00000185818 35 0 0 45 5 10 SOD3 0 genome.wustl.edu 37 4 24801207 24801207 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 24801207 24801207 G A SNP SOD3 ENST00000382120 human ensembl 74_37 +1 known missense c.64 p.E22K 0.000 NULL pfam_SOD_Cu_Zn_dom,superfamily_SOD_Cu_Zn_dom,prints_SOD_Cu_Zn_dom - no_errors SOD3 HGNC ENSG00000109610 14 0 0 16 7 30.4348 NOP14 0 genome.wustl.edu 37 4 2948228 2948228 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 2948228 2948228 C T SNP NOP14 ENST00000416614 human ensembl 74_37 -1 known missense c.1546 p.A516T 0.000 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 85 0 0 73 23 23.9583 RGS12 0 genome.wustl.edu 37 4 3319206 3319206 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 3319206 3319206 C T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.1309 p.R437W 0.985 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 98 0 0 83 14 14.433 FAM86EP 0 genome.wustl.edu 37 4 3944404 3944404 + RNA SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 3944404 3944404 A G SNP FAM86EP ENST00000313946 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FAM86EP HGNC ENSG00000251669 9 0 0 14 4 22.2222 RBM47 0 genome.wustl.edu 37 4 40439824 40439824 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 40439824 40439824 C T SNP RBM47 ENST00000295971 human ensembl 74_37 -1 known missense c.1087 p.A363T 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 62 0 0 42 14 25 LIMCH1 0 genome.wustl.edu 37 4 41652581 41652581 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 41652581 41652581 G A SNP LIMCH1 ENST00000503057 human ensembl 74_37 +1 known missense c.2992 p.E998K 0.986 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 33 0 0 24 7 22.5806 NSG1 0 genome.wustl.edu 37 4 4393208 4393208 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 4393208 4393208 G A SNP NSG1 ENST00000397958 human ensembl 74_37 +1 known missense c.136 p.V46M 1.000 pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp - no_errors NSG1 Uniprot_gn ENSG00000168824 57 0 0 55 4 6.77966 NSG1 0 genome.wustl.edu 37 4 4419143 4419143 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 4419143 4419143 C T SNP NSG1 ENST00000397958 human ensembl 74_37 +1 known missense c.539 p.A180V 1.000 pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp - no_errors NSG1 Uniprot_gn ENSG00000168824 111 0 0 97 21 17.7966 TXK 0 genome.wustl.edu 37 4 48082120 48082120 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 48082120 48082120 G A SNP TXK ENST00000264316 human ensembl 74_37 -1 known nonsense c.982 p.Q328* 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors TXK HGNC ENSG00000074966 85 0 0 103 11 9.64912 MSX1 0 genome.wustl.edu 37 4 4864504 4864504 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 4864504 4864504 G A SNP MSX1 ENST00000382723 human ensembl 74_37 +1 known silent c.546 p.A182 0.994 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MSX1 HGNC ENSG00000163132 150 0 0 124 36 22.5 CWH43 0 genome.wustl.edu 37 4 49005981 49005981 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 49005981 49005981 C T SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known silent c.1032 p.Y344 0.904 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 22 0 0 27 5 15.625 LRRC66 0 genome.wustl.edu 37 4 52861636 52861636 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 52861636 52861636 G A SNP LRRC66 ENST00000343457 human ensembl 74_37 -1 known missense c.1552 p.R518C 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 118 0 0 149 17 10.241 SNORA26 0 genome.wustl.edu 37 4 53579473 53579473 + RNA SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 53579473 53579473 G C SNP SNORA26 ENST00000391286 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORA26 HGNC ENSG00000212588 99 0 0 123 12 8.88889 SCFD2 0 genome.wustl.edu 37 4 54011688 54011688 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 54011688 54011688 A G SNP SCFD2 ENST00000401642 human ensembl 74_37 -1 known missense c.1373 p.V458A 0.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD2 HGNC ENSG00000184178 77 0 0 86 25 22.5225 KDR 0 genome.wustl.edu 37 4 55980356 55980356 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 55980356 55980356 A G SNP KDR ENST00000263923 human ensembl 74_37 -1 known silent c.735 p.N245 0.999 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 106 0 0 84 29 25.6637 CRMP1 0 genome.wustl.edu 37 4 5827286 5827286 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 5827286 5827286 G T SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known missense c.1904 p.S635Y 0.997 NULL pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 72 0 0 66 25 27.4725 KIAA0232 0 genome.wustl.edu 37 4 6863794 6863794 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 6863794 6863794 G T SNP KIAA0232 ENST00000307659 human ensembl 74_37 +1 known missense c.1685 p.G562V 1.000 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 106 0 0 120 7 5.51181 TBC1D14 0 genome.wustl.edu 37 4 6925582 6925582 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 6925582 6925582 G A SNP TBC1D14 ENST00000409757 human ensembl 74_37 +1 known missense c.466 p.V156I 0.001 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D14 HGNC ENSG00000132405 94 0 0 126 9 6.66667 UGT2B7 0 genome.wustl.edu 37 4 69973946 69973946 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 69973946 69973946 A G SNP UGT2B7 ENST00000305231 human ensembl 74_37 +1 known missense c.1216 p.M406V 0.686 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B7 HGNC ENSG00000171234 147 0 0 151 31 17.033 SULT1E1 0 genome.wustl.edu 37 4 70707770 70707770 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 70707770 70707770 T G SNP SULT1E1 ENST00000226444 human ensembl 74_37 -1 known missense c.827 p.D276A 0.989 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1E1 HGNC ENSG00000109193 41 0 0 58 10 14.7059 ANKRD17 0 genome.wustl.edu 37 4 73963938 73963938 + Missense_Mutation SNP C C G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 73963938 73963938 C G SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.4873 p.E1625Q 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 ANKRD17 HGNC ENSG00000132466 180 0 0 143 48 25.1309 AFM 0 genome.wustl.edu 37 4 74354476 74354476 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 74354476 74354476 G A SNP AFM ENST00000226355 human ensembl 74_37 +1 known silent c.843 p.T281 0.830 pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB,prints_Alpha-fetoprotein - no_errors AFM HGNC ENSG00000079557 64 0 0 86 26 23.2143 SHROOM3 0 genome.wustl.edu 37 4 77662468 77662468 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 77662468 77662468 C T SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.3142 p.R1048C 0.006 pfam_ASD1 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 27 0 0 43 12 21.8182 SHROOM3 0 genome.wustl.edu 37 4 77675852 77675852 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 77675852 77675852 G A SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.4216 p.D1406N 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 34 0 0 48 11 18.6441 SHROOM3 0 genome.wustl.edu 37 4 77700112 77700112 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 77700112 77700112 G A SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.5773 p.V1925M 1.000 pfam_ASD2 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 77 0 0 81 5 5.81395 PRDM8 0 genome.wustl.edu 37 4 81123234 81123234 + Silent SNP C C G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 81123234 81123234 C G SNP PRDM8 ENST00000339711 human ensembl 74_37 +1 known silent c.618 p.G206 0.875 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM8 HGNC ENSG00000152784 74 0 0 86 21 19.6262 HTRA3 0 genome.wustl.edu 37 4 8271767 8271767 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 8271767 8271767 G A SNP HTRA3 ENST00000307358 human ensembl 74_37 +1 known silent c.72 p.P24 0.753 smart_IGFBP-like pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA3 HGNC ENSG00000170801 15 0 0 8 3 27.2727 HELQ 0 genome.wustl.edu 37 4 84374936 84374936 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 84374936 84374936 T C SNP HELQ ENST00000295488 human ensembl 74_37 -1 known missense c.460 p.K154E 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 197 0 0 197 59 23.0469 WDFY3 0 genome.wustl.edu 37 4 85750199 85750199 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 85750199 85750199 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.914 p.R305Q 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 60 0 0 72 18 20 GPR78 0 genome.wustl.edu 37 4 8583065 8583065 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 8583065 8583065 G A SNP GPR78 ENST00000382487 human ensembl 74_37 +1 known missense c.356 p.R119Q 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR78 HGNC ENSG00000155269 22 0 0 11 5 31.25 MAPK10 0 genome.wustl.edu 37 4 87080618 87080618 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 87080618 87080618 T C SNP MAPK10 ENST00000359221 human ensembl 74_37 -1 known silent c.69 p.G23 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom - no_errors MAPK10 HGNC ENSG00000109339 50 0 0 49 19 27.9412 CCSER1 0 genome.wustl.edu 37 4 91389426 91389426 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 91389426 91389426 G A SNP CCSER1 ENST00000333691 human ensembl 74_37 +1 known missense c.1645 p.A549T 0.986 NULL NULL - no_errors CCSER1 HGNC ENSG00000184305 29 0 0 24 5 17.2414 DRD5 0 genome.wustl.edu 37 4 9784458 9784458 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 9784458 9784458 G A SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known missense c.805 p.A269T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D5_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 55 0 0 69 13 15.8537 IDUA 0 genome.wustl.edu 37 4 994718 994718 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 994718 994718 A G SNP IDUA ENST00000453894 human ensembl 74_37 +1 known missense c.293 p.D98G 1.000 pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39 - no_errors IDUA HGNC ENSG00000127415 106 1 0.934579 74 15 16.8539 NKD2 0 genome.wustl.edu 37 5 1036427 1036427 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 1036427 1036427 G A SNP NKD2 ENST00000296849 human ensembl 74_37 +1 known missense c.715 p.E239K 1.000 NULL pfscan_EF_hand_dom - no_errors NKD2 HGNC ENSG00000145506 51 0 0 34 15 30.6122 MARCH6 0 genome.wustl.edu 37 5 10387155 10387155 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 10387155 10387155 G A SNP MARCH6 ENST00000274140 human ensembl 74_37 +1 known silent c.384 p.T128 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 57 0 0 60 18 23.0769 MARCH6 0 genome.wustl.edu 37 5 10402655 10402655 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 10402655 10402655 T C SNP MARCH6 ENST00000274140 human ensembl 74_37 +1 known missense c.1133 p.L378S 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 228 0 0 253 51 16.7763 SLC12A7 0 genome.wustl.edu 37 5 1076272 1076272 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 1076272 1076272 G A SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known missense c.1828 p.R610C 0.999 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 19 0 0 16 4 20 STARD4 0 genome.wustl.edu 37 5 110843028 110843028 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 110843028 110843028 G A SNP STARD4 ENST00000296632 human ensembl 74_37 -1 known missense c.104 p.T35M 0.724 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors STARD4 HGNC ENSG00000164211 49 0 0 59 14 19.1781 MCC 0 genome.wustl.edu 37 5 112420983 112420983 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 112420983 112420983 G A SNP MCC ENST00000302475 human ensembl 74_37 -1 known nonsense c.853 p.Q285* 1.000 pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 152 0 0 177 47 20.9821 MCC 0 genome.wustl.edu 37 5 112720764 112720764 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 112720764 112720764 T C SNP MCC ENST00000408903 human ensembl 74_37 -1 putative missense c.316 p.K106E 1.000 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MCC HGNC ENSG00000171444 87 0 0 91 29 24.1667 AQPEP 0 genome.wustl.edu 37 5 115327828 115327828 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 115327828 115327828 G T SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known missense c.1114 p.A372S 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 55 0 0 57 13 18.5714 CTNND2 0 genome.wustl.edu 37 5 11565071 11565071 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 11565071 11565071 C T SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.272 p.S91N 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 37 0 0 25 8 24.2424 SNX24 0 genome.wustl.edu 37 5 122272428 122272428 + Splice_Site SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 122272428 122272428 G A SNP SNX24 ENST00000261369 human ensembl 74_37 +1 known splice_site c.61-1 e2-1 1.000 - - - no_errors SNX24 HGNC ENSG00000064652 42 0 0 48 6 11.1111 CSNK1G3 0 genome.wustl.edu 37 5 122926250 122926250 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 122926250 122926250 T C SNP CSNK1G3 ENST00000360683 human ensembl 74_37 +1 known silent c.988 p.L330 1.000 pfam_Casein_kinase-1_gamma_C pfam_Prot_kinase_dom,pfam_Casein_kinase-1_gamma_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1G3 HGNC ENSG00000151292 73 0 0 91 29 24.1667 CSNK1G3 0 genome.wustl.edu 37 5 122941058 122941058 + Splice_Site SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 122941058 122941058 T C SNP CSNK1G3 ENST00000360683 human ensembl 74_37 +1 known splice_site c.1313+2 e12+2 1.000 - - - no_errors CSNK1G3 HGNC ENSG00000151292 24 0 0 29 11 27.5 LMNB1 0 genome.wustl.edu 37 5 126145904 126145904 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 126145904 126145904 G A SNP LMNB1 ENST00000261366 human ensembl 74_37 +1 known silent c.675 p.T225 0.070 pfam_IF pfam_IF,pfam_Lamin_tail_dom - no_errors LMNB1 HGNC ENSG00000113368 86 0 0 102 41 28.6713 FBN2 0 genome.wustl.edu 37 5 127873289 127873289 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 127873289 127873289 C A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.8 p.R3I 1.000 pirsf_FBN pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 11 0 0 18 6 25 SLC27A6 0 genome.wustl.edu 37 5 128326065 128326065 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 128326065 128326065 G A SNP SLC27A6 ENST00000262462 human ensembl 74_37 +1 known missense c.877 p.A293T 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A6 HGNC ENSG00000113396 48 0 0 35 10 22.2222 TERT 0 genome.wustl.edu 37 5 1294215 1294215 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 1294215 1294215 C T SNP TERT ENST00000310581 human ensembl 74_37 -1 known silent c.786 p.T262 0.000 NULL pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 13 0 0 14 3 17.6471 TERT 0 genome.wustl.edu 37 5 1294686 1294686 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 1294686 1294686 G A SNP TERT ENST00000310581 human ensembl 74_37 -1 known silent c.315 p.D105 0.111 NULL pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 17 0 0 18 5 21.7391 AFF4 0 genome.wustl.edu 37 5 132227943 132227943 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 132227943 132227943 C T SNP AFF4 ENST00000265343 human ensembl 74_37 -1 known silent c.2550 p.E850 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 129 0 0 113 37 24.6667 FSTL4 0 genome.wustl.edu 37 5 132736552 132736552 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 132736552 132736552 C T SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known missense c.287 p.S96N 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 64 0 0 39 12 23.5294 IL9 0 genome.wustl.edu 37 5 135229823 135229823 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 135229823 135229823 T C SNP IL9 ENST00000274520 human ensembl 74_37 -1 known silent c.201 p.P67 0.207 pfam_IL-7/IL-9_fam,prints_IL-9 pfam_IL-7/IL-9_fam,prints_IL-9 - no_errors IL9 HGNC ENSG00000145839 38 0 0 36 10 21.7391 EGR1 0 genome.wustl.edu 37 5 137803327 137803327 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 137803327 137803327 G A SNP EGR1 ENST00000239938 human ensembl 74_37 +1 known missense c.1189 p.A397T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 89 0 0 84 22 20.7547 CTNNA1 0 genome.wustl.edu 37 5 138160240 138160240 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 138160240 138160240 C T SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known missense c.610 p.R204C 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 30 0 0 41 7 14.5833 DNAH5 0 genome.wustl.edu 37 5 13864742 13864742 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 13864742 13864742 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known nonsense c.4360 p.R1454* 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 65 0 0 48 8 14.2857 PCDHA1 0 genome.wustl.edu 37 5 140167229 140167229 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140167229 140167229 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.1354 p.A452T 0.940 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 132 0 0 137 41 23.0337 PCDHA3 0 genome.wustl.edu 37 5 140180965 140180965 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140180965 140180965 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.183 p.P61 0.998 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 186 0 0 155 59 27.5701 PCDHA5 0 genome.wustl.edu 37 5 140202785 140202785 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140202785 140202785 G A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known silent c.1425 p.T475 0.619 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 131 0 0 160 41 20.398 PCDHA7 0 genome.wustl.edu 37 5 140214150 140214150 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140214150 140214150 C T SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.182 p.P61L 0.990 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 187 0 0 198 60 23.2558 PCDHA9 0 genome.wustl.edu 37 5 140230196 140230196 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140230196 140230196 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.2116 p.A706T 0.977 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 142 0 0 147 22 13.0178 PCDHA11 0 genome.wustl.edu 37 5 140250403 140250403 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140250403 140250403 C T SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1715 p.A572V 0.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 222 0 0 220 66 23.0769 PCDHA13 0 genome.wustl.edu 37 5 140263126 140263126 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140263126 140263126 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.1273 p.V425M 0.948 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 236 0 0 197 52 20.8835 PCDHAC1 0 genome.wustl.edu 37 5 140306566 140306566 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140306566 140306566 C T SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known missense c.89 p.T30M 0.580 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 40 0 0 58 12 17.1429 PCDHB3 0 genome.wustl.edu 37 5 140481822 140481822 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140481822 140481822 G A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1589 p.R530H 0.016 pfam_Cadherin,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 PCDHB3 HGNC ENSG00000113205 107 0 0 111 22 16.5414 PCDHB4 0 genome.wustl.edu 37 5 140503287 140503287 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140503287 140503287 G A SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known silent c.1707 p.A569 0.189 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 84 0 0 82 7 7.86517 PCDHB6 0 genome.wustl.edu 37 5 140530844 140530844 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140530844 140530844 C A SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.1006 p.L336M 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 PCDHB6 HGNC ENSG00000113211 53 0 0 85 13 13.2653 PCDHB10 0 genome.wustl.edu 37 5 140574069 140574069 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140574069 140574069 C T SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known silent c.1944 p.G648 0.193 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 66 0 0 89 9 9.18367 PCDHB10 0 genome.wustl.edu 37 5 140574284 140574284 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140574284 140574284 G T SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known missense c.2159 p.R720M 0.041 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 131 0 0 132 50 27.4725 TAF7 0 genome.wustl.edu 37 5 140698938 140698938 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140698938 140698938 T G SNP TAF7 ENST00000313368 human ensembl 74_37 -1 known missense c.674 p.D225A 1.000 NULL pfam_TAFII55_prot_cons_reg - no_errors TAF7 HGNC ENSG00000178913 124 0 0 102 26 20.3125 PCDHGA5 0 genome.wustl.edu 37 5 140744572 140744572 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140744572 140744572 C T SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known silent c.675 p.T225 0.006 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 90 0 0 72 21 22.5806 PCDHGA7 0 genome.wustl.edu 37 5 140763804 140763804 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140763804 140763804 C T SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known silent c.1338 p.N446 0.580 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 75 0 0 65 10 13.3333 PCDHGA7 0 genome.wustl.edu 37 5 140764094 140764094 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140764094 140764094 G T SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.1628 p.S543I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 117 0 0 112 30 21.1268 PCDHGA12 0 genome.wustl.edu 37 5 140810583 140810583 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140810583 140810583 C T SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.257 p.T86M 0.001 pfam_Cadherin_N,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 PCDHGA12 HGNC ENSG00000253159 143 0 0 139 41 22.7778 ARAP3 0 genome.wustl.edu 37 5 141051462 141051462 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 141051462 141051462 C A SNP ARAP3 ENST00000239440 human ensembl 74_37 -1 known missense c.1671 p.Q557H 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 142 0 0 124 32 20.5128 TRIO 0 genome.wustl.edu 37 5 14280525 14280525 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 14280525 14280525 C A SNP TRIO ENST00000344204 human ensembl 74_37 +1 known silent c.327 p.S109 0.880 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 77 0 0 66 15 18.5185 TRIO 0 genome.wustl.edu 37 5 14381308 14381308 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 14381308 14381308 C T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known nonsense c.3517 p.Q1173* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 74 0 0 78 14 15.2174 POU4F3 0 genome.wustl.edu 37 5 145719620 145719620 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 145719620 145719620 G A SNP POU4F3 ENST00000230732 human ensembl 74_37 +1 known silent c.630 p.A210 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F3 HGNC ENSG00000091010 79 0 0 82 24 22.6415 GPR151 0 genome.wustl.edu 37 5 145894834 145894834 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 145894834 145894834 C T SNP GPR151 ENST00000311104 human ensembl 74_37 -1 known silent c.843 p.P281 0.009 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR151 HGNC ENSG00000173250 55 0 0 42 15 26.3158 CD74 0 genome.wustl.edu 37 5 149786868 149786868 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 149786868 149786868 G T SNP CD74 ENST00000009530 human ensembl 74_37 -1 known missense c.145 p.L49M 0.998 pfam_MHC_II-assoc_invar/CLIP_MHC-bd,pirsf_MHC_II-assoc_invar_chain,prints_MHC_II-assoc_invar_chain pfam_MHC_II-assoc_invar/CLIP_MHC-bd,pfam_MHC_II-assoc_invariant_trimer,pfam_Thyroglobulin_1,superfamily_MHC_II-assoc_invariant_trimer,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_MHC_II-assoc_invar_chain,pfscan_Thyroglobulin_1,prints_MHC_II-assoc_invar_chain - no_errors CD74 HGNC ENSG00000019582 27 0 0 18 6 25 FAT2 0 genome.wustl.edu 37 5 150901208 150901208 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 150901208 150901208 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.10946 p.R3649Q 1.000 NULL pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 31 0 0 28 8 22.2222 FAT2 0 genome.wustl.edu 37 5 150924878 150924878 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 150924878 150924878 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.5810 p.R1937Q 0.284 superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 98 0 0 77 20 20.6186 KIF4B 0 genome.wustl.edu 37 5 154393631 154393631 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 154393631 154393631 C T SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.212 p.P71L 0.978 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 70 0 0 79 31 28.1818 CYFIP2 0 genome.wustl.edu 37 5 156819995 156819995 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 156819995 156819995 C T SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.3824 p.A1275V 1.000 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 56 0 0 53 12 18.4615 CCNJL 0 genome.wustl.edu 37 5 159680469 159680469 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 159680469 159680469 C T SNP CCNJL ENST00000393977 human ensembl 74_37 -1 known silent c.1224 p.E408 0.995 NULL pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJL HGNC ENSG00000135083 78 0 0 86 18 17.3077 GABRP 0 genome.wustl.edu 37 5 170239071 170239071 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 170239071 170239071 G A SNP GABRP ENST00000265294 human ensembl 74_37 +1 known missense c.1132 p.V378I 0.004 superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRP HGNC ENSG00000094755 95 0 0 97 29 23.0159 FGF18 0 genome.wustl.edu 37 5 170863239 170863239 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 170863239 170863239 G A SNP FGF18 ENST00000274625 human ensembl 74_37 +1 known missense c.212 p.R71H 0.999 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF18 HGNC ENSG00000156427 32 0 0 27 5 15.625 TSPAN17 0 genome.wustl.edu 37 5 176078840 176078840 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 176078840 176078840 C T SNP TSPAN17 ENST00000310032 human ensembl 74_37 +1 known missense c.224 p.S75L 0.808 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN17 HGNC ENSG00000048140 120 0 0 117 34 22.5166 GRM6 0 genome.wustl.edu 37 5 178416051 178416051 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 178416051 178416051 G A SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known silent c.1239 p.H413 0.996 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 31 0 0 28 6 17.6471 RASGEF1C 0 genome.wustl.edu 37 5 179545670 179545670 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 179545670 179545670 T C SNP RASGEF1C ENST00000361132 human ensembl 74_37 -1 known missense c.1022 p.Y341C 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 140 0 0 104 38 26.7606 BTNL8 0 genome.wustl.edu 37 5 180374673 180374673 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 180374673 180374673 G A SNP BTNL8 ENST00000231229 human ensembl 74_37 +1 known missense c.835 p.A279T 0.001 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors BTNL8 HGNC ENSG00000113303 219 0 0 247 64 20.5788 OR2V2 0 genome.wustl.edu 37 5 180582210 180582210 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 180582210 180582210 A G SNP OR2V2 ENST00000328275 human ensembl 74_37 +1 known missense c.268 p.R90G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2V2 HGNC ENSG00000182613 144 0 0 138 36 20.6897 CDH12 0 genome.wustl.edu 37 5 22078617 22078617 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 22078617 22078617 C T SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.169 p.V57I 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 106 0 0 115 32 21.7687 TARS 0 genome.wustl.edu 37 5 33448677 33448677 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 33448677 33448677 C T SNP TARS ENST00000265112 human ensembl 74_37 +1 known missense c.169 p.R57C 1.000 NULL pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC ENSG00000113407 65 0 0 67 18 21.1765 AHRR 0 genome.wustl.edu 37 5 353858 353858 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 353858 353858 G T SNP AHRR ENST00000316418 human ensembl 74_37 +1 known missense c.88 p.G30W 0.559 pfscan_bHLH_dom pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors AHRR HGNC ENSG00000063438 41 0 0 49 7 12.5 IRX1 0 genome.wustl.edu 37 5 3599821 3599821 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 3599821 3599821 C T SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known silent c.759 p.H253 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 57 0 0 59 11 15.7143 NUP155 0 genome.wustl.edu 37 5 37292071 37292071 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 37292071 37292071 C T SNP NUP155 ENST00000231498 human ensembl 74_37 -1 known silent c.4107 p.S1369 0.005 NULL pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 55 0 0 49 19 27.9412 RICTOR 0 genome.wustl.edu 37 5 38981989 38981989 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 38981989 38981989 G A SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known nonsense c.733 p.R245* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 112 0 0 104 21 16.8 AHRR 0 genome.wustl.edu 37 5 427974 427974 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 427974 427974 C T SNP AHRR ENST00000316418 human ensembl 74_37 +1 known missense c.827 p.A276V 0.978 NULL pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors AHRR HGNC ENSG00000063438 47 0 0 43 15 25.8621 AHRR 0 genome.wustl.edu 37 5 432970 432970 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 432970 432970 C T SNP AHRR ENST00000316418 human ensembl 74_37 +1 known silent c.1086 p.D362 0.000 NULL pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors AHRR HGNC ENSG00000063438 63 0 0 55 10 15.3846 SNX18 0 genome.wustl.edu 37 5 53815285 53815285 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 53815285 53815285 C T SNP SNX18 ENST00000326277 human ensembl 74_37 +1 known silent c.1503 p.D501 0.028 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX18 HGNC ENSG00000178996 85 0 0 73 26 26.2626 KIAA0947 0 genome.wustl.edu 37 5 5463579 5463579 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 5463579 5463579 A G SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.4132 p.M1378V 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 11 0 0 23 4 14.8148 DDX4 0 genome.wustl.edu 37 5 55094298 55094298 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 55094298 55094298 T C SNP DDX4 ENST00000505374 human ensembl 74_37 +1 known missense c.1514 p.V505A 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX4 HGNC ENSG00000152670 87 0 0 107 40 27.2109 IL6ST 0 genome.wustl.edu 37 5 55237472 55237472 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 55237472 55237472 G A SNP IL6ST ENST00000336909 human ensembl 74_37 -1 known missense c.2195 p.S732L 1.000 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 161 0 0 183 13 6.63265 TRIM23 0 genome.wustl.edu 37 5 64905260 64905260 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 64905260 64905260 C T SNP TRIM23 ENST00000231524 human ensembl 74_37 -1 known missense c.854 p.R285Q 1.000 smart_Bbox_C pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,superfamily_P-loop_NTPase,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors TRIM23 HGNC ENSG00000113595 36 0 0 42 7 14.2857 MAST4 0 genome.wustl.edu 37 5 66440594 66440594 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 66440594 66440594 C T SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.2837 p.T946I 0.994 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 22 0 0 26 11 29.7297 PIK3R1 0 genome.wustl.edu 37 5 67584576 67584576 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 67584576 67584576 C T SNP PIK3R1 ENST00000320694 human ensembl 74_37 +1 known nonsense c.13 p.Q5* 1.000 NULL pfam_SH2,superfamily_Guanylate-bd_C,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 88 0 0 98 11 10.0917 MAP1B 0 genome.wustl.edu 37 5 71494154 71494154 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 71494154 71494154 C A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.4972 p.L1658I 0.974 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 73 0 0 87 23 20.9091 ZNF366 0 genome.wustl.edu 37 5 71756036 71756036 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 71756036 71756036 A G SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known missense c.1288 p.F430L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 44 0 0 42 14 25 TMEM171 0 genome.wustl.edu 37 5 72419520 72419520 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 72419520 72419520 G A SNP TMEM171 ENST00000454765 human ensembl 74_37 +1 known missense c.320 p.R107H 1.000 NULL NULL - no_errors TMEM171 HGNC ENSG00000157111 87 0 0 68 18 20.9302 DMGDH 0 genome.wustl.edu 37 5 78359538 78359538 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 78359538 78359538 G A SNP DMGDH ENST00000255189 human ensembl 74_37 -1 known silent c.174 p.G58 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors DMGDH HGNC ENSG00000132837 74 0 0 73 20 21.5054 CMYA5 0 genome.wustl.edu 37 5 79033022 79033022 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 79033022 79033022 C A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.8434 p.L2812M 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 40 0 0 30 9 23.0769 CMYA5 0 genome.wustl.edu 37 5 79058947 79058947 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 79058947 79058947 C T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known nonsense c.11470 p.R3824* 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 31 0 0 29 8 21.6216 VCAN 0 genome.wustl.edu 37 5 82808007 82808007 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 82808007 82808007 A G SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.834 p.A278 0.154 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 34 0 0 54 10 15.625 VCAN 0 genome.wustl.edu 37 5 82808055 82808055 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 82808055 82808055 C T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.882 p.C294 0.989 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 39 0 0 42 9 17.6471 NR2F1 0 genome.wustl.edu 37 5 92923699 92923699 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 92923699 92923699 C T SNP NR2F1 ENST00000327111 human ensembl 74_37 +1 known silent c.540 p.N180 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F1 HGNC ENSG00000175745 104 0 0 110 10 8.33333 FAM81B 0 genome.wustl.edu 37 5 94772542 94772542 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 94772542 94772542 T C SNP FAM81B ENST00000283357 human ensembl 74_37 +1 known silent c.825 p.P275 0.740 NULL NULL - no_errors FAM81B HGNC ENSG00000153347 46 0 0 64 16 20 PCSK1 0 genome.wustl.edu 37 5 95735793 95735793 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 95735793 95735793 C A SNP PCSK1 ENST00000311106 human ensembl 74_37 -1 known missense c.1294 p.G432C 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 77 0 0 80 14 14.8936 SIM1 0 genome.wustl.edu 37 6 100896434 100896434 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 100896434 100896434 C T SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known missense c.664 p.V222I 1.000 smart_PAS pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 45 0 0 56 5 8.19672 TFAP2A 0 genome.wustl.edu 37 6 10415184 10415184 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 10415184 10415184 T G SNP TFAP2A ENST00000379604 human ensembl 74_37 -1 known missense c.35 p.E12A 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC ENSG00000137203 105 0 0 91 23 20.1754 PAK1IP1 0 genome.wustl.edu 37 6 10709492 10709492 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 10709492 10709492 T C SNP PAK1IP1 ENST00000379568 human ensembl 74_37 +1 known missense c.986 p.I329T 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAK1IP1 HGNC ENSG00000111845 34 0 0 36 3 7.69231 BEND3 0 genome.wustl.edu 37 6 107390524 107390524 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 107390524 107390524 C T SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known missense c.1871 p.R624H 0.443 pfam_BEN_domain pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 44 0 0 38 10 20.8333 FOXO3 0 genome.wustl.edu 37 6 108882982 108882982 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 108882982 108882982 G A SNP FOXO3 ENST00000343882 human ensembl 74_37 +1 known missense c.571 p.V191M 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO3 HGNC ENSG00000118689 47 0 0 49 15 23.4375 MICAL1 0 genome.wustl.edu 37 6 109770679 109770679 + Silent SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 109770679 109770679 T G SNP MICAL1 ENST00000368952 human ensembl 74_37 -1 known silent c.1497 p.R499 0.991 superfamily_CH-domain pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 133 0 0 125 19 13.1944 KIAA1919 0 genome.wustl.edu 37 6 111587419 111587419 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 111587419 111587419 T C SNP KIAA1919 ENST00000368847 human ensembl 74_37 +1 known silent c.654 p.A218 0.049 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 38 0 0 23 11 32.3529 LAMA4 0 genome.wustl.edu 37 6 112486362 112486362 + Missense_Mutation SNP C C G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 112486362 112486362 C G SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.1668 p.K556N 1.000 NULL pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 43 0 0 71 16 18.3908 COL10A1 0 genome.wustl.edu 37 6 116442817 116442817 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 116442817 116442817 C T SNP COL10A1 ENST00000243222 human ensembl 74_37 -1 known silent c.462 p.V154 0.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL10A1 HGNC ENSG00000123500 30 0 0 36 13 26.5306 SOGA3 0 genome.wustl.edu 37 6 127796446 127796446 + Splice_Site SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 127796446 127796446 C T SNP SOGA3 ENST00000465909 human ensembl 74_37 -1 novel splice_site c.2724+1 e5+1 1.000 - - - no_errors SOGA3 HGNC ENSG00000214338 80 0 0 66 9 12 THEMIS 0 genome.wustl.edu 37 6 128040862 128040862 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 128040862 128040862 C A SNP THEMIS ENST00000543064 human ensembl 74_37 -1 known missense c.1982 p.R661M 0.024 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 74 0 0 64 14 17.9487 PTPRK 0 genome.wustl.edu 37 6 128298086 128298086 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 128298086 128298086 G A SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known silent c.3876 p.N1292 1.000 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,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,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,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 68 0 0 69 21 23.3333 SAMD3 0 genome.wustl.edu 37 6 130535492 130535492 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 130535492 130535492 C T SNP SAMD3 ENST00000368134 human ensembl 74_37 -1 known missense c.259 p.A87T 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD3 HGNC ENSG00000164483 124 0 0 122 33 21.2903 ENPP3 0 genome.wustl.edu 37 6 132004249 132004249 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 132004249 132004249 T C SNP ENPP3 ENST00000357639 human ensembl 74_37 +1 known missense c.1067 p.L356P 0.941 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 79 0 0 84 20 19.2308 MOXD1 0 genome.wustl.edu 37 6 132643997 132643997 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 132643997 132643997 C T SNP MOXD1 ENST00000367963 human ensembl 74_37 -1 known missense c.1126 p.E376K 1.000 superfamily_PHM/PNGase_F_dom pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors MOXD1 HGNC ENSG00000079931 20 0 0 20 8 28.5714 AHI1 0 genome.wustl.edu 37 6 135644405 135644405 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 135644405 135644405 C T SNP AHI1 ENST00000265602 human ensembl 74_37 -1 known missense c.3223 p.G1075R 0.986 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 26 0 0 29 6 17.1429 KIAA1244 0 genome.wustl.edu 37 6 138584543 138584543 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 138584543 138584543 G A SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known silent c.1923 p.E641 1.000 superfamily_ARM-type_fold,smart_Sec7_dom pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 159 0 0 108 41 27.5168 KIAA1244 0 genome.wustl.edu 37 6 138619777 138619777 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 138619777 138619777 A C SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.3683 p.K1228T 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 20 0 0 19 9 32.1429 HECA 0 genome.wustl.edu 37 6 139487988 139487988 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 139487988 139487988 T G SNP HECA ENST00000367658 human ensembl 74_37 +1 known missense c.839 p.L280R 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 46 0 0 37 5 11.9048 GPR126 0 genome.wustl.edu 37 6 142725013 142725013 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 142725013 142725013 G A SNP GPR126 ENST00000367609 human ensembl 74_37 +1 known missense c.2030 p.R677Q 0.011 NULL pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 60 0 0 53 16 23.1884 LTV1 0 genome.wustl.edu 37 6 144184235 144184235 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 144184235 144184235 C T SNP LTV1 ENST00000367576 human ensembl 74_37 +1 known nonsense c.1129 p.R377* 0.986 pfam_LTV pfam_LTV - no_errors LTV1 HGNC ENSG00000135521 58 0 0 78 10 11.3636 PLEKHG1 0 genome.wustl.edu 37 6 151054882 151054882 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 151054882 151054882 G A SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known missense c.65 p.R22H 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 109 0 0 94 20 17.5439 MTHFD1L 0 genome.wustl.edu 37 6 151281486 151281486 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 151281486 151281486 G A SNP MTHFD1L ENST00000367321 human ensembl 74_37 +1 known missense c.1879 p.A627T 0.104 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 31 0 0 25 16 39.0244 SYNE1 0 genome.wustl.edu 37 6 152614845 152614845 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 152614845 152614845 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.17890 p.R5964C 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 106 0 0 102 39 27.6596 SYNE1 0 genome.wustl.edu 37 6 152652706 152652706 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 152652706 152652706 T C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.13114 p.K4372E 0.611 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 57 0 0 56 13 18.8406 NOX3 0 genome.wustl.edu 37 6 155764413 155764413 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 155764413 155764413 G A SNP NOX3 ENST00000159060 human ensembl 74_37 -1 known silent c.480 p.F160 0.860 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 35 0 0 52 13 20 SYNJ2 0 genome.wustl.edu 37 6 158505106 158505106 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 158505106 158505106 C T SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known silent c.3108 p.L1036 0.000 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 286 0 0 271 71 20.7602 TULP4 0 genome.wustl.edu 37 6 158870165 158870165 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 158870165 158870165 C T SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known silent c.681 p.S227 1.000 superfamily_WD40_repeat_dom pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 94 0 0 67 20 22.9885 TAGAP 0 genome.wustl.edu 37 6 159457405 159457405 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 159457405 159457405 G A SNP TAGAP ENST00000367066 human ensembl 74_37 -1 known silent c.1650 p.A550 0.269 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors TAGAP HGNC ENSG00000164691 104 0 0 105 28 21.0526 PLG 0 genome.wustl.edu 37 6 161137727 161137727 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 161137727 161137727 A G SNP PLG ENST00000308192 human ensembl 74_37 +1 known missense c.719 p.E240G 1.000 pirsf_Pept_S1A_plasmin,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 41 0 0 38 17 30.9091 PARK2 0 genome.wustl.edu 37 6 161771164 161771164 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 161771164 161771164 G A SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known silent c.1365 p.R455 0.994 pfam_Znf_C6HC,smart_Znf_C6HC,pirsf_Parkin,prints_Parkin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 36 0 0 47 4 7.84314 PARK2 0 genome.wustl.edu 37 6 161807880 161807880 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 161807880 161807880 C T SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known silent c.1113 p.A371 0.000 pfam_Znf_C6HC,smart_Znf_C6HC,pirsf_Parkin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 94 0 0 114 10 8.06452 CCR6 0 genome.wustl.edu 37 6 167550824 167550824 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 167550824 167550824 C T SNP CCR6 ENST00000341935 human ensembl 74_37 +1 known missense c.1106 p.A369V 0.000 prints_Chemokine_CCR6 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR6,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CXCR_1/2 - no_errors CCR6 HGNC ENSG00000112486 67 0 0 65 14 17.7215 UNC93A 0 genome.wustl.edu 37 6 167705026 167705026 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 167705026 167705026 C T SNP UNC93A ENST00000230256 human ensembl 74_37 +1 known missense c.49 p.L17F 0.999 pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 84 0 0 82 29 26.1261 KIF25 0 genome.wustl.edu 37 6 168445554 168445554 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 168445554 168445554 A G SNP KIF25 ENST00000354419 human ensembl 74_37 +1 known missense c.1033 p.R345G 0.454 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF25 HGNC ENSG00000125337 129 0 0 110 31 21.9858 HIST1H1T 0 genome.wustl.edu 37 6 26108110 26108110 + Missense_Mutation SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 26108110 26108110 G C SNP HIST1H1T ENST00000338379 human ensembl 74_37 -1 known missense c.212 p.A71G 0.997 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1T HGNC ENSG00000187475 101 0 0 78 19 19.5876 HIST1H2BH 0 genome.wustl.edu 37 6 26252092 26252092 + Missense_Mutation SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 26252092 26252092 G C SNP HIST1H2BH ENST00000356350 human ensembl 74_37 +1 known missense c.214 p.E72Q 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BH HGNC ENSG00000197459 155 0 0 163 31 15.9794 SERPINB9 0 genome.wustl.edu 37 6 2893766 2893766 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 2893766 2893766 G A SNP SERPINB9 ENST00000380698 human ensembl 74_37 -1 known missense c.446 p.P149L 0.058 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB9 HGNC ENSG00000170542 73 0 0 58 21 26.5823 LTB 0 genome.wustl.edu 37 6 31548543 31548543 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 31548543 31548543 G A SNP LTB ENST00000429299 human ensembl 74_37 -1 known silent c.678 p.P226 0.159 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF_C pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF_C,prints_TNF - no_errors LTB HGNC ENSG00000227507 50 0 0 52 28 35 PRRC2A 0 genome.wustl.edu 37 6 31600240 31600240 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 31600240 31600240 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.3790 p.R1264W 0.304 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 118 0 0 99 18 15.3846 MSH5 0 genome.wustl.edu 37 6 31726367 31726367 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 31726367 31726367 C A SNP MSH5 ENST00000375742 human ensembl 74_37 +1 known missense c.1237 p.L413I 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH5 HGNC ENSG00000204410 43 0 0 65 9 12.1622 SLC44A4 0 genome.wustl.edu 37 6 31832446 31832446 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 31832446 31832446 G A SNP SLC44A4 ENST00000229729 human ensembl 74_37 -1 known missense c.1994 p.T665M 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 148 0 0 143 26 15.3846 TNXB 0 genome.wustl.edu 37 6 32039875 32039875 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 32039875 32039875 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.4882 p.R1628W 0.388 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 35 0 0 29 10 25.641 TNXB 0 genome.wustl.edu 37 6 32063932 32063932 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 32063932 32063932 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.1698 p.R566 0.738 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 19 0 0 11 3 21.4286 VPS52 0 genome.wustl.edu 37 6 33236965 33236965 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 33236965 33236965 C T SNP VPS52 ENST00000445902 human ensembl 74_37 -1 known missense c.374 p.R125Q 1.000 pfam_Vps52,pfam_Exocyst_Exoc1/SEC3 pfam_Vps52,pfam_Exocyst_Exoc1/SEC3 - no_errors VPS52 HGNC ENSG00000223501 114 0 0 96 33 25.5814 DAXX 0 genome.wustl.edu 37 6 33288873 33288873 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 33288873 33288873 G A SNP DAXX ENST00000266000 human ensembl 74_37 -1 known missense c.679 p.R227W 0.994 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC ENSG00000204209 47 0 0 48 17 26.1538 GRM4 0 genome.wustl.edu 37 6 34026814 34026814 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 34026814 34026814 G A SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known silent c.964 p.L322 0.992 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 39 0 0 24 7 22.5806 TCP11 0 genome.wustl.edu 37 6 35088325 35088325 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 35088325 35088325 C T SNP TCP11 ENST00000311875 human ensembl 74_37 -1 known missense c.853 p.A285T 0.000 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11 HGNC ENSG00000124678 70 0 0 69 24 25.8065 TEAD3 0 genome.wustl.edu 37 6 35443790 35443790 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 35443790 35443790 C T SNP TEAD3 ENST00000402886 human ensembl 74_37 -1 novel missense c.626 p.R209H 0.999 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,pirsf_TEF - no_errors TEAD3 HGNC ENSG00000007866 51 0 0 34 6 15 ARMC12 0 genome.wustl.edu 37 6 35716490 35716490 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 35716490 35716490 G A SNP ARMC12 ENST00000288065 human ensembl 74_37 +1 known missense c.947 p.R316Q 0.992 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC12 HGNC ENSG00000157343 91 0 0 86 33 27.7311 TMEM217 0 genome.wustl.edu 37 6 37186304 37186304 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 37186304 37186304 C T SNP TMEM217 ENST00000336655 human ensembl 74_37 -1 known missense c.503 p.R168Q 0.123 NULL NULL - no_errors TMEM217 HGNC ENSG00000172738 134 0 0 142 33 18.8571 BTBD9 0 genome.wustl.edu 37 6 38160322 38160322 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 38160322 38160322 G A SNP BTBD9 ENST00000403056 human ensembl 74_37 -1 known silent c.1614 p.I538 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC ENSG00000183826 25 0 0 22 4 15.3846 BTBD9 0 genome.wustl.edu 37 6 38565837 38565837 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 38565837 38565837 C T SNP BTBD9 ENST00000403056 human ensembl 74_37 -1 known missense c.34 p.A12T 1.000 superfamily_BTB/POZ_fold pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC ENSG00000183826 58 0 0 87 7 7.44681 DNAH8 0 genome.wustl.edu 37 6 38952015 38952015 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 38952015 38952015 G A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.12334 p.G4112R 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 68 0 0 67 7 9.45946 IRF4 0 genome.wustl.edu 37 6 398832 398832 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 398832 398832 C T SNP IRF4 ENST00000380956 human ensembl 74_37 +1 known silent c.642 p.C214 1.000 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF4 HGNC ENSG00000137265 24 0 0 23 3 11.5385 TREM2 0 genome.wustl.edu 37 6 41127579 41127579 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 41127579 41127579 C T SNP TREM2 ENST00000373113 human ensembl 74_37 -1 known missense c.433 p.G145R 0.218 NULL pfam_Ig_V-set - no_errors TREM2 HGNC ENSG00000095970 43 0 0 38 7 15.5556 KLC4 0 genome.wustl.edu 37 6 43033372 43033372 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 43033372 43033372 C T SNP KLC4 ENST00000259708 human ensembl 74_37 +1 known silent c.558 p.G186 0.006 pfam_Rabaptin_Rab5-bd_dom pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC4 HGNC ENSG00000137171 51 0 0 35 12 25.5319 KLC4 0 genome.wustl.edu 37 6 43038170 43038170 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 43038170 43038170 C T SNP KLC4 ENST00000259708 human ensembl 74_37 +1 known missense c.1012 p.R338W 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC4 HGNC ENSG00000137171 70 0 0 48 12 20 SRF 0 genome.wustl.edu 37 6 43143531 43143531 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 43143531 43143531 C T SNP SRF ENST00000265354 human ensembl 74_37 +1 known nonsense c.868 p.Q290* 1.000 NULL pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors SRF HGNC ENSG00000112658 152 0 0 115 44 27.673 CUL9 0 genome.wustl.edu 37 6 43153719 43153719 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 43153719 43153719 G A SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known silent c.777 p.L259 1.000 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 60 0 0 47 17 26.5625 ZNF318 0 genome.wustl.edu 37 6 43305585 43305585 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 43305585 43305585 G A SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known missense c.6151 p.P2051S 0.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 49 0 0 66 20 23.2558 ABCC10 0 genome.wustl.edu 37 6 43413620 43413620 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 43413620 43413620 G A SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known missense c.3314 p.S1105N 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 73 0 0 60 20 25 YIPF3 0 genome.wustl.edu 37 6 43483693 43483693 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 43483693 43483693 C A SNP YIPF3 ENST00000372422 human ensembl 74_37 -1 known missense c.222 p.E74D 0.003 NULL NULL - no_errors YIPF3 HGNC ENSG00000137207 121 0 0 162 26 13.8298 ENPP4 0 genome.wustl.edu 37 6 46111164 46111164 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 46111164 46111164 T C SNP ENPP4 ENST00000321037 human ensembl 74_37 +1 known silent c.1149 p.H383 0.935 NULL pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ENPP4 HGNC ENSG00000001561 76 0 0 81 26 24.2991 GPR110 0 genome.wustl.edu 37 6 46979907 46979907 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 46979907 46979907 C T SNP GPR110 ENST00000371253 human ensembl 74_37 -1 known missense c.952 p.A318T 0.000 NULL pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC ENSG00000153292 106 0 0 111 36 24.4898 PAQR8 0 genome.wustl.edu 37 6 52268754 52268754 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 52268754 52268754 A C SNP PAQR8 ENST00000360726 human ensembl 74_37 +1 known missense c.743 p.H248P 1.000 pfam_HlyIII-related pfam_HlyIII-related,superfamily_C-type_lectin_fold - no_errors PAQR8 HGNC ENSG00000170915 52 0 0 63 20 24.0964 KLHL31 0 genome.wustl.edu 37 6 53519206 53519206 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 53519206 53519206 C T SNP KLHL31 ENST00000370905 human ensembl 74_37 -1 known missense c.865 p.V289I 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL31 HGNC ENSG00000124743 168 0 0 184 51 21.7021 LRRC1 0 genome.wustl.edu 37 6 53660207 53660207 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 53660207 53660207 G A SNP LRRC1 ENST00000370888 human ensembl 74_37 +1 known silent c.153 p.L51 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC ENSG00000137269 18 0 0 29 9 23.6842 COL21A1 0 genome.wustl.edu 37 6 55925689 55925689 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 55925689 55925689 G A SNP COL21A1 ENST00000244728 human ensembl 74_37 -1 known silent c.2352 p.P784 0.321 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 34 0 0 37 10 21.2766 PHF3 0 genome.wustl.edu 37 6 64421175 64421175 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 64421175 64421175 T C SNP PHF3 ENST00000262043 human ensembl 74_37 +1 known missense c.3914 p.M1305T 1.000 pfam_SPOC_C pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 30 0 0 45 13 22.4138 COL19A1 0 genome.wustl.edu 37 6 70840095 70840095 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 70840095 70840095 G A SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.1363 p.G455R 0.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 40 0 0 23 8 25.8065 FAM135A 0 genome.wustl.edu 37 6 71245977 71245977 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 71245977 71245977 C T SNP FAM135A ENST00000418814 human ensembl 74_37 +1 known missense c.3980 p.S1327L 1.000 pfam_DUF676_lipase-like,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 53 0 0 81 7 7.95455 KHDC3L 0 genome.wustl.edu 37 6 74072894 74072894 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 74072894 74072894 C T SNP KHDC3L ENST00000370367 human ensembl 74_37 +1 known silent c.246 p.N82 0.000 NULL NULL - no_errors KHDC3L HGNC ENSG00000203908 146 0 0 127 28 18.0645 OOEP 0 genome.wustl.edu 37 6 74078982 74078982 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 74078982 74078982 A G SNP OOEP ENST00000370359 human ensembl 74_37 -1 known missense c.317 p.V106A 0.023 NULL NULL - no_errors OOEP HGNC ENSG00000203907 54 0 0 45 9 16.6667 COL12A1 0 genome.wustl.edu 37 6 75855072 75855072 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 75855072 75855072 T C SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.4660 p.S1554G 0.997 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 25 0 0 22 7 24.1379 IRAK1BP1 0 genome.wustl.edu 37 6 79607813 79607813 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 79607813 79607813 C T SNP IRAK1BP1 ENST00000369940 human ensembl 74_37 +1 known missense c.545 p.A182V 0.995 pfam_DUF541 pfam_DUF541 - no_errors IRAK1BP1 HGNC ENSG00000146243 55 0 0 60 22 26.8293 UBE3D 0 genome.wustl.edu 37 6 83667136 83667136 + Silent SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 83667136 83667136 G C SNP UBE3D ENST00000369747 human ensembl 74_37 -1 known silent c.1044 p.V348 0.982 pfam_UBQ-conj_enz_E2-bd_prot pfam_UBQ-conj_enz_E2-bd_prot - no_errors UBE3D HGNC ENSG00000118420 52 0 0 65 19 22.619 CASP8AP2 0 genome.wustl.edu 37 6 90572377 90572377 + RNA SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 90572377 90572377 C T SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors CASP8AP2 HGNC ENSG00000118412 132 0 0 133 33 19.8795 COQ3 0 genome.wustl.edu 37 6 99824049 99824049 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 99824049 99824049 G A SNP COQ3 ENST00000254759 human ensembl 74_37 -1 known missense c.496 p.R166W 0.995 pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase - no_errors COQ3 HGNC ENSG00000132423 61 0 0 44 17 27.8689 MOSPD3 0 genome.wustl.edu 37 7 100212648 100212648 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 100212648 100212648 G A SNP MOSPD3 ENST00000223054 human ensembl 74_37 +1 known missense c.670 p.V224I 0.388 NULL pfam_MSP_dom,superfamily_PapD-like,pfscan_MSP_dom - no_errors MOSPD3 HGNC ENSG00000106330 153 0 0 149 48 24.3655 ZAN 0 genome.wustl.edu 37 7 100361705 100361705 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 100361705 100361705 A G SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.4153 p.M1385V 0.997 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 70 0 0 50 11 18.0328 SRRT 0 genome.wustl.edu 37 7 100479717 100479717 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 100479717 100479717 G A SNP SRRT ENST00000388793 human ensembl 74_37 +1 known missense c.442 p.V148M 0.534 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 107 0 0 108 28 20.5882 SRRT 0 genome.wustl.edu 37 7 100481743 100481743 + Missense_Mutation SNP C C G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 100481743 100481743 C G SNP SRRT ENST00000388793 human ensembl 74_37 +1 known missense c.640 p.R214G 1.000 pfam_DUF3546 pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 106 0 0 90 20 18.1818 RELN 0 genome.wustl.edu 37 7 103393639 103393639 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 103393639 103393639 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known silent c.567 p.H189 0.942 pfscan_Reeler_dom pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 81 0 0 88 22 20 CBLL1 0 genome.wustl.edu 37 7 107393922 107393922 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 107393922 107393922 G A SNP CBLL1 ENST00000440859 human ensembl 74_37 +1 known missense c.248 p.R83Q 1.000 NULL pfscan_Znf_RING - no_errors CBLL1 HGNC ENSG00000105879 51 0 0 49 11 18.3333 LAMB4 0 genome.wustl.edu 37 7 107688477 107688477 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 107688477 107688477 C A SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.4202 p.R1401M 0.001 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 92 0 0 91 6 6.18557 NRCAM 0 genome.wustl.edu 37 7 107832204 107832204 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 107832204 107832204 G A SNP NRCAM ENST00000379028 human ensembl 74_37 -1 known silent c.1872 p.S624 0.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NRCAM HGNC ENSG00000091129 44 0 0 45 8 15.0943 GPR37 0 genome.wustl.edu 37 7 124387219 124387219 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 124387219 124387219 C T SNP GPR37 ENST00000303921 human ensembl 74_37 -1 known missense c.1202 p.R401H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 91 0 0 84 22 20.7547 GCC1 0 genome.wustl.edu 37 7 127222640 127222640 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 127222640 127222640 G A SNP GCC1 ENST00000321407 human ensembl 74_37 -1 known missense c.1756 p.H586Y 1.000 NULL pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 65 0 0 66 24 26.6667 IRF5 0 genome.wustl.edu 37 7 128588125 128588125 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 128588125 128588125 T C SNP IRF5 ENST00000357234 human ensembl 74_37 +1 known missense c.1130 p.I377T 1.000 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF5 HGNC ENSG00000128604 127 0 0 105 27 20.4545 TMEM209 0 genome.wustl.edu 37 7 129815400 129815400 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 129815400 129815400 G A SNP TMEM209 ENST00000397622 human ensembl 74_37 -1 known silent c.1296 p.G432 0.126 pfam_Cytochrome_B561-rel pfam_Cytochrome_B561-rel - no_errors TMEM209 HGNC ENSG00000146842 27 0 0 17 5 22.7273 EXOC4 0 genome.wustl.edu 37 7 132959816 132959816 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 132959816 132959816 C T SNP EXOC4 ENST00000253861 human ensembl 74_37 +1 known missense c.166 p.R56C 1.000 pfam_Sec8_exocyst pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 73 0 0 68 7 9.33333 BRAF 0 genome.wustl.edu 37 7 140476857 140476857 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 140476857 140476857 T C SNP BRAF ENST00000288602 human ensembl 74_37 -1 known missense c.1549 p.M517V 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 37 0 0 58 15 20.5479 CUL1 0 genome.wustl.edu 37 7 148454074 148454074 + Splice_Site SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 148454074 148454074 G T SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known splice_site c.316-1 e3-1 1.000 - - - no_errors CUL1 HGNC ENSG00000055130 70 0 0 71 13 15.4762 GIMAP2 0 genome.wustl.edu 37 7 150390073 150390073 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 150390073 150390073 T C SNP GIMAP2 ENST00000223293 human ensembl 74_37 +1 known silent c.699 p.D233 0.000 NULL pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP2 HGNC ENSG00000106560 69 0 0 59 14 19.1781 ABCB8 0 genome.wustl.edu 37 7 150730959 150730959 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 150730959 150730959 G A SNP ABCB8 ENST00000297504 human ensembl 74_37 +1 known nonsense c.414 p.W138* 1.000 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB8 HGNC ENSG00000197150 73 0 0 50 11 18.0328 SLC4A2 0 genome.wustl.edu 37 7 150772569 150772569 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 150772569 150772569 C T SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known missense c.3275 p.T1092M 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 176 0 0 198 34 14.6552 FASTK 0 genome.wustl.edu 37 7 150776817 150776817 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 150776817 150776817 G A SNP FASTK ENST00000297532 human ensembl 74_37 -1 known missense c.275 p.A92V 0.999 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC ENSG00000164896 19 0 0 13 4 23.5294 INTS1 0 genome.wustl.edu 37 7 1512732 1512732 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 1512732 1512732 G A SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known nonsense c.6658 p.R2220* 0.354 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 25 0 0 29 6 17.1429 HTR5A 0 genome.wustl.edu 37 7 154863038 154863038 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 154863038 154863038 C A SNP HTR5A ENST00000287907 human ensembl 74_37 +1 known silent c.429 p.I143 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 60 0 0 60 9 13.0435 ITGB8 0 genome.wustl.edu 37 7 20444334 20444334 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 20444334 20444334 C T SNP ITGB8 ENST00000222573 human ensembl 74_37 +1 known nonsense c.1771 p.Q591* 0.999 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 32 0 0 46 5 9.80392 DFNA5 0 genome.wustl.edu 37 7 24758713 24758713 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 24758713 24758713 C T SNP DFNA5 ENST00000342947 human ensembl 74_37 -1 known missense c.529 p.E177K 0.958 pfam_Gasdermin pfam_Gasdermin - no_errors DFNA5 HGNC ENSG00000105928 126 0 0 132 41 23.6994 HNRNPA2B1 0 genome.wustl.edu 37 7 26233316 26233316 + Splice_Site SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 26233316 26233316 T C SNP HNRNPA2B1 ENST00000354667 human ensembl 74_37 -1 known splice_site c.758-2 e9-2 1.000 - - - no_errors HNRNPA2B1 HGNC ENSG00000122566 71 0 0 70 20 22.2222 HNRNPA2B1 0 genome.wustl.edu 37 7 26235512 26235512 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 26235512 26235512 G A SNP HNRNPA2B1 ENST00000354667 human ensembl 74_37 -1 known missense c.712 p.R238C 1.000 NULL pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA2B1 HGNC ENSG00000122566 70 0 0 67 22 24.7191 HOXA9 0 genome.wustl.edu 37 7 27204711 27204711 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 27204711 27204711 C T SNP HOXA9 ENST00000343483 human ensembl 74_37 -1 known silent c.366 p.A122 1.000 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA9 HGNC ENSG00000078399 23 0 0 35 5 12.5 CCDC129 0 genome.wustl.edu 37 7 31683400 31683400 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 31683400 31683400 T G SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known missense c.2494 p.C832G 0.030 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 67 0 0 71 17 19.3182 BBS9 0 genome.wustl.edu 37 7 33192464 33192464 + Splice_Site SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 33192464 33192464 G A SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known splice_site c.263+1 e2+1 1.000 - - - no_errors BBS9 HGNC ENSG00000122507 42 0 0 51 15 22.7273 SDK1 0 genome.wustl.edu 37 7 4050653 4050653 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 4050653 4050653 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.2187 p.T729 0.450 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 47 0 0 45 6 11.7647 SDK1 0 genome.wustl.edu 37 7 4277291 4277291 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 4277291 4277291 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.6005 p.A2002V 0.293 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 116 0 0 98 17 14.7826 POLM 0 genome.wustl.edu 37 7 44114091 44114091 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 44114091 44114091 G A SNP POLM ENST00000242248 human ensembl 74_37 -1 known missense c.874 p.R292W 0.004 smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors POLM HGNC ENSG00000122678 19 0 0 10 3 23.0769 TNS3 0 genome.wustl.edu 37 7 47408333 47408333 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 47408333 47408333 G A SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.1910 p.T637I 0.912 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 125 0 0 108 31 22.3022 TNS3 0 genome.wustl.edu 37 7 47408746 47408746 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 47408746 47408746 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known silent c.1497 p.S499 0.001 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 48 0 0 40 8 16.6667 AP5Z1 0 genome.wustl.edu 37 7 4830368 4830368 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 4830368 4830368 A G SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known missense c.2003 p.N668S 0.998 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 27 0 0 19 10 34.4828 FIGNL1 0 genome.wustl.edu 37 7 50514188 50514188 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 50514188 50514188 A G SNP FIGNL1 ENST00000356889 human ensembl 74_37 -1 known silent c.798 p.I266 0.043 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGNL1 HGNC ENSG00000132436 77 0 0 65 20 23.5294 CYTH3 0 genome.wustl.edu 37 7 6205176 6205176 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 6205176 6205176 G A SNP CYTH3 ENST00000350796 human ensembl 74_37 -1 known silent c.972 p.P324 0.029 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH3 HGNC ENSG00000008256 141 0 0 126 36 22.2222 FAM220A 0 genome.wustl.edu 37 7 6370143 6370143 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 6370143 6370143 G A SNP FAM220A ENST00000313324 human ensembl 74_37 -1 known missense c.643 p.R215C 0.000 NULL NULL - no_errors FAM220A HGNC ENSG00000178397 152 0 0 128 31 19.4969 ZNF273 0 genome.wustl.edu 37 7 64378633 64378633 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 64378633 64378633 C T SNP ZNF273 ENST00000476120 human ensembl 74_37 +1 known silent c.288 p.C96 0.903 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 ZNF273 HGNC ENSG00000198039 132 0 0 135 33 19.6429 KCTD7 0 genome.wustl.edu 37 7 66274218 66274218 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 66274218 66274218 G A SNP KCTD7 ENST00000380828 human ensembl 74_37 +1 known missense c.1543 p.V515I 1.000 NULL pfam_VPS9,pfam_Znf_A20,smart_Znf_A20,smart_VPS9_subgr,pfscan_VPS9,pfscan_Znf_A20 - no_errors KCTD7 HGNC ENSG00000243335 76 0 0 79 22 21.7822 TYW1 0 genome.wustl.edu 37 7 66660160 66660160 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 66660160 66660160 G A SNP TYW1 ENST00000359626 human ensembl 74_37 +1 known missense c.1813 p.V605I 1.000 pfam_tRNA_wybutosine-synth pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1 HGNC ENSG00000198874 71 0 0 82 21 20.3883 AUTS2 0 genome.wustl.edu 37 7 70229866 70229866 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 70229866 70229866 T C SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.1343 p.L448P 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 28 0 0 20 9 31.0345 STAG3L3 0 genome.wustl.edu 37 7 72470023 72470023 + RNA SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 72470023 72470023 C A SNP STAG3L3 ENST00000423834 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors STAG3L3 HGNC ENSG00000174353 223 0 0 223 31 12.2047 MLXIPL 0 genome.wustl.edu 37 7 73008616 73008616 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 73008616 73008616 C T SNP MLXIPL ENST00000313375 human ensembl 74_37 -1 known missense c.2428 p.A810T 0.636 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIPL HGNC ENSG00000009950 114 0 0 85 19 18.2692 WBSCR27 0 genome.wustl.edu 37 7 73249192 73249192 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 73249192 73249192 C T SNP WBSCR27 ENST00000297873 human ensembl 74_37 -1 known missense c.619 p.A207T 0.891 NULL pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase - no_errors WBSCR27 HGNC ENSG00000165171 107 0 0 86 28 24.5614 SEMA3A 0 genome.wustl.edu 37 7 83610721 83610721 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 83610721 83610721 G A SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known missense c.1568 p.A523V 1.000 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 31 0 0 25 9 26.4706 ABCB1 0 genome.wustl.edu 37 7 87179241 87179241 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 87179241 87179241 T C SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.1480 p.N494D 0.158 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 176 0 0 174 62 26.2712 SUN1 0 genome.wustl.edu 37 7 883025 883025 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 883025 883025 G A SNP SUN1 ENST00000456758 human ensembl 74_37 +1 known missense c.700 p.A234T 0.066 pfam_SUN1 pfam_SUN1,pfam_Sad1_UNC_C - no_errors SUN1 HGNC ENSG00000164828 180 0 0 166 63 27.5109 C7orf62 0 genome.wustl.edu 37 7 88424142 88424142 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 88424142 88424142 G A SNP C7orf62 ENST00000297203 human ensembl 74_37 -1 known nonsense c.115 p.R39* 0.991 NULL NULL - no_errors C7orf62 HGNC ENSG00000164645 87 0 0 105 21 16.6667 ZNF804B 0 genome.wustl.edu 37 7 88964514 88964514 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 88964514 88964514 C A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.2218 p.L740I 0.412 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 37 0 0 57 12 17.3913 CDK6 0 genome.wustl.edu 37 7 92300845 92300845 + Missense_Mutation SNP A A T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 92300845 92300845 A T SNP CDK6 ENST00000265734 human ensembl 74_37 -1 known missense c.542 p.V181D 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK6 HGNC ENSG00000105810 45 0 0 49 9 15.5172 TFPI2 0 genome.wustl.edu 37 7 93519534 93519534 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 93519534 93519534 G A SNP TFPI2 ENST00000222543 human ensembl 74_37 -1 known silent c.186 p.R62 0.000 pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI2 HGNC ENSG00000105825 73 0 0 57 27 32.1429 SLC25A13 0 genome.wustl.edu 37 7 95751263 95751263 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 95751263 95751263 C T SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known silent c.1641 p.T547 0.019 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 71 0 0 98 14 12.5 ZNF655 0 genome.wustl.edu 37 7 99159585 99159585 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 99159585 99159585 G A SNP ZNF655 ENST00000320583 human ensembl 74_37 +1 known missense c.211 p.A71T 1.000 superfamily_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF655 HGNC ENSG00000197343 11 0 0 11 6 35.2941 PVRIG 0 genome.wustl.edu 37 7 99818819 99818819 + Missense_Mutation SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 99818819 99818819 T G SNP PVRIG ENST00000317271 human ensembl 74_37 +1 known missense c.926 p.L309R 0.000 NULL NULL - no_errors PVRIG HGNC ENSG00000213413 15 0 0 27 11 28.9474 VPS13B 0 genome.wustl.edu 37 8 100866299 100866299 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 100866299 100866299 G A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.10757 p.R3586Q 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 70 0 0 126 14 10 MSRA 0 genome.wustl.edu 37 8 10102702 10102702 + Silent SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 10102702 10102702 T G SNP MSRA ENST00000317173 human ensembl 74_37 +1 known silent c.300 p.T100 0.003 pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA - no_errors MSRA HGNC ENSG00000175806 92 0 0 139 13 8.55263 FBXO43 0 genome.wustl.edu 37 8 101154342 101154342 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 101154342 101154342 G A SNP FBXO43 ENST00000428847 human ensembl 74_37 -1 known missense c.140 p.A47V 0.031 NULL pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 94 0 0 195 14 6.69856 UBR5 0 genome.wustl.edu 37 8 103307255 103307255 + Missense_Mutation SNP G G C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 103307255 103307255 G C SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.4143 p.D1381E 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 28 0 0 59 15 20.2703 RP1L1 0 genome.wustl.edu 37 8 10480308 10480308 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 10480308 10480308 T C SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.404 p.Q135R 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 50 0 0 63 18 22.2222 LRP12 0 genome.wustl.edu 37 8 105601119 105601119 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 105601119 105601119 A G SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.7 p.C3R 1.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 15 0 0 33 5 13.1579 SOX7 0 genome.wustl.edu 37 8 10583913 10583913 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 10583913 10583913 C T SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known missense c.658 p.G220S 0.000 NULL pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 28 0 0 50 7 12.2807 OXR1 0 genome.wustl.edu 37 8 107719359 107719359 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 107719359 107719359 A C SNP OXR1 ENST00000442977 human ensembl 74_37 +1 known missense c.1613 p.D538A 1.000 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors OXR1 HGNC ENSG00000164830 29 0 0 58 8 12.1212 NUDCD1 0 genome.wustl.edu 37 8 110308669 110308669 + Silent SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 110308669 110308669 T G SNP NUDCD1 ENST00000239690 human ensembl 74_37 -1 known silent c.403 p.R135 0.998 NULL pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDCD1 HGNC ENSG00000120526 169 0 0 266 43 13.9159 EBAG9 0 genome.wustl.edu 37 8 110575763 110575763 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 110575763 110575763 A C SNP EBAG9 ENST00000531677 human ensembl 74_37 +1 novel missense c.659 p.Q220P 0.000 pirsf_Cancer-assoc_antigen_RCAS1 pirsf_Cancer-assoc_antigen_RCAS1 - no_errors EBAG9 HGNC ENSG00000147654 78 0 0 112 24 17.6471 SLC35G5 0 genome.wustl.edu 37 8 11189120 11189120 + Missense_Mutation SNP C C G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 11189120 11189120 C G SNP SLC35G5 ENST00000382435 human ensembl 74_37 +1 known missense c.505 p.L169V 0.932 pfam_DMT pfam_DMT - no_errors SLC35G5 HGNC ENSG00000177710 243 0 0 402 52 11.4537 GATA4 0 genome.wustl.edu 37 8 11614472 11614472 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 11614472 11614472 C T SNP GATA4 ENST00000335135 human ensembl 74_37 +1 known silent c.1026 p.P342 0.201 pirsf_TF_GATA_4/5/6 pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA4 HGNC ENSG00000136574 135 1 0.735294 216 36 14.2857 AARD 0 genome.wustl.edu 37 8 117950599 117950599 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 117950599 117950599 C T SNP AARD ENST00000378279 human ensembl 74_37 +1 known silent c.117 p.D39 0.000 NULL NULL - no_errors AARD HGNC ENSG00000205002 41 0 0 44 10 18.5185 HAS2 0 genome.wustl.edu 37 8 122641122 122641122 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 122641122 122641122 G A SNP HAS2 ENST00000303924 human ensembl 74_37 -1 known silent c.459 p.H153 0.048 NULL pfam_Chitin_synth_fng - no_errors HAS2 HGNC ENSG00000170961 229 0 0 350 66 15.8654 SQLE 0 genome.wustl.edu 37 8 126011845 126011845 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 126011845 126011845 C T SNP SQLE ENST00000265896 human ensembl 74_37 +1 known missense c.200 p.S67L 0.080 NULL pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like - no_errors SQLE HGNC ENSG00000104549 42 0 0 55 5 8.33333 DLC1 0 genome.wustl.edu 37 8 12943849 12943849 + Silent SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 12943849 12943849 G T SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known silent c.4416 p.P1472 1.000 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 100 0 0 153 29 15.9341 ASAP1 0 genome.wustl.edu 37 8 131124415 131124415 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 131124415 131124415 C T SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.2326 p.V776I 0.058 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 93 0 0 150 25 14.2857 ADCY8 0 genome.wustl.edu 37 8 131848544 131848544 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 131848544 131848544 T C SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.2654 p.D885G 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 63 0 0 127 21 14.1892 ADCY8 0 genome.wustl.edu 37 8 131916046 131916046 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 131916046 131916046 G T SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.1883 p.P628H 1.000 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 56 0 0 93 17 15.4545 TG 0 genome.wustl.edu 37 8 133925296 133925296 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 133925296 133925296 A C SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.4164 p.R1388S 0.091 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 27 0 0 50 6 10.7143 WISP1 0 genome.wustl.edu 37 8 134225171 134225171 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 134225171 134225171 G A SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known missense c.134 p.R45H 1.000 pirsf_IGFBP_CNN pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 42 0 0 73 15 17.0455 ZFAT 0 genome.wustl.edu 37 8 135614541 135614541 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 135614541 135614541 C T SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.1421 p.R474H 0.986 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 50 0 0 95 11 10.3774 COL22A1 0 genome.wustl.edu 37 8 139890197 139890197 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 139890197 139890197 C T SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.454 p.G152S 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 10 0 0 32 6 15.7895 TRAPPC9 0 genome.wustl.edu 37 8 141381186 141381186 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 141381186 141381186 C T SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known missense c.1522 p.V508M 0.998 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 69 0 0 109 22 16.7939 AGO2 0 genome.wustl.edu 37 8 141561437 141561437 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 141561437 141561437 G A SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known silent c.1368 p.F456 0.956 NULL 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 AGO2 HGNC ENSG00000123908 128 1 0.775194 237 44 15.6584 GPR20 0 genome.wustl.edu 37 8 142367563 142367563 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 142367563 142367563 C T SNP GPR20 ENST00000377741 human ensembl 74_37 -1 known missense c.461 p.R154Q 0.637 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR20 HGNC ENSG00000204882 36 0 0 34 3 8.10811 BAI1 0 genome.wustl.edu 37 8 143562629 143562629 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 143562629 143562629 C T SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.1843 p.R615W 0.990 smart_GPCR_2_extracellular_dom,prints_GPCR_2_brain-spec_angio_inhib,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 113 0 0 143 21 12.8049 ARC 0 genome.wustl.edu 37 8 143695508 143695508 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 143695508 143695508 A G SNP ARC ENST00000356613 human ensembl 74_37 -1 known missense c.125 p.V42A 0.999 prints_Activity-reg_cytoskelet-assoc prints_Activity-reg_cytoskelet-assoc - no_errors ARC HGNC ENSG00000198576 11 0 0 23 5 17.8571 CYP11B2 0 genome.wustl.edu 37 8 143994862 143994862 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 143994862 143994862 C T SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known silent c.960 p.A320 0.056 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 116 0 0 193 32 14.2222 GLI4 0 genome.wustl.edu 37 8 144358416 144358416 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 144358416 144358416 T C SNP GLI4 ENST00000340042 human ensembl 74_37 +1 known silent c.573 p.S191 0.954 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI4 HGNC ENSG00000250571 24 0 0 20 3 13.0435 TOP1MT 0 genome.wustl.edu 37 8 144403514 144403514 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 144403514 144403514 C T SNP TOP1MT ENST00000329245 human ensembl 74_37 -1 known missense c.1003 p.A335T 0.977 pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1MT HGNC ENSG00000184428 111 0 0 133 36 21.3018 NRBP2 0 genome.wustl.edu 37 8 144921094 144921094 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 144921094 144921094 G A SNP NRBP2 ENST00000442628 human ensembl 74_37 -1 novel silent c.705 p.T235 0.109 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NRBP2 HGNC ENSG00000185189 14 0 0 14 7 33.3333 PARP10 0 genome.wustl.edu 37 8 145058596 145058596 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 145058596 145058596 A G SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known missense c.1462 p.C488R 0.995 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 30 0 0 39 11 22 OPLAH 0 genome.wustl.edu 37 8 145114806 145114806 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 145114806 145114806 C T SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known missense c.130 p.A44T 0.637 pfam_Hydant_A_N pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 67 0 0 81 18 18.1818 DGAT1 0 genome.wustl.edu 37 8 145540261 145540261 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 145540261 145540261 C T SNP DGAT1 ENST00000332324 human ensembl 74_37 -1 known missense c.1423 p.D475N 1.000 NULL pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom - no_errors DGAT1 HGNC ENSG00000185000 25 0 0 29 5 14.7059 TONSL 0 genome.wustl.edu 37 8 145659021 145659021 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 145659021 145659021 C T SNP TONSL ENST00000409379 human ensembl 74_37 -1 known missense c.3509 p.G1170D 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 122 0 0 169 25 12.8866 PPP1R16A 0 genome.wustl.edu 37 8 145724440 145724440 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 145724440 145724440 G A SNP PPP1R16A ENST00000292539 human ensembl 74_37 +1 known missense c.472 p.A158T 0.679 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R16A HGNC ENSG00000160972 49 0 0 72 12 14.2857 LRRC14 0 genome.wustl.edu 37 8 145746819 145746819 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 145746819 145746819 C T SNP LRRC14 ENST00000292524 human ensembl 74_37 +1 known missense c.1439 p.T480M 0.855 NULL NULL - no_errors LRRC14 HGNC ENSG00000160959 55 0 0 70 12 14.6341 ZNF517 0 genome.wustl.edu 37 8 146029117 146029117 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 146029117 146029117 T C SNP ZNF517 ENST00000359971 human ensembl 74_37 +1 known missense c.125 p.V42A 0.998 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 ZNF517 HGNC ENSG00000197363 108 0 0 144 19 11.6564 DLGAP2 0 genome.wustl.edu 37 8 1574920 1574920 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 1574920 1574920 A G SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.1217 p.Q406R 1.000 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 10 0 0 20 4 16.6667 LZTS1 0 genome.wustl.edu 37 8 20107589 20107589 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 20107589 20107589 G A SNP LZTS1 ENST00000265801 human ensembl 74_37 -1 known missense c.1435 p.R479W 1.000 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 108 0 0 157 15 8.72093 HR 0 genome.wustl.edu 37 8 21978733 21978733 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 21978733 21978733 C T SNP HR ENST00000381418 human ensembl 74_37 -1 known missense c.2212 p.D738N 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 155 0 0 291 54 15.6522 PHYHIP 0 genome.wustl.edu 37 8 22079106 22079106 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 22079106 22079106 G A SNP PHYHIP ENST00000454243 human ensembl 74_37 -1 known silent c.753 p.R251 0.060 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIP HGNC ENSG00000168490 28 0 0 55 8 12.6984 PEBP4 0 genome.wustl.edu 37 8 22785141 22785141 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 22785141 22785141 C T SNP PEBP4 ENST00000256404 human ensembl 74_37 -1 known silent c.87 p.P29 0.004 NULL pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP - no_errors PEBP4 HGNC ENSG00000134020 86 0 0 122 17 12.2302 ENTPD4 0 genome.wustl.edu 37 8 23290500 23290500 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 23290500 23290500 G A SNP ENTPD4 ENST00000358689 human ensembl 74_37 -1 known missense c.1790 p.S597L 0.901 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC ENSG00000197217 32 0 0 68 10 12.8205 ADAM28 0 genome.wustl.edu 37 8 24211298 24211298 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 24211298 24211298 G A SNP ADAM28 ENST00000265769 human ensembl 74_37 +1 known missense c.2260 p.A754T 0.004 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 122 0 0 204 29 12.4464 NEFM 0 genome.wustl.edu 37 8 24772270 24772270 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 24772270 24772270 C T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.964 p.R322C 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 24 0 0 41 10 19.6078 DOCK5 0 genome.wustl.edu 37 8 25240289 25240289 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 25240289 25240289 C A SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.4126 p.L1376I 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 21 0 0 23 5 17.8571 SDAD1P1 0 genome.wustl.edu 37 8 26237891 26237891 + RNA SNP T T G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 26237891 26237891 T G SNP SDAD1P1 ENST00000519902 human ensembl 74_37 -1 known rna NULL NULL 0.951 - - - no_errors SDAD1P1 HGNC ENSG00000228451 28 0 0 70 12 14.6341 PNMA2 0 genome.wustl.edu 37 8 26366201 26366201 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 26366201 26366201 G A SNP PNMA2 ENST00000522362 human ensembl 74_37 -1 known missense c.71 p.T24M 0.060 NULL pfam_Retrotrans_gag_dom - no_errors PNMA2 HGNC ENSG00000240694 161 0 0 244 44 15.2778 HMBOX1 0 genome.wustl.edu 37 8 28876278 28876278 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 28876278 28876278 C T SNP HMBOX1 ENST00000444075 human ensembl 74_37 +1 known silent c.699 p.G233 0.998 superfamily_Lambda_DNA-bd_dom pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HMBOX1 HGNC ENSG00000147421 48 0 0 88 17 16.1905 TEX15 0 genome.wustl.edu 37 8 30701328 30701328 + Nonsense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 30701328 30701328 C A SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known nonsense c.5206 p.G1736* 0.980 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 53 0 0 74 8 9.7561 WRN 0 genome.wustl.edu 37 8 30948388 30948388 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 30948388 30948388 T C SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.1759 p.Y587H 0.645 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 98 0 0 182 22 10.7843 PROSC 0 genome.wustl.edu 37 8 37623132 37623132 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 37623132 37623132 G A SNP PROSC ENST00000328195 human ensembl 74_37 +1 known missense c.188 p.R63H 1.000 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 - no_errors PROSC HGNC ENSG00000147471 268 0 0 505 68 11.8674 PPAPDC1B 0 genome.wustl.edu 37 8 38124842 38124842 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 38124842 38124842 C A SNP PPAPDC1B ENST00000424479 human ensembl 74_37 -1 known missense c.406 p.G136W 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC1B HGNC ENSG00000147535 82 0 0 134 29 17.7914 TM2D2 0 genome.wustl.edu 37 8 38853953 38853953 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 38853953 38853953 C T SNP TM2D2 ENST00000456397 human ensembl 74_37 -1 known silent c.6 p.V2 1.000 NULL pfam_TM2 - no_errors TM2D2 HGNC ENSG00000169490 66 0 0 103 22 17.6 ADAM2 0 genome.wustl.edu 37 8 39613417 39613417 + Nonsense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 39613417 39613417 C A SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known nonsense c.1627 p.G543* 1.000 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 44 0 0 80 11 12.0879 ADAM2 0 genome.wustl.edu 37 8 39694686 39694686 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 39694686 39694686 C T SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known missense c.101 p.R34Q 0.018 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 37 0 0 68 8 10.5263 ANK1 0 genome.wustl.edu 37 8 41561977 41561977 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 41561977 41561977 G T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.2111 p.P704H 0.999 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 47 0 0 74 5 6.32911 ANK1 0 genome.wustl.edu 37 8 41571752 41571752 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 41571752 41571752 G A SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known silent c.1722 p.H574 0.987 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 37 0 0 48 14 22.5806 ANK1 0 genome.wustl.edu 37 8 41583322 41583322 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 41583322 41583322 G A SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.569 p.A190V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 25 0 0 47 8 14.5455 SLC20A2 0 genome.wustl.edu 37 8 42275486 42275486 + Splice_Site SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 42275486 42275486 C A SNP SLC20A2 ENST00000342228 human ensembl 74_37 -1 known splice_site c.1795-1 e10-1 1.000 - - - no_errors SLC20A2 HGNC ENSG00000168575 64 0 0 85 16 15.8416 PRKDC 0 genome.wustl.edu 37 8 48746805 48746805 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 48746805 48746805 T C SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.8101 p.K2701E 0.000 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 PRKDC HGNC ENSG00000253729 348 0 0 554 88 13.7072 PRKDC 0 genome.wustl.edu 37 8 48749058 48749058 + Nonsense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 48749058 48749058 G A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known nonsense c.7789 p.R2597* 0.996 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 PRKDC HGNC ENSG00000253729 10 0 0 10 4 28.5714 SNAI2 0 genome.wustl.edu 37 8 49831372 49831372 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 49831372 49831372 T C SNP SNAI2 ENST00000020945 human ensembl 74_37 -1 known silent c.801 p.A267 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 81 0 0 138 24 14.8148 OPRK1 0 genome.wustl.edu 37 8 54163395 54163395 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 54163395 54163395 A G SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known missense c.203 p.V68A 1.000 prints_GPCR_Rhodpsn,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 45 0 0 80 9 10.1124 RP1 0 genome.wustl.edu 37 8 55534032 55534032 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 55534032 55534032 C T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.506 p.A169V 0.000 smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 146 0 0 265 35 11.6667 XKR4 0 genome.wustl.edu 37 8 56015841 56015841 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 56015841 56015841 G T SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.793 p.G265W 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 79 0 0 101 13 11.4035 PENK 0 genome.wustl.edu 37 8 57358293 57358293 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 57358293 57358293 C T SNP PENK ENST00000518770 human ensembl 74_37 -1 putative missense c.220 p.A74T 0.000 NULL pfam_Opioid_neupept,prints_Proenkphlin_A - no_errors PENK HGNC ENSG00000181195 38 0 0 58 20 25.641 TOX 0 genome.wustl.edu 37 8 59750732 59750732 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 59750732 59750732 C T SNP TOX ENST00000361421 human ensembl 74_37 -1 known missense c.832 p.A278T 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX HGNC ENSG00000198846 113 0 0 180 28 13.4615 ASPH 0 genome.wustl.edu 37 8 62430100 62430100 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 62430100 62430100 C T SNP ASPH ENST00000379454 human ensembl 74_37 -1 known missense c.2113 p.A705T 1.000 pfam_Asp_Arg_b-Hydrxlase pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 76 0 0 115 13 10.1562 ARFGEF1 0 genome.wustl.edu 37 8 68179369 68179369 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 68179369 68179369 G A SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.1769 p.A590V 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 47 0 0 100 17 14.5299 SLCO5A1 0 genome.wustl.edu 37 8 70591817 70591817 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 70591817 70591817 C T SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.1820 p.R607H 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 128 0 0 219 38 14.786 KCNB2 0 genome.wustl.edu 37 8 73480224 73480224 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 73480224 73480224 C T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known silent c.255 p.N85 0.353 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv8 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 83 0 0 113 14 11.0236 JPH1 0 genome.wustl.edu 37 8 75227768 75227768 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 75227768 75227768 C T SNP JPH1 ENST00000342232 human ensembl 74_37 -1 known missense c.467 p.R156H 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC ENSG00000104369 27 0 0 47 9 16.0714 SGK223 0 genome.wustl.edu 37 8 8185621 8185621 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 8185621 8185621 G A SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.2671 p.L891F 0.967 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 241 0 0 431 37 7.90598 RIPK2 0 genome.wustl.edu 37 8 90782083 90782083 + Silent SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 90782083 90782083 A C SNP RIPK2 ENST00000220751 human ensembl 74_37 +1 known silent c.567 p.T189 0.884 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 134 0 0 269 48 15.142 RUNX1T1 0 genome.wustl.edu 37 8 92998450 92998450 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 92998450 92998450 C T SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known missense c.1214 p.R405Q 1.000 pfam_NHR2 pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 113 0 0 167 27 13.9175 NDUFAF6 0 genome.wustl.edu 37 8 96044227 96044227 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 96044227 96044227 C T SNP NDUFAF6 ENST00000396124 human ensembl 74_37 +1 known missense c.202 p.R68W 1.000 pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth - no_errors NDUFAF6 HGNC ENSG00000156170 74 0 0 113 24 17.5182 NDUFAF6 0 genome.wustl.edu 37 8 96053842 96053842 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 96053842 96053842 C T SNP NDUFAF6 ENST00000396124 human ensembl 74_37 +1 known silent c.465 p.I155 0.998 pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth - no_errors NDUFAF6 HGNC ENSG00000156170 52 0 0 95 14 12.844 GDF6 0 genome.wustl.edu 37 8 97157659 97157659 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 97157659 97157659 C T SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known missense c.500 p.R167Q 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 29 0 0 39 5 11.3636 CPQ 0 genome.wustl.edu 37 8 97797388 97797388 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 97797388 97797388 T C SNP CPQ ENST00000220763 human ensembl 74_37 +1 known missense c.263 p.I88T 1.000 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 67 0 0 96 15 13.5135 TSPYL5 0 genome.wustl.edu 37 8 98288830 98288830 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 98288830 98288830 G T SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known missense c.1243 p.Q415K 0.001 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 172 0 0 299 50 14.3266 TSPYL5 0 genome.wustl.edu 37 8 98289556 98289556 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 98289556 98289556 C T SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known missense c.517 p.A173T 0.000 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 165 0 0 273 49 15.2174 NIPAL2 0 genome.wustl.edu 37 8 99248383 99248383 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 99248383 99248383 C T SNP NIPAL2 ENST00000341166 human ensembl 74_37 -1 known missense c.436 p.G146S 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL2 HGNC ENSG00000104361 22 0 0 56 9 13.8462 NCBP1 0 genome.wustl.edu 37 9 100412837 100412837 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 100412837 100412837 A G SNP NCBP1 ENST00000375147 human ensembl 74_37 +1 known missense c.950 p.N317S 1.000 superfamily_ARM-type_fold pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors NCBP1 HGNC ENSG00000136937 63 0 0 89 21 19.0909 LPPR1 0 genome.wustl.edu 37 9 104075142 104075142 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 104075142 104075142 C T SNP LPPR1 ENST00000374874 human ensembl 74_37 +1 known silent c.699 p.L233 0.997 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR1 Uniprot_gn ENSG00000148123 102 0 0 130 38 22.619 OR13C8 0 genome.wustl.edu 37 9 107331745 107331745 + Silent SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 107331745 107331745 G T SNP OR13C8 ENST00000335040 human ensembl 74_37 +1 known silent c.297 p.V99 0.447 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 OR13C8 HGNC ENSG00000186943 90 0 0 108 32 22.8571 EPB41L4B 0 genome.wustl.edu 37 9 111979202 111979202 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 111979202 111979202 T C SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known missense c.1633 p.K545E 0.959 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4B HGNC ENSG00000095203 194 0 0 173 43 19.9074 PAPPA 0 genome.wustl.edu 37 9 118974016 118974016 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 118974016 118974016 C T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known nonsense c.1723 p.R575* 1.000 pfam_Peptidase_M43 pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 117 0 0 92 23 20 ASTN2 0 genome.wustl.edu 37 9 119495739 119495739 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 119495739 119495739 C T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known silent c.2460 p.P820 0.936 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 137 0 0 123 18 12.766 PDCL 0 genome.wustl.edu 37 9 125582668 125582668 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 125582668 125582668 C T SNP PDCL ENST00000259467 human ensembl 74_37 -1 known missense c.602 p.C201Y 1.000 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin - no_errors PDCL HGNC ENSG00000136940 57 0 0 53 13 19.697 OLFML2A 0 genome.wustl.edu 37 9 127549310 127549310 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 127549310 127549310 C T SNP OLFML2A ENST00000373580 human ensembl 74_37 +1 known silent c.147 p.C49 1.000 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 134 0 0 124 17 12.0567 ZBTB34 0 genome.wustl.edu 37 9 129642864 129642864 + Nonsense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 129642864 129642864 C T SNP ZBTB34 ENST00000319119 human ensembl 74_37 +1 known nonsense c.1186 p.R396* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB34 HGNC ENSG00000177125 44 0 0 39 17 30.3571 LAMC3 0 genome.wustl.edu 37 9 133901754 133901754 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 133901754 133901754 C T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known silent c.456 p.R152 0.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 82 0 0 87 15 14.7059 RAPGEF1 0 genome.wustl.edu 37 9 134501554 134501554 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 134501554 134501554 G A SNP RAPGEF1 ENST00000372190 human ensembl 74_37 -1 known missense c.1460 p.A487V 0.957 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 35 0 0 41 11 21.1538 SETX 0 genome.wustl.edu 37 9 135203684 135203684 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 135203684 135203684 T C SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.3301 p.N1101D 0.003 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 58 0 0 64 14 17.9487 BARHL1 0 genome.wustl.edu 37 9 135458535 135458535 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 135458535 135458535 C T SNP BARHL1 ENST00000263610 human ensembl 74_37 +1 known silent c.351 p.S117 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors BARHL1 HGNC ENSG00000125492 168 0 0 147 29 16.4773 GFI1B 0 genome.wustl.edu 37 9 135863633 135863633 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 135863633 135863633 C T SNP GFI1B ENST00000339463 human ensembl 74_37 +1 known silent c.288 p.S96 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1B HGNC ENSG00000165702 98 0 0 83 22 20.9524 SURF6 0 genome.wustl.edu 37 9 136199145 136199145 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 136199145 136199145 G A SNP SURF6 ENST00000372022 human ensembl 74_37 -1 known missense c.646 p.R216C 0.965 pfam_Surf6 pfam_Surf6 - no_errors SURF6 HGNC ENSG00000148296 70 0 0 81 20 19.802 TMEM8C 0 genome.wustl.edu 37 9 136385357 136385357 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 136385357 136385357 G A SNP TMEM8C ENST00000339996 human ensembl 74_37 -1 known silent c.189 p.H63 0.272 pfam_DUF3522 pfam_DUF3522 - no_errors TMEM8C HGNC ENSG00000187616 76 0 0 78 13 14.2857 PMPCA 0 genome.wustl.edu 37 9 139317614 139317614 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 139317614 139317614 C T SNP PMPCA ENST00000371717 human ensembl 74_37 +1 known silent c.1476 p.A492 0.364 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors PMPCA HGNC ENSG00000165688 39 0 0 45 13 22.4138 ABCA2 0 genome.wustl.edu 37 9 139908407 139908407 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 139908407 139908407 C T SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.4324 p.G1442R 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 39 0 0 37 12 24.4898 ABCA2 0 genome.wustl.edu 37 9 139911757 139911757 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 139911757 139911757 G A SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.2444 p.S815L 0.998 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 67 0 0 54 24 30.7692 GRIN1 0 genome.wustl.edu 37 9 140058244 140058244 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 140058244 140058244 C T SNP GRIN1 ENST00000371561 human ensembl 74_37 +1 known missense c.2477 p.A826V 0.999 prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC ENSG00000176884 111 0 0 68 21 23.5955 FAM166A 0 genome.wustl.edu 37 9 140139877 140139877 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 140139877 140139877 G A SNP FAM166A ENST00000344774 human ensembl 74_37 -1 known missense c.404 p.P135L 0.047 NULL pfam_UPF0573/UPF0605 - no_errors FAM166A HGNC ENSG00000188163 151 0 0 100 29 22.4806 EHMT1 0 genome.wustl.edu 37 9 140695337 140695337 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 140695337 140695337 C T SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known silent c.2613 p.D871 0.998 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 37 0 0 35 11 23.913 ADAMTSL1 0 genome.wustl.edu 37 9 18574056 18574056 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 18574056 18574056 G A SNP ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known missense c.266 p.R89Q 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 85 0 0 96 35 26.7176 DENND4C 0 genome.wustl.edu 37 9 19346176 19346176 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 19346176 19346176 A G SNP DENND4C ENST00000602925 human ensembl 74_37 +1 known missense c.3262 p.K1088E 0.989 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 110 0 0 152 42 21.6495 TEK 0 genome.wustl.edu 37 9 27190596 27190596 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 27190596 27190596 G T SNP TEK ENST00000380036 human ensembl 74_37 +1 known missense c.1397 p.S466I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 186 0 0 163 41 20.098 LINGO2 0 genome.wustl.edu 37 9 27949047 27949047 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 27949047 27949047 T C SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.1623 p.I541M 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 104 0 0 94 25 21.0084 ACO1 0 genome.wustl.edu 37 9 32427423 32427423 + Silent SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 32427423 32427423 G T SNP ACO1 ENST00000309951 human ensembl 74_37 +1 known silent c.1473 p.L491 0.975 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors ACO1 HGNC ENSG00000122729 111 0 0 91 29 24.1667 DDX58 0 genome.wustl.edu 37 9 32488795 32488795 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 32488795 32488795 G A SNP DDX58 ENST00000379883 human ensembl 74_37 -1 known missense c.890 p.A297V 0.898 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 37 0 0 36 8 18.1818 CHMP5 0 genome.wustl.edu 37 9 33280824 33280824 + Nonstop_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 33280824 33280824 T C SNP CHMP5 ENST00000419016 human ensembl 74_37 +1 known nonstop c.514 p.*172R 1.000 NULL pfam_Snf7 - no_errors CHMP5 HGNC ENSG00000086065 46 0 0 78 23 22.7723 UNC13B 0 genome.wustl.edu 37 9 35404014 35404014 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 35404014 35404014 C T SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.4817 p.T1606M 0.001 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 45 0 0 40 6 13.0435 EXOSC3 0 genome.wustl.edu 37 9 37780704 37780704 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 37780704 37780704 T C SNP EXOSC3 ENST00000327304 human ensembl 74_37 -1 known missense c.800 p.Q267R 0.998 NULL NULL - no_errors EXOSC3 HGNC ENSG00000107371 62 0 0 69 24 25.8065 DCAF10 0 genome.wustl.edu 37 9 37861380 37861380 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 37861380 37861380 C T SNP DCAF10 ENST00000377724 human ensembl 74_37 +1 known missense c.1555 p.R519W 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF10 HGNC ENSG00000122741 84 0 0 79 18 18.5567 UHRF2 0 genome.wustl.edu 37 9 6434147 6434147 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 6434147 6434147 C T SNP UHRF2 ENST00000276893 human ensembl 74_37 +1 known silent c.618 p.D206 1.000 pfam_DUF3590 pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin_dom,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors UHRF2 HGNC ENSG00000147854 35 0 0 42 7 14.2857 MAMDC2 0 genome.wustl.edu 37 9 72723268 72723268 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 72723268 72723268 C A SNP MAMDC2 ENST00000377182 human ensembl 74_37 +1 known missense c.290 p.P97H 0.996 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors MAMDC2 HGNC ENSG00000165072 43 0 0 46 14 23.3333 PSAT1 0 genome.wustl.edu 37 9 80932598 80932598 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 80932598 80932598 C T SNP PSAT1 ENST00000376588 human ensembl 74_37 +1 known silent c.747 p.Y249 0.920 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr - no_errors PSAT1 HGNC ENSG00000135069 153 1 0.649351 160 32 16.6667 NXNL2 0 genome.wustl.edu 37 9 91150510 91150510 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 91150510 91150510 C T SNP NXNL2 ENST00000375854 human ensembl 74_37 +1 known missense c.161 p.A54V 1.000 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors NXNL2 HGNC ENSG00000130045 30 0 0 37 7 15.9091 FGD3 0 genome.wustl.edu 37 9 95782638 95782638 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 95782638 95782638 G A SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known missense c.1426 p.E476K 1.000 superfamily_Znf_FYVE_PHD pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 44 0 0 31 12 27.907 CTSV 0 genome.wustl.edu 37 9 99797855 99797855 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 99797855 99797855 C T SNP CTSV ENST00000259470 human ensembl 74_37 -1 known missense c.742 p.V248I 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSV HGNC ENSG00000136943 51 0 0 39 10 20.4082 RPL36A 0 genome.wustl.edu 37 X 100645994 100645994 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 100645994 100645994 G A SNP RPL36A ENST00000427805 human ensembl 74_37 +1 known missense c.71 p.R24Q 0.000 NULL pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd - no_errors RPL36A HGNC ENSG00000241343 81 0 0 80 24 23.0769 ARMCX2 0 genome.wustl.edu 37 X 100911496 100911496 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 100911496 100911496 C A SNP ARMCX2 ENST00000328766 human ensembl 74_37 -1 known missense c.1079 p.R360L 0.546 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ENSG00000184867 69 0 0 88 26 22.807 GPRASP1 0 genome.wustl.edu 37 X 101910953 101910953 + Silent SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 101910953 101910953 C A SNP GPRASP1 ENST00000361600 human ensembl 74_37 +1 known silent c.2112 p.V704 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 153 0 0 169 37 17.9612 CXorf57 0 genome.wustl.edu 37 X 105876387 105876387 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 105876387 105876387 G A SNP CXorf57 ENST00000372548 human ensembl 74_37 +1 known missense c.1208 p.R403H 1.000 superfamily_NA-bd_OB-fold superfamily_NA-bd_OB-fold - no_errors CXorf57 HGNC ENSG00000147231 78 0 0 97 21 17.7966 IRS4 0 genome.wustl.edu 37 X 107979183 107979183 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 107979183 107979183 G A SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.392 p.A131V 0.756 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 76 0 0 76 18 19.1489 IRS4 0 genome.wustl.edu 37 X 107979335 107979335 + Nonsense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 107979335 107979335 G T SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known nonsense c.240 p.C80* 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 124 0 0 114 35 23.4899 CHRDL1 0 genome.wustl.edu 37 X 109964642 109964642 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 109964642 109964642 G A SNP CHRDL1 ENST00000372042 human ensembl 74_37 -1 known missense c.418 p.P140S 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL1 HGNC ENSG00000101938 368 0 0 353 108 23.4273 ARHGAP6 0 genome.wustl.edu 37 X 11157229 11157229 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 11157229 11157229 C T SNP ARHGAP6 ENST00000337414 human ensembl 74_37 -1 known silent c.2679 p.A893 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 22 0 0 25 10 28.5714 SLC6A14 0 genome.wustl.edu 37 X 115585600 115585600 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 115585600 115585600 G A SNP SLC6A14 ENST00000371900 human ensembl 74_37 +1 known missense c.1396 p.V466M 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A14 HGNC ENSG00000087916 55 0 0 73 15 17.0455 DOCK11 0 genome.wustl.edu 37 X 117727302 117727302 + Splice_Site SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 117727302 117727302 T C SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known splice_site c.2263+2 e20+2 1.000 - - - no_errors DOCK11 HGNC ENSG00000147251 55 0 0 67 26 27.957 ZCCHC12 0 genome.wustl.edu 37 X 117959711 117959711 + Missense_Mutation SNP A A C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 117959711 117959711 A C SNP ZCCHC12 ENST00000310164 human ensembl 74_37 +1 known missense c.504 p.K168N 1.000 NULL superfamily_Znf_CCHC - no_errors ZCCHC12 HGNC ENSG00000174460 163 0 0 143 46 24.3386 PGRMC1 0 genome.wustl.edu 37 X 118374397 118374397 + Missense_Mutation SNP A A T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 118374397 118374397 A T SNP PGRMC1 ENST00000217971 human ensembl 74_37 +1 known missense c.454 p.T152S 1.000 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd - no_errors PGRMC1 HGNC ENSG00000101856 74 0 0 77 18 18.9474 UTP14A 0 genome.wustl.edu 37 X 129055439 129055439 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 129055439 129055439 G T SNP UTP14A ENST00000394422 human ensembl 74_37 +1 known missense c.1224 p.E408D 0.890 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 75 0 0 55 18 24.6575 BCORL1 0 genome.wustl.edu 37 X 129155065 129155065 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 129155065 129155065 C T SNP BCORL1 ENST00000303743 human ensembl 74_37 +1 known missense c.3547 p.R1183W 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 51 0 0 43 14 24.5614 ZNF449 0 genome.wustl.edu 37 X 134494812 134494812 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 134494812 134494812 G A SNP ZNF449 ENST00000339249 human ensembl 74_37 +1 known silent c.1368 p.T456 0.820 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF449 HGNC ENSG00000173275 142 0 0 158 20 11.236 ZIC3 0 genome.wustl.edu 37 X 136649466 136649466 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 136649466 136649466 C T SNP ZIC3 ENST00000287538 human ensembl 74_37 +1 known missense c.616 p.R206C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ENSG00000156925 80 0 0 77 23 23 CSF2RA 0 genome.wustl.edu 37 X 1404703 1404703 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 1404703 1404703 A G SNP CSF2RA ENST00000417535 human ensembl 74_37 +1 known missense c.109 p.N37D 0.002 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 134 0 0 124 41 24.8485 SLITRK4 0 genome.wustl.edu 37 X 142718126 142718126 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 142718126 142718126 C T SNP SLITRK4 ENST00000338017 human ensembl 74_37 -1 known missense c.799 p.G267S 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC ENSG00000179542 86 0 0 100 19 15.9664 UBE2NL 0 genome.wustl.edu 37 X 142967510 142967510 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 142967510 142967510 G A SNP UBE2NL ENST00000370494 human ensembl 74_37 +1 known missense c.308 p.R103H 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2NL HGNC ENSG00000102069 101 0 0 112 16 12.5 MTM1 0 genome.wustl.edu 37 X 149809827 149809827 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 149809827 149809827 C T SNP MTM1 ENST00000370396 human ensembl 74_37 +1 known missense c.614 p.P205L 1.000 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTM1 HGNC ENSG00000171100 122 0 0 107 23 17.6923 CNGA2 0 genome.wustl.edu 37 X 150912333 150912333 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 150912333 150912333 G A SNP CNGA2 ENST00000329903 human ensembl 74_37 +1 known missense c.1358 p.R453H 0.999 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 98 0 0 114 31 21.3793 CNGA2 0 genome.wustl.edu 37 X 150912589 150912589 + Silent SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 150912589 150912589 T C SNP CNGA2 ENST00000329903 human ensembl 74_37 +1 known silent c.1614 p.A538 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 185 0 0 137 44 24.3094 ZNF275 0 genome.wustl.edu 37 X 152613165 152613165 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 152613165 152613165 G A SNP ZNF275 ENST00000440091 human ensembl 74_37 +1 known missense c.1112 p.R371H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF275 HGNC ENSG00000063587 19 0 0 20 7 25.9259 ATP2B3 0 genome.wustl.edu 37 X 152815000 152815000 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 152815000 152815000 G A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.1384 p.E462K 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase 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 ATP2B3 HGNC ENSG00000067842 206 0 0 146 47 24.3523 L1CAM 0 genome.wustl.edu 37 X 153134360 153134360 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 153134360 153134360 C T SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known missense c.1321 p.V441I 0.158 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 183 0 0 142 48 25.2632 AVPR2 0 genome.wustl.edu 37 X 153171568 153171568 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 153171568 153171568 G A SNP AVPR2 ENST00000337474 human ensembl 74_37 +1 known missense c.608 p.R203H 0.348 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR2 HGNC ENSG00000126895 102 0 0 78 19 19.5876 OPN1LW 0 genome.wustl.edu 37 X 153416241 153416241 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 153416241 153416241 G A SNP OPN1LW ENST00000369951 human ensembl 74_37 +1 known missense c.226 p.A76T 0.991 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1LW HGNC ENSG00000102076 113 0 0 125 17 11.9718 OPN1LW 0 genome.wustl.edu 37 X 153418411 153418411 + Splice_Site SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 153418411 153418411 A G SNP OPN1LW ENST00000369951 human ensembl 74_37 +1 known splice_site c.410-2 e3-2 0.996 - - - no_errors OPN1LW HGNC ENSG00000102076 54 0 0 35 11 23.913 NHS 0 genome.wustl.edu 37 X 17739685 17739685 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 17739685 17739685 C T SNP NHS ENST00000380060 human ensembl 74_37 +1 known missense c.977 p.T326M 1.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 59 0 0 71 18 20.2247 KLHL34 0 genome.wustl.edu 37 X 21675004 21675004 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 21675004 21675004 C T SNP KLHL34 ENST00000379499 human ensembl 74_37 -1 known silent c.903 p.P301 0.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL34 HGNC ENSG00000185915 18 0 0 22 6 21.4286 CXorf22 0 genome.wustl.edu 37 X 35937997 35937997 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 35937997 35937997 C T SNP CXorf22 ENST00000297866 human ensembl 74_37 +1 known silent c.81 p.V27 0.000 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 29 0 0 29 8 21.6216 FAM47C 0 genome.wustl.edu 37 X 37027834 37027834 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 37027834 37027834 C T SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.1351 p.R451C 0.003 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 117 1 0.847458 127 32 20.1258 MAOB 0 genome.wustl.edu 37 X 43656372 43656372 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 43656372 43656372 C A SNP MAOB ENST00000378069 human ensembl 74_37 -1 known missense c.618 p.Q206H 1.000 pfam_Amino_oxidase,prints_Flavin_amine_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors MAOB HGNC ENSG00000069535 49 0 0 46 12 20.6897 RP2 0 genome.wustl.edu 37 X 46739137 46739137 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 46739137 46739137 G A SNP RP2 ENST00000218340 human ensembl 74_37 +1 known missense c.986 p.S329N 0.521 superfamily_Nucleoside_diP_kinase,pirsf_Protein_XRP2 pfam_Tubulin-bd_cofactor_C_dom,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2 - no_errors RP2 HGNC ENSG00000102218 58 0 0 63 19 23.1707 CFP 0 genome.wustl.edu 37 X 47485836 47485836 + Silent SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 47485836 47485836 C T SNP CFP ENST00000247153 human ensembl 74_37 -1 known silent c.1023 p.P341 0.090 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors CFP HGNC ENSG00000126759 59 0 0 37 19 33.9286 ZNF182 0 genome.wustl.edu 37 X 47836480 47836480 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 47836480 47836480 G A SNP ZNF182 ENST00000305127 human ensembl 74_37 -1 known missense c.1006 p.H336Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF182 HGNC ENSG00000147118 77 0 0 105 23 17.9688 CCDC120 0 genome.wustl.edu 37 X 48922629 48922629 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 48922629 48922629 G A SNP CCDC120 ENST00000603986 human ensembl 74_37 +1 known missense c.787 p.E263K 0.997 NULL pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 32 0 0 34 11 24.4444 XAGE5 0 genome.wustl.edu 37 X 52842215 52842215 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 52842215 52842215 G A SNP XAGE5 ENST00000351072 human ensembl 74_37 +1 known missense c.124 p.D42N 0.008 pfam_GAGE pfam_GAGE - no_errors XAGE5 HGNC ENSG00000171405 52 0 0 55 22 28.5714 GPR173 0 genome.wustl.edu 37 X 53105840 53105840 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 53105840 53105840 G A SNP GPR173 ENST00000332582 human ensembl 74_37 +1 known missense c.37 p.G13S 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR173 HGNC ENSG00000184194 37 0 0 45 10 18.1818 GPR173 0 genome.wustl.edu 37 X 53106226 53106226 + Silent SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 53106226 53106226 G A SNP GPR173 ENST00000332582 human ensembl 74_37 +1 known silent c.423 p.A141 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR173 HGNC ENSG00000184194 52 0 0 51 10 16.3934 KDM5C 0 genome.wustl.edu 37 X 53222180 53222180 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 53222180 53222180 C T SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.4652 p.C1551Y 0.995 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 56 0 0 49 6 10.9091 FGD1 0 genome.wustl.edu 37 X 54482960 54482960 + Silent SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 54482960 54482960 A G SNP FGD1 ENST00000375135 human ensembl 74_37 -1 known silent c.1677 p.N559 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 46 0 0 45 14 23.7288 ITIH6 0 genome.wustl.edu 37 X 54783866 54783866 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 54783866 54783866 T C SNP ITIH6 ENST00000218436 human ensembl 74_37 -1 known missense c.2641 p.M881V 0.000 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 91 0 0 107 19 15.0794 NLGN4X 0 genome.wustl.edu 37 X 5821721 5821721 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 5821721 5821721 G A SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.1058 p.P353L 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 121 0 0 129 37 22.2892 LAS1L 0 genome.wustl.edu 37 X 64734803 64734803 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 64734803 64734803 C T SNP LAS1L ENST00000374811 human ensembl 74_37 -1 known missense c.1978 p.E660K 0.987 NULL pfam_Las1 - no_errors LAS1L HGNC ENSG00000001497 39 0 0 33 14 29.7872 HEPH 0 genome.wustl.edu 37 X 65427137 65427137 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 65427137 65427137 C T SNP HEPH ENST00000519389 human ensembl 74_37 +1 known missense c.2554 p.R852W 0.000 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 29 0 0 30 9 23.0769 AR 0 genome.wustl.edu 37 X 66931469 66931469 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 66931469 66931469 G A SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.2111 p.S704N 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 33 0 0 29 11 27.5 ARR3 0 genome.wustl.edu 37 X 69500125 69500125 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 69500125 69500125 G A SNP ARR3 ENST00000307959 human ensembl 74_37 +1 known missense c.986 p.G329D 1.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARR3 HGNC ENSG00000120500 105 0 0 100 30 23.0769 NONO 0 genome.wustl.edu 37 X 70519795 70519795 + Missense_Mutation SNP C C A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 70519795 70519795 C A SNP NONO ENST00000276079 human ensembl 74_37 +1 known missense c.1285 p.P429T 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors NONO HGNC ENSG00000147140 93 0 0 79 20 20.202 TAF1 0 genome.wustl.edu 37 X 70586174 70586174 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 70586174 70586174 G A SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.10 p.G4S 0.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 82 0 0 99 26 20.8 ACRC 0 genome.wustl.edu 37 X 70814183 70814183 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 70814183 70814183 G A SNP ACRC ENST00000373695 human ensembl 74_37 +1 known missense c.143 p.C48Y 0.000 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 35 0 0 51 7 12.069 CDX4 0 genome.wustl.edu 37 X 72667406 72667406 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 72667406 72667406 C T SNP CDX4 ENST00000373514 human ensembl 74_37 +1 known missense c.317 p.A106V 0.000 pfam_Caudal_activation_dom pfam_Caudal_activation_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX4 HGNC ENSG00000131264 47 0 0 28 12 30 STS 0 genome.wustl.edu 37 X 7268043 7268043 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 7268043 7268043 A G SNP STS ENST00000217961 human ensembl 74_37 +1 known missense c.1493 p.D498G 0.888 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors STS HGNC ENSG00000101846 83 0 0 68 21 23.5955 KIAA2022 0 genome.wustl.edu 37 X 73964076 73964076 + Missense_Mutation SNP C C T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 73964076 73964076 C T SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.316 p.A106T 0.542 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 96 0 0 99 28 22.0472 BRWD3 0 genome.wustl.edu 37 X 79955509 79955509 + Missense_Mutation SNP T T C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 79955509 79955509 T C SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known missense c.2890 p.K964E 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 21 0 0 17 10 37.037 HDX 0 genome.wustl.edu 37 X 83724102 83724102 + Missense_Mutation SNP G G T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 83724102 83724102 G T SNP HDX ENST00000297977 human ensembl 74_37 -1 known missense c.629 p.P210H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HDX HGNC ENSG00000165259 113 0 0 165 35 17.5 ZNF711 0 genome.wustl.edu 37 X 84510294 84510294 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 84510294 84510294 G A SNP ZNF711 ENST00000395402 human ensembl 74_37 +1 known missense c.43 p.D15N 1.000 NULL pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 80 0 0 81 22 21.3592 KAL1 0 genome.wustl.edu 37 X 8507773 8507773 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 8507773 8507773 G A SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known missense c.1381 p.R461W 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 56 0 0 61 13 17.5676 PABPC5 0 genome.wustl.edu 37 X 90691415 90691415 + Missense_Mutation SNP G G A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 90691415 90691415 G A SNP PABPC5 ENST00000312600 human ensembl 74_37 +1 known missense c.839 p.R280H 0.999 tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 54 0 0 51 15 22.7273 PCDH11X 0 genome.wustl.edu 37 X 91873919 91873919 + Missense_Mutation SNP A A G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 91873919 91873919 A G SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.4024 p.M1342V 0.677 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 138 0 0 121 45 27.1084 WDR47 0 genome.wustl.edu 37 1 109560141 109560141 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 109560141 109560141 T - DEL WDR47 ENST00000400794 human ensembl 74_37 -1 known frame_shift_del c.241 p.R81fs 1.000 smart_CTLH_C,pfscan_CTLH_C pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 40 0 0 46 13 22.0339 PTCHD2 0 genome.wustl.edu 37 1 11595683 11595684 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 11595683 11595684 - C INS PTCHD2 ENST00000294484 human ensembl 74_37 +1 known frame_shift_ins c.3798_3799 p.H1268fs 0.997:1.000 pfam_Patched,pfam_MMPL_dom pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 95 0 0 101 10 9.00901 VPS13D 0 genome.wustl.edu 37 1 12405431 12405432 + Frame_Shift_Del DEL AC AC - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 12405431 12405432 AC - DEL VPS13D ENST00000358136 human ensembl 74_37 +1 known frame_shift_del c.8886_8887 p.T2964fs 1.000:1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 137 0 0 137 31 18.4524 RFX5 0 genome.wustl.edu 37 1 151315454 151315454 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 151315454 151315454 G - DEL RFX5 ENST00000290524 human ensembl 74_37 -1 known frame_shift_del c.1059 p.R354fs 0.997 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 96 0 0 81 7 7.95455 YY1AP1 0 genome.wustl.edu 37 1 155658010 155658012 + In_Frame_Del DEL GAG GAG - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 155658010 155658012 GAG - DEL YY1AP1 ENST00000368339 human ensembl 74_37 -1 known in_frame_del c.246_244 p.L82in_frame_del 0.998:0.997:0.996 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 36 0 0 42 7 14.2857 ARHGAP30 0 genome.wustl.edu 37 1 161017600 161017601 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 161017600 161017601 - G INS ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known frame_shift_ins c.3211_3210 p.R1070fs 0.877:0.882 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 136 0 0 132 21 13.7255 SLC19A2 0 genome.wustl.edu 37 1 169438066 169438067 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 169438066 169438067 - A INS SLC19A2 ENST00000236137 human ensembl 74_37 -1 known frame_shift_ins c.1039_1038 p.A346fs 1.000:0.996 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier - no_errors SLC19A2 HGNC ENSG00000117479 87 0 0 91 27 22.8814 KIAA1614 0 genome.wustl.edu 37 1 180914638 180914639 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 180914638 180914639 - T INS KIAA1614 ENST00000367588 human ensembl 74_37 +1 known frame_shift_ins c.3487_3488 p.P1164fs 0.003:0.009 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 53 0 0 60 8 11.7647 RNASEL 0 genome.wustl.edu 37 1 182545526 182545527 + Splice_Site INS - - AA TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 182545526 182545527 - AA INS RNASEL ENST00000367559 human ensembl 74_37 -1 known splice_site_ins c.1906-3_1906-2 e5-2 0.956:0.341 - - - no_errors RNASEL HGNC ENSG00000135828 13 0 0 7 5 41.6667 NEK7 0 genome.wustl.edu 37 1 198225610 198225610 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 198225610 198225610 A - DEL NEK7 ENST00000367383 human ensembl 74_37 +1 putative frame_shift_del c.351 p.K119fs 0.008 NULL superfamily_Kinase-like_dom - no_errors NEK7 HGNC ENSG00000151414 23 0 0 17 11 39.2857 NUAK2 0 genome.wustl.edu 37 1 205273438 205273438 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 205273438 205273438 G - DEL NUAK2 ENST00000367157 human ensembl 74_37 -1 known frame_shift_del c.1027 p.L343fs 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK2 HGNC ENSG00000163545 46 0 0 55 12 17.9104 KCTD3 0 genome.wustl.edu 37 1 215793922 215793922 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 215793922 215793922 A - DEL KCTD3 ENST00000259154 human ensembl 74_37 +1 known frame_shift_del c.2410 p.S806fs 0.310 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 73 0 0 91 10 9.90099 CDC42BPA 0 genome.wustl.edu 37 1 227227896 227227898 + In_Frame_Del DEL AGG AGG - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 227227896 227227898 AGG - DEL CDC42BPA ENST00000334218 human ensembl 74_37 -1 known in_frame_del c.3030_3028 p.P1010in_frame_del 0.993:1.000:1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 43 0 0 58 8 12.1212 ARV1 0 genome.wustl.edu 37 1 231114993 231114994 + Frame_Shift_Del DEL TA TA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 231114993 231114994 TA - DEL ARV1 ENST00000310256 human ensembl 74_37 +1 known frame_shift_del c.142_143 p.Y48fs 1.000:1.000 pfam_Arv1 pfam_Arv1 - no_errors ARV1 HGNC ENSG00000173409 63 0 0 79 9 10.2273 C1orf131 0 genome.wustl.edu 37 1 231362561 231362561 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 231362561 231362561 T - DEL C1orf131 ENST00000366649 human ensembl 74_37 -1 known frame_shift_del c.617 p.K206fs 0.924 NULL NULL - no_errors C1orf131 HGNC ENSG00000143633 85 0 0 129 31 19.375 CHRM3 0 genome.wustl.edu 37 1 240072444 240072444 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 240072444 240072444 A - DEL CHRM3 ENST00000255380 human ensembl 74_37 +1 known frame_shift_del c.1693 p.K567fs 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 80 0 0 70 11 13.5802 CHML 0 genome.wustl.edu 37 1 241798086 241798087 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 241798086 241798087 - T INS CHML ENST00000366553 human ensembl 74_37 -1 known frame_shift_ins c.983_982 p.T328fs 1.000:1.000 pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHML HGNC ENSG00000203668 94 0 0 117 28 19.3103 OR2T7 0 genome.wustl.edu 37 1 248604959 248604959 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 248604959 248604959 C - DEL OR2T7 ENST00000460972 human ensembl 74_37 +1 known frame_shift_del c.452 p.V153fs 0.050 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T7 HGNC ENSG00000227152 122 0 0 177 14 7.32984 RHCE 0 genome.wustl.edu 37 1 25747185 25747185 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 25747185 25747185 A - DEL RHCE ENST00000294413 human ensembl 74_37 -1 known frame_shift_del c.93 p.F31fs 0.350 pfam_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHCE HGNC ENSG00000188672 122 0 0 131 30 18.6335 ARID1A 0 genome.wustl.edu 37 1 27088787 27088788 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 27088787 27088788 - G INS ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_ins c.2396_2397 p.Q802fs 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 72 0 0 86 23 21.1009 HCRTR1 0 genome.wustl.edu 37 1 32084832 32084832 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 32084832 32084832 C - DEL HCRTR1 ENST00000373706 human ensembl 74_37 +1 known frame_shift_del c.39 p.P15fs 0.996 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt - no_errors HCRTR1 HGNC ENSG00000121764 86 0 0 101 31 23.4848 FNDC5 0 genome.wustl.edu 37 1 33330280 33330280 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 33330280 33330280 C - DEL FNDC5 ENST00000609187 human ensembl 74_37 -1 known frame_shift_del c.393 p.L132fs 0.275 NULL superfamily_Fibronectin_type3 - no_errors FNDC5 HGNC ENSG00000160097 89 0 0 89 20 18.3486 DLGAP3 0 genome.wustl.edu 37 1 35370731 35370731 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 35370731 35370731 C - DEL DLGAP3 ENST00000235180 human ensembl 74_37 -1 known frame_shift_del c.254 p.G85fs 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 9 0 0 6 2 25 MAP7D1 0 genome.wustl.edu 37 1 36636626 36636626 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 36636626 36636626 C - DEL MAP7D1 ENST00000373151 human ensembl 74_37 +1 known frame_shift_del c.101 p.P36fs 0.090 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 132 0 0 121 24 16.5517 RHBDL2 0 genome.wustl.edu 37 1 39384905 39384905 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 39384905 39384905 C - DEL RHBDL2 ENST00000372985 human ensembl 74_37 -1 known frame_shift_del c.220 p.E74fs 0.963 pirsf_Peptidase_S54_rhomboid_met pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met - no_errors RHBDL2 HGNC ENSG00000158315 155 0 0 130 37 22.1557 PRKAA2 0 genome.wustl.edu 37 1 57169748 57169748 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 57169748 57169748 A - DEL PRKAA2 ENST00000371244 human ensembl 74_37 +1 known frame_shift_del c.893 p.K299fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA2 HGNC ENSG00000162409 169 0 0 181 35 16.2037 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 42 0 0 29 14 32.5581 BRDT 0 genome.wustl.edu 37 1 92447227 92447228 + In_Frame_Ins INS - - AGC TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 92447227 92447228 - AGC INS BRDT ENST00000362005 human ensembl 74_37 +1 known in_frame_ins c.1917_1918 p.643in_frame_insS 0.003:0.989 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 78 0 0 110 10 8.33333 CCDC18 0 genome.wustl.edu 37 1 93667516 93667516 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 93667516 93667516 A - DEL CCDC18 ENST00000557479 human ensembl 74_37 +1 known frame_shift_del c.1120 p.V377fs 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 41 0 0 34 13 27.6596 DNTTIP2 0 genome.wustl.edu 37 1 94343012 94343013 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 1 94343012 94343013 - T INS DNTTIP2 ENST00000436063 human ensembl 74_37 -1 known frame_shift_ins c.479_478 p.T160fs 0.000:0.000 NULL pfam_Fcf2 - no_errors DNTTIP2 HGNC ENSG00000067334 75 0 0 87 22 20.1835 HPSE2 0 genome.wustl.edu 37 10 100995502 100995503 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 100995502 100995503 - G INS HPSE2 ENST00000370552 human ensembl 74_37 -1 known frame_shift_ins c.58_57 p.A19fs 0.086:0.008 NULL pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 110 0 0 106 18 14.5161 CUBN 0 genome.wustl.edu 37 10 16949569 16949569 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 16949569 16949569 A - DEL CUBN ENST00000377833 human ensembl 74_37 -1 known frame_shift_del c.7643 p.F2548fs 0.992 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 55 0 0 48 7 12.7273 YME1L1 0 genome.wustl.edu 37 10 27423766 27423766 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 27423766 27423766 T - DEL YME1L1 ENST00000326799 human ensembl 74_37 -1 known frame_shift_del c.856 p.T286fs 1.000 NULL pfam_Peptidase_M41,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors YME1L1 HGNC ENSG00000136758 56 0 0 60 13 17.8082 ASAH2 0 genome.wustl.edu 37 10 52005193 52005194 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 52005193 52005194 - A INS ASAH2 ENST00000395526 human ensembl 74_37 -1 known frame_shift_ins c.149_148 p.S50fs 0.000:0.000 NULL pfam_Ceramidase_alk - no_errors ASAH2 HGNC ENSG00000188611 29 0 0 39 8 17.0213 EIF4EBP2 0 genome.wustl.edu 37 10 72164272 72164272 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 72164272 72164272 G - DEL EIF4EBP2 ENST00000373218 human ensembl 74_37 +1 known frame_shift_del c.115 p.T41fs 1.000 pfam_EIF4EBP pfam_EIF4EBP - no_errors EIF4EBP2 HGNC ENSG00000148730 38 0 0 23 7 23.3333 LIPA 0 genome.wustl.edu 37 10 90984930 90984930 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 90984930 90984930 A - DEL LIPA ENST00000336233 human ensembl 74_37 -1 known frame_shift_del c.594 p.F198fs 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase - no_errors LIPA HGNC ENSG00000107798 272 0 0 306 61 16.6213 SLC16A12 0 genome.wustl.edu 37 10 91203598 91203598 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 91203598 91203598 A - DEL SLC16A12 ENST00000371790 human ensembl 74_37 -1 known frame_shift_del c.219 p.F73fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A12 HGNC ENSG00000152779 24 0 0 41 7 14.5833 ZNF518A 0 genome.wustl.edu 37 10 97918856 97918856 + RNA DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 97918856 97918856 A - DEL ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.867 - - - no_errors ZNF518A HGNC ENSG00000177853 50 0 0 56 14 20 TM9SF3 0 genome.wustl.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 98336475 98336475 T - DEL TM9SF3 ENST00000371142 human ensembl 74_37 -1 known frame_shift_del c.214 p.S72fs 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 90 0 0 106 29 21.4815 PI4K2A 0 genome.wustl.edu 37 10 99344577 99344577 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 10 99344577 99344577 C - DEL PI4K2A ENST00000555577 human ensembl 74_37 +1 known frame_shift_del c.117 p.P41fs 1.000 NULL pfam_PI3/4_kinase_cat_dom - no_errors PI4K2A HGNC ENSG00000155252 130 0 0 104 37 26.2411 TRPC6 0 genome.wustl.edu 37 11 101362287 101362287 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 101362287 101362287 T - DEL TRPC6 ENST00000344327 human ensembl 74_37 -1 known frame_shift_del c.1128 p.K376fs 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 112 0 0 162 42 20.5882 MSANTD4 0 genome.wustl.edu 37 11 105880739 105880739 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 105880739 105880739 A - DEL MSANTD4 ENST00000301919 human ensembl 74_37 -1 known frame_shift_del c.561 p.F187fs 0.903 NULL NULL - no_errors MSANTD4 HGNC ENSG00000170903 84 0 0 81 12 12.9032 CWF19L2 0 genome.wustl.edu 37 11 107299981 107299981 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 107299981 107299981 T - DEL CWF19L2 ENST00000282251 human ensembl 74_37 -1 known frame_shift_del c.977 p.N326fs 0.000 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 40 0 0 30 9 23.0769 DDX10 0 genome.wustl.edu 37 11 108544239 108544239 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 108544239 108544239 A - DEL DDX10 ENST00000322536 human ensembl 74_37 +1 known frame_shift_del c.232 p.T80fs 0.988 pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX10 HGNC ENSG00000178105 30 0 0 38 7 15.5556 BCL9L 0 genome.wustl.edu 37 11 118770652 118770652 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 118770652 118770652 G - DEL BCL9L ENST00000334801 human ensembl 74_37 -1 known frame_shift_del c.3380 p.P1127fs 0.996 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 43 0 0 39 13 25 SPTY2D1 0 genome.wustl.edu 37 11 18637238 18637245 + Frame_Shift_Del DEL GCTCTTCT GCTCTTCT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 GCTCTTCT GCTCTTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 18637238 18637245 GCTCTTCT - DEL SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known frame_shift_del c.583_576 p.E193fs 0.997:0.997:1.000:1.000:1.000:1.000:1.000:0.809 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 103 0 0 127 19 13.0137 CCDC73 0 genome.wustl.edu 37 11 32635951 32635951 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 32635951 32635951 T - DEL CCDC73 ENST00000335185 human ensembl 74_37 -1 known frame_shift_del c.1913 p.N638fs 0.024 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 33 0 0 29 7 19.4444 GYLTL1B 0 genome.wustl.edu 37 11 45948373 45948373 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 45948373 45948373 C - DEL GYLTL1B ENST00000325468 human ensembl 74_37 +1 known frame_shift_del c.1276 p.R428fs 0.023 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 78 0 0 83 14 14.433 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423 p.M144fs 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 53 0 0 57 8 12.3077 INTS5 0 genome.wustl.edu 37 11 62416131 62416131 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 62416131 62416131 A - DEL INTS5 ENST00000330574 human ensembl 74_37 -1 known frame_shift_del c.1421 p.L474fs 1.000 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 226 0 0 172 38 18.0952 BSCL2 0 genome.wustl.edu 37 11 62458782 62458783 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 62458782 62458783 - C INS BSCL2 ENST00000360796 human ensembl 74_37 -1 known frame_shift_ins c.975_974 p.I326fs 0.932:0.937 NULL pfam_Adipose-reg_protein_Seipin - no_errors BSCL2 HGNC ENSG00000168000 69 0 0 84 16 16 SLC3A2 0 genome.wustl.edu 37 11 62649529 62649529 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 62649529 62649529 A - DEL SLC3A2 ENST00000377892 human ensembl 74_37 +1 known frame_shift_del c.985 p.K331fs 1.000 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 111 0 0 110 23 17.2932 SLC22A10 0 genome.wustl.edu 37 11 63072237 63072237 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 63072237 63072237 T - DEL SLC22A10 ENST00000332793 human ensembl 74_37 +1 known frame_shift_del c.1474 p.F493fs 0.002 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 106 0 0 121 33 21.4286 MALAT1 0 genome.wustl.edu 37 11 65272638 65272639 + RNA INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 65272638 65272639 - T INS MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 54 0 0 51 13 20.3125 SUV420H1 0 genome.wustl.edu 37 11 67934457 67934457 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 67934457 67934457 T - DEL SUV420H1 ENST00000304363 human ensembl 74_37 -1 known frame_shift_del c.1166 p.N389fs 0.524 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 38 0 0 41 13 24.0741 MRGPRF 0 genome.wustl.edu 37 11 68777238 68777238 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 68777238 68777238 G - DEL MRGPRF ENST00000320913 human ensembl 74_37 -1 novel frame_shift_del c.132 p.I45fs 0.000 NULL NULL - no_errors MRGPRF HGNC ENSG00000172935 20 0 0 15 7 31.8182 ENSG00000225805 0 genome.wustl.edu 37 11 71589510 71589511 + RNA INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 71589510 71589511 - T INS ENSG00000225805 ENST00000530210 human ensembl 74_37 +1 known rna NULL NULL 0.024:0.018 - - - no_errors CTD-2313N18.7 Clone_based_vega_gene ENSG00000225805 63 0 0 83 16 16.1616 INPPL1 0 genome.wustl.edu 37 11 71948209 71948209 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 71948209 71948209 C - DEL INPPL1 ENST00000298229 human ensembl 74_37 +1 known frame_shift_del c.2921 p.P976fs 0.066 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 170 0 0 201 11 5.18868 SCUBE2 0 genome.wustl.edu 37 11 9048995 9048996 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 9048995 9048996 - G INS SCUBE2 ENST00000457346 human ensembl 74_37 -1 known frame_shift_ins c.2617_2616 p.K872fs 1.000:0.978 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 61 0 0 51 9 15 TMEM41B 0 genome.wustl.edu 37 11 9304992 9304992 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 11 9304992 9304992 T - DEL TMEM41B ENST00000299596 human ensembl 74_37 -1 known frame_shift_del c.855 p.K285fs 1.000 NULL pfam_SNARE_assoc - no_errors TMEM41B HGNC ENSG00000166471 28 0 0 28 7 20 MVK 0 genome.wustl.edu 37 12 110019240 110019240 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 110019240 110019240 C - DEL MVK ENST00000228510 human ensembl 74_37 +1 known frame_shift_del c.412 p.A141fs 1.000 pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin - no_errors MVK HGNC ENSG00000110921 120 0 0 95 35 26.9231 TAS2R14 0 genome.wustl.edu 37 12 11091592 11091592 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 11091592 11091592 A - DEL TAS2R14 ENST00000537503 human ensembl 74_37 -1 known frame_shift_del c.215 p.F72fs 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R14 HGNC ENSG00000212127 27 0 0 37 7 15.9091 RASAL1 0 genome.wustl.edu 37 12 113553778 113553779 + Frame_Shift_Del DEL GA GA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 113553778 113553779 GA - DEL RASAL1 ENST00000546530 human ensembl 74_37 -1 known frame_shift_del c.810_809 p.L270fs 0.016:0.996 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 157 0 0 154 30 16.3043 ABCC9 0 genome.wustl.edu 37 12 21997480 21997480 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 21997480 21997480 A - DEL ABCC9 ENST00000261200 human ensembl 74_37 -1 known frame_shift_del c.3252 p.F1084fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 100 0 0 136 17 11.1111 CAPRIN2 0 genome.wustl.edu 37 12 30906514 30906515 + Frame_Shift_Del DEL AA AA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 30906514 30906515 AA - DEL CAPRIN2 ENST00000251071 human ensembl 74_37 -1 known frame_shift_del c.184_183 p.S62fs 0.827:0.846 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 99 0 0 115 26 18.4397 KIF21A 0 genome.wustl.edu 37 12 39734129 39734129 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 39734129 39734129 T - DEL KIF21A ENST00000395670 human ensembl 74_37 -1 known frame_shift_del c.2148 p.V717fs 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 14 0 0 15 7 31.8182 LRRK2 0 genome.wustl.edu 37 12 40713870 40713870 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 40713870 40713870 A - DEL LRRK2 ENST00000298910 human ensembl 74_37 +1 known frame_shift_del c.4908 p.R1639fs 0.408 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 101 0 0 118 25 17.4825 PLEKHA8P1 0 genome.wustl.edu 37 12 45566878 45566878 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 45566878 45566878 T - DEL PLEKHA8P1 ENST00000256692 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 10 0 0 5 7 58.3333 ZNF740 0 genome.wustl.edu 37 12 53579255 53579255 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 53579255 53579255 A - DEL ZNF740 ENST00000416904 human ensembl 74_37 +1 known frame_shift_del c.244 p.K83fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF740 HGNC ENSG00000139651 31 0 0 39 7 15.2174 ESPL1 0 genome.wustl.edu 37 12 53682904 53682904 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 53682904 53682904 C - DEL ESPL1 ENST00000257934 human ensembl 74_37 +1 known frame_shift_del c.4739 p.L1581fs 0.994 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 98 0 0 96 12 11.1111 GPR84 0 genome.wustl.edu 37 12 54757554 54757554 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 54757554 54757554 C - DEL GPR84 ENST00000267015 human ensembl 74_37 -1 known frame_shift_del c.82 p.V28fs 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR84 HGNC ENSG00000139572 42 0 0 49 7 12.5 OR6C75 0 genome.wustl.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 55759192 55759192 T - DEL OR6C75 ENST00000343399 human ensembl 74_37 +1 known frame_shift_del c.298 p.F102fs 0.964 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 OR6C75 HGNC ENSG00000187857 102 0 0 119 23 16.1972 MYO1A 0 genome.wustl.edu 37 12 57422573 57422573 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 57422573 57422573 T - DEL MYO1A ENST00000300119 human ensembl 74_37 -1 known frame_shift_del c.3098 p.K1033fs 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 103 0 0 83 47 36.1538 NAB2 0 genome.wustl.edu 37 12 57485450 57485450 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 57485450 57485450 C - DEL NAB2 ENST00000300131 human ensembl 74_37 +1 known frame_shift_del c.626 p.P211fs 1.000 pfam_NAB_co-repressor_dom pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 47 0 0 63 11 14.8649 LRP1 0 genome.wustl.edu 37 12 57556255 57556256 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 57556255 57556256 - C INS LRP1 ENST00000243077 human ensembl 74_37 +1 known frame_shift_ins c.2358_2359 p.I788fs 0.969:1.000 NULL 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 136 0 0 104 10 8.77193 B4GALNT3 0 genome.wustl.edu 37 12 653594 653594 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 653594 653594 C - DEL B4GALNT3 ENST00000266383 human ensembl 74_37 +1 known frame_shift_del c.441 p.H149fs 1.000 pfam_PA14,smart_PA14 pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 107 0 0 119 28 19.0476 HELB 0 genome.wustl.edu 37 12 66704208 66704208 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 66704208 66704208 A - DEL HELB ENST00000247815 human ensembl 74_37 +1 known frame_shift_del c.1500 p.A503fs 0.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELB HGNC ENSG00000127311 85 0 0 111 19 14.6154 BEST3 0 genome.wustl.edu 37 12 70091534 70091534 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 70091534 70091534 A - DEL BEST3 ENST00000330891 human ensembl 74_37 -1 known frame_shift_del c.45 p.F15fs 1.000 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 98 0 0 126 25 16.5563 TSPAN8 0 genome.wustl.edu 37 12 71531768 71531769 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 71531768 71531769 - T INS TSPAN8 ENST00000247829 human ensembl 74_37 -1 known frame_shift_ins c.409_408 p.Q136fs 0.000:0.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN8 HGNC ENSG00000127324 82 0 0 103 18 14.876 ATP2B1 0 genome.wustl.edu 37 12 90020290 90020290 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 90020290 90020290 T - DEL ATP2B1 ENST00000261173 human ensembl 74_37 -1 known frame_shift_del c.1070 p.K357fs 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_plasma 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 ATP2B1 HGNC ENSG00000070961 43 0 0 51 14 21.5385 NTN4 0 genome.wustl.edu 37 12 96107008 96107008 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 12 96107008 96107008 C - DEL NTN4 ENST00000343702 human ensembl 74_37 -1 known frame_shift_del c.973 p.A325fs 1.000 smart_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN4 HGNC ENSG00000074527 50 0 0 82 13 13.6842 MICU2 0 genome.wustl.edu 37 13 22077129 22077129 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 22077129 22077129 A - DEL MICU2 ENST00000382374 human ensembl 74_37 -1 known frame_shift_del c.869 p.F290fs 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU2 HGNC ENSG00000165487 41 0 0 32 8 20 PDS5B 0 genome.wustl.edu 37 13 33344888 33344888 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 33344888 33344888 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.4161 p.N1390fs 0.002 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 16 0 0 15 7 31.8182 SPRYD7 0 genome.wustl.edu 37 13 50495667 50495667 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 50495667 50495667 T - DEL SPRYD7 ENST00000361840 human ensembl 74_37 -1 known frame_shift_del c.440 p.N147fs 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors SPRYD7 HGNC ENSG00000123178 66 0 0 92 21 18.5841 PTMAP5 0 genome.wustl.edu 37 13 82265134 82265134 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 13 82265134 82265134 T - DEL PTMAP5 ENST00000607242 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors PTMAP5 HGNC ENSG00000214182 20 0 0 32 6 15.7895 DYNC1H1 0 genome.wustl.edu 37 14 102476415 102476416 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 102476415 102476416 - T INS DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known frame_shift_ins c.6213_6214 p.K2073fs 0.001:0.999 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 64 0 0 67 20 22.9885 DYNC1H1 0 genome.wustl.edu 37 14 102506020 102506021 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 102506020 102506021 - T INS DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known frame_shift_ins c.11641_11642 p.T3882fs 1.000:1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 189 0 0 189 43 18.5345 ZNF839 0 genome.wustl.edu 37 14 102793200 102793201 + Frame_Shift_Del DEL AG AG - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 102793200 102793201 AG - DEL ZNF839 ENST00000442396 human ensembl 74_37 +1 known frame_shift_del c.1167_1168 p.E390fs 0.000:0.001 NULL pfscan_Znf_C2H2 - no_errors ZNF839 HGNC ENSG00000022976 16 0 0 16 6 27.2727 AKAP6 0 genome.wustl.edu 37 14 33291535 33291535 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 33291535 33291535 A - DEL AKAP6 ENST00000280979 human ensembl 74_37 +1 known frame_shift_del c.4516 p.K1507fs 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 73 0 0 65 17 20.7317 INSM2 0 genome.wustl.edu 37 14 36005057 36005057 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 36005057 36005057 T - DEL INSM2 ENST00000307169 human ensembl 74_37 +1 known frame_shift_del c.1599 p.F535fs 0.624 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 41 0 0 51 12 19.0476 MDGA2 0 genome.wustl.edu 37 14 47566079 47566080 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 47566079 47566080 - T INS MDGA2 ENST00000439988 human ensembl 74_37 -1 known frame_shift_ins c.1173_1172 p.S392fs 1.000:1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 88 0 0 111 21 15.9091 NIN 0 genome.wustl.edu 37 14 51237236 51237236 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 51237236 51237236 T - DEL NIN ENST00000245441 human ensembl 74_37 -1 known frame_shift_del c.1304 p.N435fs 0.975 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 74 0 0 101 16 13.6752 DACT1 0 genome.wustl.edu 37 14 59112383 59112383 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 59112383 59112383 A - DEL DACT1 ENST00000335867 human ensembl 74_37 +1 known frame_shift_del c.1042 p.T350fs 1.000 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 36 0 0 58 10 14.7059 ADAM21 0 genome.wustl.edu 37 14 70926261 70926261 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 70926261 70926261 T - DEL ADAM21 ENST00000267499 human ensembl 74_37 +1 known frame_shift_del c.2045 p.L684fs 0.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 48 0 0 47 8 14.5455 FLVCR2 0 genome.wustl.edu 37 14 76108219 76108222 + Frame_Shift_Del DEL CAAA CAAA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CAAA CAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 76108219 76108222 CAAA - DEL FLVCR2 ENST00000238667 human ensembl 74_37 +1 known frame_shift_del c.1487_1490 p.N497fs 1.000:0.988:1.000:1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom - no_errors FLVCR2 HGNC ENSG00000119686 107 0 0 124 21 14.4828 PTPN21 0 genome.wustl.edu 37 14 88940113 88940113 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 88940113 88940113 T - DEL PTPN21 ENST00000328736 human ensembl 74_37 -1 known frame_shift_del c.2545 p.I849fs 0.995 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 85 0 0 92 18 16.3636 FOXN3 0 genome.wustl.edu 37 14 89878533 89878534 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 14 89878533 89878534 - G INS FOXN3 ENST00000261302 human ensembl 74_37 -1 known frame_shift_ins c.288_287 p.S97fs 0.006:0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 85 0 0 94 11 10.4762 ALDH1A3 0 genome.wustl.edu 37 15 101438350 101438350 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 101438350 101438350 G - DEL ALDH1A3 ENST00000329841 human ensembl 74_37 +1 known frame_shift_del c.843 p.K284fs 0.008 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 62 0 0 77 10 11.4943 SNORD64 0 genome.wustl.edu 37 15 25230192 25230192 + RNA DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 25230192 25230192 T - DEL SNORD64 ENST00000605533 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD64 HGNC ENSG00000270704 32 0 0 26 7 21.2121 GABRG3 0 genome.wustl.edu 37 15 27571973 27571974 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 27571973 27571974 - T INS GABRG3 ENST00000333743 human ensembl 74_37 +1 known frame_shift_ins c.288_289 p.A98fs 1.000:1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC ENSG00000182256 122 0 0 150 32 17.5824 HERC2 0 genome.wustl.edu 37 15 28478874 28478874 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 28478874 28478874 G - DEL HERC2 ENST00000261609 human ensembl 74_37 -1 known frame_shift_del c.4287 p.E1430fs 0.387 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 77 0 0 102 23 18.4 PRTG 0 genome.wustl.edu 37 15 55912892 55912892 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 55912892 55912892 A - DEL PRTG ENST00000389286 human ensembl 74_37 -1 known frame_shift_del c.3167 p.F1056fs 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 41 0 0 34 6 15 ADAM10 0 genome.wustl.edu 37 15 59009847 59009847 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 59009847 59009847 T - DEL ADAM10 ENST00000260408 human ensembl 74_37 -1 known frame_shift_del c.135 p.K45fs 1.000 pfam_Peptidase_M12B_N pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM10 HGNC ENSG00000137845 43 0 0 50 5 9.09091 IGDCC3 0 genome.wustl.edu 37 15 65625736 65625736 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 65625736 65625736 C - DEL IGDCC3 ENST00000327987 human ensembl 74_37 -1 known frame_shift_del c.841 p.V281fs 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC3 HGNC ENSG00000174498 40 0 0 22 7 24.1379 C15orf39 0 genome.wustl.edu 37 15 75499818 75499818 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 75499818 75499818 C - DEL C15orf39 ENST00000360639 human ensembl 74_37 +1 known frame_shift_del c.1429 p.C479fs 0.000 NULL NULL - no_errors C15orf39 HGNC ENSG00000167173 98 0 0 92 19 17.1171 C15orf27 0 genome.wustl.edu 37 15 76448997 76448997 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 76448997 76448997 T - DEL C15orf27 ENST00000388942 human ensembl 74_37 +1 known frame_shift_del c.280 p.L95fs 1.000 NULL NULL - no_errors C15orf27 HGNC ENSG00000169758 80 0 0 71 13 15.4762 PSMA4 0 genome.wustl.edu 37 15 78841212 78841212 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 78841212 78841212 A - DEL PSMA4 ENST00000044462 human ensembl 74_37 +1 known frame_shift_del c.712 p.K239fs 1.000 NULL pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA4 HGNC ENSG00000041357 60 0 0 59 11 15.7143 AGBL1 0 genome.wustl.edu 37 15 86807693 86807693 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 15 86807693 86807693 A - DEL AGBL1 ENST00000441037 human ensembl 74_37 +1 known frame_shift_del c.1153 p.N387fs 0.000 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 48 0 0 51 13 20.3125 SOX8 0 genome.wustl.edu 37 16 1035259 1035260 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 1035259 1035260 - C INS SOX8 ENST00000293894 human ensembl 74_37 +1 known frame_shift_ins c.1214_1215 p.C407fs 1.000:1.000 NULL pfam_HMG_box_dom,pfam_Sox_N,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX8 HGNC ENSG00000005513 61 0 0 57 13 18.5714 PKD1 0 genome.wustl.edu 37 16 2143071 2143071 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 2143071 2143071 A - DEL PKD1 ENST00000262304 human ensembl 74_37 -1 known frame_shift_del c.11040 p.L3681fs 1.000 prints_PKD_1 pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 189 0 0 160 34 17.5258 MAZ 0 genome.wustl.edu 37 16 29821017 29821017 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 29821017 29821017 C - DEL MAZ ENST00000219782 human ensembl 74_37 +1 known frame_shift_del c.1436 p.P481fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 29 0 0 13 5 27.7778 ZNF48 0 genome.wustl.edu 37 16 30409310 30409310 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 30409310 30409310 C - DEL ZNF48 ENST00000320159 human ensembl 74_37 +1 known frame_shift_del c.739 p.R249fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 71 0 0 73 18 19.7802 CREBBP 0 genome.wustl.edu 37 16 3817721 3817721 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 3817721 3817721 T - DEL CREBBP ENST00000262367 human ensembl 74_37 -1 known frame_shift_del c.3250 p.I1084fs 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 107 0 0 100 28 21.875 UBN1 0 genome.wustl.edu 37 16 4909908 4909908 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 4909908 4909908 A - DEL UBN1 ENST00000262376 human ensembl 74_37 +1 known frame_shift_del c.610 p.D206fs 1.000 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 82 0 0 84 25 22.9358 CKLF 0 genome.wustl.edu 37 16 66599895 66599895 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 66599895 66599895 A - DEL CKLF ENST00000264001 human ensembl 74_37 +1 known frame_shift_del c.440 p.E150fs 0.164 NULL NULL - no_errors CKLF HGNC ENSG00000217555 68 0 0 72 8 10 HSD11B2 0 genome.wustl.edu 37 16 67470245 67470245 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 67470245 67470245 G - DEL HSD11B2 ENST00000326152 human ensembl 74_37 +1 known frame_shift_del c.758 p.V255fs 1.000 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH - no_errors HSD11B2 HGNC ENSG00000176387 199 0 0 203 32 13.617 NARFL 0 genome.wustl.edu 37 16 784278 784278 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 784278 784278 G - DEL NARFL ENST00000251588 human ensembl 74_37 -1 known frame_shift_del c.644 p.P215fs 1.000 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC ENSG00000103245 100 0 0 94 28 22.9508 SPATA2L 0 genome.wustl.edu 37 16 89764374 89764374 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 16 89764374 89764374 G - DEL SPATA2L ENST00000289805 human ensembl 74_37 -1 known frame_shift_del c.643 p.R215fs 0.010 NULL NULL - no_errors SPATA2L HGNC ENSG00000158792 44 0 0 29 10 25.641 SCARF1 0 genome.wustl.edu 37 17 1542119 1542119 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 1542119 1542119 G - DEL SCARF1 ENST00000263071 human ensembl 74_37 -1 known frame_shift_del c.1345 p.R449fs 0.024 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 41 0 0 35 7 16.6667 MYO15A 0 genome.wustl.edu 37 17 18024983 18024983 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 18024983 18024983 C - DEL MYO15A ENST00000205890 human ensembl 74_37 +1 known frame_shift_del c.2869 p.P958fs 0.190 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 36 0 0 31 6 16.2162 LLGL1 0 genome.wustl.edu 37 17 18138798 18138799 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 18138798 18138799 - G INS LLGL1 ENST00000316843 human ensembl 74_37 +1 known frame_shift_ins c.1299_1300 p.R435fs 0.914:1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC ENSG00000131899 106 0 0 85 21 19.8113 KSR1 0 genome.wustl.edu 37 17 25910016 25910016 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 25910016 25910016 C - DEL KSR1 ENST00000319524 human ensembl 74_37 +1 known frame_shift_del c.865 p.P291fs 0.999 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 24 0 0 20 6 23.0769 CLUH 0 genome.wustl.edu 37 17 2601712 2601713 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 2601712 2601713 - C INS CLUH ENST00000435359 human ensembl 74_37 -1 known frame_shift_ins c.1325_1324 p.D442fs 1.000:1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 61 0 0 57 13 18.5714 SLC46A1 0 genome.wustl.edu 37 17 26732939 26732939 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 26732939 26732939 C - DEL SLC46A1 ENST00000440501 human ensembl 74_37 -1 known frame_shift_del c.194 p.G65fs 0.287 pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC46A1 HGNC ENSG00000076351 19 0 0 30 5 14.2857 ANKRD13B 0 genome.wustl.edu 37 17 27938644 27938644 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 27938644 27938644 G - DEL ANKRD13B ENST00000394859 human ensembl 74_37 +1 known frame_shift_del c.952 p.G319fs 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13B HGNC ENSG00000198720 101 0 0 87 14 13.8614 ATAD5 0 genome.wustl.edu 37 17 29220775 29220776 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 29220775 29220776 - A INS ATAD5 ENST00000321990 human ensembl 74_37 +1 known frame_shift_ins c.4904_4905 p.C1638fs 0.972:0.973 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 191 0 0 159 51 24.2857 OR1A2 0 genome.wustl.edu 37 17 3101283 3101283 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 3101283 3101283 C - DEL OR1A2 ENST00000381951 human ensembl 74_37 +1 known frame_shift_del c.471 p.H159fs 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A2 HGNC ENSG00000172150 108 0 0 104 22 17.4603 ACACA 0 genome.wustl.edu 37 17 35536292 35536292 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 35536292 35536292 G - DEL ACACA ENST00000353139 human ensembl 74_37 -1 known frame_shift_del c.4988 p.P1663fs 1.000 NULL 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 63 0 0 72 10 12.1951 ITGAE 0 genome.wustl.edu 37 17 3655042 3655042 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 3655042 3655042 C - DEL ITGAE ENST00000263087 human ensembl 74_37 -1 known frame_shift_del c.1795 p.A599fs 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 114 0 0 109 20 15.5039 TCAP 0 genome.wustl.edu 37 17 37822279 37822279 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 37822279 37822279 C - DEL TCAP ENST00000309889 human ensembl 74_37 +1 known frame_shift_del c.421 p.P142fs 1.000 pfam_Telethonin pfam_Telethonin - no_errors TCAP HGNC ENSG00000173991 103 0 0 133 27 16.875 ATP2A3 0 genome.wustl.edu 37 17 3845918 3845919 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 3845918 3845919 - C INS ATP2A3 ENST00000359983 human ensembl 74_37 -1 known frame_shift_ins c.1527_1526 p.S510fs 1.000:1.000 superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_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_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A3 HGNC ENSG00000074370 81 0 0 89 16 15.2381 KAT2A 0 genome.wustl.edu 37 17 40265752 40265752 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 40265752 40265752 G - DEL KAT2A ENST00000225916 human ensembl 74_37 -1 known frame_shift_del c.2429 p.P810fs 1.000 pirsf_Hist_acetylase_PCAF,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain - no_errors KAT2A HGNC ENSG00000108773 65 0 0 65 13 16.6667 HSPB9 0 genome.wustl.edu 37 17 40274889 40274891 + In_Frame_Del DEL CTT CTT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 40274889 40274891 CTT - DEL HSPB9 ENST00000355067 human ensembl 74_37 +1 known in_frame_del c.21_23 p.F8in_frame_del 0.569:0.632:0.913 NULL pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom - no_errors HSPB9 HGNC ENSG00000197723 54 0 0 53 11 17.1875 COASY 0 genome.wustl.edu 37 17 40716115 40716115 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 40716115 40716115 C - DEL COASY ENST00000590958 human ensembl 74_37 +1 known frame_shift_del c.924 p.S310fs 1.000 pfam_Cyt_trans-like pfam_Depp_CoAkinase,pfam_Cyt_trans-like,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase - no_errors COASY HGNC ENSG00000068120 52 0 0 46 21 31.3433 CAMTA2 0 genome.wustl.edu 37 17 4875738 4875738 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 4875738 4875738 G - DEL CAMTA2 ENST00000414043 human ensembl 74_37 -1 known frame_shift_del c.2666 p.P889fs 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 46 0 0 20 13 39.3939 KIF1C 0 genome.wustl.edu 37 17 4923869 4923869 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 4923869 4923869 C - DEL KIF1C ENST00000320785 human ensembl 74_37 +1 known frame_shift_del c.1833 p.P613fs 0.983 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 106 0 0 112 15 11.811 ANKFN1 0 genome.wustl.edu 37 17 54428180 54428181 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 54428180 54428181 - A INS ANKFN1 ENST00000318698 human ensembl 74_37 +1 known frame_shift_ins c.251_252 p.H87fs 0.987:0.976 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 89 0 0 127 22 14.7651 BZRAP1 0 genome.wustl.edu 37 17 56387419 56387424 + In_Frame_Del DEL TCCTCT TCCTCT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TCCTCT TCCTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 56387419 56387424 TCCTCT - DEL BZRAP1 ENST00000355701 human ensembl 74_37 -1 known in_frame_del c.3800_3795 p.EE1269in_frame_del 0.998:1.000:0.998:0.997:0.996:0.994 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 82 0 0 84 18 17.6471 RNF43 0 genome.wustl.edu 37 17 56437530 56437531 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 56437530 56437531 - G INS RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_ins c.932_931 p.L311fs 1.000:1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 140 0 0 138 25 15.3374 EFNB3 0 genome.wustl.edu 37 17 7611436 7611436 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 7611436 7611436 C - DEL EFNB3 ENST00000226091 human ensembl 74_37 +1 known frame_shift_del c.283 p.P96fs 0.825 pfam_Ephrin,superfamily_Cupredoxin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB3 HGNC ENSG00000108947 226 0 0 174 36 17.1429 DNAH2 0 genome.wustl.edu 37 17 7734796 7734796 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 7734796 7734796 C - DEL DNAH2 ENST00000389173 human ensembl 74_37 +1 known frame_shift_del c.12548 p.L4185fs 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 45 0 0 46 9 16.3636 CBX8 0 genome.wustl.edu 37 17 77768618 77768618 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 77768618 77768618 C - DEL CBX8 ENST00000269385 human ensembl 74_37 -1 known frame_shift_del c.986 p.G329fs 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC ENSG00000141570 42 0 0 46 15 24.5902 CNTROB 0 genome.wustl.edu 37 17 7843518 7843519 + Frame_Shift_Del DEL GA GA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 17 7843518 7843519 GA - DEL CNTROB ENST00000380262 human ensembl 74_37 +1 known frame_shift_del c.1269_1270 p.D427fs 1.000:0.999 NULL NULL - no_errors CNTROB HGNC ENSG00000170037 124 0 0 138 13 8.60927 CTAGE1 0 genome.wustl.edu 37 18 19995706 19995706 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 19995706 19995706 G - DEL CTAGE1 ENST00000391403 human ensembl 74_37 -1 known frame_shift_del c.2069 p.P690fs 0.300 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 119 0 0 158 28 15.0538 TRAPPC8 0 genome.wustl.edu 37 18 29453418 29453418 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 29453418 29453418 A - DEL TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known frame_shift_del c.2037 p.F679fs 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 34 0 0 40 13 24.5283 SOCS6 0 genome.wustl.edu 37 18 67992095 67992096 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 18 67992095 67992096 - A INS SOCS6 ENST00000397942 human ensembl 74_37 +1 known frame_shift_ins c.191_192 p.N66fs 0.998:0.000 NULL pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC ENSG00000170677 85 0 0 121 16 11.6788 ZNF44 0 genome.wustl.edu 37 19 12384448 12384448 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 12384448 12384448 A - DEL ZNF44 ENST00000393337 human ensembl 74_37 -1 known frame_shift_del c.766 p.W256fs 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF44 HGNC ENSG00000197857 110 0 0 117 27 18.75 LPHN1 0 genome.wustl.edu 37 19 14263660 14263660 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 14263660 14263660 C - DEL LPHN1 ENST00000340736 human ensembl 74_37 -1 known frame_shift_del c.3374 p.G1125fs 0.995 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 156 0 0 129 38 22.7545 PKN1 0 genome.wustl.edu 37 19 14562740 14562741 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 14562740 14562741 - C INS PKN1 ENST00000342216 human ensembl 74_37 +1 known frame_shift_ins c.1088_1089 p.F366fs 0.996:0.060 superfamily_C2_dom pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN1 HGNC ENSG00000123143 33 0 0 43 6 12.2449 NCAN 0 genome.wustl.edu 37 19 19337661 19337661 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 19337661 19337661 G - DEL NCAN ENST00000252575 human ensembl 74_37 +1 known frame_shift_del c.1439 p.R482fs 0.391 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 71 0 0 92 13 12.381 ZNF506 0 genome.wustl.edu 37 19 19906351 19906351 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 19906351 19906351 T - DEL ZNF506 ENST00000443905 human ensembl 74_37 -1 known frame_shift_del c.345 p.G116fs 0.861 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF506 HGNC ENSG00000081665 69 0 0 86 21 19.6262 ZNF90 0 genome.wustl.edu 37 19 20228702 20228702 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 20228702 20228702 A - DEL ZNF90 ENST00000418063 human ensembl 74_37 +1 known frame_shift_del c.339 p.G116fs 0.054 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 ZNF90 HGNC ENSG00000213988 21 0 0 35 14 28.5714 ZNF431 0 genome.wustl.edu 37 19 21365724 21365725 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 21365724 21365725 - A INS ZNF431 ENST00000311048 human ensembl 74_37 +1 known frame_shift_ins c.618_619 p.C208fs 0.009:0.005 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF431 HGNC ENSG00000196705 49 0 0 59 11 15.7143 MATK 0 genome.wustl.edu 37 19 3778367 3778367 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 3778367 3778367 G - DEL MATK ENST00000395045 human ensembl 74_37 -1 known frame_shift_del c.1341 p.E448fs 0.876 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors MATK HGNC ENSG00000007264 75 0 0 91 19 17.2727 ZNF540 0 genome.wustl.edu 37 19 38102620 38102620 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 38102620 38102620 A - DEL ZNF540 ENST00000316433 human ensembl 74_37 +1 known frame_shift_del c.439 p.M149fs 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 ZNF540 HGNC ENSG00000171817 122 0 0 121 40 24.8447 SIPA1L3 0 genome.wustl.edu 37 19 38610300 38610300 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 38610300 38610300 G - DEL SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known frame_shift_del c.2646 p.V884fs 0.999 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 126 0 0 137 17 11.039 KCNK6 0 genome.wustl.edu 37 19 38817914 38817915 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 38817914 38817915 - C INS KCNK6 ENST00000263372 human ensembl 74_37 +1 known frame_shift_ins c.813_814 p.P273fs 1.000:1.000 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK2,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK1 - no_errors KCNK6 HGNC ENSG00000099337 120 0 0 121 12 9.02256 DMWD 0 genome.wustl.edu 37 19 46289148 46289148 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 46289148 46289148 C - DEL DMWD ENST00000270223 human ensembl 74_37 -1 known frame_shift_del c.1606 p.A536fs 0.041 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMWD HGNC ENSG00000185800 128 0 0 121 14 10.3704 DHX34 0 genome.wustl.edu 37 19 47861245 47861247 + In_Frame_Del DEL CCT CCT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 47861245 47861247 CCT - DEL DHX34 ENST00000328771 human ensembl 74_37 +1 known in_frame_del c.1140_1142 p.L382in_frame_del 1.000:1.000:1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 101 0 0 78 11 12.3596 EHD2 0 genome.wustl.edu 37 19 48244287 48244287 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 48244287 48244287 G - DEL EHD2 ENST00000263277 human ensembl 74_37 +1 known frame_shift_del c.1230 p.G412fs 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 128 0 0 133 11 7.63889 PPP1R15A 0 genome.wustl.edu 37 19 49377242 49377242 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 49377242 49377242 G - DEL PPP1R15A ENST00000200453 human ensembl 74_37 +1 known frame_shift_del c.752 p.R251fs 0.001 NULL pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15A HGNC ENSG00000087074 82 0 0 65 20 23.5294 CPT1C 0 genome.wustl.edu 37 19 50200614 50200615 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 50200614 50200615 - C INS CPT1C ENST00000323446 human ensembl 74_37 +1 known frame_shift_ins c.173_174 p.L60fs 1.000:1.000 NULL pfam_Carn_acyl_trans - no_errors CPT1C HGNC ENSG00000169169 64 0 0 76 21 21.6495 MED25 0 genome.wustl.edu 37 19 50333113 50333113 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 50333113 50333113 C - DEL MED25 ENST00000312865 human ensembl 74_37 +1 known frame_shift_del c.596 p.P201fs 0.380 pfam_Mediator_Med25_VWA pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 20 0 0 20 11 35.4839 SHANK1 0 genome.wustl.edu 37 19 51192559 51192559 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 51192559 51192559 G - DEL SHANK1 ENST00000391813 human ensembl 74_37 -1 known frame_shift_del c.103 p.H35fs 0.020 NULL pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors SHANK1 HGNC ENSG00000161681 51 0 0 63 9 12.5 SIGLEC14 0 genome.wustl.edu 37 19 52147171 52147171 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 52147171 52147171 T - DEL SIGLEC14 ENST00000360844 human ensembl 74_37 -1 known frame_shift_del c.873 p.A292fs 0.004 pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC14 HGNC ENSG00000254415 32 0 0 19 9 32.1429 VAV1 0 genome.wustl.edu 37 19 6832176 6832178 + In_Frame_Del DEL GAA GAA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 6832176 6832178 GAA - DEL VAV1 ENST00000602142 human ensembl 74_37 +1 known in_frame_del c.1473_1475 p.K494in_frame_del 1.000:1.000:1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 44 0 0 55 7 11.2903 MUC16 0 genome.wustl.edu 37 19 9049778 9049778 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 9049778 9049778 A - DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_del c.31853 p.F10618fs 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 105 0 0 95 20 17.3913 MUC16 0 genome.wustl.edu 37 19 9064310 9064310 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 9064310 9064310 G - DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_del c.23136 p.S7713fs 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 85 0 0 85 10 10.5263 MUC16 0 genome.wustl.edu 37 19 9083008 9083008 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 19 9083008 9083008 T - DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_del c.8807 p.N2936fs 0.007 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 81 0 0 85 16 15.8416 SLC9A4 0 genome.wustl.edu 37 2 103149137 103149137 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 103149137 103149137 A - DEL SLC9A4 ENST00000295269 human ensembl 74_37 +1 known frame_shift_del c.2387 p.K798fs 0.597 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 37 0 0 34 7 17.0732 IL37 0 genome.wustl.edu 37 2 113671382 113671382 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 113671382 113671382 C - DEL IL37 ENST00000263326 human ensembl 74_37 +1 known frame_shift_del c.96 p.L34fs 0.000 NULL pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1,prints_IL-1RA/IL-36 - no_errors IL37 HGNC ENSG00000125571 136 0 0 223 14 5.90717 ARHGAP15 0 genome.wustl.edu 37 2 144276877 144276877 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 144276877 144276877 A - DEL ARHGAP15 ENST00000295095 human ensembl 74_37 +1 known frame_shift_del c.869 p.N291fs 1.000 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP15 HGNC ENSG00000075884 88 0 0 119 7 5.55556 PKP4 0 genome.wustl.edu 37 2 159522968 159522969 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 159522968 159522969 - C INS PKP4 ENST00000389759 human ensembl 74_37 +1 known frame_shift_ins c.2621_2622 p.I876fs 1.000:0.992 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 132 0 0 129 23 15.1316 HOXD13 0 genome.wustl.edu 37 2 176957922 176957922 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 176957922 176957922 C - DEL HOXD13 ENST00000392539 human ensembl 74_37 +1 putative frame_shift_del c.304 p.P103fs 0.844 pfam_HoxA13_N pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXD13 HGNC ENSG00000128714 46 0 0 43 10 18.8679 RBM45 0 genome.wustl.edu 37 2 178988920 178988920 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 178988920 178988920 A - DEL RBM45 ENST00000286070 human ensembl 74_37 +1 known frame_shift_del c.1135 p.A382fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM45 HGNC ENSG00000155636 70 0 0 101 17 14.4068 COL5A2 0 genome.wustl.edu 37 2 189916092 189916092 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 189916092 189916092 G - DEL COL5A2 ENST00000374866 human ensembl 74_37 -1 known frame_shift_del c.2885 p.P962fs 1.000 NULL 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 COL5A2 HGNC ENSG00000204262 74 0 0 83 14 14.433 BOLL 0 genome.wustl.edu 37 2 198643760 198643760 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 198643760 198643760 A - DEL BOLL ENST00000321801 human ensembl 74_37 -1 known frame_shift_del c.196 p.S66fs 1.000 pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors BOLL HGNC ENSG00000152430 36 0 0 43 4 8.51064 RAPH1 0 genome.wustl.edu 37 2 204324708 204324710 + In_Frame_Del DEL AAG AAG - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 204324708 204324710 AAG - DEL RAPH1 ENST00000374493 human ensembl 74_37 -1 known in_frame_del c.1170_1168 p.L390in_frame_del 0.701:1.000:1.000 pfam_Ras-assoc,superfamily_Kinase-like_dom,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 51 0 0 66 8 10.8108 PLCD4 0 genome.wustl.edu 37 2 219480727 219480728 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 219480727 219480728 - A INS PLCD4 ENST00000417849 human ensembl 74_37 +1 known frame_shift_ins c.123_124 p.N41fs 1.000:1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD4 HGNC ENSG00000115556 53 0 0 60 20 25 NYAP2 0 genome.wustl.edu 37 2 226447072 226447072 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 226447072 226447072 C - DEL NYAP2 ENST00000272907 human ensembl 74_37 +1 known frame_shift_del c.939 p.K316fs 0.002 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 89 0 0 72 29 28.7129 OTOS 0 genome.wustl.edu 37 2 241078682 241078682 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 241078682 241078682 C - DEL OTOS ENST00000319460 human ensembl 74_37 -1 known frame_shift_del c.175 p.A59fs 1.000 NULL NULL - no_errors OTOS HGNC ENSG00000178602 151 0 0 141 16 10.1911 AGXT 0 genome.wustl.edu 37 2 241808308 241808308 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 241808308 241808308 C - DEL AGXT ENST00000307503 human ensembl 74_37 +1 known frame_shift_del c.26 p.K12fs 0.001 superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT HGNC ENSG00000172482 39 0 0 30 7 18.9189 ACP1 0 genome.wustl.edu 37 2 272080 272081 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 272080 272081 - C INS ACP1 ENST00000272065 human ensembl 74_37 +1 known frame_shift_ins c.161_162 p.D57fs 1.000:1.000 pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_phospatase/Ars_reductase pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase - no_errors ACP1 HGNC ENSG00000143727 101 0 0 130 32 19.7531 VIT 0 genome.wustl.edu 37 2 37032748 37032749 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 37032748 37032749 - T INS VIT ENST00000379242 human ensembl 74_37 +1 known frame_shift_ins c.1330_1331 p.E445fs 0.863:0.960 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 90 0 0 76 27 26.2136 CEBPZ 0 genome.wustl.edu 37 2 37454908 37454908 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 37454908 37454908 T - DEL CEBPZ ENST00000234170 human ensembl 74_37 -1 known frame_shift_del c.1428 p.D477fs 1.000 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 31 0 0 39 8 17.0213 OXER1 0 genome.wustl.edu 37 2 42991089 42991089 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 42991089 42991089 C - DEL OXER1 ENST00000378661 human ensembl 74_37 -1 known frame_shift_del c.231 p.S78fs 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OXER1 HGNC ENSG00000162881 61 0 0 47 14 22.9508 ZFP36L2 0 genome.wustl.edu 37 2 43452623 43452623 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 43452623 43452623 C - DEL ZFP36L2 ENST00000282388 human ensembl 74_37 -1 known frame_shift_del c.320 p.G107fs 1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 26 0 0 23 6 20.6897 SIX3 0 genome.wustl.edu 37 2 45169458 45169458 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 45169458 45169458 C - DEL SIX3 ENST00000260653 human ensembl 74_37 +1 known frame_shift_del c.215 p.P74fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX3 HGNC ENSG00000138083 12 0 0 28 6 17.6471 ACTG2 0 genome.wustl.edu 37 2 74140744 74140745 + Frame_Shift_Ins INS - - AG TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 74140744 74140745 - AG INS ACTG2 ENST00000345517 human ensembl 74_37 +1 known frame_shift_ins c.584_585 p.G198fs 1.000:0.999 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTG2 HGNC ENSG00000163017 94 0 0 100 21 17.3554 LIPT1 0 genome.wustl.edu 37 2 99778781 99778781 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 2 99778781 99778781 A - DEL LIPT1 ENST00000340066 human ensembl 74_37 +1 known frame_shift_del c.361 p.K123fs 0.994 pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase - no_errors LIPT1 HGNC ENSG00000144182 55 0 0 52 8 13.3333 CRNKL1 0 genome.wustl.edu 37 20 20024141 20024143 + In_Frame_Del DEL CTT CTT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 20024141 20024143 CTT - DEL CRNKL1 ENST00000377340 human ensembl 74_37 -1 known in_frame_del c.1450_1448 p.E483in_frame_del 1.000:0.993:1.000 NULL pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 189 0 0 200 35 14.8936 LPIN3 0 genome.wustl.edu 37 20 39977299 39977299 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 39977299 39977299 G - DEL LPIN3 ENST00000373257 human ensembl 74_37 +1 known frame_shift_del c.329 p.G112fs 0.917 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 66 0 0 65 6 8.4507 STAU1 0 genome.wustl.edu 37 20 47739699 47739699 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 47739699 47739699 T - DEL STAU1 ENST00000371856 human ensembl 74_37 -1 known frame_shift_del c.896 p.K299fs 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU1 HGNC ENSG00000124214 57 0 0 51 16 23.8806 KCNB1 0 genome.wustl.edu 37 20 47989890 47989891 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 47989890 47989891 - G INS KCNB1 ENST00000371741 human ensembl 74_37 -1 known frame_shift_ins c.2207_2206 p.R736fs 1.000:1.000 prints_K_chnl_volt-dep_Kv2.1 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 102 0 0 105 13 11.0169 ATP9A 0 genome.wustl.edu 37 20 50346454 50346454 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 50346454 50346454 C - DEL ATP9A ENST00000338821 human ensembl 74_37 -1 known frame_shift_del c.132 p.H45fs 0.976 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 156 0 0 147 32 17.8771 SYCP2 0 genome.wustl.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 20 58467047 58467047 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.2362 p.M788fs 0.029 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 23 0 0 29 7 19.4444 BTG3 0 genome.wustl.edu 37 21 18966594 18966595 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 18966594 18966595 - T INS BTG3 ENST00000339775 human ensembl 74_37 -1 known frame_shift_ins c.708_707 p.P237fs 0.903:0.980 NULL pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors BTG3 HGNC ENSG00000154640 63 0 0 74 14 15.9091 BRWD1 0 genome.wustl.edu 37 21 40558989 40558989 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 40558989 40558989 A - DEL BRWD1 ENST00000333229 human ensembl 74_37 -1 known frame_shift_del c.6926 p.L2309fs 0.001 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 62 0 0 86 23 21.1009 TSPEAR 0 genome.wustl.edu 37 21 45987773 45987773 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 45987773 45987773 G - DEL TSPEAR ENST00000323084 human ensembl 74_37 -1 known frame_shift_del c.199 p.R67fs 0.978 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 69 0 0 102 14 12.069 KRTAP10-5 0 genome.wustl.edu 37 21 46000366 46000366 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 46000366 46000366 G - DEL KRTAP10-5 ENST00000400372 human ensembl 74_37 -1 known frame_shift_del c.90 p.C31fs 0.957 NULL NULL - no_errors KRTAP10-5 HGNC ENSG00000241123 138 0 0 135 37 21.5116 FTCD 0 genome.wustl.edu 37 21 47571522 47571523 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 21 47571522 47571523 - T INS FTCD ENST00000359679 human ensembl 74_37 -1 known frame_shift_ins c.586_585 p.A195fs 1.000:1.000 pfam_Formiminotransferase_C,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat - no_errors FTCD HGNC ENSG00000160282 140 0 0 129 29 18.3544 PATZ1 0 genome.wustl.edu 37 22 31741055 31741056 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 31741055 31741056 - G INS PATZ1 ENST00000266269 human ensembl 74_37 -1 known frame_shift_ins c.534_533 p.G179fs 0.981:1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC ENSG00000100105 136 0 0 124 22 15.0685 SH3BP1 0 genome.wustl.edu 37 22 38051314 38051314 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 38051314 38051314 C - DEL SH3BP1 ENST00000357436 human ensembl 74_37 +1 known frame_shift_del c.1729 p.Q579fs 0.981 NULL pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 31 0 0 33 7 17.5 TRIOBP 0 genome.wustl.edu 37 22 38130884 38130885 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 38130884 38130885 - C INS TRIOBP ENST00000406386 human ensembl 74_37 +1 known frame_shift_ins c.4541_4542 p.E1517fs 0.000:0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 108 0 0 79 11 12.2222 CBX6 0 genome.wustl.edu 37 22 39263028 39263028 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 39263028 39263028 C - DEL CBX6 ENST00000407418 human ensembl 74_37 -1 known frame_shift_del c.425 p.G142fs 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX6 HGNC ENSG00000183741 28 0 0 37 13 26 DNAJB7 0 genome.wustl.edu 37 22 41257115 41257115 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 41257115 41257115 T - DEL DNAJB7 ENST00000307221 human ensembl 74_37 -1 known frame_shift_del c.884 p.K295fs 0.998 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ConA-like_lec_gl_sf,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB7 HGNC ENSG00000172404 45 0 0 64 13 16.8831 TCF20 0 genome.wustl.edu 37 22 42564716 42564716 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 42564716 42564716 G - DEL TCF20 ENST00000359486 human ensembl 74_37 -1 known frame_shift_del c.5826 p.L1943fs 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 18 0 0 16 7 30.4348 CELSR1 0 genome.wustl.edu 37 22 46931227 46931227 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 22 46931227 46931227 C - DEL CELSR1 ENST00000262738 human ensembl 74_37 -1 known frame_shift_del c.1841 p.G614fs 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 79 0 0 50 26 34.2105 SLC6A11 0 genome.wustl.edu 37 3 10858173 10858173 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 10858173 10858173 C - DEL SLC6A11 ENST00000254488 human ensembl 74_37 +1 known frame_shift_del c.223 p.R75fs 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3 - no_errors SLC6A11 HGNC ENSG00000132164 44 0 0 32 6 15.7895 SLC9C1 0 genome.wustl.edu 37 3 112005610 112005610 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 112005610 112005610 A - DEL SLC9C1 ENST00000305815 human ensembl 74_37 -1 known frame_shift_del c.29 p.F10fs 0.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 28 0 0 28 8 22.2222 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 88 0 0 77 13 14.4444 IGSF11 0 genome.wustl.edu 37 3 118623607 118623608 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 118623607 118623608 - A INS IGSF11 ENST00000393775 human ensembl 74_37 -1 known frame_shift_ins c.742_741 p.G247fs 1.000:1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF11 HGNC ENSG00000144847 219 0 0 238 25 9.5057 GOLGB1 0 genome.wustl.edu 37 3 121409851 121409852 + Frame_Shift_Del DEL TC TC - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 121409851 121409852 TC - DEL GOLGB1 ENST00000340645 human ensembl 74_37 -1 known frame_shift_del c.8345_8344 p.D2782fs 0.003:0.001 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 71 0 0 73 18 19.7802 AMOTL2 0 genome.wustl.edu 37 3 134077461 134077462 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 134077461 134077462 - G INS AMOTL2 ENST00000249883 human ensembl 74_37 -1 known frame_shift_ins c.2205_2204 p.D736fs 0.000:0.001 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 82 0 0 58 11 15.942 CNTN6 0 genome.wustl.edu 37 3 1414122 1414122 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 1414122 1414122 A - DEL CNTN6 ENST00000350110 human ensembl 74_37 +1 known frame_shift_del c.1632 p.G547fs 0.311 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN6 HGNC ENSG00000134115 47 0 0 52 14 21.2121 ANKRD28 0 genome.wustl.edu 37 3 15756165 15756166 + Splice_Site INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 15756165 15756166 - G INS ANKRD28 ENST00000383777 human ensembl 74_37 -1 known splice_site_ins c.1006-3_1006-2 e9-2 1.000:0.998 - - - no_errors ANKRD28 HGNC ENSG00000206560 28 0 0 23 13 36.1111 EIF5A2 0 genome.wustl.edu 37 3 170624844 170624844 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 170624844 170624844 T - DEL EIF5A2 ENST00000295822 human ensembl 74_37 -1 known frame_shift_del c.204 p.K68fs 0.994 superfamily_Translation_prot_SH3-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,pfam_KOW,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5A2 HGNC ENSG00000163577 41 0 0 57 10 14.9254 DCUN1D1 0 genome.wustl.edu 37 3 182683528 182683528 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 182683528 182683528 G - DEL DCUN1D1 ENST00000292782 human ensembl 74_37 -1 known frame_shift_del c.17 p.S6fs 1.000 superfamily_UBA-like pfam_PONY_dom,superfamily_UBA-like - no_errors DCUN1D1 HGNC ENSG00000043093 44 0 0 70 12 14.6341 EIF4G1 0 genome.wustl.edu 37 3 184043088 184043088 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 184043088 184043088 A - DEL EIF4G1 ENST00000352767 human ensembl 74_37 +1 known frame_shift_del c.2909 p.I972fs 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 144 0 0 117 10 7.87402 ZNF385D 0 genome.wustl.edu 37 3 21465454 21465454 + Splice_Site DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 21465454 21465454 C - DEL ZNF385D ENST00000281523 human ensembl 74_37 -1 known splice_site_del c.954+1 e7+1 1.000 - - - no_errors ZNF385D HGNC ENSG00000151789 84 0 0 80 19 19.1919 CLASP2 0 genome.wustl.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 33602361 33602361 T - DEL CLASP2 ENST00000399362 human ensembl 74_37 -1 known frame_shift_del c.2890 p.M964fs 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 123 0 0 153 32 17.2973 DLEC1 0 genome.wustl.edu 37 3 38104179 38104179 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 38104179 38104179 A - DEL DLEC1 ENST00000346219 human ensembl 74_37 +1 known frame_shift_del c.981 p.N329fs 0.030 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 72 0 0 67 18 21.1765 ULK4 0 genome.wustl.edu 37 3 41860985 41860985 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 41860985 41860985 T - DEL ULK4 ENST00000301831 human ensembl 74_37 -1 known frame_shift_del c.1778 p.K593fs 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ULK4 HGNC ENSG00000168038 53 0 0 56 13 18.8406 XCR1 0 genome.wustl.edu 37 3 46063400 46063400 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 46063400 46063400 A - DEL XCR1 ENST00000309285 human ensembl 74_37 -1 known frame_shift_del c.40 p.Y14fs 0.080 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 54 0 0 78 12 13.3333 COL7A1 0 genome.wustl.edu 37 3 48627680 48627681 + Frame_Shift_Del DEL CT CT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 48627680 48627681 CT - DEL COL7A1 ENST00000328333 human ensembl 74_37 -1 known frame_shift_del c.2016_2015 p.E672fs 0.544:0.979 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 49 0 0 41 10 19.6078 FOXP1 0 genome.wustl.edu 37 3 71179761 71179762 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 71179761 71179762 - A INS FOXP1 ENST00000491238 human ensembl 74_37 -1 putative frame_shift_ins c.74_73 p.Y25fs 1.000:1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 47 0 0 67 11 14.1026 PROK2 0 genome.wustl.edu 37 3 71821968 71821968 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 71821968 71821968 A - DEL PROK2 ENST00000295619 human ensembl 74_37 -1 known frame_shift_del c.297 p.F99fs 0.619 pfam_Prokineticin_domain pfam_Prokineticin_domain - no_errors PROK2 HGNC ENSG00000163421 49 0 0 55 13 19.1176 HTR1F 0 genome.wustl.edu 37 3 88040823 88040823 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 88040823 88040823 T - DEL HTR1F ENST00000319595 human ensembl 74_37 +1 known frame_shift_del c.924 p.F310fs 0.753 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors HTR1F HGNC ENSG00000179097 38 0 0 29 12 29.2683 OGG1 0 genome.wustl.edu 37 3 9798961 9798961 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 9798961 9798961 C - DEL OGG1 ENST00000302003 human ensembl 74_37 +1 known frame_shift_del c.1182 p.Q396fs 0.227 NULL pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg - no_errors OGG1 HGNC ENSG00000114026 58 0 0 78 16 17.0213 DCBLD2 0 genome.wustl.edu 37 3 98538142 98538143 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 3 98538142 98538143 - T INS DCBLD2 ENST00000326857 human ensembl 74_37 -1 known frame_shift_ins c.991_990 p.A330fs 1.000:1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 27 0 0 30 8 21.0526 BANK1 0 genome.wustl.edu 37 4 102751218 102751218 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 102751218 102751218 A - DEL BANK1 ENST00000322953 human ensembl 74_37 +1 known frame_shift_del c.324 p.S110fs 0.532 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 65 0 0 69 16 18.8235 ARSJ 0 genome.wustl.edu 37 4 114824638 114824639 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 114824638 114824639 - A INS ARSJ ENST00000315366 human ensembl 74_37 -1 known frame_shift_ins c.592_591 p.G197fs 1.000:1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 139 0 0 143 31 17.8161 TRAM1L1 0 genome.wustl.edu 37 4 118005517 118005517 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 118005517 118005517 T - DEL TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known frame_shift_del c.1033 p.R345fs 1.000 pirsf_Translocation_assoc_membrane pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 121 0 0 163 37 18.5 TRAM1L1 0 genome.wustl.edu 37 4 118006514 118006514 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 118006514 118006514 G - DEL TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known frame_shift_del c.36 p.V13fs 0.971 pirsf_Translocation_assoc_membrane pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 106 0 0 118 17 12.5926 TMA16 0 genome.wustl.edu 37 4 164428219 164428219 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 164428219 164428219 A - DEL TMA16 ENST00000358572 human ensembl 74_37 +1 known frame_shift_del c.38 p.V16fs 1.000 pfam_Tma16 pfam_Tma16 - no_errors TMA16 HGNC ENSG00000198498 15 0 0 11 5 31.25 KLKB1 0 genome.wustl.edu 37 4 187178504 187178504 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 187178504 187178504 A - DEL KLKB1 ENST00000264690 human ensembl 74_37 +1 known frame_shift_del c.1710 p.D572fs 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A - no_errors KLKB1 HGNC ENSG00000164344 150 0 0 179 33 15.566 HAUS3 0 genome.wustl.edu 37 4 2242634 2242634 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 2242634 2242634 T - DEL HAUS3 ENST00000243706 human ensembl 74_37 -1 known frame_shift_del c.40 p.I14fs 1.000 NULL NULL - no_errors HAUS3 HGNC ENSG00000214367 63 0 0 63 11 14.8649 C4orf6 0 genome.wustl.edu 37 4 5527159 5527160 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 5527159 5527160 - A INS C4orf6 ENST00000195455 human ensembl 74_37 +1 known frame_shift_ins c.102_103 p.N35fs 0.013:0.015 NULL NULL - no_errors C4orf6 HGNC ENSG00000082929 49 0 0 49 12 19.6721 CENPC 0 genome.wustl.edu 37 4 68384935 68384936 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 68384935 68384936 - T INS CENPC ENST00000273853 human ensembl 74_37 -1 known frame_shift_ins c.617_616 p.R206fs 1.000:1.000 NULL pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC HGNC ENSG00000145241 45 0 0 70 10 12.5 NPFFR2 0 genome.wustl.edu 37 4 73013327 73013327 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 73013327 73013327 A - DEL NPFFR2 ENST00000308744 human ensembl 74_37 +1 known frame_shift_del c.1367 p.R458fs 0.492 prints_NPFF_rcpt_2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 70 0 0 86 16 15.6863 SORCS2 0 genome.wustl.edu 37 4 7684595 7684595 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 7684595 7684595 A - DEL SORCS2 ENST00000507866 human ensembl 74_37 +1 known frame_shift_del c.1467 p.K490fs 0.636 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 28 0 0 27 6 18.1818 HNRNPDL 0 genome.wustl.edu 37 4 83348625 83348625 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 83348625 83348625 T - DEL HNRNPDL ENST00000295470 human ensembl 74_37 -1 known frame_shift_del c.867 p.K289fs 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPDL HGNC ENSG00000152795 36 0 0 45 11 19.6429 THAP9 0 genome.wustl.edu 37 4 83839022 83839023 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 83839022 83839023 - T INS THAP9 ENST00000302236 human ensembl 74_37 +1 known frame_shift_ins c.1657_1658 p.V555fs 0.982:0.978 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 55 0 0 60 16 21.0526 IBSP 0 genome.wustl.edu 37 4 88732888 88732888 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 4 88732888 88732888 G - DEL IBSP ENST00000226284 human ensembl 74_37 +1 known frame_shift_del c.780 p.E262fs 0.000 pfam_BSP_II pfam_BSP_II - no_errors IBSP HGNC ENSG00000029559 51 0 0 44 15 25.4237 LOX 0 genome.wustl.edu 37 5 121411177 121411178 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 121411177 121411178 - G INS LOX ENST00000231004 human ensembl 74_37 -1 known frame_shift_ins c.800_799 p.Q267fs 1.000:1.000 pfam_Lysyl_oxidase,prints_Lysyl_oxidase pfam_Lysyl_oxidase,prints_Lysyl_oxidase - no_errors LOX HGNC ENSG00000113083 94 0 0 99 19 16.1017 FSTL4 0 genome.wustl.edu 37 5 132534946 132534947 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 132534946 132534947 - C INS FSTL4 ENST00000265342 human ensembl 74_37 -1 known frame_shift_ins c.2370_2369 p.T791fs 0.000:0.001 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 47 0 0 44 7 13.7255 DNAH5 0 genome.wustl.edu 37 5 13766156 13766156 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 13766156 13766156 T - DEL DNAH5 ENST00000265104 human ensembl 74_37 -1 known frame_shift_del c.10030 p.S3344fs 0.326 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 116 0 0 135 37 21.5116 WDR55 0 genome.wustl.edu 37 5 140049102 140049102 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140049102 140049102 A - DEL WDR55 ENST00000358337 human ensembl 74_37 +1 known frame_shift_del c.1015 p.K341fs 1.000 pirsf_WD_repeat_p55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR55 HGNC ENSG00000120314 30 0 0 26 7 21.2121 PCDHGA3 0 genome.wustl.edu 37 5 140725049 140725050 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 140725049 140725050 - A INS PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known frame_shift_ins c.1449_1450 p.N483fs 0.048:0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 159 0 0 146 33 18.4358 ARAP3 0 genome.wustl.edu 37 5 141052414 141052415 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 141052414 141052415 - G INS ARAP3 ENST00000239440 human ensembl 74_37 -1 known frame_shift_ins c.1172_1171 p.Q391fs 0.039:0.035 NULL pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 28 0 0 21 6 22.2222 TRIO 0 genome.wustl.edu 37 5 14488156 14488156 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 14488156 14488156 C - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.7419 p.S2476fs 0.021 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 21 0 0 21 5 19.2308 LARP1 0 genome.wustl.edu 37 5 154173546 154173546 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 154173546 154173546 G - DEL LARP1 ENST00000336314 human ensembl 74_37 +1 known frame_shift_del c.824 p.G276fs 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 63 0 0 75 17 18.4783 CYFIP2 0 genome.wustl.edu 37 5 156731361 156731362 + Frame_Shift_Del DEL AT AT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 156731361 156731362 AT - DEL CYFIP2 ENST00000318218 human ensembl 74_37 +1 known frame_shift_del c.782_783 p.M262fs 1.000:1.000 pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 98 0 0 82 17 17.1717 CDHR2 0 genome.wustl.edu 37 5 176003134 176003134 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 176003134 176003134 C - DEL CDHR2 ENST00000261944 human ensembl 74_37 +1 known frame_shift_del c.1142 p.R383fs 0.405 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 83 0 0 75 9 10.7143 GPRIN1 0 genome.wustl.edu 37 5 176025071 176025072 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 176025071 176025072 - C INS GPRIN1 ENST00000303991 human ensembl 74_37 -1 known frame_shift_ins c.1765_1764 p.K588fs 0.273:0.940 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 114 0 0 121 33 21.4286 CDH10 0 genome.wustl.edu 37 5 24537693 24537693 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 24537693 24537693 T - DEL CDH10 ENST00000264463 human ensembl 74_37 -1 known frame_shift_del c.322 p.T108fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 64 0 0 69 11 13.75 PDZD2 0 genome.wustl.edu 37 5 32071517 32071518 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 32071517 32071518 - A INS PDZD2 ENST00000282493 human ensembl 74_37 +1 known frame_shift_ins c.2561_2562 p.D857fs 0.950:0.953 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 165 0 0 153 29 15.9341 PDZD2 0 genome.wustl.edu 37 5 32074529 32074529 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 32074529 32074529 C - DEL PDZD2 ENST00000282493 human ensembl 74_37 +1 known frame_shift_del c.3317 p.Q1108fs 0.079 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 125 0 0 115 30 20.6897 NIPBL 0 genome.wustl.edu 37 5 36985083 36985083 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 36985083 36985083 A - DEL NIPBL ENST00000282516 human ensembl 74_37 +1 known frame_shift_del c.1801 p.K603fs 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 57 0 0 68 13 16.0494 C5orf42 0 genome.wustl.edu 37 5 37180204 37180204 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 37180204 37180204 T - DEL C5orf42 ENST00000425232 human ensembl 74_37 -1 known frame_shift_del c.5652 p.E1885fs 0.418 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 36 0 0 41 11 21.1538 RICTOR 0 genome.wustl.edu 37 5 38945793 38945793 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 38945793 38945793 T - DEL RICTOR ENST00000296782 human ensembl 74_37 -1 known frame_shift_del c.4505 p.N1502fs 1.000 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 40 0 0 58 8 12.1212 RICTOR 0 genome.wustl.edu 37 5 38959950 38959950 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 38959950 38959950 A - DEL RICTOR ENST00000296782 human ensembl 74_37 -1 known frame_shift_del c.1982 p.L661fs 1.000 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 99 0 0 86 26 23.2143 PLK2 0 genome.wustl.edu 37 5 57753011 57753012 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 57753011 57753012 - A INS PLK2 ENST00000274289 human ensembl 74_37 -1 known frame_shift_ins c.1005_1004 p.L335fs 1.000:1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK2 HGNC ENSG00000145632 36 0 0 47 7 12.963 AP3B1 0 genome.wustl.edu 37 5 77334907 77334907 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 77334907 77334907 T - DEL AP3B1 ENST00000255194 human ensembl 74_37 -1 known frame_shift_del c.2769 p.K923fs 0.419 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 30 0 0 41 10 19.6078 MSH3 0 genome.wustl.edu 37 5 80088584 80088585 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 80088584 80088585 - A INS MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_ins c.2576_2577 p.N861fs 1.000:0.995 pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 31 0 0 42 12 22.2222 ZCCHC9 0 genome.wustl.edu 37 5 80600751 80600751 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 80600751 80600751 A - DEL ZCCHC9 ENST00000254037 human ensembl 74_37 +1 known frame_shift_del c.175 p.K60fs 0.997 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC9 HGNC ENSG00000131732 51 0 0 66 24 26.6667 CETN3 0 genome.wustl.edu 37 5 89701581 89701581 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 89701581 89701581 T - DEL CETN3 ENST00000283122 human ensembl 74_37 -1 known frame_shift_del c.189 p.A64fs 1.000 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN3 HGNC ENSG00000153140 56 0 0 65 18 21.6867 RHOBTB3 0 genome.wustl.edu 37 5 95116041 95116042 + Frame_Shift_Del DEL AA AA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 95116041 95116042 AA - DEL RHOBTB3 ENST00000379982 human ensembl 74_37 +1 known frame_shift_del c.1368_1369 p.K457fs 0.770:0.998 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,superfamily_P-loop_NTPase,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors RHOBTB3 HGNC ENSG00000164292 44 0 0 49 15 23.4375 CHD1 0 genome.wustl.edu 37 5 98236745 98236745 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 5 98236745 98236745 T - DEL CHD1 ENST00000284049 human ensembl 74_37 -1 known frame_shift_del c.629 p.K210fs 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 48 0 0 53 16 23.1884 ASCC3 0 genome.wustl.edu 37 6 101127558 101127558 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 101127558 101127558 T - DEL ASCC3 ENST00000369162 human ensembl 74_37 -1 known frame_shift_del c.2222 p.N741fs 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 58 0 0 40 12 23.0769 GCNT2 0 genome.wustl.edu 37 6 10557410 10557410 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 10557410 10557410 C - DEL GCNT2 ENST00000316170 human ensembl 74_37 +1 known frame_shift_del c.754 p.H254fs 1.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 76 0 0 79 23 22.549 SEC63 0 genome.wustl.edu 37 6 108214774 108214774 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 108214774 108214774 T - DEL SEC63 ENST00000369002 human ensembl 74_37 -1 known frame_shift_del c.1586 p.K529fs 1.000 superfamily_ARM-type_fold,smart_Sec63-dom pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain - no_errors SEC63 HGNC ENSG00000025796 80 0 0 99 6 5.71429 SEC63 0 genome.wustl.edu 37 6 108225903 108225904 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 108225903 108225904 - T INS SEC63 ENST00000369002 human ensembl 74_37 -1 known frame_shift_ins c.984_983 p.C329fs 0.999:1.000 pfam_Sec63-dom,superfamily_ARM-type_fold,smart_Sec63-dom pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain - no_errors SEC63 HGNC ENSG00000025796 121 0 0 167 35 17.3267 SLC16A10 0 genome.wustl.edu 37 6 111498763 111498763 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 111498763 111498763 A - DEL SLC16A10 ENST00000368851 human ensembl 74_37 +1 known frame_shift_del c.837 p.I282fs 0.651 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A10 HGNC ENSG00000112394 68 0 0 62 17 21.519 NT5DC1 0 genome.wustl.edu 37 6 116560165 116560165 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 116560165 116560165 T - DEL NT5DC1 ENST00000319550 human ensembl 74_37 +1 known frame_shift_del c.1131 p.F379fs 0.996 superfamily_HAD-like_dom pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom - no_errors NT5DC1 HGNC ENSG00000178425 79 0 0 113 13 10.3175 RFX6 0 genome.wustl.edu 37 6 117237372 117237372 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 117237372 117237372 T - DEL RFX6 ENST00000332958 human ensembl 74_37 +1 known frame_shift_del c.867 p.L291fs 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 106 0 0 111 32 22.3776 JARID2 0 genome.wustl.edu 37 6 15496721 15496722 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 15496721 15496722 - G INS JARID2 ENST00000341776 human ensembl 74_37 +1 known frame_shift_ins c.1265_1266 p.R425fs 0.959:0.963 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 114 0 0 91 25 21.5517 DYNLT1 0 genome.wustl.edu 37 6 159058854 159058856 + In_Frame_Del DEL CTA CTA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CTA CTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 159058854 159058856 CTA - DEL DYNLT1 ENST00000367089 human ensembl 74_37 -1 known in_frame_del c.142_140 p.V47in_frame_del 0.762:0.950:0.944 pfam_Tctex pfam_Tctex - no_errors DYNLT1 HGNC ENSG00000146425 86 0 0 85 11 11.4583 PACRG 0 genome.wustl.edu 37 6 163483223 163483224 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 163483223 163483224 - T INS PACRG ENST00000337019 human ensembl 74_37 +1 known frame_shift_ins c.333_334 p.D113fs 1.000:1.000 pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold - no_errors PACRG HGNC ENSG00000112530 73 0 0 94 14 12.963 QKI 0 genome.wustl.edu 37 6 163899920 163899920 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 163899920 163899920 A - DEL QKI ENST00000361752 human ensembl 74_37 +1 known frame_shift_del c.394 p.K134fs 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 57 0 0 79 9 10.2273 TTLL2 0 genome.wustl.edu 37 6 167754367 167754367 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 167754367 167754367 T - DEL TTLL2 ENST00000239587 human ensembl 74_37 +1 known frame_shift_del c.979 p.S329fs 0.994 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL2 HGNC ENSG00000120440 189 0 0 186 29 13.4884 HLA-B 0 genome.wustl.edu 37 6 31323362 31323363 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 31323362 31323363 - G INS HLA-B ENST00000412585 human ensembl 74_37 -1 known frame_shift_ins c.627_626 p.T211fs 0.002:0.142 pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 175 0 0 204 24 10.5263 TNXB 0 genome.wustl.edu 37 6 32026100 32026100 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 32026100 32026100 G - DEL TNXB ENST00000375247 human ensembl 74_37 -1 known frame_shift_del c.7560 p.E2521fs 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 51 0 0 53 10 15.873 HLA-DOA 0 genome.wustl.edu 37 6 32975279 32975279 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 32975279 32975279 G - DEL HLA-DOA ENST00000229829 human ensembl 74_37 -1 known frame_shift_del c.422 p.P141fs 1.000 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DOA HGNC ENSG00000204252 170 0 0 197 38 16.1702 SYNGAP1 0 genome.wustl.edu 37 6 33405679 33405679 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 33405679 33405679 A - DEL SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known frame_shift_del c.997 p.K334fs 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 132 0 0 125 31 19.8718 C6orf89 0 genome.wustl.edu 37 6 36867370 36867371 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 36867370 36867371 - C INS C6orf89 ENST00000355190 human ensembl 74_37 +1 known frame_shift_ins c.171_172 p.Q60fs 0.997:0.991 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 82 0 0 97 10 9.34579 FAM217A 0 genome.wustl.edu 37 6 4069980 4069980 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 4069980 4069980 A - DEL FAM217A ENST00000274673 human ensembl 74_37 -1 known frame_shift_del c.477 p.F159fs 0.003 NULL NULL - no_errors FAM217A HGNC ENSG00000145975 43 0 0 46 11 19.2982 UNC5CL 0 genome.wustl.edu 37 6 40998403 40998403 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 40998403 40998403 G - DEL UNC5CL ENST00000244565 human ensembl 74_37 -1 known frame_shift_del c.1211 p.P404fs 0.076 superfamily_DEATH-like_dom,smart_Death_domain pfam_ZU5,pfam_Death_domain,superfamily_DEATH-like_dom,smart_ZU5,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors UNC5CL HGNC ENSG00000124602 83 0 0 87 15 14.7059 PTCHD4 0 genome.wustl.edu 37 6 48036112 48036112 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 48036112 48036112 G - DEL PTCHD4 ENST00000339488 human ensembl 74_37 -1 known frame_shift_del c.280 p.L94fs 1.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 112 0 0 110 22 16.6667 DST 0 genome.wustl.edu 37 6 56484643 56484643 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 56484643 56484643 T - DEL DST ENST00000370765 human ensembl 74_37 -1 known frame_shift_del c.4189 p.T1397fs 0.006 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 50 0 0 77 14 15.3846 F13A1 0 genome.wustl.edu 37 6 6266965 6266965 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 6266965 6266965 C - DEL F13A1 ENST00000264870 human ensembl 74_37 -1 known frame_shift_del c.397 p.A133fs 1.000 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 99 0 0 83 17 17 PHF3 0 genome.wustl.edu 37 6 64415953 64415953 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 64415953 64415953 A - DEL PHF3 ENST00000262043 human ensembl 74_37 +1 known frame_shift_del c.3402 p.V1137fs 0.986 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 40 0 0 52 12 18.75 KIAA1009 0 genome.wustl.edu 37 6 84865099 84865099 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 84865099 84865099 T - DEL KIAA1009 ENST00000403245 human ensembl 74_37 -1 known frame_shift_del c.2912 p.K971fs 0.996 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 45 0 0 75 17 18.4783 BACH2 0 genome.wustl.edu 37 6 90642584 90642586 + In_Frame_Del DEL GAC GAC - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 GAC GAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 90642584 90642586 GAC - DEL BACH2 ENST00000257749 human ensembl 74_37 -1 known in_frame_del c.2069_2067 p.S690in_frame_del 1.000:1.000:1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP 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 52 0 0 52 14 21.2121 USP45 0 genome.wustl.edu 37 6 99893879 99893879 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 6 99893879 99893879 A - DEL USP45 ENST00000327681 human ensembl 74_37 -1 known frame_shift_del c.1769 p.L590fs 0.114 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP45 HGNC ENSG00000123552 48 0 0 42 18 30 NYAP1 0 genome.wustl.edu 37 7 100087052 100087052 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 100087052 100087052 G - DEL NYAP1 ENST00000423930 human ensembl 74_37 +1 known frame_shift_del c.1708 p.V572fs 1.000 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 78 0 0 68 21 23.5955 FBXO24 0 genome.wustl.edu 37 7 100192728 100192729 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 100192728 100192729 - G INS FBXO24 ENST00000427939 human ensembl 74_37 +1 known frame_shift_ins c.1070_1071 p.V360fs 1.000:1.000 superfamily_RCC1/BLIP-II pfam_F-box_dom,pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC ENSG00000106336 103 0 0 129 14 9.79021 CDHR3 0 genome.wustl.edu 37 7 105669010 105669011 + Frame_Shift_Del DEL AG AG - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 105669010 105669011 AG - DEL CDHR3 ENST00000317716 human ensembl 74_37 +1 known frame_shift_del c.2286_2287 p.D765fs 0.000:0.005 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 48 0 0 54 10 15.625 LAMB1 0 genome.wustl.edu 37 7 107638926 107638926 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 107638926 107638926 T - DEL LAMB1 ENST00000222399 human ensembl 74_37 -1 known frame_shift_del c.225 p.K75fs 0.994 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 100 0 0 83 34 29.0598 THAP5 0 genome.wustl.edu 37 7 108204998 108204998 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 108204998 108204998 A - DEL THAP5 ENST00000415914 human ensembl 74_37 -1 known frame_shift_del c.825 p.F275fs 0.999 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP5 HGNC ENSG00000177683 79 0 0 76 20 20.8333 TFEC 0 genome.wustl.edu 37 7 115594657 115594657 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 115594657 115594657 T - DEL TFEC ENST00000265440 human ensembl 74_37 -1 known frame_shift_del c.422 p.K141fs 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFEC HGNC ENSG00000105967 54 0 0 71 11 13.4146 WNT16 0 genome.wustl.edu 37 7 120971879 120971879 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 120971879 120971879 G - DEL WNT16 ENST00000222462 human ensembl 74_37 +1 known frame_shift_del c.494 p.G167fs 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt - no_errors WNT16 HGNC ENSG00000002745 53 0 0 84 15 15.1515 ZNF800 0 genome.wustl.edu 37 7 127013667 127013667 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 127013667 127013667 T - DEL ZNF800 ENST00000265827 human ensembl 74_37 -1 known frame_shift_del c.1723 p.R575fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 53 0 0 59 12 16.9014 DGKI 0 genome.wustl.edu 37 7 137237139 137237141 + In_Frame_Del DEL CTC CTC - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 137237139 137237141 CTC - DEL DGKI ENST00000288490 human ensembl 74_37 -1 known in_frame_del c.2123_2121 p.R708in_frame_del 1.000:1.000:1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 77 0 0 85 9 9.57447 FASTK 0 genome.wustl.edu 37 7 150774993 150774993 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 150774993 150774993 A - DEL FASTK ENST00000297532 human ensembl 74_37 -1 known frame_shift_del c.1012 p.S338fs 1.000 pfam_FAST_Leu-rich pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC ENSG00000164896 102 0 0 55 17 23.6111 AGAP3 0 genome.wustl.edu 37 7 150814457 150814457 + Splice_Site DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 150814457 150814457 G - DEL AGAP3 ENST00000397238 human ensembl 74_37 +1 known splice_site_del c.479-1 e4-1 1.000 - - - no_errors AGAP3 HGNC ENSG00000133612 233 0 0 190 37 16.2996 LMBR1 0 genome.wustl.edu 37 7 156521402 156521402 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 156521402 156521402 T - DEL LMBR1 ENST00000354505 human ensembl 74_37 -1 known frame_shift_del c.974 p.K325fs 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt - no_errors LMBR1 HGNC ENSG00000105983 57 0 0 65 21 24.4186 TSPAN13 0 genome.wustl.edu 37 7 16823085 16823086 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 16823085 16823086 - C INS TSPAN13 ENST00000262067 human ensembl 74_37 +1 known frame_shift_ins c.584_585 p.R197fs 1.000:0.922 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN13 HGNC ENSG00000106537 181 0 0 199 41 17.0833 CBX3 0 genome.wustl.edu 37 7 26245999 26245999 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 26245999 26245999 A - DEL CBX3 ENST00000337620 human ensembl 74_37 +1 known frame_shift_del c.36 p.K14fs 1.000 NULL pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX3 HGNC ENSG00000122565 26 0 0 36 7 16.2791 SDK1 0 genome.wustl.edu 37 7 4185504 4185504 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 4185504 4185504 G - DEL SDK1 ENST00000404826 human ensembl 74_37 +1 known frame_shift_del c.4379 p.E1462fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 113 0 0 119 12 9.16031 PKD1L1 0 genome.wustl.edu 37 7 47955186 47955186 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 47955186 47955186 A - DEL PKD1L1 ENST00000289672 human ensembl 74_37 -1 known frame_shift_del c.1071 p.H358fs 0.006 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 32 0 0 45 10 18.1818 PMS2CL 0 genome.wustl.edu 37 7 6791127 6791127 + RNA DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 6791127 6791127 A - DEL PMS2CL ENST00000486256 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors PMS2CL HGNC ENSG00000187953 16 0 0 3 5 62.5 PRKAR1B 0 genome.wustl.edu 37 7 751064 751065 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 751064 751065 - C INS PRKAR1B ENST00000360274 human ensembl 74_37 -1 known frame_shift_ins c.79_78 p.I26fs 1.000:1.000 pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1B HGNC ENSG00000188191 118 0 0 105 33 23.913 CCDC146 0 genome.wustl.edu 37 7 76888377 76888378 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 76888377 76888378 - A INS CCDC146 ENST00000285871 human ensembl 74_37 +1 known frame_shift_ins c.750_751 p.V252fs 0.999:1.000 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 21 0 0 5 4 44.4444 TMEM60 0 genome.wustl.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 77423460 77423460 T - DEL TMEM60 ENST00000257663 human ensembl 74_37 -1 known frame_shift_del c.231 p.A78fs 0.998 NULL pfam_TM_Fragile-X-F-assoc - no_errors TMEM60 HGNC ENSG00000135211 128 0 0 128 40 23.8095 KIAA1324L 0 genome.wustl.edu 37 7 86569340 86569340 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 86569340 86569340 T - DEL KIAA1324L ENST00000450689 human ensembl 74_37 -1 known frame_shift_del c.833 p.N278fs 1.000 superfamily_Growth_fac_rcpt_N_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 56 0 0 69 10 12.6582 SUN1 0 genome.wustl.edu 37 7 896026 896026 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 7 896026 896026 A - DEL SUN1 ENST00000456758 human ensembl 74_37 +1 known frame_shift_del c.1949 p.T652fs 0.009 NULL pfam_SUN1,pfam_Sad1_UNC_C - no_errors SUN1 HGNC ENSG00000164828 84 0 0 81 23 22.1154 RGS22 0 genome.wustl.edu 37 8 101075899 101075899 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 101075899 101075899 A - DEL RGS22 ENST00000360863 human ensembl 74_37 -1 known frame_shift_del c.1097 p.L366fs 0.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 51 0 0 92 8 8 RGS22 0 genome.wustl.edu 37 8 101083674 101083675 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 101083674 101083675 - T INS RGS22 ENST00000360863 human ensembl 74_37 -1 known frame_shift_ins c.517_516 p.P172fs 0.001:0.040 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 69 0 0 149 15 9.14634 PABPC1 0 genome.wustl.edu 37 8 101716620 101716621 + Splice_Site INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 101716620 101716621 - A INS PABPC1 ENST00000318607 human ensembl 74_37 -1 known splice_site_ins c.1819-3_1819-2 e14-2 1.000:0.011 - - - no_errors PABPC1 HGNC ENSG00000070756 182 0 0 287 29 9.17722 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 78 0 0 120 43 26.3804 KLF10 0 genome.wustl.edu 37 8 103663648 103663649 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 103663648 103663649 - G INS KLF10 ENST00000285407 human ensembl 74_37 -1 known frame_shift_ins c.912_911 p.V305fs 0.314:0.973 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF10 HGNC ENSG00000155090 106 0 0 150 15 9.09091 SOX7 0 genome.wustl.edu 37 8 10583646 10583646 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 10583646 10583646 G - DEL SOX7 ENST00000553390 human ensembl 74_37 -1 known frame_shift_del c.925 p.L309fs 0.665 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 70 0 0 105 14 11.7647 SYBU 0 genome.wustl.edu 37 8 110587276 110587276 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 110587276 110587276 G - DEL SYBU ENST00000276646 human ensembl 74_37 -1 known frame_shift_del c.1851 p.V618fs 0.002 NULL NULL - no_errors SYBU HGNC ENSG00000147642 122 0 0 196 11 5.31401 FAM167A 0 genome.wustl.edu 37 8 11281886 11281887 + Frame_Shift_Ins INS - - AG TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 11281886 11281887 - AG INS FAM167A ENST00000284486 human ensembl 74_37 -1 known frame_shift_ins c.641_640 p.C214fs 1.000:1.000 pfam_FAM167 pfam_FAM167 - no_errors FAM167A HGNC ENSG00000154319 97 0 0 178 28 13.5922 MIR1208 0 genome.wustl.edu 37 8 129162433 129162433 + RNA DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 129162433 129162433 G - DEL MIR1208 ENST00000408334 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MIR1208 HGNC ENSG00000221261 60 0 0 104 13 11.1111 KIFC2 0 genome.wustl.edu 37 8 145694710 145694710 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 145694710 145694710 G - DEL KIFC2 ENST00000301332 human ensembl 74_37 +1 known frame_shift_del c.1170 p.Q392fs 0.009 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC ENSG00000167702 28 0 0 45 7 13.4615 DMTN 0 genome.wustl.edu 37 8 21926551 21926552 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 21926551 21926552 - C INS DMTN ENST00000265800 human ensembl 74_37 +1 known frame_shift_ins c.274_275 p.P95fs 1.000:1.000 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors DMTN HGNC ENSG00000158856 119 0 0 215 21 8.89831 FZD3 0 genome.wustl.edu 37 8 28409242 28409242 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 28409242 28409242 T - DEL FZD3 ENST00000240093 human ensembl 74_37 +1 known frame_shift_del c.1527 p.H512fs 1.000 pfam_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD3 HGNC ENSG00000104290 56 0 0 135 15 10 WRN 0 genome.wustl.edu 37 8 31001132 31001132 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 31001132 31001132 A - DEL WRN ENST00000298139 human ensembl 74_37 +1 known frame_shift_del c.3376 p.S1128fs 0.872 NULL pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 70 0 0 116 7 5.69106 BAG4 0 genome.wustl.edu 37 8 38067842 38067843 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 38067842 38067843 - A INS BAG4 ENST00000287322 human ensembl 74_37 +1 known frame_shift_ins c.1205_1206 p.T405fs 1.000:0.728 pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG4 HGNC ENSG00000156735 89 0 0 127 24 15.894 C8orf86 0 genome.wustl.edu 37 8 38385880 38385880 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 38385880 38385880 C - DEL C8orf86 ENST00000358138 human ensembl 74_37 -1 known frame_shift_del c.276 p.C93fs 0.000 NULL NULL - no_errors C8orf86 HGNC ENSG00000196166 111 0 0 160 18 10.1124 CHRNA6 0 genome.wustl.edu 37 8 42611529 42611529 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 42611529 42611529 T - DEL CHRNA6 ENST00000276410 human ensembl 74_37 -1 known frame_shift_del c.813 p.V272fs 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA6 HGNC ENSG00000147434 77 0 0 85 12 12.3711 PRKDC 0 genome.wustl.edu 37 8 48701555 48701555 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 48701555 48701555 T - DEL PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_del c.10811 p.N3604fs 0.000 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 PRKDC HGNC ENSG00000253729 56 0 0 95 17 15.1786 PXDNL 0 genome.wustl.edu 37 8 52232488 52232489 + Frame_Shift_Del DEL TC TC - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 52232488 52232489 TC - DEL PXDNL ENST00000356297 human ensembl 74_37 -1 known frame_shift_del c.4355_4354 p.D1452fs 0.026:0.109 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 35 0 0 62 9 12.6761 RP1 0 genome.wustl.edu 37 8 55541377 55541377 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 55541377 55541377 T - DEL RP1 ENST00000220676 human ensembl 74_37 +1 known frame_shift_del c.4935 p.P1648fs 0.014 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 108 0 0 231 15 6.09756 MTFR1 0 genome.wustl.edu 37 8 66619295 66619303 + In_Frame_Del DEL CCCCCACCG CCCCCACCG - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CCCCCACCG CCCCCACCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 66619295 66619303 CCCCCACCG - DEL MTFR1 ENST00000262146 human ensembl 74_37 +1 known in_frame_del c.568_576 p.PPP191in_frame_del 1.000:0.999:0.001:1.000:1.000:0.002:0.999:1.000:0.842 pfam_Mtfr1 pfam_Mtfr1 - no_errors MTFR1 HGNC ENSG00000066855 49 0 0 83 18 17.8218 ZFHX4 0 genome.wustl.edu 37 8 77766323 77766323 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 77766323 77766323 C - DEL ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_del c.7166 p.L2391fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 45 0 0 113 13 10.3175 MRPS28 0 genome.wustl.edu 37 8 80942415 80942417 + In_Frame_Del DEL GAA GAA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 80942415 80942417 GAA - DEL MRPS28 ENST00000276585 human ensembl 74_37 -1 known in_frame_del c.69_67 p.F23in_frame_del 0.000:0.000:0.000 NULL pfam_Ribosomal_S28_mit,superfamily_NA-bd_OB-fold - no_errors MRPS28 HGNC ENSG00000147586 40 0 0 80 15 15.7895 ZFAND1 0 genome.wustl.edu 37 8 82626226 82626226 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 82626226 82626226 T - DEL ZFAND1 ENST00000220669 human ensembl 74_37 -1 known frame_shift_del c.407 p.N136fs 1.000 NULL pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1 - no_errors ZFAND1 HGNC ENSG00000104231 45 0 0 79 9 10.2273 TMEM64 0 genome.wustl.edu 37 8 91643787 91643788 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 91643787 91643788 - A INS TMEM64 ENST00000458549 human ensembl 74_37 -1 known frame_shift_ins c.944_943 p.C315fs 1.000:1.000 NULL pfam_SNARE_assoc - no_errors TMEM64 HGNC ENSG00000180694 81 0 0 177 17 8.76289 SLC26A7 0 genome.wustl.edu 37 8 92352747 92352747 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 92352747 92352747 A - DEL SLC26A7 ENST00000309536 human ensembl 74_37 +1 known frame_shift_del c.994 p.K333fs 1.000 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 69 0 0 130 14 9.72222 KIAA1429 0 genome.wustl.edu 37 8 95531563 95531563 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 95531563 95531563 A - DEL KIAA1429 ENST00000297591 human ensembl 74_37 -1 known frame_shift_del c.2163 p.F721fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 54 0 0 94 7 6.93069 TSPYL5 0 genome.wustl.edu 37 8 98289664 98289664 + Frame_Shift_Del DEL G G - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 8 98289664 98289664 G - DEL TSPYL5 ENST00000322128 human ensembl 74_37 -1 known frame_shift_del c.409 p.R137fs 0.768 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 68 0 0 97 10 9.34579 ALG2 0 genome.wustl.edu 37 9 101980915 101980915 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 101980915 101980915 A - DEL ALG2 ENST00000476832 human ensembl 74_37 -1 known frame_shift_del c.552 p.F184fs 1.000 NULL pfam_Glyco_trans_1 - no_errors ALG2 HGNC ENSG00000119523 80 0 0 73 19 20.6522 PTPN3 0 genome.wustl.edu 37 9 112145798 112145799 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 112145798 112145799 - G INS PTPN3 ENST00000374541 human ensembl 74_37 -1 known frame_shift_ins c.2287_2286 p.D762fs 0.425:0.022 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 101 0 0 120 19 13.6691 PKN3 0 genome.wustl.edu 37 9 131476550 131476550 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 131476550 131476550 C - DEL PKN3 ENST00000291906 human ensembl 74_37 +1 known frame_shift_del c.1387 p.C465fs 1.000 NULL pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN3 HGNC ENSG00000160447 204 0 0 171 47 21.5596 PRRC2B 0 genome.wustl.edu 37 9 134366909 134366909 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 134366909 134366909 C - DEL PRRC2B ENST00000357304 human ensembl 74_37 +1 known frame_shift_del c.6323 p.R2110fs 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 58 0 0 55 13 19.1176 BRD3 0 genome.wustl.edu 37 9 136916775 136916775 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 136916775 136916775 T - DEL BRD3 ENST00000303407 human ensembl 74_37 -1 known frame_shift_del c.408 p.V137fs 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 67 0 0 47 11 18.9655 PAEP 0 genome.wustl.edu 37 9 138454243 138454243 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 138454243 138454243 C - DEL PAEP ENST00000277508 human ensembl 74_37 +1 known frame_shift_del c.200 p.E69fs 0.137 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Blactoglobulin pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Blactoglobulin,prints_Lipocalin - no_errors PAEP HGNC ENSG00000122133 69 0 0 73 11 13.0952 CCDC171 0 genome.wustl.edu 37 9 15744289 15744290 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 15744289 15744290 - A INS CCDC171 ENST00000380701 human ensembl 74_37 +1 known frame_shift_ins c.2068_2069 p.N692fs 1.000:1.000 superfamily_STAT_TF_coiled-coil superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 24 0 0 30 9 23.0769 DENND4C 0 genome.wustl.edu 37 9 19296163 19296164 + Frame_Shift_Ins INS - - T TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 19296163 19296164 - T INS DENND4C ENST00000602925 human ensembl 74_37 +1 known frame_shift_ins c.959_960 p.E323fs 1.000:0.998 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 114 0 0 95 22 18.8034 PTENP1 0 genome.wustl.edu 37 9 33675365 33675365 + RNA DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 33675365 33675365 A - DEL PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors PTENP1 HGNC ENSG00000237984 14 0 0 10 6 37.5 C9orf131 0 genome.wustl.edu 37 9 35043650 35043650 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 35043650 35043650 C - DEL C9orf131 ENST00000312292 human ensembl 74_37 +1 known frame_shift_del c.1024 p.C344fs 0.000 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 548 0 0 544 93 14.5997 RECK 0 genome.wustl.edu 37 9 36112460 36112461 + Frame_Shift_Ins INS - - A TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e 9 36112460 36112461 - A INS RECK ENST00000377966 human ensembl 74_37 +1 known frame_shift_ins c.2047_2048 p.N685fs 0.988:0.002 NULL pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom - no_errors RECK HGNC ENSG00000122707 45 0 0 55 11 16.6667 TBC1D8B 0 genome.wustl.edu 37 X 106069300 106069300 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 106069300 106069300 T - DEL TBC1D8B ENST00000357242 human ensembl 74_37 +1 known frame_shift_del c.868 p.F291fs 0.995 pfam_GRAM,smart_GRAM pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 95 0 0 113 30 20.979 USP26 0 genome.wustl.edu 37 X 132160413 132160413 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 132160413 132160413 T - DEL USP26 ENST00000370832 human ensembl 74_37 -1 known frame_shift_del c.1836 p.G613fs 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 37 0 0 43 15 25.8621 IL3RA 0 genome.wustl.edu 37 X 1499940 1499941 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 1499940 1499941 - C INS IL3RA ENST00000331035 human ensembl 74_37 +1 known frame_shift_ins c.1005_1006 p.R336fs 0.062:0.063 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL3RA HGNC ENSG00000185291 384 0 0 310 68 17.9894 PASD1 0 genome.wustl.edu 37 X 150791492 150791493 + Frame_Shift_Del DEL TA TA - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 150791492 150791493 TA - DEL PASD1 ENST00000370357 human ensembl 74_37 +1 known frame_shift_del c.502_503 p.Y168fs 0.003:0.001 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 128 0 0 142 28 16.4706 PLXNA3 0 genome.wustl.edu 37 X 153699538 153699540 + In_Frame_Del DEL GGT GGT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 GGT GGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 153699538 153699540 GGT - DEL PLXNA3 ENST00000369682 human ensembl 74_37 +1 known in_frame_del c.5247_5249 p.V1751in_frame_del 0.005:1.000:1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 310 0 0 280 68 19.5402 CNKSR2 0 genome.wustl.edu 37 X 21627557 21627558 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 21627557 21627558 - G INS CNKSR2 ENST00000379510 human ensembl 74_37 +1 known frame_shift_ins c.2514_2515 p.K840fs 0.990:1.000 NULL pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 91 0 0 109 29 21.0145 KLHL34 0 genome.wustl.edu 37 X 21675045 21675046 + Frame_Shift_Ins INS - - CC TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 21675045 21675046 - CC INS KLHL34 ENST00000379499 human ensembl 74_37 -1 known frame_shift_ins c.862_861 p.R287fs 0.005:0.005 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL34 HGNC ENSG00000185915 23 0 0 31 9 22.5 PRRG1 0 genome.wustl.edu 37 X 37312610 37312611 + Frame_Shift_Ins INS - - C TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 37312610 37312611 - C INS PRRG1 ENST00000378628 human ensembl 74_37 +1 known frame_shift_ins c.393_394 p.P134fs 0.008:0.109 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG1 HGNC ENSG00000130962 149 0 0 200 13 6.10329 ARAF 0 genome.wustl.edu 37 X 47426415 47426415 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 47426415 47426415 C - DEL ARAF ENST00000377045 human ensembl 74_37 +1 known frame_shift_del c.758 p.R255fs 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors ARAF HGNC ENSG00000078061 43 0 0 41 8 16.3265 ZC3H12B 0 genome.wustl.edu 37 X 64722078 64722078 + Frame_Shift_Del DEL C C - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 64722078 64722078 C - DEL ZC3H12B ENST00000338957 human ensembl 74_37 +1 known frame_shift_del c.1500 p.H502fs 0.626 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 236 0 0 306 70 18.617 OPHN1 0 genome.wustl.edu 37 X 67283963 67283964 + Frame_Shift_Ins INS - - G TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 67283963 67283964 - G INS OPHN1 ENST00000355520 human ensembl 74_37 -1 known frame_shift_ins c.1891_1890 p.K630fs 0.009:0.003 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 181 0 0 214 43 16.7315 PJA1 0 genome.wustl.edu 37 X 68382054 68382056 + In_Frame_Del DEL CGT CGT - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 CGT CGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 68382054 68382056 CGT - DEL PJA1 ENST00000361478 human ensembl 74_37 -1 known in_frame_del c.1028_1026 p.R343in_frame_del 0.000:0.000:0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 41 0 0 48 4 7.69231 ATRX 0 genome.wustl.edu 37 X 76937581 76937581 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 76937581 76937581 T - DEL ATRX ENST00000373344 human ensembl 74_37 -1 known frame_shift_del c.3167 p.K1056fs 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 143 0 0 196 46 19.0083 TBX22 0 genome.wustl.edu 37 X 79277880 79277880 + Frame_Shift_Del DEL A A - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 79277880 79277880 A - DEL TBX22 ENST00000373294 human ensembl 74_37 +1 known frame_shift_del c.112 p.K39fs 0.044 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 31 0 0 30 8 21.0526 RPS6KA6 0 genome.wustl.edu 37 X 83403063 83403063 + Frame_Shift_Del DEL T T - TCGA-MX-A5UJ-01A-11D-A31L-08 TCGA-MX-A5UJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47e3e103-e690-4261-81ca-5a86bb1b04bc 42412e6b-9c92-42b0-8c1a-bea43f2da99e X 83403063 83403063 T - DEL RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known frame_shift_del c.327 p.A110fs 0.992 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_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 47 0 0 50 21 29.5775