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 A1CF 0 genome.wustl.edu 37 10 52573791 52573791 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 52573791 52573791 C T SNP A1CF ENST00000282641 human ensembl 74_37 -1 known silent c.1173 p.A391 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 A1CF HGNC ENSG00000148584 tier1 - - 20 0 0.00 12 5 29.41 A1CF 0 genome.wustl.edu 37 10 52573791 52573791 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 52573791 52573791 C T SNP A1CF ENST00000282641 human ensembl 74_37 -1 known silent c.1173 p.A391 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 A1CF HGNC ENSG00000148584 tier1 - - 39 0 0.00 12 5 29.41 AATK 0 genome.wustl.edu 37 17 79098773 79098773 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 17 79098773 79098773 G A SNP AATK ENST00000326724 human ensembl 74_37 -1 known missense c.797 p.T266M 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,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 AATK HGNC ENSG00000181409 tier1 rs202102141 - 66 0 0.00 37 10 21.28 AATK 0 genome.wustl.edu 37 17 79098773 79098773 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 17 79098773 79098773 G A SNP AATK ENST00000326724 human ensembl 74_37 -1 known missense c.797 p.T266M 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,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 AATK HGNC ENSG00000181409 tier1 rs202102141 - 72 0 0.00 37 10 21.28 ABCC8 0 genome.wustl.edu 37 11 17498306 17498306 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 17498306 17498306 G A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known silent c.18 p.C6 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 tier1 - - 27 0 0.00 14 5 26.32 ABCC8 0 genome.wustl.edu 37 11 17498306 17498306 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 17498306 17498306 G A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known silent c.18 p.C6 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 tier1 - - 39 0 0.00 14 5 26.32 ABHD8 0 genome.wustl.edu 37 19 17412301 17412301 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 17412301 17412301 C T SNP ABHD8 ENST00000247706 human ensembl 74_37 -1 known missense c.125 p.R42H 0.954 NULL pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ENSG00000127220 tier1 - - 35 0 0.00 13 11 45.83 ABHD8 0 genome.wustl.edu 37 19 17412301 17412301 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 17412301 17412301 C T SNP ABHD8 ENST00000247706 human ensembl 74_37 -1 known missense c.125 p.R42H 0.954 NULL pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ENSG00000127220 tier1 - - 44 0 0.00 13 11 45.83 ACBD3 0 genome.wustl.edu 37 1 226340281 226340281 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 226340281 226340281 C T SNP ACBD3 ENST00000366812 human ensembl 74_37 -1 known missense c.1130 p.R377Q 0.923 NULL pfam_Acyl-CoA-binding_protein,superfamily_GOLD,superfamily_Acyl-CoA-binding_protein,pfscan_GOLD - no_errors ACBD3 HGNC ENSG00000182827 tier1 - - 75 0 0.00 34 19 35.85 ACBD3 0 genome.wustl.edu 37 1 226340281 226340281 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 226340281 226340281 C T SNP ACBD3 ENST00000366812 human ensembl 74_37 -1 known missense c.1130 p.R377Q 0.923 NULL pfam_Acyl-CoA-binding_protein,superfamily_GOLD,superfamily_Acyl-CoA-binding_protein,pfscan_GOLD - no_errors ACBD3 HGNC ENSG00000182827 tier1 - - 81 0 0.00 34 19 35.85 ACSM5 0 genome.wustl.edu 37 16 20448478 20448478 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 16 20448478 20448478 C T SNP ACSM5 ENST00000331849 human ensembl 74_37 +1 known silent c.1413 p.N471 0.677 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ENSG00000183549 tier1 - - 104 0 0.00 66 21 24.14 ACSM5 0 genome.wustl.edu 37 16 20448478 20448478 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 16 20448478 20448478 C T SNP ACSM5 ENST00000331849 human ensembl 74_37 +1 known silent c.1413 p.N471 0.677 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ENSG00000183549 tier1 - - 119 0 0.00 66 21 24.14 AIFM1 0 genome.wustl.edu 37 X 129270036 129270036 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 X 129270036 129270036 C T SNP AIFM1 ENST00000287295 human ensembl 74_37 -1 known missense c.1289 p.R430H 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors AIFM1 HGNC ENSG00000156709 tier1 - - 46 0 0.00 5 31 86.11 AIFM1 0 genome.wustl.edu 37 X 129270036 129270036 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 X 129270036 129270036 C T SNP AIFM1 ENST00000287295 human ensembl 74_37 -1 known missense c.1289 p.R430H 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors AIFM1 HGNC ENSG00000156709 tier1 - - 55 0 0.00 5 31 86.11 ANKRD30B 0 genome.wustl.edu 37 18 14851759 14851759 + Silent SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 18 14851759 14851759 A G SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known silent c.3459 p.A1153 0.925 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 tier1 - - 104 0 0.00 43 22 33.85 ANKRD30B 0 genome.wustl.edu 37 18 14851759 14851759 + Silent SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 18 14851759 14851759 A G SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known silent c.3459 p.A1153 0.925 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 tier1 - - 112 0 0.00 43 22 33.85 ANKRD6 0 genome.wustl.edu 37 6 90312804 90312804 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 90312804 90312804 G A SNP ANKRD6 ENST00000339746 human ensembl 74_37 +1 known silent c.276 p.A92 0.003 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD6 HGNC ENSG00000135299 tier1 - - 17 0 0.00 16 6 27.27 ANKRD6 0 genome.wustl.edu 37 6 90312804 90312804 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 90312804 90312804 G A SNP ANKRD6 ENST00000339746 human ensembl 74_37 +1 known silent c.276 p.A92 0.003 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD6 HGNC ENSG00000135299 tier1 - - 29 0 0.00 16 6 27.27 AP5Z1 0 genome.wustl.edu 37 7 4823399 4823399 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 4823399 4823399 C T SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known silent c.591 p.G197 0.854 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 tier1 - - 78 0 0.00 44 9 16.98 AP5Z1 0 genome.wustl.edu 37 7 4823399 4823399 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 4823399 4823399 C T SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known silent c.591 p.G197 0.854 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 tier1 - - 80 0 0.00 44 9 16.98 AQPEP 0 genome.wustl.edu 37 5 115298820 115298820 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 5 115298820 115298820 C T SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known missense c.506 p.A169V 0.001 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 tier1 - - 15 0 0.00 2 4 66.67 AQPEP 0 genome.wustl.edu 37 5 115298820 115298820 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 5 115298820 115298820 C T SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known missense c.506 p.A169V 0.001 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 tier1 - - 16 0 0.00 2 4 66.67 AQPEP 0 genome.wustl.edu 37 5 115336817 115336817 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 5 115336817 115336817 G T SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known missense c.1701 p.M567I 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 64 0 0.00 35 2 5.41 ARHGAP21 0 genome.wustl.edu 37 10 24909458 24909458 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 24909458 24909458 G A SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known missense c.1366 p.R456C 0.989 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 tier1 - - 65 0 0.00 64 9 12.33 ARHGAP21 0 genome.wustl.edu 37 10 24909458 24909458 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 24909458 24909458 G A SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known missense c.1366 p.R456C 0.989 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 tier1 - - 91 0 0.00 64 9 12.33 ARL5A 0 genome.wustl.edu 37 2 152684743 152684743 + RNA SNP C C G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 152684743 152684743 C G SNP ARL5A ENST00000487723 human ensembl 74_37 -1 putative rna NULL NULL 0.986 - - - no_errors ARL5A HGNC ENSG00000162980 tier1 - - 29 0 0.00 22 7 24.14 ARL5A 0 genome.wustl.edu 37 2 152684743 152684743 + RNA SNP C C G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 152684743 152684743 C G SNP ARL5A ENST00000487723 human ensembl 74_37 -1 putative rna NULL NULL 0.986 - - - no_errors ARL5A HGNC ENSG00000162980 tier1 - - 40 0 0.00 22 7 24.14 ASB15 0 genome.wustl.edu 37 7 123269135 123269135 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 123269135 123269135 G A SNP ASB15 ENST00000275699 human ensembl 74_37 +1 known missense c.1087 p.V363I 0.235 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB15 HGNC ENSG00000146809 tier1 - - 57 0 0.00 51 38 42.70 ASB15 0 genome.wustl.edu 37 7 123269135 123269135 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 123269135 123269135 G A SNP ASB15 ENST00000275699 human ensembl 74_37 +1 known missense c.1087 p.V363I 0.235 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB15 HGNC ENSG00000146809 tier1 - - 67 0 0.00 51 38 42.70 ASXL3 0 genome.wustl.edu 37 18 31318661 31318661 + Missense_Mutation SNP A A T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 18 31318661 31318661 A T SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.1293 p.K431N 0.994 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 46 0 0.00 26 7 21.21 ASXL3 0 genome.wustl.edu 37 18 31318661 31318661 + Missense_Mutation SNP A A T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 18 31318661 31318661 A T SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.1293 p.K431N 0.994 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 48 0 0.00 26 7 21.21 ATP13A4-AS1 0 genome.wustl.edu 37 3 193272456 193272456 + RNA SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 193272456 193272456 T C SNP ATP13A4-AS1 ENST00000426459 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ATP13A4-AS1 HGNC ENSG00000225473 tier1 - - 42 0 0.00 41 6 12.77 ATP4A 0 genome.wustl.edu 37 19 36051293 36051293 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 36051293 36051293 G A SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known silent c.759 p.I253 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,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 ATP4A HGNC ENSG00000105675 tier1 rs149356804 - 57 0 0.00 25 7 21.88 ATP4A 0 genome.wustl.edu 37 19 36051293 36051293 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 36051293 36051293 G A SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known silent c.759 p.I253 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,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 ATP4A HGNC ENSG00000105675 tier1 rs149356804 - 80 0 0.00 25 7 21.88 ATXN7L3 0 genome.wustl.edu 37 17 42274607 42274607 + Silent SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 17 42274607 42274607 G T SNP ATXN7L3 ENST00000454077 human ensembl 74_37 -1 known silent c.345 p.I115 0.995 NULL pfam_SAGA_su_Sgf11,pfam_SCA7_dom - no_errors ATXN7L3 HGNC ENSG00000087152 tier1 - - 57 0 0.00 14 31 68.89 ATXN7L3 0 genome.wustl.edu 37 17 42274607 42274607 + Silent SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 17 42274607 42274607 G T SNP ATXN7L3 ENST00000454077 human ensembl 74_37 -1 known silent c.345 p.I115 0.995 NULL pfam_SAGA_su_Sgf11,pfam_SCA7_dom - no_errors ATXN7L3 HGNC ENSG00000087152 tier1 - - 58 0 0.00 14 31 68.89 AUTS2 0 genome.wustl.edu 37 7 70231114 70231114 + Nonsense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 70231114 70231114 C T SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known nonsense c.1483 p.R495* 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 tier1 - - 61 0 0.00 57 9 13.64 AZU1 0 genome.wustl.edu 37 19 828364 828364 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 828364 828364 G A SNP AZU1 ENST00000233997 human ensembl 74_37 +1 known missense c.193 p.A65T 0.006 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors AZU1 HGNC ENSG00000172232 tier1 - - 29 0 0.00 12 10 45.45 AZU1 0 genome.wustl.edu 37 19 828364 828364 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 828364 828364 G A SNP AZU1 ENST00000233997 human ensembl 74_37 +1 known missense c.193 p.A65T 0.006 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors AZU1 HGNC ENSG00000172232 tier1 - - 32 0 0.00 12 10 45.45 B3GNTL1 0 genome.wustl.edu 37 17 80923600 80923600 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 17 80923600 80923600 G T SNP B3GNTL1 ENST00000320865 human ensembl 74_37 -1 known missense c.527 p.T176K 0.993 pfam_Glyco_trans_2 pfam_Glyco_trans_2 - no_errors B3GNTL1 HGNC ENSG00000175711 55 0 0.00 49 4 7.41 BAZ2B 0 genome.wustl.edu 37 2 160194204 160194204 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 160194204 160194204 T C SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.5534 p.K1845R 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 tier1 - - 77 0 0.00 38 20 34.48 BAZ2B 0 genome.wustl.edu 37 2 160194204 160194204 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 160194204 160194204 T C SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.5534 p.K1845R 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 tier1 - - 87 0 0.00 38 20 34.48 BCL9L 0 genome.wustl.edu 37 11 118768467 118768467 + RNA DEL T T - TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 118768467 118768467 T - DEL BCL9L ENST00000526143 human ensembl 74_37 -1 known rna NULL NULL 0.885 - - - no_errors BCL9L HGNC ENSG00000186174 tier1 27 0 0.00 13 3 18.75 C1QTNF9B 0 genome.wustl.edu 37 13 24465623 24465623 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 24465623 24465623 G A SNP C1QTNF9B ENST00000382057 human ensembl 74_37 -1 known missense c.293 p.T98M 0.289 NULL pfam_Collagen - no_errors C1QTNF9B HGNC ENSG00000205863 tier1 rs4083570 - 111 0 0.00 135 18 11.76 C1QTNF9B 0 genome.wustl.edu 37 13 24465623 24465623 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 24465623 24465623 G A SNP C1QTNF9B ENST00000382057 human ensembl 74_37 -1 known missense c.293 p.T98M 0.289 NULL pfam_Collagen - no_errors C1QTNF9B HGNC ENSG00000205863 tier1 rs4083570 - 128 0 0.00 135 18 11.76 C1orf167 0 genome.wustl.edu 37 1 11848037 11848037 + Nonsense_Mutation SNP A A T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 11848037 11848037 A T SNP C1orf167 ENST00000433342 human ensembl 74_37 +1 known nonsense c.3853 p.R1285* 0.047 NULL NULL - no_errors C1orf167 HGNC ENSG00000215910 25 0 0.00 28 3 9.68 C9orf40 0 genome.wustl.edu 37 9 77563083 77563083 + Missense_Mutation SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 9 77563083 77563083 A G SNP C9orf40 ENST00000376854 human ensembl 74_37 -1 known missense c.466 p.W156R 1.000 NULL NULL - no_errors C9orf40 HGNC ENSG00000135045 tier1 - - 21 0 0.00 12 5 29.41 C9orf40 0 genome.wustl.edu 37 9 77563083 77563083 + Missense_Mutation SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 9 77563083 77563083 A G SNP C9orf40 ENST00000376854 human ensembl 74_37 -1 known missense c.466 p.W156R 1.000 NULL NULL - no_errors C9orf40 HGNC ENSG00000135045 tier1 - - 30 0 0.00 12 5 29.41 CACNA1A 0 genome.wustl.edu 37 19 13319692 13319694 + In_Frame_Del DEL GAT GAT - TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 GAT GAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 13319692 13319694 GAT - DEL CACNA1A ENST00000360228 human ensembl 74_37 -1 known in_frame_del c.6658_6656 p.H2219in_frame_del 1.000:1.000:1.000 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 19 0 0.00 9 3 25.00 CADM1 0 genome.wustl.edu 37 11 115080312 115080314 + In_Frame_Del DEL TGG TGG - TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 TGG TGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 115080312 115080314 TGG - DEL CADM1 ENST00000452722 human ensembl 74_37 -1 known in_frame_del c.1060_1058 p.T353in_frame_del 1.000:1.000:1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM1 HGNC ENSG00000182985 tier1 28 0 0.00 22 2 8.33 CAPN14 0 genome.wustl.edu 37 2 31416160 31416160 + Nonsense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 31416160 31416160 C T SNP CAPN14 ENST00000444918 human ensembl 74_37 -1 known nonsense c.951 p.W317* 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease,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,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN14 HGNC ENSG00000214711 tier1 - - 47 0 0.00 28 12 30.00 CAPN14 0 genome.wustl.edu 37 2 31416160 31416160 + Nonsense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 31416160 31416160 C T SNP CAPN14 ENST00000444918 human ensembl 74_37 -1 known nonsense c.951 p.W317* 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease,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,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN14 HGNC ENSG00000214711 tier1 - - 53 0 0.00 28 12 30.00 CARM1P1 0 genome.wustl.edu 37 9 2943517 2943518 + RNA INS - - CC TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 9 2943517 2943518 - CC INS CARM1P1 ENST00000492533 human ensembl 74_37 -1 known rna NULL NULL 0.066:0.065 - - - no_errors CARM1P1 HGNC ENSG00000227835 tier1 24 0 0.00 9 10 52.63 CARM1P1 0 genome.wustl.edu 37 9 2943517 2943518 + RNA INS - - CC TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 9 2943517 2943518 - CC INS CARM1P1 ENST00000492533 human ensembl 74_37 -1 known rna NULL NULL 0.066:0.065 - - - no_errors CARM1P1 HGNC ENSG00000227835 tier1 30 0 0.00 9 10 52.63 CCDC60 0 genome.wustl.edu 37 12 119968722 119968722 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 12 119968722 119968722 T C SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known missense c.1405 p.F469L 0.993 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 tier1 - - 48 0 0.00 16 23 58.97 CCDC60 0 genome.wustl.edu 37 12 119968722 119968722 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 12 119968722 119968722 T C SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known missense c.1405 p.F469L 0.993 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 tier1 - - 55 0 0.00 16 23 58.97 CCKBR 0 genome.wustl.edu 37 11 6291950 6291950 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 6291950 6291950 G A SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known missense c.728 p.R243H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 tier1 - - 43 0 0.00 21 19 47.50 CCKBR 0 genome.wustl.edu 37 11 6291950 6291950 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 6291950 6291950 G A SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known missense c.728 p.R243H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 tier1 - - 52 0 0.00 21 19 47.50 CCT8L2 0 genome.wustl.edu 37 22 17072055 17072055 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 22 17072055 17072055 G A SNP CCT8L2 ENST00000359963 human ensembl 74_37 -1 known silent c.1386 p.D462 0.009 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 tier1 - - 113 0 0.00 67 34 33.66 CCT8L2 0 genome.wustl.edu 37 22 17072055 17072055 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 22 17072055 17072055 G A SNP CCT8L2 ENST00000359963 human ensembl 74_37 -1 known silent c.1386 p.D462 0.009 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 tier1 - - 96 0 0.00 67 34 33.66 CDH12 0 genome.wustl.edu 37 5 21752212 21752212 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 5 21752212 21752212 G A SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known silent c.2019 p.F673 0.997 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 121 0 0.00 81 13 13.83 CDH12 0 genome.wustl.edu 37 5 21752212 21752212 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 5 21752212 21752212 G A SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known silent c.2019 p.F673 0.997 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 142 0 0.00 81 13 13.83 CDH22 0 genome.wustl.edu 37 20 44856189 44856189 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 20 44856189 44856189 C T SNP CDH22 ENST00000372262 human ensembl 74_37 -1 known missense c.628 p.V210M 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 61 0 0.00 47 7 12.96 CFHR1 0 genome.wustl.edu 37 1 196794651 196794651 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 196794651 196794651 G A SNP CFHR1 ENST00000320493 human ensembl 74_37 +1 known missense c.103 p.D35N 0.212 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR1 HGNC ENSG00000244414 tier1 - - 54 0 0.00 36 6 14.29 CFHR1 0 genome.wustl.edu 37 1 196794651 196794651 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 196794651 196794651 G A SNP CFHR1 ENST00000320493 human ensembl 74_37 +1 known missense c.103 p.D35N 0.212 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR1 HGNC ENSG00000244414 tier1 - - 65 0 0.00 36 6 14.29 CNTNAP2 0 genome.wustl.edu 37 7 147675017 147675017 + Silent SNP A A T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 147675017 147675017 A T SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known silent c.2319 p.G773 0.999 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 tier1 - - 57 0 0.00 33 45 57.69 CNTNAP2 0 genome.wustl.edu 37 7 147675017 147675017 + Silent SNP A A T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 147675017 147675017 A T SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known silent c.2319 p.G773 0.999 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 tier1 - - 78 0 0.00 33 45 57.69 CNTNAP4 0 genome.wustl.edu 37 16 76482821 76482821 + Silent SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 16 76482821 76482821 A G SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known silent c.897 p.E299 0.006 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 tier1 - - 71 0 0.00 48 14 22.58 CNTNAP5 0 genome.wustl.edu 37 2 124999867 124999867 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 124999867 124999867 C T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.278 p.T93M 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_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 CNTNAP5 HGNC ENSG00000155052 tier1 - - 64 0 0.00 39 15 27.78 COL22A1 0 genome.wustl.edu 37 8 139601386 139601386 + RNA DEL A A - TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 139601386 139601386 A - DEL COL22A1 ENST00000341807 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COL22A1 HGNC ENSG00000169436 tier1 28 0 0.00 28 6 17.65 COL6A2 0 genome.wustl.edu 37 21 47546099 47546099 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 21 47546099 47546099 C T SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known silent c.2370 p.S790 0.879 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 tier1 - - 34 0 0.00 16 6 27.27 COL6A2 0 genome.wustl.edu 37 21 47546099 47546099 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 21 47546099 47546099 C T SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known silent c.2370 p.S790 0.879 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 tier1 - - 45 0 0.00 16 6 27.27 CRISPLD1 0 genome.wustl.edu 37 8 75925214 75925214 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 75925214 75925214 G T SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known missense c.467 p.C156F 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 tier1 - - 59 0 0.00 60 18 22.78 CRISPLD1 0 genome.wustl.edu 37 8 75925214 75925214 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 75925214 75925214 G T SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known missense c.467 p.C156F 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 tier1 - - 64 0 0.00 60 18 22.78 CSF3R 0 genome.wustl.edu 37 1 36932232 36932232 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 36932232 36932232 G T SNP CSF3R ENST00000373103 human ensembl 74_37 -1 known missense c.2318 p.T773N 0.139 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 48 0 0.00 43 4 8.51 CSMD2 0 genome.wustl.edu 37 1 34401382 34401382 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 34401382 34401382 A C SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.691 p.F231V 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 38 0 0.00 13 13 50.00 CSMD2 0 genome.wustl.edu 37 1 34401382 34401382 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 34401382 34401382 A C SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.691 p.F231V 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 44 0 0.00 13 13 50.00 CSRNP1 0 genome.wustl.edu 37 3 39187974 39187974 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 39187974 39187974 A C SNP CSRNP1 ENST00000273153 human ensembl 74_37 -1 known missense c.200 p.F67C 0.748 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP1 HGNC ENSG00000144655 tier1 - - 39 0 0.00 13 11 45.83 CSRNP1 0 genome.wustl.edu 37 3 39187974 39187974 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 39187974 39187974 A C SNP CSRNP1 ENST00000273153 human ensembl 74_37 -1 known missense c.200 p.F67C 0.748 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP1 HGNC ENSG00000144655 tier1 - - 44 0 0.00 13 11 45.83 CUEDC2 0 genome.wustl.edu 37 10 104183745 104183745 + RNA SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 104183745 104183745 A G SNP CUEDC2 ENST00000465409 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors CUEDC2 HGNC ENSG00000107874 tier1 - - 100 0 0.00 36 26 41.94 CUEDC2 0 genome.wustl.edu 37 10 104183745 104183745 + RNA SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 104183745 104183745 A G SNP CUEDC2 ENST00000465409 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors CUEDC2 HGNC ENSG00000107874 tier1 - - 86 0 0.00 36 26 41.94 CXCR5 0 genome.wustl.edu 37 11 118764738 118764738 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 118764738 118764738 G A SNP CXCR5 ENST00000292174 human ensembl 74_37 +1 known missense c.485 p.R162H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_ATII_rcpt - no_errors CXCR5 HGNC ENSG00000160683 tier1 - - 32 0 0.00 9 15 62.50 CXCR5 0 genome.wustl.edu 37 11 118764738 118764738 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 118764738 118764738 G A SNP CXCR5 ENST00000292174 human ensembl 74_37 +1 known missense c.485 p.R162H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_ATII_rcpt - no_errors CXCR5 HGNC ENSG00000160683 tier1 - - 48 0 0.00 9 15 62.50 CYFIP1 0 genome.wustl.edu 37 15 22980149 22980149 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 15 22980149 22980149 G T SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known missense c.2647 p.A883S 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 tier1 - - 39 0 0.00 27 4 12.90 CYFIP1 0 genome.wustl.edu 37 15 22980149 22980149 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 15 22980149 22980149 G T SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known missense c.2647 p.A883S 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 tier1 - - 58 0 0.00 27 4 12.90 DACH2 0 genome.wustl.edu 37 X 85969601 85969601 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 X 85969601 85969601 T G SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known missense c.982 p.L328V 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 tier1 - - 17 0 0.00 6 15 71.43 DACH2 0 genome.wustl.edu 37 X 85969601 85969601 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 X 85969601 85969601 T G SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known missense c.982 p.L328V 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 tier1 - - 23 0 0.00 6 15 71.43 DARC 0 genome.wustl.edu 37 1 159176205 159176205 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 159176205 159176205 T C SNP DARC ENST00000368121 human ensembl 74_37 +1 known missense c.982 p.S328P 0.000 NULL prints_Duffy_chemokine_rcpt - no_errors DARC HGNC ENSG00000213088 tier1 - - 120 0 0.00 36 23 38.98 DARC 0 genome.wustl.edu 37 1 159176205 159176205 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 159176205 159176205 T C SNP DARC ENST00000368121 human ensembl 74_37 +1 known missense c.982 p.S328P 0.000 NULL prints_Duffy_chemokine_rcpt - no_errors DARC HGNC ENSG00000213088 tier1 - - 128 0 0.00 36 23 38.98 DCAF12L2 0 genome.wustl.edu 37 X 125298766 125298766 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 X 125298766 125298766 T G SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.1142 p.K381T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 tier1 - - 41 0 0.00 11 19 63.33 DCAF12L2 0 genome.wustl.edu 37 X 125298766 125298766 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 X 125298766 125298766 T G SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.1142 p.K381T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 tier1 - - 47 0 0.00 11 19 63.33 DCC 0 genome.wustl.edu 37 18 50451636 50451636 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 18 50451636 50451636 A C SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.881 p.N294T 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 42 0 0.00 39 15 27.78 DCC 0 genome.wustl.edu 37 18 50451636 50451636 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 18 50451636 50451636 A C SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.881 p.N294T 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 49 0 0.00 39 15 27.78 DCHS2 0 genome.wustl.edu 37 4 155160394 155160394 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 155160394 155160394 A C SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.6055 p.L2019V 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 49 0 0.00 32 22 40.74 DCHS2 0 genome.wustl.edu 37 4 155160394 155160394 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 155160394 155160394 A C SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.6055 p.L2019V 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 76 0 0.00 32 22 40.74 DCHS2 0 genome.wustl.edu 37 4 155254358 155254358 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 155254358 155254358 G T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.1505 p.A502E 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 49 0 0.00 37 4 9.76 DCHS2 0 genome.wustl.edu 37 4 155254358 155254358 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 155254358 155254358 G T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.1505 p.A502E 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 52 0 0.00 37 4 9.76 DCSTAMP 0 genome.wustl.edu 37 8 105367289 105367289 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 105367289 105367289 C T SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known missense c.1214 p.S405L 0.891 pfam_DC_STAMP-like,superfamily_ABC1_TM_dom pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 43 0 0.00 53 4 7.02 DDX4 0 genome.wustl.edu 37 5 55081694 55081694 + Missense_Mutation SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 5 55081694 55081694 A G SNP DDX4 ENST00000505374 human ensembl 74_37 +1 known missense c.859 p.I287V 1.000 superfamily_P-loop_NTPase 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 53 0 0.00 28 3 9.68 DENND2A 0 genome.wustl.edu 37 7 140273781 140273781 + Nonsense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 140273781 140273781 G A SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known nonsense c.1273 p.R425* 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 55 0 0.00 61 18 22.78 DGKI 0 genome.wustl.edu 37 7 137255970 137255970 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 137255970 137255970 C T SNP DGKI ENST00000288490 human ensembl 74_37 -1 known missense c.1898 p.R633H 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory 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 tier1 - - 74 0 0.00 65 7 9.72 DGKI 0 genome.wustl.edu 37 7 137255970 137255970 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 137255970 137255970 C T SNP DGKI ENST00000288490 human ensembl 74_37 -1 known missense c.1898 p.R633H 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory 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 tier1 - - 78 0 0.00 65 7 9.72 DNAH10 0 genome.wustl.edu 37 12 124341688 124341688 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 12 124341688 124341688 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.6170 p.S2057L 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 121 0 0.00 20 58 74.36 DNAH10 0 genome.wustl.edu 37 12 124341688 124341688 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 12 124341688 124341688 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.6170 p.S2057L 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 123 0 0.00 20 58 74.36 DNAH7 0 genome.wustl.edu 37 2 196726626 196726626 + Missense_Mutation SNP C C A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 196726626 196726626 C A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.7551 p.L2517F 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 - - 40 0 0.00 26 7 21.21 DNAH7 0 genome.wustl.edu 37 2 196726626 196726626 + Missense_Mutation SNP C C A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 196726626 196726626 C A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.7551 p.L2517F 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 - - 49 0 0.00 26 7 21.21 DNAH9 0 genome.wustl.edu 37 17 11593365 11593365 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 17 11593365 11593365 T C SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.4226 p.L1409P 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 DNAH9 HGNC ENSG00000007174 tier1 - - 44 0 0.00 20 8 28.57 DNAH9 0 genome.wustl.edu 37 17 11593365 11593365 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 17 11593365 11593365 T C SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.4226 p.L1409P 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 DNAH9 HGNC ENSG00000007174 tier1 - - 48 0 0.00 20 8 28.57 DNM1P47 0 genome.wustl.edu 37 15 102299761 102299761 + RNA SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 15 102299761 102299761 G A SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 16 0 0.00 12 4 25.00 DNM1P47 0 genome.wustl.edu 37 15 102299761 102299761 + RNA SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 15 102299761 102299761 G A SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 19 0 0.00 12 4 25.00 DOCK1 0 genome.wustl.edu 37 10 129213428 129213428 + Nonsense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 129213428 129213428 G T SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known nonsense c.4378 p.E1460* 1.000 pfam_DOCK_C 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 75 0 0.00 52 4 7.14 EDNRB 0 genome.wustl.edu 37 13 78492695 78492695 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 78492695 78492695 G A SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.14 p.P5L 0.002 prints_ETB_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 tier1 - - 37 0 0.00 31 22 41.51 EDNRB 0 genome.wustl.edu 37 13 78492695 78492695 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 78492695 78492695 G A SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.14 p.P5L 0.002 prints_ETB_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 tier1 - - 45 0 0.00 31 22 41.51 EFR3A 0 genome.wustl.edu 37 8 132952792 132952792 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 132952792 132952792 G A SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known silent c.57 p.L19 1.000 NULL superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 tier1 - - 62 0 0.00 77 26 25.24 EFR3A 0 genome.wustl.edu 37 8 132952792 132952792 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 132952792 132952792 G A SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known silent c.57 p.L19 1.000 NULL superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 tier1 - - 67 0 0.00 77 26 25.24 ENSG00000225411 0 genome.wustl.edu 37 9 68400476 68400476 + RNA SNP G G C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 9 68400476 68400476 G C SNP ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 - - 25 0 0.00 11 4 26.67 ENSG00000225411 0 genome.wustl.edu 37 9 68400476 68400476 + RNA SNP G G C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 9 68400476 68400476 G C SNP ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 - - 32 0 0.00 11 4 26.67 ENSG00000234828 0 genome.wustl.edu 37 4 150607571 150607571 + RNA SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 150607571 150607571 T G SNP ENSG00000234828 ENST00000511993 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-526A4.1 Clone_based_vega_gene ENSG00000234828 tier1 - - 59 0 0.00 50 16 24.24 ENSG00000234828 0 genome.wustl.edu 37 4 150607571 150607571 + RNA SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 150607571 150607571 T G SNP ENSG00000234828 ENST00000511993 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-526A4.1 Clone_based_vega_gene ENSG00000234828 tier1 - - 62 0 0.00 50 16 24.24 ENSG00000242111 0 genome.wustl.edu 37 9 107037824 107037824 + RNA SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 9 107037824 107037824 T G SNP ENSG00000242111 ENST00000493279 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-86L19.2 Clone_based_vega_gene ENSG00000242111 tier1 - - 36 0 0.00 25 15 37.50 ENSG00000242111 0 genome.wustl.edu 37 9 107037824 107037824 + RNA SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 9 107037824 107037824 T G SNP ENSG00000242111 ENST00000493279 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-86L19.2 Clone_based_vega_gene ENSG00000242111 tier1 - - 37 0 0.00 25 15 37.50 ENSG00000255525 0 genome.wustl.edu 37 11 31329171 31329171 + RNA SNP A A T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 31329171 31329171 A T SNP ENSG00000255525 ENST00000528872 human ensembl 74_37 +1 known rna NULL NULL 0.107 - - - no_errors RP1-296L11.1 Clone_based_vega_gene ENSG00000255525 tier1 - - 44 0 0.00 20 15 42.86 ENSG00000255525 0 genome.wustl.edu 37 11 31329171 31329171 + RNA SNP A A T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 31329171 31329171 A T SNP ENSG00000255525 ENST00000528872 human ensembl 74_37 +1 known rna NULL NULL 0.107 - - - no_errors RP1-296L11.1 Clone_based_vega_gene ENSG00000255525 tier1 - - 59 0 0.00 20 15 42.86 ENSG00000268713 0 genome.wustl.edu 37 19 57773718 57773719 + RNA INS - - AAA TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 57773718 57773719 - AAA INS ENSG00000268713 ENST00000600047 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CTC-444N24.8 Clone_based_vega_gene ENSG00000268713 tier1 60 0 0.00 37 2 5.13 ERBB4 0 genome.wustl.edu 37 2 212426722 212426722 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 212426722 212426722 A C SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.2393 p.L798R 0.999 pirsf_Tyr_kinase_EGF/ERB/XmrK_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_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 56 0 0.00 26 3 10.34 EVC 0 genome.wustl.edu 37 4 5758076 5758076 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 5758076 5758076 T G SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.1550 p.V517G 0.000 NULL NULL - no_errors EVC HGNC ENSG00000072840 tier1 - - 44 0 0.00 19 20 51.28 EVC 0 genome.wustl.edu 37 4 5758076 5758076 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 5758076 5758076 T G SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.1550 p.V517G 0.000 NULL NULL - no_errors EVC HGNC ENSG00000072840 tier1 - - 50 0 0.00 19 20 51.28 EYS 0 genome.wustl.edu 37 6 65523282 65523282 + Silent SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 65523282 65523282 A G SNP EYS ENST00000370616 human ensembl 74_37 -1 known silent c.3432 p.T1144 0.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 19 0 0.00 7 6 46.15 EYS 0 genome.wustl.edu 37 6 65523282 65523282 + Silent SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 65523282 65523282 A G SNP EYS ENST00000370616 human ensembl 74_37 -1 known silent c.3432 p.T1144 0.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 27 0 0.00 7 6 46.15 EYS 0 genome.wustl.edu 37 6 66115232 66115232 + Silent SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 66115232 66115232 A G SNP EYS ENST00000370616 human ensembl 74_37 -1 known silent c.891 p.P297 0.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 38 0 0.00 25 13 34.21 EYS 0 genome.wustl.edu 37 6 66115232 66115232 + Silent SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 66115232 66115232 A G SNP EYS ENST00000370616 human ensembl 74_37 -1 known silent c.891 p.P297 0.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 41 0 0.00 25 13 34.21 FAM105A 0 genome.wustl.edu 37 5 14608906 14608906 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 5 14608906 14608906 G T SNP FAM105A ENST00000274217 human ensembl 74_37 +1 known missense c.677 p.C226F 1.000 prints_FAM105,prints_FAM105A prints_FAM105,prints_FAM105A - no_errors FAM105A HGNC ENSG00000145569 36 0 0.00 24 3 11.11 FAM184A 0 genome.wustl.edu 37 6 119296289 119296292 + Frame_Shift_Del DEL CCTC CCTC - TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 CCTC CCTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 119296289 119296292 CCTC 0 DEL FAM184A ENST00000338891 human ensembl 74_37 -1 known frame_shift_del c.2668_2665 p.E889fs 0.999:1.000:1.000:1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 72 0 0.00 46 4 8.00 FAM198A 0 genome.wustl.edu 37 3 43074800 43074800 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 43074800 43074800 C T SNP FAM198A ENST00000273146 human ensembl 74_37 +1 known missense c.1045 p.R349C 1.000 NULL NULL - no_errors FAM198A HGNC ENSG00000144649 tier1 - - 56 0 0.00 20 10 32.26 FAM47A 0 genome.wustl.edu 37 X 34148882 34148882 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 X 34148882 34148882 C T SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known missense c.1514 p.R505H 0.002 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 22 0 0.00 31 8 20.51 FAM65C 0 genome.wustl.edu 37 20 49225464 49225464 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 20 49225464 49225464 G A SNP FAM65C ENST00000535356 human ensembl 74_37 -1 known silent c.669 p.P223 0.037 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 tier1 - - 113 0 0.00 82 6 6.82 FAM65C 0 genome.wustl.edu 37 20 49225464 49225464 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 20 49225464 49225464 G A SNP FAM65C ENST00000535356 human ensembl 74_37 -1 known silent c.669 p.P223 0.037 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 tier1 - - 80 0 0.00 82 6 6.82 FANCM 0 genome.wustl.edu 37 14 45645573 45645573 + Nonsense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 14 45645573 45645573 C T SNP FANCM ENST00000267430 human ensembl 74_37 +1 known nonsense c.3616 p.Q1206* 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 tier1 - - 64 0 0.00 53 23 30.26 FANCM 0 genome.wustl.edu 37 14 45645573 45645573 + Nonsense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 14 45645573 45645573 C T SNP FANCM ENST00000267430 human ensembl 74_37 +1 known nonsense c.3616 p.Q1206* 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 tier1 - - 71 0 0.00 53 23 30.26 FBXO18 0 genome.wustl.edu 37 10 5957704 5957704 + RNA SNP T T A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 5957704 5957704 T A SNP FBXO18 ENST00000460453 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors FBXO18 HGNC ENSG00000134452 tier1 - - 10 0 0.00 6 4 40.00 GABRA4 0 genome.wustl.edu 37 4 46994821 46994821 + RNA SNP T T A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 46994821 46994821 T A SNP GABRA4 ENST00000509316 human ensembl 74_37 -1 known rna NULL NULL 0.207 - - - no_errors GABRA4 HGNC ENSG00000109158 tier1 - - 59 0 0.00 54 14 20.59 GABRA4 0 genome.wustl.edu 37 4 46994821 46994821 + RNA SNP T T A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 46994821 46994821 T A SNP GABRA4 ENST00000509316 human ensembl 74_37 -1 known rna NULL NULL 0.207 - - - no_errors GABRA4 HGNC ENSG00000109158 tier1 - - 66 0 0.00 54 14 20.59 GDF7 0 genome.wustl.edu 37 2 20870289 20870289 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 20870289 20870289 G A SNP GDF7 ENST00000272224 human ensembl 74_37 +1 known missense c.457 p.E153K 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF7 HGNC ENSG00000143869 tier1 - - 63 0 0.00 44 22 33.33 GDF7 0 genome.wustl.edu 37 2 20870289 20870289 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 20870289 20870289 G A SNP GDF7 ENST00000272224 human ensembl 74_37 +1 known missense c.457 p.E153K 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF7 HGNC ENSG00000143869 tier1 - - 72 0 0.00 44 22 33.33 GHSR 0 genome.wustl.edu 37 3 172165868 172165868 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 172165868 172165868 G A SNP GHSR ENST00000241256 human ensembl 74_37 -1 known silent c.336 p.G112 0.982 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn - no_errors GHSR HGNC ENSG00000121853 19 0 0.00 28 3 9.68 GPAM 0 genome.wustl.edu 37 10 113921486 113921486 + Missense_Mutation SNP T T A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 113921486 113921486 T A SNP GPAM ENST00000348367 human ensembl 74_37 -1 known missense c.1433 p.K478M 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GPAM HGNC ENSG00000119927 tier1 - - 34 0 0.00 22 10 31.25 GPAM 0 genome.wustl.edu 37 10 113921486 113921486 + Missense_Mutation SNP T T A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 113921486 113921486 T A SNP GPAM ENST00000348367 human ensembl 74_37 -1 known missense c.1433 p.K478M 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GPAM HGNC ENSG00000119927 tier1 - - 44 0 0.00 22 10 31.25 GPR110 0 genome.wustl.edu 37 6 46976809 46976809 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 46976809 46976809 G T SNP GPR110 ENST00000371253 human ensembl 74_37 -1 known missense c.2362 p.R788S 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_Ig-hepta_rcpt 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 - - 72 0 0.00 62 4 6.06 GPR110 0 genome.wustl.edu 37 6 46976809 46976809 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 46976809 46976809 G T SNP GPR110 ENST00000371253 human ensembl 74_37 -1 known missense c.2362 p.R788S 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_Ig-hepta_rcpt 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 - - 90 0 0.00 62 4 6.06 GPR158 0 genome.wustl.edu 37 10 25888059 25888059 + Silent SNP A A T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 25888059 25888059 A T SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known silent c.3504 p.R1168 0.991 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 25 0 0.00 8 6 42.86 GPR158 0 genome.wustl.edu 37 10 25888059 25888059 + Silent SNP A A T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 25888059 25888059 A T SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known silent c.3504 p.R1168 0.991 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 26 0 0.00 8 6 42.86 GPR158 0 genome.wustl.edu 37 10 25888066 25888066 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 25888066 25888066 G A SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.3511 p.V1171I 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 20 0 0.00 8 6 42.86 GPR158 0 genome.wustl.edu 37 10 25888066 25888066 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 25888066 25888066 G A SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.3511 p.V1171I 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 24 0 0.00 8 6 42.86 GPR87 0 genome.wustl.edu 37 3 151012365 151012365 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 151012365 151012365 G A SNP GPR87 ENST00000260843 human ensembl 74_37 -1 known silent c.669 p.I223 0.109 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors GPR87 HGNC ENSG00000138271 tier1 rs149315251 - 24 0 0.00 20 9 31.03 GPR87 0 genome.wustl.edu 37 3 151012365 151012365 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 151012365 151012365 G A SNP GPR87 ENST00000260843 human ensembl 74_37 -1 known silent c.669 p.I223 0.109 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors GPR87 HGNC ENSG00000138271 tier1 rs149315251 - 25 0 0.00 20 9 31.03 GREB1L 0 genome.wustl.edu 37 18 18981267 18981267 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 18 18981267 18981267 G A SNP GREB1L ENST00000424526 human ensembl 74_37 +1 known missense c.689 p.G230E 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1L HGNC ENSG00000141449 tier1 - - 46 0 0.00 29 22 43.14 GREB1L 0 genome.wustl.edu 37 18 18981267 18981267 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 18 18981267 18981267 G A SNP GREB1L ENST00000424526 human ensembl 74_37 +1 known missense c.689 p.G230E 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1L HGNC ENSG00000141449 tier1 - - 56 0 0.00 29 22 43.14 GRID1 0 genome.wustl.edu 37 10 87484373 87484373 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 87484373 87484373 A C SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.1594 p.F532V 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 tier1 - - 21 0 0.00 16 5 23.81 GRID1 0 genome.wustl.edu 37 10 87484373 87484373 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 87484373 87484373 A C SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.1594 p.F532V 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 tier1 - - 23 0 0.00 16 5 23.81 GRIK3 0 genome.wustl.edu 37 1 37271783 37271783 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 37271783 37271783 C T SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.2236 p.V746I 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 GRIK3 HGNC ENSG00000163873 tier1 rs142411639 - 105 0 0.00 55 6 9.84 GRIK3 0 genome.wustl.edu 37 1 37271783 37271783 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 37271783 37271783 C T SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.2236 p.V746I 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 GRIK3 HGNC ENSG00000163873 tier1 rs142411639 - 125 0 0.00 55 6 9.84 GRIK3 0 genome.wustl.edu 37 1 37337907 37337907 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 37337907 37337907 C T SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.614 p.R205H 1.000 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 - - 29 0 0.00 23 9 28.12 GRIK3 0 genome.wustl.edu 37 1 37337907 37337907 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 37337907 37337907 C T SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.614 p.R205H 1.000 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 - - 43 0 0.00 23 9 28.12 GRIN2B 0 genome.wustl.edu 37 12 13769499 13769499 + Silent SNP C C G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 12 13769499 13769499 C G SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known silent c.1218 p.L406 1.000 NULL 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 - - 85 0 0.00 64 4 5.88 GRIN2B 0 genome.wustl.edu 37 12 13769499 13769499 + Silent SNP C C G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 12 13769499 13769499 C G SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known silent c.1218 p.L406 1.000 NULL 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 - - 95 0 0.00 64 4 5.88 GUCY1A2 0 genome.wustl.edu 37 11 106558367 106558367 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 106558367 106558367 G T SNP GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known missense c.2200 p.P734T 1.000 superfamily_A/G_cyclase pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 102 0 0.00 75 4 5.06 GUCY2F 0 genome.wustl.edu 37 X 108708491 108708491 + Silent SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 X 108708491 108708491 G T SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known silent c.912 p.L304 0.816 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 tier1 - - 51 0 0.00 7 29 80.56 GUCY2F 0 genome.wustl.edu 37 X 108708491 108708491 + Silent SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 X 108708491 108708491 G T SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known silent c.912 p.L304 0.816 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 tier1 - - 54 0 0.00 7 29 80.56 HCN2 0 genome.wustl.edu 37 19 613434 613434 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 613434 613434 G A SNP HCN2 ENST00000251287 human ensembl 74_37 +1 known missense c.1771 p.V591M 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC ENSG00000099822 tier1 - - 23 0 0.00 9 5 35.71 HCN2 0 genome.wustl.edu 37 19 613434 613434 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 613434 613434 G A SNP HCN2 ENST00000251287 human ensembl 74_37 +1 known missense c.1771 p.V591M 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC ENSG00000099822 tier1 - - 27 0 0.00 9 5 35.71 HMCN1 0 genome.wustl.edu 37 1 186099193 186099193 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 186099193 186099193 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.13000 p.V4334I 0.979 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 57 0 0.00 42 10 19.23 HMCN1 0 genome.wustl.edu 37 1 186099193 186099193 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 186099193 186099193 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.13000 p.V4334I 0.979 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 62 0 0.00 42 10 19.23 HOOK1 0 genome.wustl.edu 37 1 60333961 60333961 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 60333961 60333961 G T SNP HOOK1 ENST00000371208 human ensembl 74_37 +1 known missense c.1885 p.A629S 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin - no_errors HOOK1 HGNC ENSG00000134709 tier1 - - 50 0 0.00 19 22 53.66 HOOK1 0 genome.wustl.edu 37 1 60333961 60333961 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 60333961 60333961 G T SNP HOOK1 ENST00000371208 human ensembl 74_37 +1 known missense c.1885 p.A629S 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin - no_errors HOOK1 HGNC ENSG00000134709 tier1 - - 67 0 0.00 19 22 53.66 HYKK 0 genome.wustl.edu 37 15 78825722 78825722 + Missense_Mutation SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 15 78825722 78825722 A G SNP HYKK ENST00000388988 human ensembl 74_37 +1 known missense c.832 p.K278E 0.035 pfam_Aminoglycoside_PTrfase pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors HYKK HGNC ENSG00000188266 tier1 - - 100 0 0.00 41 48 53.93 HYKK 0 genome.wustl.edu 37 15 78825722 78825722 + Missense_Mutation SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 15 78825722 78825722 A G SNP HYKK ENST00000388988 human ensembl 74_37 +1 known missense c.832 p.K278E 0.035 pfam_Aminoglycoside_PTrfase pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors HYKK HGNC ENSG00000188266 tier1 - - 106 0 0.00 41 48 53.93 IRAK4 0 genome.wustl.edu 37 12 44166789 44166789 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 12 44166789 44166789 G T SNP IRAK4 ENST00000448290 human ensembl 74_37 +1 known missense c.565 p.G189C 1.000 pirsf_IL-1_rcpt-assoc_kin4,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_IL-1_rcpt-assoc_kin4,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_DEATH-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 IRAK4 HGNC ENSG00000198001 tier1 - - 63 0 0.00 24 15 38.46 IRAK4 0 genome.wustl.edu 37 12 44166789 44166789 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 12 44166789 44166789 G T SNP IRAK4 ENST00000448290 human ensembl 74_37 +1 known missense c.565 p.G189C 1.000 pirsf_IL-1_rcpt-assoc_kin4,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_IL-1_rcpt-assoc_kin4,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_DEATH-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 IRAK4 HGNC ENSG00000198001 tier1 - - 67 0 0.00 24 15 38.46 IRAK4 0 genome.wustl.edu 37 12 44166790 44166790 + Splice_Site SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 12 44166790 44166790 G T SNP IRAK4 ENST00000552309 human ensembl 74_37 +1 known splice_site c.183+1 e2+1 0.999 - - - no_errors IRAK4 HGNC ENSG00000198001 tier1 - - 63 0 0.00 24 15 38.46 JAKMIP2 0 genome.wustl.edu 37 5 147040774 147040774 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 5 147040774 147040774 G A SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known missense c.364 p.R122C 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 tier1 - - 59 0 0.00 18 29 61.70 JAKMIP2 0 genome.wustl.edu 37 5 147040774 147040774 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 5 147040774 147040774 G A SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known missense c.364 p.R122C 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 tier1 - - 76 0 0.00 18 29 61.70 JAKMIP3 0 genome.wustl.edu 37 10 133954069 133954069 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 133954069 133954069 G A SNP JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known missense c.1459 p.D487N 0.963 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 tier1 - - 136 0 0.00 62 20 24.39 JAKMIP3 0 genome.wustl.edu 37 10 133954069 133954069 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 133954069 133954069 G A SNP JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known missense c.1459 p.D487N 0.963 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 tier1 - - 141 0 0.00 62 20 24.39 JMJD1C 0 genome.wustl.edu 37 10 64976993 64976993 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 64976993 64976993 G T SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.652 p.R218S 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 tier1 - - 49 0 0.00 28 4 12.50 JMJD1C 0 genome.wustl.edu 37 10 64976993 64976993 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 64976993 64976993 G T SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.652 p.R218S 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 tier1 - - 55 0 0.00 28 4 12.50 KALRN 0 genome.wustl.edu 37 3 124420960 124420960 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 124420960 124420960 G A SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.8072 p.G2691E 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_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 tier1 - - 70 0 0.00 45 9 16.67 KALRN 0 genome.wustl.edu 37 3 124420960 124420960 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 124420960 124420960 G A SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.8072 p.G2691E 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_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 tier1 - - 78 0 0.00 45 9 16.67 KCNG1 0 genome.wustl.edu 37 20 49626152 49626152 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 20 49626152 49626152 C T SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.724 p.V242I 0.678 prints_K_chnl 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_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 tier1 - - 18 0 0.00 12 3 20.00 KCNJ4 0 genome.wustl.edu 37 22 38823524 38823524 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 22 38823524 38823524 C T SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known missense c.614 p.R205H 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_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 tier1 - - 38 0 0.00 19 14 42.42 KCNJ4 0 genome.wustl.edu 37 22 38823524 38823524 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 22 38823524 38823524 C T SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known missense c.614 p.R205H 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_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 tier1 - - 57 0 0.00 19 14 42.42 KCNK13 0 genome.wustl.edu 37 14 90650580 90650580 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 14 90650580 90650580 G A SNP KCNK13 ENST00000282146 human ensembl 74_37 +1 known missense c.460 p.A154T 1.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 tier1 - - 30 0 0.00 20 12 37.50 KCNK13 0 genome.wustl.edu 37 14 90650580 90650580 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 14 90650580 90650580 G A SNP KCNK13 ENST00000282146 human ensembl 74_37 +1 known missense c.460 p.A154T 1.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 tier1 - - 44 0 0.00 20 12 37.50 KCNK15 0 genome.wustl.edu 37 20 43379389 43379389 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 20 43379389 43379389 C T SNP KCNK15 ENST00000372861 human ensembl 74_37 +1 known silent c.903 p.R301 0.066 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_TASK5,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl - no_errors KCNK15 HGNC ENSG00000124249 tier1 - - 18 0 0.00 5 4 44.44 KCNK15 0 genome.wustl.edu 37 20 43379389 43379389 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 20 43379389 43379389 C T SNP KCNK15 ENST00000372861 human ensembl 74_37 +1 known silent c.903 p.R301 0.066 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_TASK5,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl - no_errors KCNK15 HGNC ENSG00000124249 tier1 - - 21 0 0.00 5 4 44.44 KCNMA1 0 genome.wustl.edu 37 10 78880764 78880764 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 78880764 78880764 T C SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.851 p.E284G 1.000 pfam_Ion_trans_dom 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 - - 63 0 0.00 29 23 44.23 KCNMB2 0 genome.wustl.edu 37 3 178538392 178538392 + RNA SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 178538392 178538392 T C SNP KCNMB2 ENST00000436247 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors KCNMB2 HGNC ENSG00000197584 tier1 - - 66 0 0.00 57 4 6.56 KCNMB2 0 genome.wustl.edu 37 3 178538392 178538392 + RNA SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 178538392 178538392 T C SNP KCNMB2 ENST00000436247 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors KCNMB2 HGNC ENSG00000197584 tier1 - - 71 0 0.00 57 4 6.56 KDM2A 0 genome.wustl.edu 37 11 67023823 67023823 + RNA DEL A A - TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 67023823 67023823 A - DEL KDM2A ENST00000524657 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors KDM2A HGNC ENSG00000173120 tier1 21 0 0.00 13 3 18.75 KGFLP2 0 genome.wustl.edu 37 9 41962641 41962641 + RNA SNP G G C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 9 41962641 41962641 G C SNP KGFLP2 ENST00000454645 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-204M4.2 Clone_based_vega_gene ENSG00000204837 tier1 - - 439 0 0.00 344 28 7.51 KGFLP2 0 genome.wustl.edu 37 9 41962641 41962641 + RNA SNP G G C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 9 41962641 41962641 G C SNP KGFLP2 ENST00000454645 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-204M4.2 Clone_based_vega_gene ENSG00000204837 tier1 - - 443 0 0.00 344 28 7.51 KIDINS220 0 genome.wustl.edu 37 2 8890383 8890383 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 8890383 8890383 C T SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known silent c.3273 p.A1091 0.000 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 tier1 - - 27 0 0.00 19 4 17.39 KIDINS220 0 genome.wustl.edu 37 2 8890383 8890383 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 8890383 8890383 C T SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known silent c.3273 p.A1091 0.000 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 tier1 - - 28 0 0.00 19 4 17.39 KIR2DL2 0 genome.wustl.edu 37 GL000209.1 73926 73926 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 GL000209.1 73926 73926 C T SNP KIR2DL2 ENST00000400847 human ensembl 74_37 +1 known silent c.588 p.Y196 NULL smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL2 HGNC ENSG00000215764 tier1 - - 111 0 0.00 15 42 73.68 KIR2DL2 0 genome.wustl.edu 37 GL000209.1 73926 73926 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 GL000209.1 73926 73926 C T SNP KIR2DL2 ENST00000400847 human ensembl 74_37 +1 known silent c.588 p.Y196 NULL smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL2 HGNC ENSG00000215764 tier1 - - 86 0 0.00 15 42 73.68 KLHL18 0 genome.wustl.edu 37 3 47371501 47371501 + Silent SNP G G C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 47371501 47371501 G C SNP KLHL18 ENST00000232766 human ensembl 74_37 +1 known silent c.462 p.V154 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL18 HGNC ENSG00000114648 tier1 - - 64 0 0.00 23 5 17.86 KLHL18 0 genome.wustl.edu 37 3 47371501 47371501 + Silent SNP G G C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 47371501 47371501 G C SNP KLHL18 ENST00000232766 human ensembl 74_37 +1 known silent c.462 p.V154 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL18 HGNC ENSG00000114648 tier1 - - 71 0 0.00 23 5 17.86 KMT2D 0 genome.wustl.edu 37 12 49426583 49426583 + Nonsense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 12 49426583 49426583 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known nonsense c.11905 p.Q3969* 0.013 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 76 0 0.00 35 14 28.57 KMT2D 0 genome.wustl.edu 37 12 49426583 49426583 + Nonsense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 12 49426583 49426583 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known nonsense c.11905 p.Q3969* 0.013 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 85 0 0.00 35 14 28.57 KMT2D 0 genome.wustl.edu 37 12 49433280 49433280 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 12 49433280 49433280 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.8167 p.E2723K 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 47 0 0.00 15 9 37.50 KMT2D 0 genome.wustl.edu 37 12 49433280 49433280 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 12 49433280 49433280 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.8167 p.E2723K 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 50 0 0.00 15 9 37.50 KRTAP1-3 0 genome.wustl.edu 37 17 39191010 39191010 + Missense_Mutation SNP A A T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 17 39191010 39191010 A T SNP KRTAP1-3 ENST00000344363 human ensembl 74_37 -1 known missense c.64 p.S22T 0.997 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-3 HGNC ENSG00000221880 100 0 0.00 86 8 8.51 LAMA5 0 genome.wustl.edu 37 20 60902360 60902360 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 20 60902360 60902360 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.5041 p.V1681M 0.000 pfscan_Laminin_B_type_IV pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,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,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 rs147438795 - 61 0 0.00 32 16 33.33 LAMA5 0 genome.wustl.edu 37 20 60902360 60902360 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 20 60902360 60902360 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.5041 p.V1681M 0.000 pfscan_Laminin_B_type_IV pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,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,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 rs147438795 - 87 0 0.00 32 16 33.33 LHFPL3 0 genome.wustl.edu 37 7 103969419 103969419 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 103969419 103969419 C T SNP LHFPL3 ENST00000535008 human ensembl 74_37 +1 known silent c.192 p.G64 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL3 HGNC ENSG00000187416 tier1 - - 38 0 0.00 28 12 30.00 LHFPL3 0 genome.wustl.edu 37 7 103969419 103969419 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 103969419 103969419 C T SNP LHFPL3 ENST00000535008 human ensembl 74_37 +1 known silent c.192 p.G64 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL3 HGNC ENSG00000187416 tier1 - - 46 0 0.00 28 12 30.00 LINC00617 0 genome.wustl.edu 37 14 96389361 96389361 + RNA SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 14 96389361 96389361 C T SNP LINC00617 ENST00000503525 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00617 HGNC ENSG00000250366 tier1 - - 20 0 0.00 9 7 43.75 LMO7 0 genome.wustl.edu 37 13 76374826 76374826 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 76374826 76374826 G A SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known missense c.625 p.E209K 1.000 superfamily_CH-domain pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 tier1 rs200309758 - 51 0 0.00 68 4 5.56 LMO7 0 genome.wustl.edu 37 13 76374826 76374826 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 76374826 76374826 G A SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known missense c.625 p.E209K 1.000 superfamily_CH-domain pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 tier1 rs200309758 - 64 0 0.00 68 4 5.56 LOC101927345 0 genome.wustl.edu 37 1 143391669 143391669 + RNA SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 143391669 143391669 A C SNP LOC101927345 ENST00000412492 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 310 0 0.00 203 63 23.60 LOC101927345 0 genome.wustl.edu 37 1 143391669 143391669 + RNA SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 143391669 143391669 A C SNP LOC101927345 ENST00000412492 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 320 0 0.00 203 63 23.60 LOC101930008 0 genome.wustl.edu 37 16 16418925 16418925 + RNA SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 16 16418925 16418925 C T SNP LOC101930008 ENST00000537112 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC138969.4 Clone_based_vega_gene ENSG00000183889 tier1 - - 24 0 0.00 4 2 33.33 LOC101930008 0 genome.wustl.edu 37 16 16418925 16418925 + RNA SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 16 16418925 16418925 C T SNP LOC101930008 ENST00000537112 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC138969.4 Clone_based_vega_gene ENSG00000183889 tier1 - - 26 0 0.00 4 2 33.33 LOC441666 0 genome.wustl.edu 37 10 42848290 42848290 + RNA SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 42848290 42848290 A C SNP LOC441666 ENST00000609502 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors RP11-313J2.1 Clone_based_vega_gene ENSG00000215146 tier1 - - 87 0 0.00 62 27 30.34 LOC441666 0 genome.wustl.edu 37 10 42848290 42848290 + RNA SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 42848290 42848290 A C SNP LOC441666 ENST00000609502 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors RP11-313J2.1 Clone_based_vega_gene ENSG00000215146 tier1 - - 89 0 0.00 62 27 30.34 LOC644669 0 genome.wustl.edu 37 18 15323305 15323305 + RNA SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 18 15323305 15323305 T G SNP LOC644669 ENST00000455308 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors AP005901.1 Clone_based_vega_gene ENSG00000215512 tier1 - - 106 0 0.00 46 7 13.21 LOC644669 0 genome.wustl.edu 37 18 15323305 15323305 + RNA SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 18 15323305 15323305 T G SNP LOC644669 ENST00000455308 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors AP005901.1 Clone_based_vega_gene ENSG00000215512 tier1 - - 92 0 0.00 46 7 13.21 LRBA 0 genome.wustl.edu 37 4 151817569 151817569 + Missense_Mutation SNP T T A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 151817569 151817569 T A SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.2044 p.N682Y 1.000 superfamily_ARM-type_fold 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 - no_errors LRBA HGNC ENSG00000198589 tier1 - - 68 0 0.00 50 16 24.24 LRBA 0 genome.wustl.edu 37 4 151817569 151817569 + Missense_Mutation SNP T T A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 151817569 151817569 T A SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.2044 p.N682Y 1.000 superfamily_ARM-type_fold 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 - no_errors LRBA HGNC ENSG00000198589 tier1 - - 69 0 0.00 50 16 24.24 LRP12 0 genome.wustl.edu 37 8 105507424 105507424 + Missense_Mutation SNP G G C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 105507424 105507424 G C SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1537 p.Q513E 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 tier1 - - 25 0 0.00 31 10 24.39 LRP12 0 genome.wustl.edu 37 8 105507424 105507424 + Missense_Mutation SNP G G C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 105507424 105507424 G C SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1537 p.Q513E 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 tier1 - - 34 0 0.00 31 10 24.39 LRP1B 0 genome.wustl.edu 37 2 141597656 141597656 + Splice_Site SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 141597656 141597656 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known splice_site c.5115-2 e31-2 1.000 - - - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 35 0 0.00 19 8 29.63 LRP1B 0 genome.wustl.edu 37 2 141597656 141597656 + Splice_Site SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 141597656 141597656 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known splice_site c.5115-2 e31-2 1.000 - - - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 36 0 0.00 19 8 29.63 LRP2 0 genome.wustl.edu 37 2 170072829 170072829 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 170072829 170072829 G T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.5760 p.H1920Q 0.024 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,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 59 0 0.00 32 10 23.81 LRP2 0 genome.wustl.edu 37 2 170072829 170072829 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 170072829 170072829 G T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.5760 p.H1920Q 0.024 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,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 65 0 0.00 32 10 23.81 LRRC37A4P 0 genome.wustl.edu 37 17 43592301 43592301 + RNA SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 17 43592301 43592301 G A SNP LRRC37A4P ENST00000579913 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LRRC37A4P HGNC ENSG00000214425 tier1 - - 25 0 0.00 53 14 20.90 LRRC7 0 genome.wustl.edu 37 1 70486774 70486774 + Missense_Mutation SNP G G C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 70486774 70486774 G C SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.1393 p.D465H 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 tier1 - - 108 0 0.00 56 19 25.33 LRRC7 0 genome.wustl.edu 37 1 70486774 70486774 + Missense_Mutation SNP G G C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 70486774 70486774 G C SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.1393 p.D465H 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 tier1 - - 98 0 0.00 56 19 25.33 LRRC8C 0 genome.wustl.edu 37 1 90180085 90180085 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 90180085 90180085 C T SNP LRRC8C ENST00000370454 human ensembl 74_37 +1 known silent c.1956 p.I652 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 tier1 - - 30 0 0.00 13 15 51.72 LRRC8C 0 genome.wustl.edu 37 1 90180085 90180085 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 90180085 90180085 C T SNP LRRC8C ENST00000370454 human ensembl 74_37 +1 known silent c.1956 p.I652 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 tier1 - - 37 0 0.00 13 15 51.72 MAGEE1 0 genome.wustl.edu 37 X 75649101 75649101 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 X 75649101 75649101 G A SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.778 p.V260M 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 tier1 - - 15 0 0.00 2 14 87.50 MAGEE1 0 genome.wustl.edu 37 X 75649101 75649101 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 X 75649101 75649101 G A SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.778 p.V260M 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 tier1 - - 23 0 0.00 2 14 87.50 MAN2B1 0 genome.wustl.edu 37 19 12775735 12775735 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 12775735 12775735 G A SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known silent c.501 p.A167 1.000 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 tier1 - - 25 0 0.00 13 8 38.10 MAN2B1 0 genome.wustl.edu 37 19 12775735 12775735 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 12775735 12775735 G A SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known silent c.501 p.A167 1.000 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 tier1 - - 43 0 0.00 13 8 38.10 MARCO 0 genome.wustl.edu 37 2 119731921 119731921 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 119731921 119731921 A C SNP MARCO ENST00000327097 human ensembl 74_37 +1 known missense c.473 p.H158P 0.001 pfam_Collagen pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 tier1 - - 56 0 0.00 22 27 55.10 MARCO 0 genome.wustl.edu 37 2 119731921 119731921 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 119731921 119731921 A C SNP MARCO ENST00000327097 human ensembl 74_37 +1 known missense c.473 p.H158P 0.001 pfam_Collagen pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 tier1 - - 87 0 0.00 22 27 55.10 MATK 0 genome.wustl.edu 37 19 3784173 3784173 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 3784173 3784173 G A SNP MATK ENST00000395045 human ensembl 74_37 -1 known missense c.314 p.A105V 0.011 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain 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 - - 64 0 0.00 24 17 41.46 MATK 0 genome.wustl.edu 37 19 3784173 3784173 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 3784173 3784173 G A SNP MATK ENST00000395045 human ensembl 74_37 -1 known missense c.314 p.A105V 0.011 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain 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 - - 77 0 0.00 24 17 41.46 MDGA1 0 genome.wustl.edu 37 6 37626179 37626179 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 37626179 37626179 G A SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known missense c.224 p.T75M 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,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_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 tier1 - - 76 0 0.00 51 7 12.07 MDGA1 0 genome.wustl.edu 37 6 37626179 37626179 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 37626179 37626179 G A SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known missense c.224 p.T75M 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,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_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 tier1 - - 90 0 0.00 51 7 12.07 MISP 0 genome.wustl.edu 37 19 757291 757291 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 757291 757291 C T SNP MISP ENST00000215582 human ensembl 74_37 +1 known silent c.345 p.D115 0.000 NULL NULL - no_errors MISP HGNC ENSG00000099812 tier1 - - 46 0 0.00 17 5 22.73 MISP 0 genome.wustl.edu 37 19 757291 757291 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 757291 757291 C T SNP MISP ENST00000215582 human ensembl 74_37 +1 known silent c.345 p.D115 0.000 NULL NULL - no_errors MISP HGNC ENSG00000099812 tier1 - - 48 0 0.00 17 5 22.73 MMP16 0 genome.wustl.edu 37 8 89086955 89086955 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 89086955 89086955 C T SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.1100 p.R367Q 1.000 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 tier1 - - 68 0 0.00 86 16 15.69 MSH2 0 genome.wustl.edu 37 2 47637242 47637242 + Frame_Shift_Del DEL G G - TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 47637242 47637242 G - DEL MSH2 ENST00000233146 human ensembl 74_37 +1 known frame_shift_del c.376 p.G126fs 1.000 pfam_DNA_mismatch_repair_MutS-lik_N,pirsf_DNA_mismatch_repair_MSH2 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_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 tier1 44 0 0.00 35 2 5.41 MSH2 0 genome.wustl.edu 37 2 47637242 47637242 + Frame_Shift_Del DEL G G - TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 47637242 47637242 G - DEL MSH2 ENST00000233146 human ensembl 74_37 +1 known frame_shift_del c.376 p.G126fs 1.000 pfam_DNA_mismatch_repair_MutS-lik_N,pirsf_DNA_mismatch_repair_MSH2 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_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 tier1 52 0 0.00 35 2 5.41 MTUS2 0 genome.wustl.edu 37 13 29601027 29601027 + Missense_Mutation SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 29601027 29601027 A G SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2222 p.K741R 1.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 17 0 0.00 7 7 50.00 MTUS2 0 genome.wustl.edu 37 13 29601027 29601027 + Missense_Mutation SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 29601027 29601027 A G SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2222 p.K741R 1.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 22 0 0.00 7 7 50.00 MUC12 0 genome.wustl.edu 37 7 100643116 100643116 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 100643116 100643116 C T SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.9272 p.A3091V 0.000 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 26 0 0.00 48 8 14.29 MYH4 0 genome.wustl.edu 37 17 10362574 10362574 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 17 10362574 10362574 G A SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known silent c.1581 p.I527 0.470 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 tier1 - - 113 0 0.00 64 11 14.67 MYH4 0 genome.wustl.edu 37 17 10362574 10362574 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 17 10362574 10362574 G A SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known silent c.1581 p.I527 0.470 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 tier1 - - 119 0 0.00 64 11 14.67 NALCN 0 genome.wustl.edu 37 13 101890257 101890257 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 101890257 101890257 A C SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.1283 p.L428R 0.998 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 - - 33 0 0.00 22 23 51.11 NALCN 0 genome.wustl.edu 37 13 101890257 101890257 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 101890257 101890257 A C SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.1283 p.L428R 0.998 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 - - 41 0 0.00 22 23 51.11 NBEA 0 genome.wustl.edu 37 13 35733224 35733224 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 35733224 35733224 C T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known silent c.2916 p.N972 1.000 NULL 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 - - 32 0 0.00 23 15 39.47 NBEA 0 genome.wustl.edu 37 13 35733224 35733224 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 35733224 35733224 C T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known silent c.2916 p.N972 1.000 NULL 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 - - 34 0 0.00 23 15 39.47 NBEA 0 genome.wustl.edu 37 13 36141112 36141112 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 36141112 36141112 G T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.6993 p.E2331D 0.999 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom 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 - - 47 0 0.00 54 4 6.90 NBEA 0 genome.wustl.edu 37 13 36141112 36141112 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 36141112 36141112 G T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.6993 p.E2331D 0.999 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom 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 - - 53 0 0.00 54 4 6.90 NCF1B 0 genome.wustl.edu 37 7 72639938 72639938 + RNA SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 72639938 72639938 G A SNP NCF1B ENST00000432102 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors NCF1B HGNC ENSG00000182487 tier1 - - 121 0 0.00 84 47 35.88 NCF1B 0 genome.wustl.edu 37 7 72639938 72639938 + RNA SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 72639938 72639938 G A SNP NCF1B ENST00000432102 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors NCF1B HGNC ENSG00000182487 tier1 - - 148 0 0.00 84 47 35.88 NETO1 0 genome.wustl.edu 37 18 70417823 70417823 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 18 70417823 70417823 T C SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known missense c.1015 p.T339A 1.000 superfamily_LDrepeatLR_classA_rpt 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 - no_errors NETO1 HGNC ENSG00000166342 tier1 - - 44 0 0.00 24 12 33.33 NETO1 0 genome.wustl.edu 37 18 70417823 70417823 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 18 70417823 70417823 T C SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known missense c.1015 p.T339A 1.000 superfamily_LDrepeatLR_classA_rpt 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 - no_errors NETO1 HGNC ENSG00000166342 tier1 - - 78 0 0.00 24 12 33.33 NLGN4X 0 genome.wustl.edu 37 X 6069063 6069063 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 X 6069063 6069063 A C SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.445 p.L149V 0.924 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 tier1 - - 44 0 0.00 9 34 79.07 NLGN4X 0 genome.wustl.edu 37 X 6069063 6069063 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 X 6069063 6069063 A C SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.445 p.L149V 0.924 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 tier1 - - 62 0 0.00 9 34 79.07 NMNAT1 0 genome.wustl.edu 37 1 10035719 10035719 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 10035719 10035719 C T SNP NMNAT1 ENST00000377205 human ensembl 74_37 +1 known missense c.185 p.P62L 1.000 pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase - no_errors NMNAT1 HGNC ENSG00000173614 tier1 - - 76 0 0.00 25 39 60.94 NMNAT1 0 genome.wustl.edu 37 1 10035719 10035719 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 10035719 10035719 C T SNP NMNAT1 ENST00000377205 human ensembl 74_37 +1 known missense c.185 p.P62L 1.000 pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase - no_errors NMNAT1 HGNC ENSG00000173614 tier1 - - 77 0 0.00 25 39 60.94 NOX4 0 genome.wustl.edu 37 11 89165982 89165982 + Missense_Mutation SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 89165982 89165982 A G SNP NOX4 ENST00000413594 human ensembl 74_37 -1 known missense c.581 p.L194P 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX4 HGNC ENSG00000086991 21 0 0.00 14 2 12.50 NPIPA1 0 genome.wustl.edu 37 16 15024823 15024823 + RNA SNP C C G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 16 15024823 15024823 C G SNP NPIPA1 ENST00000472413 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NPIPA1 HGNC ENSG00000183426 tier1 - - 38 0 0.00 31 5 13.89 NRCAM 0 genome.wustl.edu 37 7 107866669 107866669 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 107866669 107866669 G T SNP NRCAM ENST00000379028 human ensembl 74_37 -1 known missense c.704 p.S235Y 1.000 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 - - 76 0 0.00 44 4 8.33 NRCAM 0 genome.wustl.edu 37 7 107866669 107866669 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 107866669 107866669 G T SNP NRCAM ENST00000379028 human ensembl 74_37 -1 known missense c.704 p.S235Y 1.000 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 - - 80 0 0.00 44 4 8.33 NRG1 0 genome.wustl.edu 37 8 32607094 32607094 + Missense_Mutation SNP A A T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 32607094 32607094 A T SNP NRG1 ENST00000356819 human ensembl 74_37 +1 known missense c.707 p.E236V 1.000 NULL pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 tier1 - - 58 0 0.00 52 26 33.33 NRG1 0 genome.wustl.edu 37 8 32607094 32607094 + Missense_Mutation SNP A A T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 32607094 32607094 A T SNP NRG1 ENST00000356819 human ensembl 74_37 +1 known missense c.707 p.E236V 1.000 NULL pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 tier1 - - 59 0 0.00 52 26 33.33 OLFM4 0 genome.wustl.edu 37 13 53608501 53608501 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 53608501 53608501 G A SNP OLFM4 ENST00000219022 human ensembl 74_37 +1 known missense c.223 p.G75S 0.995 NULL pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC ENSG00000102837 tier1 - - 74 0 0.00 50 37 42.53 OLFM4 0 genome.wustl.edu 37 13 53608501 53608501 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 53608501 53608501 G A SNP OLFM4 ENST00000219022 human ensembl 74_37 +1 known missense c.223 p.G75S 0.995 NULL pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC ENSG00000102837 tier1 - - 93 0 0.00 50 37 42.53 OR10G8 0 genome.wustl.edu 37 11 123901093 123901093 + Missense_Mutation SNP T T A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 123901093 123901093 T A SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known missense c.764 p.L255H 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 tier1 - - 178 0 0.00 96 71 42.51 OR10G8 0 genome.wustl.edu 37 11 123901093 123901093 + Missense_Mutation SNP T T A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 123901093 123901093 T A SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known missense c.764 p.L255H 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 tier1 - - 214 0 0.00 96 71 42.51 OR14A16 0 genome.wustl.edu 37 1 247978230 247978230 + Missense_Mutation SNP C C A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 247978230 247978230 C A SNP OR14A16 ENST00000357627 human ensembl 74_37 -1 known missense c.802 p.D268Y 0.053 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14A16 HGNC ENSG00000196772 tier1 - - 27 0 0.00 33 7 17.50 OR14A16 0 genome.wustl.edu 37 1 247978230 247978230 + Missense_Mutation SNP C C A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 247978230 247978230 C A SNP OR14A16 ENST00000357627 human ensembl 74_37 -1 known missense c.802 p.D268Y 0.053 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14A16 HGNC ENSG00000196772 tier1 - - 35 0 0.00 33 7 17.50 OR52E2 0 genome.wustl.edu 37 11 5080148 5080148 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 5080148 5080148 T G SNP OR52E2 ENST00000321522 human ensembl 74_37 -1 known missense c.710 p.K237T 1.000 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E2 HGNC ENSG00000176787 tier1 - - 33 0 0.00 14 12 46.15 OR52E2 0 genome.wustl.edu 37 11 5080148 5080148 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 5080148 5080148 T G SNP OR52E2 ENST00000321522 human ensembl 74_37 -1 known missense c.710 p.K237T 1.000 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E2 HGNC ENSG00000176787 tier1 - - 41 0 0.00 14 12 46.15 OR52E8 0 genome.wustl.edu 37 11 5878173 5878173 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 5878173 5878173 A C SNP OR52E8 ENST00000537935 human ensembl 74_37 -1 known missense c.760 p.L254V 0.978 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 OR52E8 HGNC ENSG00000183269 tier1 - - 33 0 0.00 21 6 22.22 OR52E8 0 genome.wustl.edu 37 11 5878173 5878173 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 5878173 5878173 A C SNP OR52E8 ENST00000537935 human ensembl 74_37 -1 known missense c.760 p.L254V 0.978 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 OR52E8 HGNC ENSG00000183269 tier1 - - 34 0 0.00 21 6 22.22 OR5H14 0 genome.wustl.edu 37 3 97868703 97868703 + Missense_Mutation SNP C C G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 97868703 97868703 C G SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known missense c.474 p.I158M 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H14 HGNC ENSG00000236032 tier1 - - 114 0 0.00 42 47 52.81 OR5H14 0 genome.wustl.edu 37 3 97868703 97868703 + Missense_Mutation SNP C C G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 97868703 97868703 C G SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known missense c.474 p.I158M 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H14 HGNC ENSG00000236032 tier1 - - 119 0 0.00 42 47 52.81 OR8K3 0 genome.wustl.edu 37 11 56086621 56086621 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 56086621 56086621 T C SNP OR8K3 ENST00000312711 human ensembl 74_37 +1 known missense c.839 p.V280A 0.040 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 OR8K3 HGNC ENSG00000181689 tier1 - - 49 0 0.00 32 15 31.91 OR8K3 0 genome.wustl.edu 37 11 56086621 56086621 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 56086621 56086621 T C SNP OR8K3 ENST00000312711 human ensembl 74_37 +1 known missense c.839 p.V280A 0.040 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 OR8K3 HGNC ENSG00000181689 tier1 - - 64 0 0.00 32 15 31.91 OTUD6B 0 genome.wustl.edu 37 8 92082604 92082604 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 92082604 92082604 C T SNP OTUD6B ENST00000285420 human ensembl 74_37 +1 known silent c.82 p.L28 0.000 NULL pfam_OTU,pfam_Peptidase_C65_otubain,pfscan_OTU - no_errors OTUD6B HGNC ENSG00000155100 tier1 - - 108 0 0.00 85 29 25.44 OTUD6B 0 genome.wustl.edu 37 8 92082604 92082604 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 92082604 92082604 C T SNP OTUD6B ENST00000285420 human ensembl 74_37 +1 known silent c.82 p.L28 0.000 NULL pfam_OTU,pfam_Peptidase_C65_otubain,pfscan_OTU - no_errors OTUD6B HGNC ENSG00000155100 tier1 - - 82 0 0.00 85 29 25.44 PCDH10 0 genome.wustl.edu 37 4 134072759 134072759 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 134072759 134072759 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.1464 p.T488 0.427 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 PCDH10 HGNC ENSG00000138650 tier1 - - 35 0 0.00 22 14 38.89 PCDH10 0 genome.wustl.edu 37 4 134072759 134072759 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 134072759 134072759 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.1464 p.T488 0.427 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 PCDH10 HGNC ENSG00000138650 tier1 - - 36 0 0.00 22 14 38.89 PCDH10 0 genome.wustl.edu 37 4 134073022 134073022 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 134073022 134073022 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1727 p.A576V 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 tier1 - - 24 0 0.00 14 5 25.00 PCDH10 0 genome.wustl.edu 37 4 134073022 134073022 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 134073022 134073022 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1727 p.A576V 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 tier1 - - 32 0 0.00 14 5 25.00 PCDH15 0 genome.wustl.edu 37 10 55591078 55591078 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 55591078 55591078 C T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.4199 p.R1400K 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 55 0 0.00 36 19 33.93 PCDH15 0 genome.wustl.edu 37 10 55591078 55591078 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 55591078 55591078 C T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.4199 p.R1400K 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 59 0 0.00 36 19 33.93 PCLO 0 genome.wustl.edu 37 7 82580702 82580702 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 82580702 82580702 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.9202 p.M3068L 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 151 0 0.00 78 89 52.98 PCLO 0 genome.wustl.edu 37 7 82580702 82580702 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 82580702 82580702 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.9202 p.M3068L 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 166 0 0.00 78 89 52.98 PCLO 0 genome.wustl.edu 37 7 82584392 82584392 + Silent SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 82584392 82584392 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.5877 p.S1959 0.980 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 80 0 0.00 71 17 19.32 PDE6B 0 genome.wustl.edu 37 4 661763 661765 + In_Frame_Del DEL AGG AGG - TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 661763 661765 AGG - DEL PDE6B ENST00000496514 human ensembl 74_37 +1 known in_frame_del c.2471_2473 p.E828in_frame_del 1.000:1.000:1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 tier1 24 0 0.00 18 3 14.29 PDE6B 0 genome.wustl.edu 37 4 661763 661765 + In_Frame_Del DEL AGG AGG - TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 661763 661765 AGG - DEL PDE6B ENST00000496514 human ensembl 74_37 +1 known in_frame_del c.2471_2473 p.E828in_frame_del 1.000:1.000:1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 tier1 35 0 0.00 18 3 14.29 PDXDC2P 0 genome.wustl.edu 37 16 70010715 70010715 + RNA SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 16 70010715 70010715 T G SNP PDXDC2P ENST00000531894 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PDXDC2P HGNC ENSG00000196696 tier1 - - 57 0 0.00 34 4 10.53 PDXDC2P 0 genome.wustl.edu 37 16 70010715 70010715 + RNA SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 16 70010715 70010715 T G SNP PDXDC2P ENST00000531894 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PDXDC2P HGNC ENSG00000196696 tier1 - - 64 0 0.00 34 4 10.53 PDZD9 0 genome.wustl.edu 37 16 21995841 21995841 + Missense_Mutation SNP G G C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 16 21995841 21995841 G C SNP PDZD9 ENST00000424898 human ensembl 74_37 -1 known missense c.542 p.S181C 0.135 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD9 HGNC ENSG00000155714 tier1 - - 66 0 0.00 51 17 24.64 PDZD9 0 genome.wustl.edu 37 16 21995841 21995841 + Missense_Mutation SNP G G C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 16 21995841 21995841 G C SNP PDZD9 ENST00000424898 human ensembl 74_37 -1 known missense c.542 p.S181C 0.135 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD9 HGNC ENSG00000155714 tier1 - - 78 0 0.00 51 17 24.64 PEG3 0 genome.wustl.edu 37 19 57326782 57326782 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 57326782 57326782 A C SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.3028 p.L1010V 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 41 0 0.00 29 12 29.27 PEG3 0 genome.wustl.edu 37 19 57326782 57326782 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 57326782 57326782 A C SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.3028 p.L1010V 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 42 0 0.00 29 12 29.27 PER1 0 genome.wustl.edu 37 17 8049732 8049732 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 17 8049732 8049732 C T SNP PER1 ENST00000317276 human ensembl 74_37 -1 known missense c.1996 p.D666N 1.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 tier1 - - 44 0 0.00 21 11 34.38 PER1 0 genome.wustl.edu 37 17 8049732 8049732 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 17 8049732 8049732 C T SNP PER1 ENST00000317276 human ensembl 74_37 -1 known missense c.1996 p.D666N 1.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 tier1 - - 51 0 0.00 21 11 34.38 PHF2P2 0 genome.wustl.edu 37 13 19525936 19525936 + RNA SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 19525936 19525936 G T SNP PHF2P2 ENST00000416576 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PHF2P2 HGNC ENSG00000226057 tier1 - - 64 0 0.00 38 10 20.83 PHF2P2 0 genome.wustl.edu 37 13 19525936 19525936 + RNA SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 19525936 19525936 G T SNP PHF2P2 ENST00000416576 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PHF2P2 HGNC ENSG00000226057 tier1 - - 73 0 0.00 38 10 20.83 PKHD1 0 genome.wustl.edu 37 6 51893046 51893046 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 51893046 51893046 C T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.3468 p.S1156 0.000 superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 - - 36 0 0.00 31 4 11.43 PKHD1 0 genome.wustl.edu 37 6 51893046 51893046 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 51893046 51893046 C T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.3468 p.S1156 0.000 superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 - - 62 0 0.00 31 4 11.43 PKHD1L1 0 genome.wustl.edu 37 8 110457538 110457538 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 110457538 110457538 G A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.5440 p.V1814I 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 25 0 0.00 27 23 46.00 PKHD1L1 0 genome.wustl.edu 37 8 110457538 110457538 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 110457538 110457538 G A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.5440 p.V1814I 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 28 0 0.00 27 23 46.00 PLXNA2 0 genome.wustl.edu 37 1 208390629 208390629 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 208390629 208390629 G A SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known silent c.639 p.L213 0.003 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom 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 PLXNA2 HGNC ENSG00000076356 tier1 - - 58 0 0.00 23 23 50.00 PLXNA2 0 genome.wustl.edu 37 1 208390629 208390629 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 208390629 208390629 G A SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known silent c.639 p.L213 0.003 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom 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 PLXNA2 HGNC ENSG00000076356 tier1 - - 60 0 0.00 23 23 50.00 POM121L2 0 genome.wustl.edu 37 6 27278366 27278366 + Silent SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 27278366 27278366 A C SNP POM121L2 ENST00000444565 human ensembl 74_37 -1 known silent c.1584 p.T528 0.350 NULL NULL - no_errors POM121L2 HGNC ENSG00000158553 tier1 - - 41 0 0.00 38 14 26.92 POM121L2 0 genome.wustl.edu 37 6 27278366 27278366 + Silent SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 27278366 27278366 A C SNP POM121L2 ENST00000444565 human ensembl 74_37 -1 known silent c.1584 p.T528 0.350 NULL NULL - no_errors POM121L2 HGNC ENSG00000158553 tier1 - - 44 0 0.00 38 14 26.92 PPP1R3A 0 genome.wustl.edu 37 7 113519553 113519553 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 113519553 113519553 T G SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.1594 p.K532Q 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 tier1 - - 50 0 0.00 49 9 15.52 PPP1R3A 0 genome.wustl.edu 37 7 113519553 113519553 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 7 113519553 113519553 T G SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.1594 p.K532Q 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 tier1 - - 53 0 0.00 49 9 15.52 PRAMEF6 0 genome.wustl.edu 37 1 13111661 13111661 + Silent SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 13111661 13111661 T C SNP PRAMEF6 ENST00000376182 human ensembl 74_37 -1 known silent c.354 p.E118 0.278 NULL NULL - no_errors PRAMEF6 HGNC ENSG00000232423 tier1 - - 13 0 0.00 4 7 63.64 PREX2 0 genome.wustl.edu 37 8 68934314 68934314 + Missense_Mutation SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 68934314 68934314 A G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.380 p.E127G 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 59 0 0.00 48 31 39.24 PREX2 0 genome.wustl.edu 37 8 68934314 68934314 + Missense_Mutation SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 68934314 68934314 A G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.380 p.E127G 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 61 0 0.00 48 31 39.24 PRICKLE2-AS1 0 genome.wustl.edu 37 3 64082806 64082806 + RNA SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 64082806 64082806 A C SNP PRICKLE2-AS1 ENST00000482609 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-129B22.1 Clone_based_vega_gene ENSG00000241111 tier1 - - 27 0 0.00 15 7 31.82 PRICKLE2-AS1 0 genome.wustl.edu 37 3 64082806 64082806 + RNA SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 64082806 64082806 A C SNP PRICKLE2-AS1 ENST00000482609 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-129B22.1 Clone_based_vega_gene ENSG00000241111 tier1 - - 42 0 0.00 15 7 31.82 PRKD1 0 genome.wustl.edu 37 14 30046521 30046521 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 14 30046521 30046521 T G SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.2662 p.S888R 0.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 tier1 - - 58 0 0.00 35 27 43.55 PRKD1 0 genome.wustl.edu 37 14 30046521 30046521 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 14 30046521 30046521 T G SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.2662 p.S888R 0.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 tier1 - - 59 0 0.00 35 27 43.55 PTCHD3P1 0 genome.wustl.edu 37 10 29776292 29776292 + RNA SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 29776292 29776292 C T SNP PTCHD3P1 ENST00000413405 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PTCHD3P1 HGNC ENSG00000224597 tier1 - - 102 0 0.00 62 38 38.00 PTCHD3P1 0 genome.wustl.edu 37 10 29776292 29776292 + RNA SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 29776292 29776292 C T SNP PTCHD3P1 ENST00000413405 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PTCHD3P1 HGNC ENSG00000224597 tier1 - - 107 0 0.00 62 38 38.00 PTHLH 0 genome.wustl.edu 37 12 28114898 28114898 + Frame_Shift_Del DEL T T - TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 12 28114898 28114898 T - DEL PTHLH ENST00000354417 human ensembl 74_37 -1 known frame_shift_del c.557 p.K186fs 0.135 NULL pfam_PTH/PTH-rel,smart_PTH/PTH-rel - no_errors PTHLH HGNC ENSG00000087494 tier1 25 0 0.00 19 4 17.39 PTPRQ 0 genome.wustl.edu 37 12 80839459 80839459 + Missense_Mutation SNP C C A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 12 80839459 80839459 C A SNP PTPRQ ENST00000266688 human ensembl 74_37 +1 known missense c.352 p.L118I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC ENSG00000139304 tier1 - - 20 0 0.00 9 3 25.00 PTPRQ 0 genome.wustl.edu 37 12 80839459 80839459 + Missense_Mutation SNP C C A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 12 80839459 80839459 C A SNP PTPRQ ENST00000266688 human ensembl 74_37 +1 known missense c.352 p.L118I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC ENSG00000139304 tier1 - - 21 0 0.00 9 3 25.00 PYHIN1 0 genome.wustl.edu 37 1 158914673 158914673 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 158914673 158914673 A C SNP PYHIN1 ENST00000368140 human ensembl 74_37 +1 known missense c.1200 p.K400N 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 44 0 0.00 28 9 24.32 RBFOX3 0 genome.wustl.edu 37 17 77092867 77092867 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 17 77092867 77092867 C T SNP RBFOX3 ENST00000582043 human ensembl 74_37 -1 putative silent c.711 p.L237 1.000 NULL pfam_Fox-1_C_dom,pfam_RRM_dom,pfscan_RRM_dom - no_errors RBFOX3 HGNC ENSG00000167281 tier1 - - 54 0 0.00 39 7 15.22 RBFOX3 0 genome.wustl.edu 37 17 77092867 77092867 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 17 77092867 77092867 C T SNP RBFOX3 ENST00000582043 human ensembl 74_37 -1 putative silent c.711 p.L237 1.000 NULL pfam_Fox-1_C_dom,pfam_RRM_dom,pfscan_RRM_dom - no_errors RBFOX3 HGNC ENSG00000167281 tier1 - - 65 0 0.00 39 7 15.22 RECQL 0 genome.wustl.edu 37 12 21627775 21627775 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 12 21627775 21627775 T C SNP RECQL ENST00000421138 human ensembl 74_37 -1 known missense c.1355 p.K452R 1.000 tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 tier1 - - 42 0 0.00 6 31 83.78 RECQL 0 genome.wustl.edu 37 12 21627775 21627775 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 12 21627775 21627775 T C SNP RECQL ENST00000421138 human ensembl 74_37 -1 known missense c.1355 p.K452R 1.000 tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 tier1 - - 45 0 0.00 6 31 83.78 RET 0 genome.wustl.edu 37 10 43619215 43619215 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 43619215 43619215 C T SNP RET ENST00000355710 human ensembl 74_37 +1 known silent c.2898 p.T966 0.440 pirsf_Tyr_kinase_Ret_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,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 tier1 - - 79 0 0.00 41 16 28.07 RET 0 genome.wustl.edu 37 10 43619215 43619215 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 43619215 43619215 C T SNP RET ENST00000355710 human ensembl 74_37 +1 known silent c.2898 p.T966 0.440 pirsf_Tyr_kinase_Ret_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,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 tier1 - - 81 0 0.00 41 16 28.07 RGPD4 0 genome.wustl.edu 37 2 108487634 108487634 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 108487634 108487634 A C SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.3174 p.K1058N 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 tier1 - - 208 0 0.00 103 82 44.32 RGPD4 0 genome.wustl.edu 37 2 108487634 108487634 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 108487634 108487634 A C SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.3174 p.K1058N 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 tier1 - - 241 0 0.00 103 82 44.32 RGS12 0 genome.wustl.edu 37 4 3417774 3417774 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 3417774 3417774 G A SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.2353 p.D785N 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_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 - - 71 0 0.00 47 8 14.55 RNF103 0 genome.wustl.edu 37 2 86831886 86831886 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 86831886 86831886 G T SNP RNF103 ENST00000237455 human ensembl 74_37 -1 known missense c.1138 p.L380I 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 50 0 0.00 46 4 8.00 RP1 0 genome.wustl.edu 37 8 55534038 55534038 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 55534038 55534038 T C SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.512 p.L171P 0.042 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 43 0 0.00 39 30 43.48 RP1 0 genome.wustl.edu 37 8 55534038 55534038 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 55534038 55534038 T C SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.512 p.L171P 0.042 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 59 0 0.00 39 30 43.48 RYR2 0 genome.wustl.edu 37 1 237886427 237886427 + Splice_Site SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 237886427 237886427 G T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known splice_site c.10549-1 e75-1 1.000 - - - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 137 0 0.00 49 42 46.15 RYR2 0 genome.wustl.edu 37 1 237886427 237886427 + Splice_Site SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 237886427 237886427 G T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known splice_site c.10549-1 e75-1 1.000 - - - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 155 0 0.00 49 42 46.15 SACS 0 genome.wustl.edu 37 13 23904431 23904431 + Silent SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 23904431 23904431 A C SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.13584 p.A4528 0.177 pfam_HEPN,smart_HEPN,pfscan_HEPN 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 - - 50 0 0.00 41 18 30.51 SACS 0 genome.wustl.edu 37 13 23904431 23904431 + Silent SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 23904431 23904431 A C SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.13584 p.A4528 0.177 pfam_HEPN,smart_HEPN,pfscan_HEPN 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 - - 59 0 0.00 41 18 30.51 SCN10A 0 genome.wustl.edu 37 3 38739688 38739689 + Frame_Shift_Ins INS - - C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 38739688 38739689 - C INS SCN10A ENST00000449082 human ensembl 74_37 -1 known frame_shift_ins c.5023_5022 p.P1674fs 0.196:0.165 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 tier1 63 0 0.00 28 9 24.32 SCN10A 0 genome.wustl.edu 37 3 38739688 38739689 + Frame_Shift_Ins INS - - C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 38739688 38739689 - C INS SCN10A ENST00000449082 human ensembl 74_37 -1 known frame_shift_ins c.5023_5022 p.P1674fs 0.196:0.165 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 tier1 64 0 0.00 28 9 24.32 SEC24D 0 genome.wustl.edu 37 4 119666217 119666218 + Splice_Site INS - - A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 119666217 119666218 - A INS SEC24D ENST00000379735 human ensembl 74_37 -1 known splice_site_ins c.1711-3_1711-2 e13-2 1.000:0.975 - - - no_errors SEC24D HGNC ENSG00000150961 tier1 19 0 0.00 21 3 12.50 SEC24D 0 genome.wustl.edu 37 4 119666217 119666218 + Splice_Site INS - - A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 119666217 119666218 - A INS SEC24D ENST00000379735 human ensembl 74_37 -1 known splice_site_ins c.1711-3_1711-2 e13-2 1.000:0.975 - - - no_errors SEC24D HGNC ENSG00000150961 tier1 23 0 0.00 21 3 12.50 SEMA5B 0 genome.wustl.edu 37 3 122647386 122647386 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 122647386 122647386 G T SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.776 p.S259Y 0.995 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 - - 33 0 0.00 10 3 23.08 SEMA5B 0 genome.wustl.edu 37 3 122647386 122647386 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 122647386 122647386 G T SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.776 p.S259Y 0.995 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 - - 45 0 0.00 10 3 23.08 SFRP1 0 genome.wustl.edu 37 8 41166258 41166258 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 41166258 41166258 C T SNP SFRP1 ENST00000220772 human ensembl 74_37 -1 known missense c.421 p.E141K 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP1 HGNC ENSG00000104332 tier1 - - 53 0 0.00 80 5 5.88 SFRP1 0 genome.wustl.edu 37 8 41166258 41166258 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 41166258 41166258 C T SNP SFRP1 ENST00000220772 human ensembl 74_37 -1 known missense c.421 p.E141K 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP1 HGNC ENSG00000104332 tier1 - - 74 0 0.00 80 5 5.88 SHANK1 0 genome.wustl.edu 37 19 51217187 51217187 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 51217187 51217187 C T SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known silent c.660 p.A220 0.089 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 tier1 - - 60 0 0.00 31 7 18.42 SHANK1 0 genome.wustl.edu 37 19 51217187 51217187 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 51217187 51217187 C T SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known silent c.660 p.A220 0.089 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 tier1 - - 82 0 0.00 31 7 18.42 SIRPB2 0 genome.wustl.edu 37 20 1456898 1456898 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 20 1456898 1456898 G A SNP SIRPB2 ENST00000359801 human ensembl 74_37 -1 known missense c.943 p.R315W 0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIRPB2 HGNC ENSG00000196209 tier1 - - 36 0 0.00 17 29 63.04 SIRPB2 0 genome.wustl.edu 37 20 1456898 1456898 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 20 1456898 1456898 G A SNP SIRPB2 ENST00000359801 human ensembl 74_37 -1 known missense c.943 p.R315W 0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIRPB2 HGNC ENSG00000196209 tier1 - - 62 0 0.00 17 29 63.04 SLC25A3P1 0 genome.wustl.edu 37 1 53904142 53904142 + RNA SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 53904142 53904142 G A SNP SLC25A3P1 ENST00000566100 human ensembl 74_37 -1 known rna NULL NULL 0.903 - - - no_errors SLC25A3P1 HGNC ENSG00000236253 tier1 - - 39 0 0.00 22 6 21.43 SLC25A3P1 0 genome.wustl.edu 37 1 53904142 53904142 + RNA SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 53904142 53904142 G A SNP SLC25A3P1 ENST00000566100 human ensembl 74_37 -1 known rna NULL NULL 0.903 - - - no_errors SLC25A3P1 HGNC ENSG00000236253 tier1 - - 40 0 0.00 22 6 21.43 SLCO6A1 0 genome.wustl.edu 37 5 101735341 101735341 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 5 101735341 101735341 A C SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.1732 p.L578V 0.954 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 tier1 - - 61 0 0.00 16 19 54.29 SLCO6A1 0 genome.wustl.edu 37 5 101735341 101735341 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 5 101735341 101735341 A C SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.1732 p.L578V 0.954 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 tier1 - - 68 0 0.00 16 19 54.29 SMC2 0 genome.wustl.edu 37 9 106882419 106882419 + Missense_Mutation SNP C C G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 9 106882419 106882419 C G SNP SMC2 ENST00000286398 human ensembl 74_37 +1 known missense c.2108 p.A703G 0.872 superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 tier1 - - 38 0 0.00 19 18 48.65 SMC2 0 genome.wustl.edu 37 9 106882419 106882419 + Missense_Mutation SNP C C G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 9 106882419 106882419 C G SNP SMC2 ENST00000286398 human ensembl 74_37 +1 known missense c.2108 p.A703G 0.872 superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 tier1 - - 42 0 0.00 19 18 48.65 SMPD3 0 genome.wustl.edu 37 16 68398796 68398796 + Missense_Mutation SNP G G C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 16 68398796 68398796 G C SNP SMPD3 ENST00000219334 human ensembl 74_37 -1 known missense c.1413 p.I471M 0.997 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD3 HGNC ENSG00000103056 58 0 0.00 57 4 6.56 SNHG14 0 genome.wustl.edu 37 15 25453130 25453130 + RNA SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 15 25453130 25453130 A C SNP SNHG14 ENST00000424333 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 59 0 0.00 11 19 63.33 SNHG14 0 genome.wustl.edu 37 15 25453130 25453130 + RNA SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 15 25453130 25453130 A C SNP SNHG14 ENST00000424333 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 74 0 0.00 11 19 63.33 SNORD116-8 0 genome.wustl.edu 37 15 25315598 25315599 + RNA INS - - A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 15 25315598 25315599 - A INS SNORD116-8 ENST00000384365 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors SNORD116-8 HGNC ENSG00000207093 tier1 107 0 0.00 68 16 19.05 SNORD116-8 0 genome.wustl.edu 37 15 25315598 25315599 + RNA INS - - A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 15 25315598 25315599 - A INS SNORD116-8 ENST00000384365 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors SNORD116-8 HGNC ENSG00000207093 tier1 108 0 0.00 68 16 19.05 SNRNP200 0 genome.wustl.edu 37 2 96942904 96942904 + Nonsense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 96942904 96942904 G A SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known nonsense c.6007 p.Q2003* 1.000 pfam_Sec63-dom,smart_Sec63-dom 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_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 tier1 - - 38 0 0.00 19 5 20.83 SNRNP200 0 genome.wustl.edu 37 2 96942904 96942904 + Nonsense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 96942904 96942904 G A SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known nonsense c.6007 p.Q2003* 1.000 pfam_Sec63-dom,smart_Sec63-dom 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_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 tier1 - - 49 0 0.00 19 5 20.83 SORCS1 0 genome.wustl.edu 37 10 108923957 108923957 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 108923957 108923957 G A SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.328 p.R110W 0.999 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 22 0 0.00 11 5 29.41 SORCS1 0 genome.wustl.edu 37 10 108923957 108923957 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 108923957 108923957 G A SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.328 p.R110W 0.999 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 29 0 0.00 11 5 29.41 SPATA31E1 0 genome.wustl.edu 37 9 90500069 90500069 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 9 90500069 90500069 G A SNP SPATA31E1 ENST00000325643 human ensembl 74_37 +1 known missense c.667 p.G223R 0.000 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 tier1 - - 32 0 0.00 26 7 21.21 SPATA31E1 0 genome.wustl.edu 37 9 90500069 90500069 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 9 90500069 90500069 G A SNP SPATA31E1 ENST00000325643 human ensembl 74_37 +1 known missense c.667 p.G223R 0.000 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 tier1 - - 57 0 0.00 26 7 21.21 SPATA42 0 genome.wustl.edu 37 1 109400924 109400924 + RNA DEL T T - TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 109400924 109400924 T - DEL SPATA42 ENST00000417241 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA42 HGNC ENSG00000203897 tier1 18 0 0.00 9 4 30.77 SPRED3 0 genome.wustl.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 38882864 38882866 CCT - DEL SPRED3 ENST00000338502 human ensembl 74_37 +1 known in_frame_del c.359_361 p.S124in_frame_del 1.000:0.995:0.997 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED3 HGNC ENSG00000188766 tier1 30 0 0.00 14 3 17.65 SPRED3 0 genome.wustl.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 38882864 38882866 CCT - DEL SPRED3 ENST00000338502 human ensembl 74_37 +1 known in_frame_del c.359_361 p.S124in_frame_del 1.000:0.995:0.997 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED3 HGNC ENSG00000188766 tier1 36 0 0.00 14 3 17.65 SPTA1 0 genome.wustl.edu 37 1 158637785 158637785 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 158637785 158637785 T G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.1901 p.K634T 0.979 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 120 0 0.00 42 33 44.00 STXBP5L 0 genome.wustl.edu 37 3 121137298 121137298 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 121137298 121137298 G A SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.3413 p.R1138H 0.658 pfscan_Synaptobrevin 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 - - 38 0 0.00 15 9 37.50 STXBP5L 0 genome.wustl.edu 37 3 121137298 121137298 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 121137298 121137298 G A SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.3413 p.R1138H 0.658 pfscan_Synaptobrevin 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 - - 44 0 0.00 15 9 37.50 SULT4A1 0 genome.wustl.edu 37 22 44258218 44258218 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 22 44258218 44258218 G A SNP SULT4A1 ENST00000330884 human ensembl 74_37 -1 known silent c.45 p.F15 0.996 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT4A1 HGNC ENSG00000130540 tier1 - - 27 0 0.00 20 9 31.03 SULT4A1 0 genome.wustl.edu 37 22 44258218 44258218 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 22 44258218 44258218 G A SNP SULT4A1 ENST00000330884 human ensembl 74_37 -1 known silent c.45 p.F15 0.996 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT4A1 HGNC ENSG00000130540 tier1 - - 58 0 0.00 20 9 31.03 SUPT3H 0 genome.wustl.edu 37 6 44900481 44900481 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 44900481 44900481 A C SNP SUPT3H ENST00000371460 human ensembl 74_37 -1 known missense c.854 p.V285G 0.982 NULL pfam_TFIID-18,superfamily_Histone-fold - no_errors SUPT3H HGNC ENSG00000196284 tier1 - - 17 0 0.00 12 4 25.00 SUPT3H 0 genome.wustl.edu 37 6 44900481 44900481 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 44900481 44900481 A C SNP SUPT3H ENST00000371460 human ensembl 74_37 -1 known missense c.854 p.V285G 0.982 NULL pfam_TFIID-18,superfamily_Histone-fold - no_errors SUPT3H HGNC ENSG00000196284 tier1 - - 21 0 0.00 12 4 25.00 SYBU 0 genome.wustl.edu 37 8 110654996 110654996 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 110654996 110654996 G A SNP SYBU ENST00000276646 human ensembl 74_37 -1 known missense c.190 p.R64C 1.000 NULL NULL - no_errors SYBU HGNC ENSG00000147642 tier1 - - 35 0 0.00 45 23 33.82 SYBU 0 genome.wustl.edu 37 8 110654996 110654996 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 110654996 110654996 G A SNP SYBU ENST00000276646 human ensembl 74_37 -1 known missense c.190 p.R64C 1.000 NULL NULL - no_errors SYBU HGNC ENSG00000147642 tier1 - - 49 0 0.00 45 23 33.82 SYT5 0 genome.wustl.edu 37 19 55686640 55686640 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 55686640 55686640 C T SNP SYT5 ENST00000354308 human ensembl 74_37 -1 known missense c.608 p.R203H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT5 HGNC ENSG00000129990 tier1 - - 28 0 0.00 11 6 35.29 SYT5 0 genome.wustl.edu 37 19 55686640 55686640 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 55686640 55686640 C T SNP SYT5 ENST00000354308 human ensembl 74_37 -1 known missense c.608 p.R203H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT5 HGNC ENSG00000129990 tier1 - - 37 0 0.00 11 6 35.29 TAF1L 0 genome.wustl.edu 37 9 32632004 32632004 + Missense_Mutation SNP C C A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 9 32632004 32632004 C A SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.3574 p.D1192Y 1.000 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 TAF1L HGNC ENSG00000122728 72 0 0.00 59 4 6.35 TESK1 0 genome.wustl.edu 37 9 35607308 35607309 + RNA DEL TG TG - TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 9 35607308 35607309 TG - DEL TESK1 ENST00000463897 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors TESK1 HGNC ENSG00000107140 tier1 42 0 0.00 23 3 11.54 TEX15 0 genome.wustl.edu 37 8 30704421 30704421 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 30704421 30704421 C T SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.2113 p.E705K 0.557 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 tier1 - - 54 0 0.00 63 4 5.97 TEX15 0 genome.wustl.edu 37 8 30704421 30704421 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 30704421 30704421 C T SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.2113 p.E705K 0.557 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 tier1 - - 58 0 0.00 63 4 5.97 TGFBR2 0 genome.wustl.edu 37 3 30691871 30691872 + Frame_Shift_Ins INS - - A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 30691871 30691872 - A INS TGFBR2 ENST00000359013 human ensembl 74_37 +1 known frame_shift_ins c.448_449 p.K154fs 1.000:1.000 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,prints_TGFB_receptor pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 tier1 46 0 0.00 30 4 11.76 TGFBR2 0 genome.wustl.edu 37 3 30691871 30691872 + Frame_Shift_Ins INS - - A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 30691871 30691872 - A INS TGFBR2 ENST00000359013 human ensembl 74_37 +1 known frame_shift_ins c.448_449 p.K154fs 1.000:1.000 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,prints_TGFB_receptor pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 tier1 62 0 0.00 30 4 11.76 TIAM1 0 genome.wustl.edu 37 21 32624335 32624335 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 21 32624335 32624335 C T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known silent c.1134 p.A378 0.000 NULL 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 - - 82 0 0.00 34 22 39.29 TIAM1 0 genome.wustl.edu 37 21 32624335 32624335 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 21 32624335 32624335 C T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known silent c.1134 p.A378 0.000 NULL 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 - - 86 0 0.00 34 22 39.29 TINCR 0 genome.wustl.edu 37 19 5561229 5561229 + RNA SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 5561229 5561229 G T SNP TINCR ENST00000448587 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TINCR HGNC ENSG00000223573 tier1 - - 50 0 0.00 18 12 40.00 TLK2 0 genome.wustl.edu 37 17 60599574 60599574 + Frame_Shift_Del DEL A A - TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 17 60599574 60599574 A - DEL TLK2 ENST00000326270 human ensembl 74_37 +1 known frame_shift_del c.163 p.K56fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TLK2 HGNC ENSG00000146872 tier1 21 0 0.00 20 2 9.09 TLK2 0 genome.wustl.edu 37 17 60599574 60599574 + Frame_Shift_Del DEL A A - TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 17 60599574 60599574 A - DEL TLK2 ENST00000326270 human ensembl 74_37 +1 known frame_shift_del c.163 p.K56fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TLK2 HGNC ENSG00000146872 tier1 26 0 0.00 20 2 9.09 TLR2 0 genome.wustl.edu 37 4 154626073 154626073 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 154626073 154626073 T G SNP TLR2 ENST00000260010 human ensembl 74_37 +1 known missense c.2014 p.L672V 0.004 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR2 HGNC ENSG00000137462 tier1 - - 109 0 0.00 70 20 22.22 TLR2 0 genome.wustl.edu 37 4 154626073 154626073 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 154626073 154626073 T G SNP TLR2 ENST00000260010 human ensembl 74_37 +1 known missense c.2014 p.L672V 0.004 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR2 HGNC ENSG00000137462 tier1 - - 129 0 0.00 70 20 22.22 TM6SF2 0 genome.wustl.edu 37 19 19375653 19375653 + Missense_Mutation SNP C C A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 19375653 19375653 C A SNP TM6SF2 ENST00000389363 human ensembl 74_37 -1 known missense c.954 p.M318I 0.951 pfam_Transmembrane_6/97 pfam_Transmembrane_6/97 - no_errors TM6SF2 HGNC ENSG00000213996 tier1 - - 20 0 0.00 10 3 23.08 TM6SF2 0 genome.wustl.edu 37 19 19375653 19375653 + Missense_Mutation SNP C C A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 19375653 19375653 C A SNP TM6SF2 ENST00000389363 human ensembl 74_37 -1 known missense c.954 p.M318I 0.951 pfam_Transmembrane_6/97 pfam_Transmembrane_6/97 - no_errors TM6SF2 HGNC ENSG00000213996 tier1 - - 23 0 0.00 10 3 23.08 TNR 0 genome.wustl.edu 37 1 175299237 175299237 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 175299237 175299237 G A SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.3766 p.R1256C 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 tier1 rs144730675 - 36 0 0.00 12 21 63.64 TNR 0 genome.wustl.edu 37 1 175299237 175299237 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 175299237 175299237 G A SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.3766 p.R1256C 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 tier1 rs144730675 - 46 0 0.00 12 21 63.64 TNXB 0 genome.wustl.edu 37 6 32038011 32038011 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 32038011 32038011 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.5171 p.R1724H 0.001 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 - - 40 0 0.00 31 13 29.55 TNXB 0 genome.wustl.edu 37 6 32038011 32038011 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 32038011 32038011 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.5171 p.R1724H 0.001 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 - - 64 0 0.00 31 13 29.55 TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.818 p.R273H 0.864 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934576 GMAF=0.0005 29 0 0.00 8 19 67.86 TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.818 p.R273H 0.864 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934576 GMAF=0.0005 32 0 0.00 8 19 67.86 TPTE2 0 genome.wustl.edu 37 13 19997247 19997247 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 19997247 19997247 A C SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.1524 p.I508M 0.629 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 tier1 - - 105 0 0.00 62 58 48.33 TPTE2 0 genome.wustl.edu 37 13 19997247 19997247 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 13 19997247 19997247 A C SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.1524 p.I508M 0.629 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 tier1 - - 116 0 0.00 62 58 48.33 TRIM42 0 genome.wustl.edu 37 3 140419756 140419756 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 140419756 140419756 G T SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known missense c.2112 p.K704N 1.000 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 tier1 - - 32 0 0.00 21 8 27.59 TRIM42 0 genome.wustl.edu 37 3 140419756 140419756 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 140419756 140419756 G T SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known missense c.2112 p.K704N 1.000 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 tier1 - - 50 0 0.00 21 8 27.59 TRIM77 0 genome.wustl.edu 37 11 89450731 89450731 + Missense_Mutation SNP A A T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 89450731 89450731 A T SNP TRIM77 ENST00000398290 human ensembl 74_37 +1 known missense c.1044 p.K348N 0.004 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,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 TRIM77 HGNC ENSG00000214414 tier1 - - 80 0 0.00 56 14 20.00 TRIM77 0 genome.wustl.edu 37 11 89450731 89450731 + Missense_Mutation SNP A A T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 89450731 89450731 A T SNP TRIM77 ENST00000398290 human ensembl 74_37 +1 known missense c.1044 p.K348N 0.004 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,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 TRIM77 HGNC ENSG00000214414 tier1 - - 89 0 0.00 56 14 20.00 TRIML2 0 genome.wustl.edu 37 4 189012589 189012589 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 189012589 189012589 T C SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.1102 p.S368G 0.002 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_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 tier1 - - 57 0 0.00 36 11 23.40 TRIML2 0 genome.wustl.edu 37 4 189012589 189012589 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 189012589 189012589 T C SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.1102 p.S368G 0.002 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_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 tier1 - - 58 0 0.00 36 11 23.40 TSHZ2 0 genome.wustl.edu 37 20 51873022 51873022 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 20 51873022 51873022 G T SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.3025 p.V1009L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 51 0 0.00 53 3 5.36 TTLL8 0 genome.wustl.edu 37 22 50470517 50470517 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 22 50470517 50470517 G A SNP TTLL8 ENST00000266182 human ensembl 74_37 -1 known silent c.1305 p.N435 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL8 HGNC ENSG00000138892 tier1 - - 46 0 0.00 52 7 11.86 TTLL8 0 genome.wustl.edu 37 22 50470517 50470517 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 22 50470517 50470517 G A SNP TTLL8 ENST00000266182 human ensembl 74_37 -1 known silent c.1305 p.N435 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL8 HGNC ENSG00000138892 tier1 - - 51 0 0.00 52 7 11.86 TTN 0 genome.wustl.edu 37 2 179460306 179460306 + Missense_Mutation SNP C C A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 179460306 179460306 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.50071 p.A16691S 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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 - - 45 0 0.00 33 8 19.51 TTN 0 genome.wustl.edu 37 2 179460306 179460306 + Missense_Mutation SNP C C A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 179460306 179460306 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.50071 p.A16691S 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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 - - 59 0 0.00 33 8 19.51 TTN 0 genome.wustl.edu 37 2 179500730 179500730 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 179500730 179500730 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.33864 p.N11288 0.101 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 35 0 0.00 22 7 24.14 TTN 0 genome.wustl.edu 37 2 179500730 179500730 + Silent SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 179500730 179500730 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.33864 p.N11288 0.101 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 50 0 0.00 22 7 24.14 TTN 0 genome.wustl.edu 37 2 179516898 179516898 + Missense_Mutation SNP C C A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 179516898 179516898 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.31918 p.V10640L 1.000 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 - - 133 0 0.00 103 27 20.77 TTN 0 genome.wustl.edu 37 2 179516898 179516898 + Missense_Mutation SNP C C A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 179516898 179516898 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.31918 p.V10640L 1.000 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 - - 157 0 0.00 103 27 20.77 TTN 0 genome.wustl.edu 37 2 179593075 179593075 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 179593075 179593075 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.15744 p.K5248N 0.975 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 23 0 0.00 9 3 25.00 TTN 0 genome.wustl.edu 37 2 179604014 179604014 + Missense_Mutation SNP T T A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 179604014 179604014 T A SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.13433 p.K4478M 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 - - 112 0 0.00 53 35 39.77 UNC5C 0 genome.wustl.edu 37 4 96104172 96104172 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 4 96104172 96104172 T G SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.2327 p.N776T 0.983 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 tier1 - - 51 0 0.00 24 8 25.00 UNC5D 0 genome.wustl.edu 37 8 35606063 35606063 + Silent SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 35606063 35606063 T C SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known silent c.1785 p.S595 0.002 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 tier1 - - 111 0 0.00 86 39 31.20 UNC5D 0 genome.wustl.edu 37 8 35606063 35606063 + Silent SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 35606063 35606063 T C SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known silent c.1785 p.S595 0.002 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 tier1 - - 96 0 0.00 86 39 31.20 USH2A 0 genome.wustl.edu 37 1 216270459 216270459 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 216270459 216270459 T G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.4724 p.K1575T 0.991 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 35 0 0.00 24 6 20.00 USH2A 0 genome.wustl.edu 37 1 216270459 216270459 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 216270459 216270459 T G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.4724 p.K1575T 0.991 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 45 0 0.00 24 6 20.00 USP16 0 genome.wustl.edu 37 21 30426152 30426152 + Silent SNP C C G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 21 30426152 30426152 C G SNP USP16 ENST00000334352 human ensembl 74_37 +1 known silent c.2223 p.L741 0.561 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP16 HGNC ENSG00000156256 tier1 - - 47 0 0.00 26 7 21.21 USP16 0 genome.wustl.edu 37 21 30426152 30426152 + Silent SNP C C G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 21 30426152 30426152 C G SNP USP16 ENST00000334352 human ensembl 74_37 +1 known silent c.2223 p.L741 0.561 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP16 HGNC ENSG00000156256 tier1 - - 57 0 0.00 26 7 21.21 VAX1 0 genome.wustl.edu 37 10 118893682 118893682 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 118893682 118893682 A C SNP VAX1 ENST00000369206 human ensembl 74_37 -1 known missense c.842 p.L281R 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors VAX1 HGNC ENSG00000148704 tier1 - - 43 0 0.00 17 11 39.29 VAX1 0 genome.wustl.edu 37 10 118893682 118893682 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 10 118893682 118893682 A C SNP VAX1 ENST00000369206 human ensembl 74_37 -1 known missense c.842 p.L281R 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors VAX1 HGNC ENSG00000148704 tier1 - - 65 0 0.00 17 11 39.29 VCAN 0 genome.wustl.edu 37 5 82876451 82876451 + RNA DEL A A - TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 5 82876451 82876451 A - DEL VCAN ENST00000513016 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors VCAN HGNC ENSG00000038427 tier1 38 0 0.00 34 2 5.56 VCAN 0 genome.wustl.edu 37 5 82876451 82876451 + RNA DEL A A - TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 5 82876451 82876451 A - DEL VCAN ENST00000513016 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors VCAN HGNC ENSG00000038427 tier1 42 0 0.00 34 2 5.56 VIP 0 genome.wustl.edu 37 6 153076475 153076475 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 153076475 153076475 A C SNP VIP ENST00000367244 human ensembl 74_37 +1 known missense c.302 p.K101T 1.000 pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors VIP HGNC ENSG00000146469 tier1 - - 63 0 0.00 22 32 59.26 VIP 0 genome.wustl.edu 37 6 153076475 153076475 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 6 153076475 153076475 A C SNP VIP ENST00000367244 human ensembl 74_37 +1 known missense c.302 p.K101T 1.000 pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors VIP HGNC ENSG00000146469 tier1 - - 84 0 0.00 22 32 59.26 VWA5B1 0 genome.wustl.edu 37 1 20637169 20637169 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 20637169 20637169 C T SNP VWA5B1 ENST00000289815 human ensembl 74_37 +1 known silent c.75 p.S25 0.619 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC ENSG00000158816 tier1 - - 55 0 0.00 17 14 45.16 VWA5B1 0 genome.wustl.edu 37 1 20637169 20637169 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 20637169 20637169 C T SNP VWA5B1 ENST00000289815 human ensembl 74_37 +1 known silent c.75 p.S25 0.619 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC ENSG00000158816 tier1 - - 57 0 0.00 17 14 45.16 WDR33 0 genome.wustl.edu 37 2 128477433 128477433 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 128477433 128477433 C T SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known silent c.2166 p.P722 0.154 pfam_Collagen pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 tier1 - - 23 0 0.00 14 19 57.58 WDR33 0 genome.wustl.edu 37 2 128477433 128477433 + Silent SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 128477433 128477433 C T SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known silent c.2166 p.P722 0.154 pfam_Collagen pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 tier1 - - 47 0 0.00 14 19 57.58 WDR36 0 genome.wustl.edu 37 5 110428069 110428069 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 5 110428069 110428069 G T SNP WDR36 ENST00000506538 human ensembl 74_37 +1 known missense c.83 p.R28M 0.000 NULL pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 48 0 0.00 36 2 5.26 WDR47 0 genome.wustl.edu 37 1 109538263 109538263 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 109538263 109538263 G T SNP WDR47 ENST00000400794 human ensembl 74_37 -1 known missense c.1654 p.R552S 0.943 NULL 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 - - 54 0 0.00 62 4 6.06 WDR47 0 genome.wustl.edu 37 1 109538263 109538263 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 109538263 109538263 G T SNP WDR47 ENST00000400794 human ensembl 74_37 -1 known missense c.1654 p.R552S 0.943 NULL 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 - - 69 0 0.00 62 4 6.06 XKR5 0 genome.wustl.edu 37 8 6668759 6668759 + RNA SNP C C A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 6668759 6668759 C A SNP XKR5 ENST00000405979 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XKR5 HGNC ENSG00000186530 tier1 - - 52 0 0.00 53 16 23.19 XKR5 0 genome.wustl.edu 37 8 6668759 6668759 + RNA SNP C C A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 8 6668759 6668759 C A SNP XKR5 ENST00000405979 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XKR5 HGNC ENSG00000186530 tier1 - - 54 0 0.00 53 16 23.19 ZBTB16 0 genome.wustl.edu 37 11 114118040 114118040 + Missense_Mutation SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 114118040 114118040 A G SNP ZBTB16 ENST00000335953 human ensembl 74_37 +1 known missense c.1745 p.K582R 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 ZBTB16 HGNC ENSG00000109906 tier1 - - 44 0 0.00 27 6 18.18 ZBTB16 0 genome.wustl.edu 37 11 114118040 114118040 + Missense_Mutation SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 114118040 114118040 A G SNP ZBTB16 ENST00000335953 human ensembl 74_37 +1 known missense c.1745 p.K582R 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 ZBTB16 HGNC ENSG00000109906 tier1 - - 50 0 0.00 27 6 18.18 ZC3H12C 0 genome.wustl.edu 37 11 110035171 110035171 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 110035171 110035171 C T SNP ZC3H12C ENST00000278590 human ensembl 74_37 +1 known missense c.1361 p.T454M 0.876 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 tier1 - - 48 0 0.00 30 15 33.33 ZC3H12C 0 genome.wustl.edu 37 11 110035171 110035171 + Missense_Mutation SNP C C T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 110035171 110035171 C T SNP ZC3H12C ENST00000278590 human ensembl 74_37 +1 known missense c.1361 p.T454M 0.876 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 tier1 - - 51 0 0.00 30 15 33.33 ZIC4 0 genome.wustl.edu 37 3 147113975 147113975 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 147113975 147113975 G A SNP ZIC4 ENST00000525172 human ensembl 74_37 -1 known missense c.502 p.R168C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC4 HGNC ENSG00000174963 tier1 - - 18 0 0.00 10 15 60.00 ZIC4 0 genome.wustl.edu 37 3 147113975 147113975 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 147113975 147113975 G A SNP ZIC4 ENST00000525172 human ensembl 74_37 -1 known missense c.502 p.R168C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC4 HGNC ENSG00000174963 tier1 - - 26 0 0.00 10 15 60.00 ZMYND15 0 genome.wustl.edu 37 17 4646627 4646627 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 17 4646627 4646627 G T SNP ZMYND15 ENST00000433935 human ensembl 74_37 +1 known missense c.1174 p.A392S 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND15 HGNC ENSG00000141497 68 0 0.00 27 4 12.90 ZNF208 0 genome.wustl.edu 37 19 22154774 22154774 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 22154774 22154774 T G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.3062 p.K1021T 0.003 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 ZNF208 HGNC ENSG00000160321 tier1 - - 42 0 0.00 27 13 32.50 ZNF208 0 genome.wustl.edu 37 19 22154774 22154774 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 22154774 22154774 T G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.3062 p.K1021T 0.003 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 ZNF208 HGNC ENSG00000160321 tier1 - - 46 0 0.00 27 13 32.50 ZNF208 0 genome.wustl.edu 37 19 22157548 22157548 + Silent SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 22157548 22157548 T C SNP ZNF208 ENST00000599916 human ensembl 74_37 -1 putative silent c.288 p.Q96 0.222 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 tier1 - - 76 0 0.00 31 20 39.22 ZNF208 0 genome.wustl.edu 37 19 22157548 22157548 + Silent SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 22157548 22157548 T C SNP ZNF208 ENST00000599916 human ensembl 74_37 -1 putative silent c.288 p.Q96 0.222 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 tier1 - - 79 0 0.00 31 20 39.22 ZNF215 0 genome.wustl.edu 37 11 6953724 6953724 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 6953724 6953724 T G SNP ZNF215 ENST00000278319 human ensembl 74_37 +1 known missense c.221 p.L74R 0.988 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF215 HGNC ENSG00000149054 tier1 - - 28 0 0.00 19 5 20.83 ZNF215 0 genome.wustl.edu 37 11 6953724 6953724 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 11 6953724 6953724 T G SNP ZNF215 ENST00000278319 human ensembl 74_37 +1 known missense c.221 p.L74R 0.988 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF215 HGNC ENSG00000149054 tier1 - - 36 0 0.00 19 5 20.83 ZNF385D 0 genome.wustl.edu 37 3 21478450 21478450 + RNA SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 21478450 21478450 G A SNP ZNF385D ENST00000495739 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ZNF385D HGNC ENSG00000151789 tier1 - - 102 0 0.00 30 26 45.61 ZNF385D 0 genome.wustl.edu 37 3 21478450 21478450 + RNA SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 3 21478450 21478450 G A SNP ZNF385D ENST00000495739 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ZNF385D HGNC ENSG00000151789 tier1 - - 83 0 0.00 30 26 45.61 ZNF461 0 genome.wustl.edu 37 19 37130776 37130776 + Silent SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 37130776 37130776 T C SNP ZNF461 ENST00000588268 human ensembl 74_37 -1 known silent c.471 p.Q157 0.022 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 ZNF461 HGNC ENSG00000197808 tier1 - - 60 0 0.00 32 8 20.00 ZNF461 0 genome.wustl.edu 37 19 37130776 37130776 + Silent SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 37130776 37130776 T C SNP ZNF461 ENST00000588268 human ensembl 74_37 -1 known silent c.471 p.Q157 0.022 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 ZNF461 HGNC ENSG00000197808 tier1 - - 98 0 0.00 32 8 20.00 ZNF568 0 genome.wustl.edu 37 19 37441118 37441118 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 37441118 37441118 A C SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known missense c.1063 p.I355L 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 ZNF568 HGNC ENSG00000198453 tier1 - - 44 0 0.00 16 12 42.86 ZNF648 0 genome.wustl.edu 37 1 182026736 182026736 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 182026736 182026736 T C SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel missense c.410 p.Q137R 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 tier1 - - 21 0 0.00 24 14 36.84 ZNF648 0 genome.wustl.edu 37 1 182026736 182026736 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 1 182026736 182026736 T C SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel missense c.410 p.Q137R 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 tier1 - - 36 0 0.00 24 14 36.84 ZNF681 0 genome.wustl.edu 37 19 23927261 23927261 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 23927261 23927261 T C SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known missense c.1091 p.K364R 0.937 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 ZNF681 HGNC ENSG00000196172 tier1 - - 37 0 0.00 20 7 25.93 ZNF681 0 genome.wustl.edu 37 19 23927261 23927261 + Missense_Mutation SNP T T C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 23927261 23927261 T C SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known missense c.1091 p.K364R 0.937 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 ZNF681 HGNC ENSG00000196172 tier1 - - 56 0 0.00 20 7 25.93 ZNF763 0 genome.wustl.edu 37 19 12089188 12089188 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 12089188 12089188 A C SNP ZNF763 ENST00000538752 human ensembl 74_37 +1 known missense c.509 p.K170T 0.000 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 ZNF763 HGNC ENSG00000197054 tier1 - - 44 0 0.00 29 13 30.95 ZNF763 0 genome.wustl.edu 37 19 12089188 12089188 + Missense_Mutation SNP A A C TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 12089188 12089188 A C SNP ZNF763 ENST00000538752 human ensembl 74_37 +1 known missense c.509 p.K170T 0.000 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 ZNF763 HGNC ENSG00000197054 tier1 - - 61 0 0.00 29 13 30.95 ZNF804A 0 genome.wustl.edu 37 2 185802592 185802592 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 185802592 185802592 T G SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.2469 p.F823L 0.001 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 20 0 0.00 13 5 27.78 ZNF804A 0 genome.wustl.edu 37 2 185802592 185802592 + Missense_Mutation SNP T T G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 2 185802592 185802592 T G SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.2469 p.F823L 0.001 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 21 0 0.00 13 5 27.78 ZNF814 0 genome.wustl.edu 37 19 58385788 58385788 + Missense_Mutation SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 58385788 58385788 A G SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.970 p.Y324H 0.063 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 ZNF814 HGNC ENSG00000204514 tier1 - - 90 0 0.00 53 4 7.02 ZNF880 0 genome.wustl.edu 37 19 52887189 52887189 + Missense_Mutation SNP T T A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 52887189 52887189 T A SNP ZNF880 ENST00000422689 human ensembl 74_37 +1 known missense c.356 p.L119Q 0.002 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 ZNF880 HGNC ENSG00000221923 tier1 - - 38 0 0.00 14 5 26.32 ZNF880 0 genome.wustl.edu 37 19 52887189 52887189 + Missense_Mutation SNP T T A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 52887189 52887189 T A SNP ZNF880 ENST00000422689 human ensembl 74_37 +1 known missense c.356 p.L119Q 0.002 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 ZNF880 HGNC ENSG00000221923 tier1 - - 42 0 0.00 14 5 26.32 ZNF90 0 genome.wustl.edu 37 19 20215065 20215065 + Silent SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 20215065 20215065 A G SNP ZNF90 ENST00000418063 human ensembl 74_37 +1 known silent c.21 p.R7 0.894 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 ZNF90 HGNC ENSG00000213988 tier1 - - 79 0 0.00 37 18 32.73 ZNF90 0 genome.wustl.edu 37 19 20215065 20215065 + Silent SNP A A G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 20215065 20215065 A G SNP ZNF90 ENST00000418063 human ensembl 74_37 +1 known silent c.21 p.R7 0.894 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 ZNF90 HGNC ENSG00000213988 tier1 - - 84 0 0.00 37 18 32.73 ZNRF4 0 genome.wustl.edu 37 19 5455995 5455995 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da409ed9-280e-4463-b1a5-34baa26ea304 6f00c9db-539a-4d31-86d7-86fd02d2b135 19 5455995 5455995 G A SNP ZNRF4 ENST00000222033 human ensembl 74_37 +1 known missense c.493 p.D165N 0.536 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 60 0 0.00 33 3 8.33