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 AADACL2 0 genome.wustl.edu 37 3 151451827 151451827 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 151451827 151451827 G T SNP AADACL2 ENST00000356517 human ensembl 74_37 +1 known missense c.4 p.G2W 0.045 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase - no_errors AADACL2 HGNC ENSG00000197953 110 0 0.00 76 4 5.00 ABCA6 0 genome.wustl.edu 37 17 67125826 67125826 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 67125826 67125826 T C SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known missense c.858 p.I286M 0.127 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 tier1 - - 27 0 0.00 38 7 15.56 ABCA6 0 genome.wustl.edu 37 17 67125826 67125826 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 67125826 67125826 T C SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known missense c.858 p.I286M 0.127 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 tier1 - - 85 0 0.00 38 7 15.56 ABCC1 0 genome.wustl.edu 37 16 16103632 16103632 + Splice_Site SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 16103632 16103632 G T SNP ABCC1 ENST00000399408 human ensembl 74_37 +1 known splice_site c.226-1 e3-1 1.000 - - - no_errors ABCC1 HGNC ENSG00000103222 tier1 - - 79 0 0.00 65 4 5.80 ABCC11 0 genome.wustl.edu 37 16 48264412 48264412 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 48264412 48264412 C T SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.172 p.V58I 0.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 tier1 - - 87 0 0.00 71 4 5.33 ABCC11 0 genome.wustl.edu 37 16 48264412 48264412 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 48264412 48264412 C T SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.172 p.V58I 0.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 tier1 - - 92 0 0.00 71 4 5.33 ABCF1 0 genome.wustl.edu 37 6 30545854 30545854 + Frame_Shift_Del DEL A A - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 30545854 30545854 A - DEL ABCF1 ENST00000326195 human ensembl 74_37 +1 known frame_shift_del c.218 p.K76fs 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF1 HGNC ENSG00000204574 tier1 43 0 0.00 16 6 27.27 ABHD15 0 genome.wustl.edu 37 17 27889973 27889973 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 27889973 27889973 C T SNP ABHD15 ENST00000307201 human ensembl 74_37 -1 known missense c.1013 p.R338H 0.003 pirsf_AB-Hydro_YheT pirsf_AB-Hydro_YheT - no_errors ABHD15 HGNC ENSG00000168792 tier1 - - 82 0 0.00 76 4 5.00 ABHD15 0 genome.wustl.edu 37 17 27889973 27889973 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 27889973 27889973 C T SNP ABHD15 ENST00000307201 human ensembl 74_37 -1 known missense c.1013 p.R338H 0.003 pirsf_AB-Hydro_YheT pirsf_AB-Hydro_YheT - no_errors ABHD15 HGNC ENSG00000168792 tier1 - - 89 0 0.00 76 4 5.00 ABHD6 0 genome.wustl.edu 37 3 58279350 58279350 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 58279350 58279350 A C SNP ABHD6 ENST00000295962 human ensembl 74_37 +1 known missense c.872 p.K291T 0.288 pfam_AB_hydrolase_1,pfam_Ndr pfam_AB_hydrolase_1,pfam_Ndr,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD6 HGNC ENSG00000163686 tier1 - - 55 0 0.00 18 4 18.18 ACACB 0 genome.wustl.edu 37 12 109684194 109684194 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 109684194 109684194 G A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.5512 p.A1838T 0.999 pfam_Carboxyl_trans,pfscan_COA_CT_N pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 88 0 0.00 53 4 7.02 ACAD11 0 genome.wustl.edu 37 3 132294705 132294705 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 132294705 132294705 T C SNP ACAD11 ENST00000264990 human ensembl 74_37 -1 known missense c.1912 p.R638G 1.000 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ENSG00000240303 63 0 0.00 32 3 8.57 ACAP2 0 genome.wustl.edu 37 3 195063340 195063340 + Frame_Shift_Del DEL C C - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 195063340 195063340 C - DEL ACAP2 ENST00000326793 human ensembl 74_37 -1 known frame_shift_del c.388 p.V130fs 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP2 HGNC ENSG00000114331 tier1 50 0 0.00 47 12 20.34 ACAP2 0 genome.wustl.edu 37 3 195063340 195063340 + Frame_Shift_Del DEL C C - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 195063340 195063340 C - DEL ACAP2 ENST00000326793 human ensembl 74_37 -1 known frame_shift_del c.388 p.V130fs 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP2 HGNC ENSG00000114331 tier1 71 0 0.00 47 12 20.34 ACHE 0 genome.wustl.edu 37 7 100490202 100490202 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 100490202 100490202 G A SNP ACHE ENST00000302913 human ensembl 74_37 -1 known missense c.1306 p.H436Y 1.000 pfam_CarbesteraseB,prints_Cholinesterase pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 tier1 - - 107 0 0.00 220 14 5.96 ACHE 0 genome.wustl.edu 37 7 100490202 100490202 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 100490202 100490202 G A SNP ACHE ENST00000302913 human ensembl 74_37 -1 known missense c.1306 p.H436Y 1.000 pfam_CarbesteraseB,prints_Cholinesterase pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 tier1 - - 117 0 0.00 220 14 5.96 ACP2 0 genome.wustl.edu 37 11 47269238 47269238 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 47269238 47269238 C T SNP ACP2 ENST00000256997 human ensembl 74_37 -1 known missense c.251 p.R84Q 0.994 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACP2 HGNC ENSG00000134575 tier1 - - 89 0 0.00 60 8 11.76 ACP2 0 genome.wustl.edu 37 11 47269238 47269238 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 47269238 47269238 C T SNP ACP2 ENST00000256997 human ensembl 74_37 -1 known missense c.251 p.R84Q 0.994 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACP2 HGNC ENSG00000134575 tier1 - - 96 0 0.00 60 8 11.76 ACPL2 0 genome.wustl.edu 37 3 141011698 141011698 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 141011698 141011698 A G SNP ACPL2 ENST00000286353 human ensembl 74_37 +1 known missense c.1094 p.E365G 0.014 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPL2 HGNC ENSG00000155893 tier1 - - 46 0 0.00 29 13 30.95 ACPL2 0 genome.wustl.edu 37 3 141011698 141011698 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 141011698 141011698 A G SNP ACPL2 ENST00000286353 human ensembl 74_37 +1 known missense c.1094 p.E365G 0.014 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPL2 HGNC ENSG00000155893 tier1 - - 63 0 0.00 29 13 30.95 ACSM2B 0 genome.wustl.edu 37 16 20566633 20566633 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 20566633 20566633 T G SNP ACSM2B ENST00000329697 human ensembl 74_37 -1 known missense c.554 p.E185A 0.141 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 tier1 - - 119 0 0.00 72 23 24.21 ACSM2B 0 genome.wustl.edu 37 16 20566633 20566633 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 20566633 20566633 T G SNP ACSM2B ENST00000329697 human ensembl 74_37 -1 known missense c.554 p.E185A 0.141 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 tier1 - - 140 0 0.00 72 23 24.21 ACTL7A 0 genome.wustl.edu 37 9 111625588 111625588 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 111625588 111625588 A T SNP ACTL7A ENST00000333999 human ensembl 74_37 +1 known missense c.986 p.K329M 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7A HGNC ENSG00000187003 tier1 - - 50 0 0.00 38 5 11.63 ACTL7A 0 genome.wustl.edu 37 9 111625588 111625588 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 111625588 111625588 A T SNP ACTL7A ENST00000333999 human ensembl 74_37 +1 known missense c.986 p.K329M 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7A HGNC ENSG00000187003 tier1 - - 55 0 0.00 38 5 11.63 ACTR3B 0 genome.wustl.edu 37 7 152513671 152513671 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 152513671 152513671 G T SNP ACTR3B ENST00000256001 human ensembl 74_37 +1 known missense c.538 p.V180L 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR3B HGNC ENSG00000133627 tier1 - - 104 0 0.00 47 4 7.84 ACTR3B 0 genome.wustl.edu 37 7 152513671 152513671 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 152513671 152513671 G T SNP ACTR3B ENST00000256001 human ensembl 74_37 +1 known missense c.538 p.V180L 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR3B HGNC ENSG00000133627 tier1 - - 64 0 0.00 47 4 7.84 ADAM3A 0 genome.wustl.edu 37 8 39362957 39362957 + RNA SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 39362957 39362957 C T SNP ADAM3A ENST00000460383 human ensembl 74_37 -1 known rna NULL NULL 0.024 - - - no_errors ADAM3A HGNC ENSG00000197475 tier1 - - 119 0 0.00 68 14 17.07 ADAM3A 0 genome.wustl.edu 37 8 39362957 39362957 + RNA SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 39362957 39362957 C T SNP ADAM3A ENST00000460383 human ensembl 74_37 -1 known rna NULL NULL 0.024 - - - no_errors ADAM3A HGNC ENSG00000197475 tier1 - - 64 0 0.00 68 14 17.07 ADAMTS14 0 genome.wustl.edu 37 10 72517717 72517717 + Splice_Site SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 72517717 72517717 G C SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known splice_site c.2947-1 e20-1 1.000 - - - no_errors ADAMTS14 HGNC ENSG00000138316 tier1 - - 56 0 0.00 36 4 10.00 ADAMTS14 0 genome.wustl.edu 37 10 72517717 72517717 + Splice_Site SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 72517717 72517717 G C SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known splice_site c.2947-1 e20-1 1.000 - - - no_errors ADAMTS14 HGNC ENSG00000138316 tier1 - - 58 0 0.00 36 4 10.00 ADAMTS18 0 genome.wustl.edu 37 16 77353779 77353779 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 77353779 77353779 C T SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known silent c.2499 p.A833 0.004 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 tier1 - - 82 0 0.00 34 17 33.33 ADAMTS19 0 genome.wustl.edu 37 5 128984537 128984537 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 128984537 128984537 A G SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.2032 p.R678G 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 tier1 - - 135 0 0.00 81 6 6.90 ADAMTS19 0 genome.wustl.edu 37 5 128984537 128984537 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 128984537 128984537 A G SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.2032 p.R678G 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 tier1 - - 79 0 0.00 81 6 6.90 ADAMTS6 0 genome.wustl.edu 37 5 64447710 64447710 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 64447710 64447710 G C SNP ADAMTS6 ENST00000381055 human ensembl 74_37 -1 known missense c.3307 p.R1103G 1.000 pfam_PLAC,pfscan_PLAC pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 tier1 - - 24 0 0.00 22 5 18.52 ADAMTS6 0 genome.wustl.edu 37 5 64447710 64447710 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 64447710 64447710 G C SNP ADAMTS6 ENST00000381055 human ensembl 74_37 -1 known missense c.3307 p.R1103G 1.000 pfam_PLAC,pfscan_PLAC pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 tier1 - - 52 0 0.00 22 5 18.52 AEBP1 0 genome.wustl.edu 37 7 44147429 44147429 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 44147429 44147429 A G SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known missense c.761 p.K254R 1.000 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 tier1 - - 109 0 0.00 86 7 7.53 AEBP1 0 genome.wustl.edu 37 7 44147429 44147429 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 44147429 44147429 A G SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known missense c.761 p.K254R 1.000 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 tier1 - - 97 0 0.00 86 7 7.53 AEN 0 genome.wustl.edu 37 15 89169590 89169590 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 89169590 89169590 G T SNP AEN ENST00000379231 human ensembl 74_37 +1 known missense c.150 p.Q50H 0.992 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors AEN HGNC ENSG00000181026 108 0 0.00 53 4 7.02 AFAP1 0 genome.wustl.edu 37 4 7795508 7795508 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 7795508 7795508 C T SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known missense c.1312 p.A438T 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 tier1 - - 68 0 0.00 57 4 6.56 AFAP1 0 genome.wustl.edu 37 4 7795508 7795508 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 7795508 7795508 C T SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known missense c.1312 p.A438T 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 tier1 - - 92 0 0.00 57 4 6.56 AFF4 0 genome.wustl.edu 37 5 132223538 132223538 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 132223538 132223538 T G SNP AFF4 ENST00000265343 human ensembl 74_37 -1 known missense c.2933 p.K978T 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 tier1 - - 12 0 0.00 13 5 27.78 AFF4 0 genome.wustl.edu 37 5 132223538 132223538 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 132223538 132223538 T G SNP AFF4 ENST00000265343 human ensembl 74_37 -1 known missense c.2933 p.K978T 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 tier1 - - 23 0 0.00 13 5 27.78 AFTPH 0 genome.wustl.edu 37 2 64796810 64796810 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 64796810 64796810 A G SNP AFTPH ENST00000422803 human ensembl 74_37 +1 known silent c.2268 p.G756 1.000 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 tier1 - - 51 0 0.00 62 4 6.06 AFTPH 0 genome.wustl.edu 37 2 64796810 64796810 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 64796810 64796810 A G SNP AFTPH ENST00000422803 human ensembl 74_37 +1 known silent c.2268 p.G756 1.000 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 tier1 - - 57 0 0.00 62 4 6.06 AGXT 0 genome.wustl.edu 37 2 241813453 241813453 + Silent SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 241813453 241813453 G C SNP AGXT ENST00000307503 human ensembl 74_37 +1 known silent c.654 p.S218 0.001 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT HGNC ENSG00000172482 tier1 - - 12 0 0.00 18 5 20.83 AGXT 0 genome.wustl.edu 37 2 241813453 241813453 + Silent SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 241813453 241813453 G C SNP AGXT ENST00000307503 human ensembl 74_37 +1 known silent c.654 p.S218 0.001 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT HGNC ENSG00000172482 tier1 - - 18 0 0.00 18 5 20.83 AJAP1 0 genome.wustl.edu 37 1 4772429 4772429 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 4772429 4772429 T G SNP AJAP1 ENST00000378190 human ensembl 74_37 +1 known missense c.499 p.F167V 0.613 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 tier1 - - 83 0 0.00 59 17 22.37 AJAP1 0 genome.wustl.edu 37 1 4772429 4772429 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 4772429 4772429 T G SNP AJAP1 ENST00000378190 human ensembl 74_37 +1 known missense c.499 p.F167V 0.613 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 tier1 - - 90 0 0.00 59 17 22.37 AKAP3 0 genome.wustl.edu 37 12 4736863 4736863 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 4736863 4736863 T G SNP AKAP3 ENST00000228850 human ensembl 74_37 -1 known missense c.1205 p.E402A 0.889 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 tier1 - - 20 0 0.00 7 5 41.67 AKAP9 0 genome.wustl.edu 37 7 91652182 91652182 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 91652182 91652182 T A SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.4043 p.L1348H 0.976 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 81 0 0.00 476 30 5.92 AKAP9 0 genome.wustl.edu 37 7 91652183 91652183 + Silent SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 91652183 91652183 T A SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known silent c.4044 p.L1348 0.984 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 82 0 0.00 482 26 5.11 AKNA 0 genome.wustl.edu 37 9 117104335 117104335 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 117104335 117104335 T A SNP AKNA ENST00000307564 human ensembl 74_37 -1 known missense c.3828 p.Q1276H 0.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 67 0 0.00 33 5 13.16 AKR1C4 0 genome.wustl.edu 37 10 5255027 5255027 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 5255027 5255027 A C SNP AKR1C4 ENST00000263126 human ensembl 74_37 +1 known missense c.751 p.T251P 0.465 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C4 HGNC ENSG00000198610 tier1 - - 92 0 0.00 63 5 7.35 ALPK3 0 genome.wustl.edu 37 15 85400659 85400659 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 85400659 85400659 T C SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.3296 p.F1099S 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 tier1 - - 47 0 0.00 24 12 33.33 ALPK3 0 genome.wustl.edu 37 15 85400659 85400659 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 85400659 85400659 T C SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.3296 p.F1099S 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 tier1 - - 79 0 0.00 24 12 33.33 AMELX 0 genome.wustl.edu 37 X 11316830 11316830 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 11316830 11316830 G A SNP AMELX ENST00000380712 human ensembl 74_37 +1 known missense c.349 p.V117I 0.842 pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin - no_errors AMELX HGNC ENSG00000125363 tier1 - - 26 0 0.00 11 29 72.50 AMELX 0 genome.wustl.edu 37 X 11316830 11316830 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 11316830 11316830 G A SNP AMELX ENST00000380712 human ensembl 74_37 +1 known missense c.349 p.V117I 0.842 pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin - no_errors AMELX HGNC ENSG00000125363 tier1 - - 39 0 0.00 11 29 72.50 ANK3 0 genome.wustl.edu 37 10 61830372 61830372 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 61830372 61830372 C T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.10267 p.E3423K 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 37 0 0.00 34 3 8.11 ANKRD18B 0 genome.wustl.edu 37 9 33566351 33566351 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 33566351 33566351 T G SNP ANKRD18B ENST00000290943 human ensembl 74_37 +1 known missense c.2409 p.D803E 0.615 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18B HGNC ENSG00000230453 tier1 - - 118 0 0.00 109 40 26.67 ANKRD18B 0 genome.wustl.edu 37 9 33566351 33566351 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 33566351 33566351 T G SNP ANKRD18B ENST00000290943 human ensembl 74_37 +1 known missense c.2409 p.D803E 0.615 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18B HGNC ENSG00000230453 tier1 - - 228 0 0.00 109 40 26.67 ANKRD19P 0 genome.wustl.edu 37 9 95599088 95599089 + RNA DEL CA CA - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 95599088 95599089 CA - DEL ANKRD19P ENST00000464387 human ensembl 74_37 +1 known rna NULL NULL 0.575:0.723 - - - no_errors ANKRD19P HGNC ENSG00000187984 tier1 66 0 0.00 43 4 8.51 ANKRD2 0 genome.wustl.edu 37 10 99341131 99341131 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 99341131 99341131 T A SNP ANKRD2 ENST00000307518 human ensembl 74_37 +1 known missense c.695 p.L232H 0.995 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD2 HGNC ENSG00000165887 tier1 - - 43 0 0.00 32 11 25.58 ANKRD2 0 genome.wustl.edu 37 10 99341131 99341131 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 99341131 99341131 T A SNP ANKRD2 ENST00000307518 human ensembl 74_37 +1 known missense c.695 p.L232H 0.995 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD2 HGNC ENSG00000165887 tier1 - - 56 0 0.00 32 11 25.58 ANKRD30B 0 genome.wustl.edu 37 18 14760618 14760618 + Splice_Site SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 14760618 14760618 G T SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known splice_site c.820+1 e6+1 0.205 - - - no_errors ANKRD30B HGNC ENSG00000180777 tier1 - - 81 0 0.00 56 4 6.67 ANKRD33B 0 genome.wustl.edu 37 5 10564869 10564869 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 10564869 10564869 A C SNP ANKRD33B ENST00000504806 human ensembl 74_37 +1 known missense c.290 p.N97T 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD33B HGNC ENSG00000164236 tier1 - - 33 0 0.00 9 4 30.77 ANKRD33B 0 genome.wustl.edu 37 5 10564869 10564869 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 10564869 10564869 A C SNP ANKRD33B ENST00000504806 human ensembl 74_37 +1 known missense c.290 p.N97T 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD33B HGNC ENSG00000164236 tier1 - - 41 0 0.00 9 4 30.77 ANLN 0 genome.wustl.edu 37 7 36455377 36455377 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 36455377 36455377 G A SNP ANLN ENST00000265748 human ensembl 74_37 +1 known missense c.1406 p.C469Y 0.068 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ENSG00000011426 tier1 - - 103 0 0.00 62 22 25.88 ANLN 0 genome.wustl.edu 37 7 36455377 36455377 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 36455377 36455377 G A SNP ANLN ENST00000265748 human ensembl 74_37 +1 known missense c.1406 p.C469Y 0.068 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ENSG00000011426 tier1 - - 79 0 0.00 62 22 25.88 ANO5 0 genome.wustl.edu 37 11 22301155 22301155 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 22301155 22301155 G T SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known silent c.2586 p.V862 0.827 pfam_Anoctamin pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 tier1 - - 60 0 0.00 68 4 5.56 ANO5 0 genome.wustl.edu 37 11 22301155 22301155 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 22301155 22301155 G T SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known silent c.2586 p.V862 0.827 pfam_Anoctamin pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 tier1 - - 80 0 0.00 68 4 5.56 ANO7 0 genome.wustl.edu 37 2 242149948 242149948 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 242149948 242149948 G T SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known missense c.1686 p.K562N 0.046 pfam_Anoctamin pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 tier1 - - 36 0 0.00 23 4 14.81 APBA1 0 genome.wustl.edu 37 9 72131501 72131501 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 72131501 72131501 G T SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known missense c.626 p.A209E 0.959 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 tier1 - - 27 0 0.00 25 4 13.79 APBA1 0 genome.wustl.edu 37 9 72131501 72131501 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 72131501 72131501 G T SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known missense c.626 p.A209E 0.959 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 tier1 - - 33 0 0.00 25 4 13.79 APBB1IP 0 genome.wustl.edu 37 10 26800761 26800761 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 26800761 26800761 A G SNP APBB1IP ENST00000376236 human ensembl 74_37 +1 known missense c.617 p.N206S 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 tier1 - - 116 0 0.00 51 20 28.17 APBB1IP 0 genome.wustl.edu 37 10 26800761 26800761 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 26800761 26800761 A G SNP APBB1IP ENST00000376236 human ensembl 74_37 +1 known missense c.617 p.N206S 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 tier1 - - 90 0 0.00 51 20 28.17 APC 0 genome.wustl.edu 37 5 112174004 112174004 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 112174004 112174004 A C SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.2713 p.S905R 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 - - 25 0 0.00 27 8 22.86 APC 0 genome.wustl.edu 37 5 112174004 112174004 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 112174004 112174004 A C SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.2713 p.S905R 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 - - 49 0 0.00 27 8 22.86 APP 0 genome.wustl.edu 37 21 27347420 27347420 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 21 27347420 27347420 T C SNP APP ENST00000346798 human ensembl 74_37 -1 known missense c.1421 p.E474G 1.000 superfamily_Amyloid_glyco_E2_domain pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APP HGNC ENSG00000142192 tier1 - - 61 0 0.00 43 7 14.00 APP 0 genome.wustl.edu 37 21 27347420 27347420 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 21 27347420 27347420 T C SNP APP ENST00000346798 human ensembl 74_37 -1 known missense c.1421 p.E474G 1.000 superfamily_Amyloid_glyco_E2_domain pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APP HGNC ENSG00000142192 tier1 - - 71 0 0.00 43 7 14.00 ARHGAP20 0 genome.wustl.edu 37 11 110485314 110485314 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 110485314 110485314 A G SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known missense c.601 p.F201L 1.000 pfam_Ras-assoc,pfscan_Ras-assoc pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 tier1 - - 103 0 0.00 68 8 10.53 ARHGAP20 0 genome.wustl.edu 37 11 110485314 110485314 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 110485314 110485314 A G SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known missense c.601 p.F201L 1.000 pfam_Ras-assoc,pfscan_Ras-assoc pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 tier1 - - 72 0 0.00 68 8 10.53 ARHGAP23 0 genome.wustl.edu 37 17 36623420 36623420 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 36623420 36623420 G T SNP ARHGAP23 ENST00000431231 human ensembl 74_37 +1 known missense c.1496 p.R499L 1.000 NULL pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,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 ARHGAP23 HGNC ENSG00000225485 tier1 - - 56 0 0.00 46 12 20.69 ARHGAP23 0 genome.wustl.edu 37 17 36623420 36623420 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 36623420 36623420 G T SNP ARHGAP23 ENST00000431231 human ensembl 74_37 +1 known missense c.1496 p.R499L 1.000 NULL pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,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 ARHGAP23 HGNC ENSG00000225485 tier1 - - 72 0 0.00 46 12 20.69 ARHGAP28 0 genome.wustl.edu 37 18 6882152 6882152 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 6882152 6882152 T G SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known missense c.1307 p.L436R 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 tier1 - - 115 0 0.00 54 31 36.47 ARHGAP28 0 genome.wustl.edu 37 18 6882152 6882152 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 6882152 6882152 T G SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known missense c.1307 p.L436R 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 tier1 - - 55 0 0.00 54 31 36.47 ARHGAP36 0 genome.wustl.edu 37 X 130218356 130218356 + Silent SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 130218356 130218356 T A SNP ARHGAP36 ENST00000276211 human ensembl 74_37 +1 known silent c.723 p.A241 0.800 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 tier1 - - 37 0 0.00 21 26 54.17 ARHGEF38 0 genome.wustl.edu 37 4 106588326 106588326 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 106588326 106588326 T G SNP ARHGEF38 ENST00000420470 human ensembl 74_37 +1 putative missense c.1730 p.L577R 1.000 superfamily_SH3_domain pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF38 HGNC ENSG00000236699 tier1 - - 80 0 0.00 28 4 12.50 ARMCX3 0 genome.wustl.edu 37 X 100880909 100880909 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 100880909 100880909 G T SNP ARMCX3 ENST00000341189 human ensembl 74_37 +1 known missense c.940 p.D314Y 0.994 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX3 HGNC ENSG00000102401 53 0 0.00 62 4 6.06 ARMCX4 0 genome.wustl.edu 37 X 100746311 100746311 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 100746311 100746311 T G SNP ARMCX4 ENST00000423738 human ensembl 74_37 +1 putative missense c.2735 p.V912G 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 tier1 - - 52 0 0.00 36 12 25.00 ARMCX4 0 genome.wustl.edu 37 X 100746311 100746311 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 100746311 100746311 T G SNP ARMCX4 ENST00000423738 human ensembl 74_37 +1 putative missense c.2735 p.V912G 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 tier1 - - 67 0 0.00 36 12 25.00 ARMCX4 0 genome.wustl.edu 37 X 100747720 100747720 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 100747720 100747720 G T SNP ARMCX4 ENST00000423738 human ensembl 74_37 +1 putative missense c.4144 p.D1382Y 0.014 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 tier1 - - 79 0 0.00 71 4 5.33 ARMCX4 0 genome.wustl.edu 37 X 100747720 100747720 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 100747720 100747720 G T SNP ARMCX4 ENST00000423738 human ensembl 74_37 +1 putative missense c.4144 p.D1382Y 0.014 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 tier1 - - 94 0 0.00 71 4 5.33 ARV1 0 genome.wustl.edu 37 1 231124166 231124166 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 231124166 231124166 T G SNP ARV1 ENST00000310256 human ensembl 74_37 +1 known missense c.275 p.L92R 1.000 pfam_Arv1 pfam_Arv1 - no_errors ARV1 HGNC ENSG00000173409 tier1 - - 36 0 0.00 48 10 17.24 ARV1 0 genome.wustl.edu 37 1 231124166 231124166 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 231124166 231124166 T G SNP ARV1 ENST00000310256 human ensembl 74_37 +1 known missense c.275 p.L92R 1.000 pfam_Arv1 pfam_Arv1 - no_errors ARV1 HGNC ENSG00000173409 tier1 - - 76 0 0.00 48 10 17.24 ASCC3 0 genome.wustl.edu 37 6 100988137 100988137 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 100988137 100988137 G T SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.5677 p.L1893I 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_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 tier1 - - 71 0 0.00 61 5 7.58 ASCC3 0 genome.wustl.edu 37 6 100988137 100988137 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 100988137 100988137 G T SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.5677 p.L1893I 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_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 tier1 - - 80 0 0.00 61 5 7.58 ASH1L 0 genome.wustl.edu 37 1 155448920 155448920 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 155448920 155448920 T C SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known silent c.3741 p.K1247 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 tier1 - - 30 0 0.00 13 13 50.00 ASH1L 0 genome.wustl.edu 37 1 155448920 155448920 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 155448920 155448920 T C SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known silent c.3741 p.K1247 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 tier1 - - 36 0 0.00 13 13 50.00 ASPA 0 genome.wustl.edu 37 17 3397735 3397735 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 3397735 3397735 C A SNP ASPA ENST00000263080 human ensembl 74_37 +1 known silent c.726 p.I242 0.031 pfam_Aste_AspA,pirsf_Aspartoacylase pfam_Aste_AspA,pirsf_Aspartoacylase - no_errors ASPA HGNC ENSG00000108381 tier1 - - 42 0 0.00 32 4 11.11 ASPA 0 genome.wustl.edu 37 17 3397735 3397735 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 3397735 3397735 C A SNP ASPA ENST00000263080 human ensembl 74_37 +1 known silent c.726 p.I242 0.031 pfam_Aste_AspA,pirsf_Aspartoacylase pfam_Aste_AspA,pirsf_Aspartoacylase - no_errors ASPA HGNC ENSG00000108381 tier1 - - 45 0 0.00 32 4 11.11 ASPM 0 genome.wustl.edu 37 1 197065138 197065138 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 197065138 197065138 C T SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.8977 p.E2993K 0.428 superfamily_P-loop_NTPase,superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 tier1 - - 30 0 0.00 37 7 15.56 ASPM 0 genome.wustl.edu 37 1 197065138 197065138 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 197065138 197065138 C T SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.8977 p.E2993K 0.428 superfamily_P-loop_NTPase,superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 tier1 - - 47 0 0.00 37 7 15.56 ATAD2 0 genome.wustl.edu 37 8 124333404 124333404 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 124333404 124333404 T C SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known silent c.4143 p.Q1381 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 62 0 0.00 60 5 7.69 ATM 0 genome.wustl.edu 37 11 108170452 108170452 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 108170452 108170452 A C SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.5017 p.S1673R 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 tier1 - - 36 0 0.00 54 5 8.33 ATM 0 genome.wustl.edu 37 11 108170452 108170452 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 108170452 108170452 A C SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.5017 p.S1673R 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 tier1 - - 69 0 0.00 54 5 8.33 ATP12A 0 genome.wustl.edu 37 13 25263409 25263409 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 13 25263409 25263409 G A SNP ATP12A ENST00000218548 human ensembl 74_37 +1 known missense c.442 p.G148S 1.000 tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP12A HGNC ENSG00000075673 tier1 - - 71 0 0.00 43 8 15.69 ATP12A 0 genome.wustl.edu 37 13 25263409 25263409 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 13 25263409 25263409 G A SNP ATP12A ENST00000218548 human ensembl 74_37 +1 known missense c.442 p.G148S 1.000 tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP12A HGNC ENSG00000075673 tier1 - - 99 0 0.00 43 8 15.69 ATP6V0A2 0 genome.wustl.edu 37 12 124235717 124235717 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 124235717 124235717 G C SNP ATP6V0A2 ENST00000330342 human ensembl 74_37 +1 known missense c.1996 p.G666R 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A2 HGNC ENSG00000185344 tier1 - - 102 0 0.00 59 11 15.71 ATP6V0A2 0 genome.wustl.edu 37 12 124235717 124235717 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 124235717 124235717 G C SNP ATP6V0A2 ENST00000330342 human ensembl 74_37 +1 known missense c.1996 p.G666R 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A2 HGNC ENSG00000185344 tier1 - - 84 0 0.00 59 11 15.71 ATP8A2 0 genome.wustl.edu 37 13 26144928 26144928 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 13 26144928 26144928 G T SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.1497 p.E499D 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A2 HGNC ENSG00000132932 44 0 0.00 35 3 7.89 ATRX 0 genome.wustl.edu 37 X 76776325 76776325 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 76776325 76776325 C T SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.7141 p.E2381K 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 - - 18 0 0.00 21 6 22.22 ATRX 0 genome.wustl.edu 37 X 76776325 76776325 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 76776325 76776325 C T SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.7141 p.E2381K 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 - - 27 0 0.00 21 6 22.22 AVPR1A 0 genome.wustl.edu 37 12 63544255 63544255 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 63544255 63544255 T G SNP AVPR1A ENST00000299178 human ensembl 74_37 -1 known missense c.362 p.D121A 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 tier1 - - 34 0 0.00 28 4 12.50 AVPR1A 0 genome.wustl.edu 37 12 63544255 63544255 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 63544255 63544255 T G SNP AVPR1A ENST00000299178 human ensembl 74_37 -1 known missense c.362 p.D121A 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 tier1 - - 35 0 0.00 28 4 12.50 AXDND1 0 genome.wustl.edu 37 1 179380295 179380295 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 179380295 179380295 A C SNP AXDND1 ENST00000367618 human ensembl 74_37 +1 known missense c.1124 p.Y375S 1.000 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 tier1 - - 143 0 0.00 81 36 30.77 AXDND1 0 genome.wustl.edu 37 1 179380295 179380295 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 179380295 179380295 A C SNP AXDND1 ENST00000367618 human ensembl 74_37 +1 known missense c.1124 p.Y375S 1.000 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 tier1 - - 94 0 0.00 81 36 30.77 BACH1 0 genome.wustl.edu 37 21 30968833 30968833 + RNA SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 21 30968833 30968833 T C SNP BACH1 ENST00000462262 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors BACH1 HGNC ENSG00000156273 tier1 - - 37 0 0.00 27 6 18.18 BACH1 0 genome.wustl.edu 37 21 30968833 30968833 + RNA SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 21 30968833 30968833 T C SNP BACH1 ENST00000462262 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors BACH1 HGNC ENSG00000156273 tier1 - - 53 0 0.00 27 6 18.18 BBC3 0 genome.wustl.edu 37 19 47725010 47725010 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 47725010 47725010 A G SNP BBC3 ENST00000449228 human ensembl 74_37 -1 known missense c.734 p.L245P 0.992 NULL NULL - no_errors BBC3 HGNC ENSG00000105327 tier1 - - 105 0 0.00 58 7 10.61 BCAR1 0 genome.wustl.edu 37 16 75263768 75263768 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 75263768 75263768 C T SNP BCAR1 ENST00000418647 human ensembl 74_37 -1 known missense c.2392 p.E798K 0.999 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC ENSG00000050820 tier1 - - 113 0 0.00 65 17 20.73 BCAR1 0 genome.wustl.edu 37 16 75263768 75263768 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 75263768 75263768 C T SNP BCAR1 ENST00000418647 human ensembl 74_37 -1 known missense c.2392 p.E798K 0.999 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC ENSG00000050820 tier1 - - 121 0 0.00 65 17 20.73 BCAS3 0 genome.wustl.edu 37 17 59152324 59152324 + Silent SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 59152324 59152324 T G SNP BCAS3 ENST00000390652 human ensembl 74_37 +1 known silent c.2118 p.S706 0.998 pfam_BCAS3 pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 tier1 - - 116 0 0.00 84 6 6.67 BCAS3 0 genome.wustl.edu 37 17 59152324 59152324 + Silent SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 59152324 59152324 T G SNP BCAS3 ENST00000390652 human ensembl 74_37 +1 known silent c.2118 p.S706 0.998 pfam_BCAS3 pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 tier1 - - 72 0 0.00 84 6 6.67 BCCIP 0 genome.wustl.edu 37 10 127520054 127520054 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 127520054 127520054 G C SNP BCCIP ENST00000368759 human ensembl 74_37 +1 known missense c.477 p.K159N 0.536 NULL NULL - no_errors BCCIP HGNC ENSG00000107949 90 0 0.00 74 4 5.13 BCKDHA 0 genome.wustl.edu 37 19 41903735 41903735 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 41903735 41903735 G T SNP BCKDHA ENST00000269980 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 tier1 - - 80 0 0.00 45 10 18.18 BCKDHA 0 genome.wustl.edu 37 19 41903735 41903735 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 41903735 41903735 G T SNP BCKDHA ENST00000269980 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 tier1 - - 97 0 0.00 45 10 18.18 BCL11B 0 genome.wustl.edu 37 14 99640661 99640661 + Nonsense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 99640661 99640661 T A SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known nonsense c.2512 p.K838* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 tier1 - - 29 0 0.00 10 7 41.18 BCL11B 0 genome.wustl.edu 37 14 99640661 99640661 + Nonsense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 99640661 99640661 T A SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known nonsense c.2512 p.K838* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 tier1 - - 38 0 0.00 10 7 41.18 BCLAF1 0 genome.wustl.edu 37 6 136599656 136599656 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 136599656 136599656 A G SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known silent c.363 p.S121 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 tier1 - - 110 0 0.00 76 19 20.00 BCLAF1 0 genome.wustl.edu 37 6 136599656 136599656 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 136599656 136599656 A G SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known silent c.363 p.S121 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 tier1 - - 95 0 0.00 76 19 20.00 BMP10 0 genome.wustl.edu 37 2 69093425 69093425 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 69093425 69093425 C A SNP BMP10 ENST00000295379 human ensembl 74_37 -1 known missense c.613 p.D205Y 0.798 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP10 HGNC ENSG00000163217 tier1 - - 59 0 0.00 41 8 16.33 BMP10 0 genome.wustl.edu 37 2 69093425 69093425 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 69093425 69093425 C A SNP BMP10 ENST00000295379 human ensembl 74_37 -1 known missense c.613 p.D205Y 0.798 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP10 HGNC ENSG00000163217 tier1 - - 67 0 0.00 41 8 16.33 BOD1L1 0 genome.wustl.edu 37 4 13605188 13605188 + Silent SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 13605188 13605188 T A SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known silent c.3336 p.T1112 0.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 tier1 - - 46 0 0.00 26 12 31.58 BOD1L1 0 genome.wustl.edu 37 4 13605188 13605188 + Silent SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 13605188 13605188 T A SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known silent c.3336 p.T1112 0.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 tier1 - - 61 0 0.00 26 12 31.58 BOLL 0 genome.wustl.edu 37 2 198650890 198650890 + RNA SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 198650890 198650890 C T SNP BOLL ENST00000486206 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors BOLL HGNC ENSG00000152430 tier1 - - 26 0 0.00 12 4 25.00 BOLL 0 genome.wustl.edu 37 2 198650890 198650890 + RNA SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 198650890 198650890 C T SNP BOLL ENST00000486206 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors BOLL HGNC ENSG00000152430 tier1 - - 40 0 0.00 12 4 25.00 BPIFC 0 genome.wustl.edu 37 22 32841868 32841868 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 32841868 32841868 G C SNP BPIFC ENST00000300399 human ensembl 74_37 -1 known missense c.490 p.Q164E 0.998 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFC HGNC ENSG00000184459 tier1 - - 117 0 0.00 69 37 34.91 BPTF 0 genome.wustl.edu 37 17 65907999 65907999 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 65907999 65907999 G T SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.4377 p.K1459N 0.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 84 0 0.00 46 3 6.12 BRDT 0 genome.wustl.edu 37 1 92447228 92447230 + In_Frame_Del DEL AGC AGC - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 92447228 92447230 AGC - DEL BRDT ENST00000362005 human ensembl 74_37 +1 known in_frame_del c.1918_1920 p.S643in_frame_del 0.989:0.998:1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 tier1 31 0 0.00 25 3 10.71 BTBD11 0 genome.wustl.edu 37 12 107713692 107713692 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 107713692 107713692 G A SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known silent c.975 p.P325 0.000 superfamily_Histone-fold pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 30 0 0.00 30 3 9.09 BTD 0 genome.wustl.edu 37 3 15643304 15643304 + RNA SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 15643304 15643304 C A SNP BTD ENST00000471964 human ensembl 74_37 +1 putative rna NULL NULL 0.002 - - - no_errors BTD HGNC ENSG00000169814 tier1 - - 90 0 0.00 37 7 15.91 BTD 0 genome.wustl.edu 37 3 15643304 15643304 + RNA SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 15643304 15643304 C A SNP BTD ENST00000471964 human ensembl 74_37 +1 putative rna NULL NULL 0.002 - - - no_errors BTD HGNC ENSG00000169814 tier1 - - 93 0 0.00 37 7 15.91 BZRAP1 0 genome.wustl.edu 37 17 56379792 56379792 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 56379792 56379792 G T SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.5561 p.T1854K 0.000 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 tier1 - - 108 0 0.00 72 5 6.49 BZRAP1 0 genome.wustl.edu 37 17 56379792 56379792 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 56379792 56379792 G T SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.5561 p.T1854K 0.000 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 tier1 - - 116 0 0.00 72 5 6.49 C15orf54 0 genome.wustl.edu 37 15 39544511 39544511 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 39544511 39544511 A G SNP C15orf54 ENST00000318578 human ensembl 74_37 +1 known missense c.175 p.T59A 0.000 NULL NULL - no_errors C15orf54 HGNC ENSG00000175746 tier1 - - 27 0 0.00 28 4 12.50 C15orf54 0 genome.wustl.edu 37 15 39544511 39544511 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 39544511 39544511 A G SNP C15orf54 ENST00000318578 human ensembl 74_37 +1 known missense c.175 p.T59A 0.000 NULL NULL - no_errors C15orf54 HGNC ENSG00000175746 tier1 - - 37 0 0.00 28 4 12.50 C1orf94 0 genome.wustl.edu 37 1 34663141 34663141 + Nonsense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 34663141 34663141 T A SNP C1orf94 ENST00000488417 human ensembl 74_37 +1 known nonsense c.636 p.C212* 0.002 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 tier1 - - 29 0 0.00 16 5 23.81 C1orf94 0 genome.wustl.edu 37 1 34663141 34663141 + Nonsense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 34663141 34663141 T A SNP C1orf94 ENST00000488417 human ensembl 74_37 +1 known nonsense c.636 p.C212* 0.002 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 tier1 - - 35 0 0.00 16 5 23.81 C21orf91 0 genome.wustl.edu 37 21 19168961 19168963 + In_Frame_Del DEL TCT TCT - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 21 19168961 19168963 TCT - DEL C21orf91 ENST00000284881 human ensembl 74_37 -1 known in_frame_del c.602_600 p.E201in_frame_del 0.946:0.984:0.998 pfam_EURL_prot pfam_EURL_prot - no_errors C21orf91 HGNC ENSG00000154642 tier1 35 0 0.00 37 12 24.49 C21orf91 0 genome.wustl.edu 37 21 19168961 19168963 + In_Frame_Del DEL TCT TCT - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 21 19168961 19168963 TCT - DEL C21orf91 ENST00000284881 human ensembl 74_37 -1 known in_frame_del c.602_600 p.E201in_frame_del 0.946:0.984:0.998 pfam_EURL_prot pfam_EURL_prot - no_errors C21orf91 HGNC ENSG00000154642 tier1 79 0 0.00 37 12 24.49 C2orf61 0 genome.wustl.edu 37 2 47314215 47314215 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 47314215 47314215 G C SNP C2orf61 ENST00000445927 human ensembl 74_37 -1 known missense c.679 p.P227A 0.000 NULL NULL - no_errors C2orf61 HGNC ENSG00000239605 tier1 - - 45 0 0.00 62 8 11.43 C2orf61 0 genome.wustl.edu 37 2 47314215 47314215 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 47314215 47314215 G C SNP C2orf61 ENST00000445927 human ensembl 74_37 -1 known missense c.679 p.P227A 0.000 NULL NULL - no_errors C2orf61 HGNC ENSG00000239605 tier1 - - 70 0 0.00 62 8 11.43 C3P1 0 genome.wustl.edu 37 19 10154379 10154379 + RNA SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 10154379 10154379 A G SNP C3P1 ENST00000495140 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors C3P1 HGNC ENSG00000167798 tier1 - - 74 0 0.00 49 5 9.26 C3P1 0 genome.wustl.edu 37 19 10154379 10154379 + RNA SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 10154379 10154379 A G SNP C3P1 ENST00000495140 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors C3P1 HGNC ENSG00000167798 tier1 - - 78 0 0.00 49 5 9.26 C3orf35 0 genome.wustl.edu 37 3 37458154 37458154 + RNA SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 37458154 37458154 G C SNP C3orf35 ENST00000466204 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors C3orf35 HGNC ENSG00000198590 tier1 - - 141 0 0.00 74 6 7.50 C3orf35 0 genome.wustl.edu 37 3 37458154 37458154 + RNA SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 37458154 37458154 G C SNP C3orf35 ENST00000466204 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors C3orf35 HGNC ENSG00000198590 tier1 - - 75 0 0.00 74 6 7.50 C6orf47 0 genome.wustl.edu 37 6 31626855 31626855 + Silent SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 31626855 31626855 C G SNP C6orf47 ENST00000375911 human ensembl 74_37 -1 known silent c.870 p.P290 0.000 NULL NULL - no_errors C6orf47 HGNC ENSG00000204439 tier1 - - 75 0 0.00 51 8 13.56 C6orf47 0 genome.wustl.edu 37 6 31626855 31626855 + Silent SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 31626855 31626855 C G SNP C6orf47 ENST00000375911 human ensembl 74_37 -1 known silent c.870 p.P290 0.000 NULL NULL - no_errors C6orf47 HGNC ENSG00000204439 tier1 - - 95 0 0.00 51 8 13.56 C9orf41 0 genome.wustl.edu 37 9 77631322 77631322 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 77631322 77631322 G T SNP C9orf41 ENST00000376834 human ensembl 74_37 -1 known missense c.452 p.S151Y 1.000 pfam_N2227 pfam_N2227 - no_errors C9orf41 HGNC ENSG00000156017 tier1 - - 66 0 0.00 70 4 5.41 C9orf41 0 genome.wustl.edu 37 9 77631322 77631322 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 77631322 77631322 G T SNP C9orf41 ENST00000376834 human ensembl 74_37 -1 known missense c.452 p.S151Y 1.000 pfam_N2227 pfam_N2227 - no_errors C9orf41 HGNC ENSG00000156017 tier1 - - 88 0 0.00 70 4 5.41 CABP1 0 genome.wustl.edu 37 12 121104685 121104685 + Silent SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 121104685 121104685 C G SNP CABP1 ENST00000316803 human ensembl 74_37 +1 known silent c.1095 p.V365 0.985 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP1 HGNC ENSG00000157782 tier1 - - 78 0 0.00 36 18 33.33 CABP1 0 genome.wustl.edu 37 12 121104685 121104685 + Silent SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 121104685 121104685 C G SNP CABP1 ENST00000316803 human ensembl 74_37 +1 known silent c.1095 p.V365 0.985 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP1 HGNC ENSG00000157782 tier1 - - 90 0 0.00 36 18 33.33 CACNA1F 0 genome.wustl.edu 37 X 49088266 49088266 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 49088266 49088266 C T SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known missense c.149 p.R50Q 0.927 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 tier1 - - 37 0 0.00 24 13 35.14 CACNA1F 0 genome.wustl.edu 37 X 49088266 49088266 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 49088266 49088266 C T SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known missense c.149 p.R50Q 0.927 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 tier1 - - 51 0 0.00 24 13 35.14 CAMK2B 0 genome.wustl.edu 37 7 44274000 44274000 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 44274000 44274000 G T SNP CAMK2B ENST00000395749 human ensembl 74_37 -1 known missense c.1120 p.P374T 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2B HGNC ENSG00000058404 tier1 - - 112 0 0.00 91 12 11.65 CAMK2B 0 genome.wustl.edu 37 7 44274000 44274000 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 44274000 44274000 G T SNP CAMK2B ENST00000395749 human ensembl 74_37 -1 known missense c.1120 p.P374T 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2B HGNC ENSG00000058404 tier1 - - 99 0 0.00 91 12 11.65 CAPN2 0 genome.wustl.edu 37 1 223949290 223949290 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 223949290 223949290 G T SNP CAPN2 ENST00000295006 human ensembl 74_37 +1 known missense c.1537 p.D513Y 0.997 superfamily_Calpain_domain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN2 HGNC ENSG00000162909 75 0 0.00 35 3 7.89 CAPN8 0 genome.wustl.edu 37 1 223816399 223816399 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 223816399 223816399 A T SNP CAPN8 ENST00000366872 human ensembl 74_37 -1 known missense c.391 p.F131I 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN8 HGNC ENSG00000203697 tier1 - - 114 0 0.00 66 7 9.46 CAPN8 0 genome.wustl.edu 37 1 223816399 223816399 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 223816399 223816399 A T SNP CAPN8 ENST00000366872 human ensembl 74_37 -1 known missense c.391 p.F131I 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN8 HGNC ENSG00000203697 tier1 - - 80 0 0.00 66 7 9.46 CASP16 0 genome.wustl.edu 37 16 3197439 3197439 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 3197439 3197439 C A SNP CASP16 ENST00000428155 human ensembl 74_37 +1 known missense c.100 p.Q34K 0.001 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20 - no_errors CASP16 HGNC ENSG00000228146 tier1 - - 37 0 0.00 10 12 52.17 CASP16 0 genome.wustl.edu 37 16 3197439 3197439 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 3197439 3197439 C A SNP CASP16 ENST00000428155 human ensembl 74_37 +1 known missense c.100 p.Q34K 0.001 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20 - no_errors CASP16 HGNC ENSG00000228146 tier1 - - 41 0 0.00 10 12 52.17 CBL 0 genome.wustl.edu 37 11 119146741 119146741 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 119146741 119146741 C G SNP CBL ENST00000264033 human ensembl 74_37 +1 known missense c.904 p.Q302E 1.000 pfam_Adaptor_Cbl_SH2-like pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 tier1 - - 102 0 0.00 62 5 7.46 CBL 0 genome.wustl.edu 37 11 119146741 119146741 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 119146741 119146741 C G SNP CBL ENST00000264033 human ensembl 74_37 +1 known missense c.904 p.Q302E 1.000 pfam_Adaptor_Cbl_SH2-like pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 tier1 - - 64 0 0.00 62 5 7.46 CCDC7 0 genome.wustl.edu 37 10 32833185 32833185 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 32833185 32833185 C T SNP CCDC7 ENST00000277657 human ensembl 74_37 +1 known missense c.1090 p.P364S 0.000 NULL NULL - no_errors CCDC7 HGNC ENSG00000216937 40 0 0.00 41 3 6.82 CCDC74B 0 genome.wustl.edu 37 2 130900418 130900418 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 130900418 130900418 G A SNP CCDC74B ENST00000392984 human ensembl 74_37 -1 known silent c.138 p.S46 0.000 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 tier1 - - 84 0 0.00 62 12 16.22 CCDC74B 0 genome.wustl.edu 37 2 130900418 130900418 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 130900418 130900418 G A SNP CCDC74B ENST00000392984 human ensembl 74_37 -1 known silent c.138 p.S46 0.000 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 tier1 - - 94 0 0.00 62 12 16.22 CCDC89 0 genome.wustl.edu 37 11 85396707 85396707 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 85396707 85396707 T G SNP CCDC89 ENST00000316398 human ensembl 74_37 -1 known missense c.467 p.K156T 0.996 NULL NULL - no_errors CCDC89 HGNC ENSG00000179071 tier1 - - 34 0 0.00 23 5 17.86 CCDC89 0 genome.wustl.edu 37 11 85396707 85396707 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 85396707 85396707 T G SNP CCDC89 ENST00000316398 human ensembl 74_37 -1 known missense c.467 p.K156T 0.996 NULL NULL - no_errors CCDC89 HGNC ENSG00000179071 tier1 - - 45 0 0.00 23 5 17.86 CCDC93 0 genome.wustl.edu 37 2 118693100 118693100 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 118693100 118693100 C A SNP CCDC93 ENST00000376300 human ensembl 74_37 -1 known missense c.1699 p.V567L 1.000 NULL pfam_DUF2037 - no_errors CCDC93 HGNC ENSG00000125633 tier1 - - 34 0 0.00 26 5 16.13 CCL4L2 0 genome.wustl.edu 37 17 34641385 34641385 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 34641385 34641385 G T SNP CCL4L2 ENST00000394463 human ensembl 74_37 +1 known missense c.245 p.R82M 0.000 smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL4L2 HGNC ENSG00000197262 tier1 - - 55 0 0.00 36 4 10.00 CCL4L2 0 genome.wustl.edu 37 17 34641385 34641385 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 34641385 34641385 G T SNP CCL4L2 ENST00000394463 human ensembl 74_37 +1 known missense c.245 p.R82M 0.000 smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL4L2 HGNC ENSG00000197262 tier1 - - 57 0 0.00 36 4 10.00 CCNJL 0 genome.wustl.edu 37 5 159682680 159682680 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 159682680 159682680 C T SNP CCNJL ENST00000393977 human ensembl 74_37 -1 known missense c.763 p.A255T 1.000 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJL HGNC ENSG00000135083 tier1 - - 39 0 0.00 14 7 33.33 CD53 0 genome.wustl.edu 37 1 111442367 111442367 + RNA SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 111442367 111442367 T A SNP CD53 ENST00000497404 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CD53 HGNC ENSG00000143119 tier1 - - 55 0 0.00 48 13 21.31 CD53 0 genome.wustl.edu 37 1 111442367 111442367 + RNA SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 111442367 111442367 T A SNP CD53 ENST00000497404 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CD53 HGNC ENSG00000143119 tier1 - - 72 0 0.00 48 13 21.31 CDC42EP4 0 genome.wustl.edu 37 17 71282691 71282691 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 71282691 71282691 G T SNP CDC42EP4 ENST00000581045 human ensembl 74_37 -1 putative rna NULL NULL 0.002 - - - no_errors CDC42EP4 HGNC ENSG00000179604 tier1 - - 49 0 0.00 20 3 13.04 CDC42EP4 0 genome.wustl.edu 37 17 71282691 71282691 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 71282691 71282691 G T SNP CDC42EP4 ENST00000581045 human ensembl 74_37 -1 putative rna NULL NULL 0.002 - - - no_errors CDC42EP4 HGNC ENSG00000179604 tier1 - - 63 0 0.00 20 3 13.04 CDH11 0 genome.wustl.edu 37 16 65005896 65005896 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 65005896 65005896 A C SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1462 p.F488V 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 75 0 0.00 73 7 8.75 CDH11 0 genome.wustl.edu 37 16 65005896 65005896 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 65005896 65005896 A C SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1462 p.F488V 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 82 0 0.00 73 7 8.75 CDK12 0 genome.wustl.edu 37 17 37657541 37657541 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 37657541 37657541 T A SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.2458 p.L820I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK12 HGNC ENSG00000167258 tier1 - - 104 0 0.00 207 29 12.29 CDK12 0 genome.wustl.edu 37 17 37657541 37657541 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 37657541 37657541 T A SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.2458 p.L820I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK12 HGNC ENSG00000167258 tier1 - - 125 0 0.00 207 29 12.29 CELSR2 0 genome.wustl.edu 37 1 109813595 109813597 + In_Frame_Del DEL CTG CTG - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 109813595 109813597 CTG - DEL CELSR2 ENST00000271332 human ensembl 74_37 +1 known in_frame_del c.7530_7532 p.C2511in_frame_del 1.000:1.000:1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 tier1 70 0 0.00 27 8 22.86 CELSR2 0 genome.wustl.edu 37 1 109813595 109813597 + In_Frame_Del DEL CTG CTG - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 109813595 109813597 CTG - DEL CELSR2 ENST00000271332 human ensembl 74_37 +1 known in_frame_del c.7530_7532 p.C2511in_frame_del 1.000:1.000:1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 tier1 72 0 0.00 27 8 22.86 CEP170B 0 genome.wustl.edu 37 14 105359959 105359959 + Nonsense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 105359959 105359959 G T SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known nonsense c.4246 p.E1416* 0.024 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 110 0 0.00 75 4 5.06 CEP170P1 0 genome.wustl.edu 37 4 119461452 119461452 + RNA SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 119461452 119461452 A C SNP CEP170P1 ENST00000412784 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CEP170P1 HGNC ENSG00000154608 128 0 0.00 69 6 8.00 CEP350 0 genome.wustl.edu 37 1 180059910 180059910 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 180059910 180059910 G C SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.6487 p.E2163Q 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 tier1 - - 143 0 0.00 95 8 7.77 CEP350 0 genome.wustl.edu 37 1 180059910 180059910 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 180059910 180059910 G C SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.6487 p.E2163Q 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 tier1 - - 95 0 0.00 95 8 7.77 CEP72 0 genome.wustl.edu 37 5 644475 644475 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 644475 644475 T C SNP CEP72 ENST00000264935 human ensembl 74_37 +1 known missense c.1601 p.L534S 0.898 NULL smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors CEP72 HGNC ENSG00000112877 71 0 0.00 56 5 8.20 CEP85 0 genome.wustl.edu 37 1 26603650 26603650 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 26603650 26603650 G T SNP CEP85 ENST00000252992 human ensembl 74_37 +1 known missense c.2155 p.D719Y 0.999 NULL NULL - no_errors CEP85 HGNC ENSG00000130695 50 0 0.00 30 2 6.25 CEP85L 0 genome.wustl.edu 37 6 118786715 118786715 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 118786715 118786715 A C SNP CEP85L ENST00000368488 human ensembl 74_37 -1 known silent c.2280 p.A760 1.000 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 tier1 - - 42 0 0.00 24 14 36.84 CEP85L 0 genome.wustl.edu 37 6 118786715 118786715 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 118786715 118786715 A C SNP CEP85L ENST00000368488 human ensembl 74_37 -1 known silent c.2280 p.A760 1.000 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 tier1 - - 49 0 0.00 24 14 36.84 CFHR3 0 genome.wustl.edu 37 1 196757426 196757426 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 196757426 196757426 A T SNP CFHR3 ENST00000367425 human ensembl 74_37 +1 known missense c.511 p.I171L 0.001 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC ENSG00000116785 59 0 0.00 63 4 5.97 CFTR 0 genome.wustl.edu 37 7 117305556 117305556 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 117305556 117305556 G T SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.4180 p.D1394Y 0.661 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 tier1 - - 24 0 0.00 21 4 16.00 CHAMP1 0 genome.wustl.edu 37 13 115091142 115091142 + Nonsense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 13 115091142 115091142 G T SNP CHAMP1 ENST00000361283 human ensembl 74_37 +1 known nonsense c.1825 p.E609* 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CHAMP1 HGNC ENSG00000198824 61 0 0.00 31 2 6.06 CHAT 0 genome.wustl.edu 37 10 50870765 50870765 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 50870765 50870765 G T SNP CHAT ENST00000337653 human ensembl 74_37 +1 known silent c.1914 p.L638 0.998 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 tier1 - - 55 0 0.00 38 4 9.52 CHAT 0 genome.wustl.edu 37 10 50870765 50870765 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 50870765 50870765 G T SNP CHAT ENST00000337653 human ensembl 74_37 +1 known silent c.1914 p.L638 0.998 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 tier1 - - 59 0 0.00 38 4 9.52 CHP2 0 genome.wustl.edu 37 16 23768870 23768870 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 23768870 23768870 T G SNP CHP2 ENST00000300113 human ensembl 74_37 +1 known missense c.557 p.V186G 0.986 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CHP2 HGNC ENSG00000166869 tier1 - - 106 0 0.00 76 22 22.45 CHP2 0 genome.wustl.edu 37 16 23768870 23768870 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 23768870 23768870 T G SNP CHP2 ENST00000300113 human ensembl 74_37 +1 known missense c.557 p.V186G 0.986 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CHP2 HGNC ENSG00000166869 tier1 - - 95 0 0.00 76 22 22.45 CHSY3 0 genome.wustl.edu 37 5 129520423 129520423 + Frame_Shift_Del DEL A A - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 129520423 129520423 A - DEL CHSY3 ENST00000305031 human ensembl 74_37 +1 known frame_shift_del c.1588 p.N530fs 0.984 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 tier1 98 0 0.00 46 18 28.12 CLEC2B 0 genome.wustl.edu 37 12 10010204 10010204 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 10010204 10010204 G T SNP CLEC2B ENST00000228438 human ensembl 74_37 -1 known missense c.106 p.P36T 0.424 pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC2B HGNC ENSG00000110852 tier1 - - 35 0 0.00 56 14 20.00 CLEC2B 0 genome.wustl.edu 37 12 10010204 10010204 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 10010204 10010204 G T SNP CLEC2B ENST00000228438 human ensembl 74_37 -1 known missense c.106 p.P36T 0.424 pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC2B HGNC ENSG00000110852 tier1 - - 71 0 0.00 56 14 20.00 CLPSL2 0 genome.wustl.edu 37 6 35745305 35745305 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 35745305 35745305 G T SNP CLPSL2 ENST00000360454 human ensembl 74_37 +1 known missense c.154 p.G52C 0.000 NULL NULL - no_errors CLPSL2 HGNC ENSG00000196748 tier1 - - 62 0 0.00 27 19 41.30 CLPSL2 0 genome.wustl.edu 37 6 35745305 35745305 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 35745305 35745305 G T SNP CLPSL2 ENST00000360454 human ensembl 74_37 +1 known missense c.154 p.G52C 0.000 NULL NULL - no_errors CLPSL2 HGNC ENSG00000196748 tier1 - - 63 0 0.00 27 19 41.30 CLSPN 0 genome.wustl.edu 37 1 36230905 36230905 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 36230905 36230905 G T SNP CLSPN ENST00000318121 human ensembl 74_37 -1 known missense c.47 p.P16Q 0.441 NULL NULL - no_errors CLSPN HGNC ENSG00000092853 82 0 0.00 48 4 7.69 CNDP2 0 genome.wustl.edu 37 18 72178185 72178185 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 72178185 72178185 G T SNP CNDP2 ENST00000324262 human ensembl 74_37 +1 known missense c.594 p.W198C 1.000 pfam_Peptidase_M20,pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP2 HGNC ENSG00000133313 tier1 - - 86 0 0.00 63 4 5.97 CNNM2 0 genome.wustl.edu 37 10 104814134 104814134 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 104814134 104814134 A G SNP CNNM2 ENST00000369878 human ensembl 74_37 +1 known missense c.1814 p.D605G 1.000 superfamily_cNMP-bd-like pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 tier1 - - 57 0 0.00 44 6 11.76 CNNM2 0 genome.wustl.edu 37 10 104814134 104814134 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 104814134 104814134 A G SNP CNNM2 ENST00000369878 human ensembl 74_37 +1 known missense c.1814 p.D605G 1.000 superfamily_cNMP-bd-like pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 tier1 - - 74 0 0.00 44 6 11.76 CNNM4 0 genome.wustl.edu 37 2 97462821 97462821 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 97462821 97462821 G T SNP CNNM4 ENST00000377075 human ensembl 74_37 +1 known missense c.1475 p.G492V 1.000 pfam_CBS_dom pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNNM4 HGNC ENSG00000158158 89 0 0.00 61 4 6.15 CNPY1 0 genome.wustl.edu 37 7 155301718 155301718 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 155301718 155301718 C T SNP CNPY1 ENST00000321736 human ensembl 74_37 -1 putative silent c.15 p.K5 0.993 pfam_DUF3456 pfam_DUF3456 - no_errors CNPY1 HGNC ENSG00000146910 tier1 - - 52 0 0.00 25 26 50.98 CNPY1 0 genome.wustl.edu 37 7 155301718 155301718 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 155301718 155301718 C T SNP CNPY1 ENST00000321736 human ensembl 74_37 -1 putative silent c.15 p.K5 0.993 pfam_DUF3456 pfam_DUF3456 - no_errors CNPY1 HGNC ENSG00000146910 tier1 - - 81 0 0.00 25 26 50.98 CNTLN 0 genome.wustl.edu 37 9 17309171 17309171 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 17309171 17309171 A C SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.1262 p.K421T 1.000 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 tier1 - - 39 0 0.00 27 8 22.86 CNTLN 0 genome.wustl.edu 37 9 17309171 17309171 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 17309171 17309171 A C SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.1262 p.K421T 1.000 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 tier1 - - 69 0 0.00 27 8 22.86 CNTN1 0 genome.wustl.edu 37 12 41327555 41327555 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 41327555 41327555 A T SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.860 p.E287V 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 tier1 - - 45 0 0.00 53 4 7.02 CNTN1 0 genome.wustl.edu 37 12 41327555 41327555 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 41327555 41327555 A T SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.860 p.E287V 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 tier1 - - 46 0 0.00 53 4 7.02 CNTNAP1 0 genome.wustl.edu 37 17 40847736 40847736 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 40847736 40847736 C G SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known missense c.3190 p.R1064G 0.050 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 55 0 0.00 51 3 5.56 CNTNAP2 0 genome.wustl.edu 37 7 147675066 147675066 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 147675066 147675066 C T SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.2368 p.R790C 1.000 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 rs200089329 - 51 0 0.00 29 17 36.96 CNTNAP2 0 genome.wustl.edu 37 7 147675066 147675066 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 147675066 147675066 C T SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.2368 p.R790C 1.000 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 rs200089329 - 69 0 0.00 29 17 36.96 COL14A1 0 genome.wustl.edu 37 8 121301870 121301870 + Silent SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 121301870 121301870 T G SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known silent c.4101 p.T1367 0.394 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 tier1 - - 100 0 0.00 109 8 6.84 COL14A1 0 genome.wustl.edu 37 8 121301870 121301870 + Silent SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 121301870 121301870 T G SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known silent c.4101 p.T1367 0.394 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 tier1 - - 102 0 0.00 109 8 6.84 COL24A1 0 genome.wustl.edu 37 1 86362043 86362043 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 86362043 86362043 G T SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.2828 p.A943D 0.850 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 tier1 - - 101 0 0.00 63 4 5.97 COL24A1 0 genome.wustl.edu 37 1 86362043 86362043 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 86362043 86362043 G T SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.2828 p.A943D 0.850 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 tier1 - - 58 0 0.00 63 4 5.97 COL24A1 0 genome.wustl.edu 37 1 86249802 86249802 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 86249802 86249802 G T SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known silent c.4215 p.G1405 0.741 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 83 0 0.00 51 3 5.56 COL6A4P1 0 genome.wustl.edu 37 3 15219144 15219144 + RNA SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 15219144 15219144 T G SNP COL6A4P1 ENST00000446690 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COL6A4P1 HGNC ENSG00000230524 tier1 - - 41 0 0.00 24 4 14.29 COL6A4P1 0 genome.wustl.edu 37 3 15219144 15219144 + RNA SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 15219144 15219144 T G SNP COL6A4P1 ENST00000446690 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COL6A4P1 HGNC ENSG00000230524 tier1 - - 43 0 0.00 24 4 14.29 COL6A5 0 genome.wustl.edu 37 3 130114047 130114047 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 130114047 130114047 A C SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known silent c.3307 p.R1103 0.186 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 74 0 0.00 62 9 12.68 COL6A5 0 genome.wustl.edu 37 3 130114047 130114047 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 130114047 130114047 A C SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known silent c.3307 p.R1103 0.186 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 84 0 0.00 62 9 12.68 COL6A5 0 genome.wustl.edu 37 3 130114055 130114055 + Silent SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 130114055 130114055 T A SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known silent c.3315 p.A1105 0.383 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 72 0 0.00 55 11 16.67 COL6A5 0 genome.wustl.edu 37 3 130114055 130114055 + Silent SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 130114055 130114055 T A SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known silent c.3315 p.A1105 0.383 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 85 0 0.00 55 11 16.67 COL6A6 0 genome.wustl.edu 37 3 130300658 130300658 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 130300658 130300658 T A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.3801 p.D1267E 0.000 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 tier1 - - 32 0 0.00 37 9 19.57 COL6A6 0 genome.wustl.edu 37 3 130300658 130300658 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 130300658 130300658 T A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.3801 p.D1267E 0.000 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 tier1 - - 51 0 0.00 37 9 19.57 COLQ 0 genome.wustl.edu 37 3 15512148 15512148 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 15512148 15512148 G A SNP COLQ ENST00000435459 human ensembl 74_37 -1 known silent c.582 p.L194 0.010 NULL pfam_Collagen,tigrfam_Myxo_disulph_rpt - no_errors COLQ HGNC ENSG00000206561 tier1 - - 137 0 0.00 41 9 18.00 COLQ 0 genome.wustl.edu 37 3 15512148 15512148 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 15512148 15512148 G A SNP COLQ ENST00000435459 human ensembl 74_37 -1 known silent c.582 p.L194 0.010 NULL pfam_Collagen,tigrfam_Myxo_disulph_rpt - no_errors COLQ HGNC ENSG00000206561 tier1 - - 80 0 0.00 41 9 18.00 CORO7-PAM16 0 genome.wustl.edu 37 16 4412009 4412009 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 4412009 4412009 C T SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known missense c.1555 p.G519R 1.000 NULL pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 tier1 - - 49 0 0.00 16 11 40.74 CORO7-PAM16 0 genome.wustl.edu 37 16 4412009 4412009 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 4412009 4412009 C T SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known missense c.1555 p.G519R 1.000 NULL pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 tier1 - - 59 0 0.00 16 11 40.74 CP 0 genome.wustl.edu 37 3 148897347 148897347 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 148897347 148897347 A C SNP CP ENST00000264613 human ensembl 74_37 -1 known missense c.2657 p.V886G 1.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 tier1 - - 58 0 0.00 49 9 15.25 CRIM1 0 genome.wustl.edu 37 2 36706789 36706789 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 36706789 36706789 T C SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known missense c.1324 p.C442R 1.000 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 89 0 0.00 73 4 5.19 CRISP3 0 genome.wustl.edu 37 6 49698876 49698876 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 49698876 49698876 T A SNP CRISP3 ENST00000433368 human ensembl 74_37 -1 known missense c.679 p.T227S 1.000 pfam_Cysteine_rich_secretory pfam_CAP_domain,pfam_Cysteine_rich_secretory,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors CRISP3 HGNC ENSG00000096006 65 0 0.00 42 4 8.70 CRNKL1 0 genome.wustl.edu 37 20 20020401 20020401 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 20020401 20020401 T G SNP CRNKL1 ENST00000377340 human ensembl 74_37 -1 known missense c.1880 p.K627T 1.000 smart_HAT pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 tier1 - - 115 0 0.00 90 5 5.26 CRNKL1 0 genome.wustl.edu 37 20 20020401 20020401 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 20020401 20020401 T G SNP CRNKL1 ENST00000377340 human ensembl 74_37 -1 known missense c.1880 p.K627T 1.000 smart_HAT pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 tier1 - - 97 0 0.00 90 5 5.26 CSF1R 0 genome.wustl.edu 37 5 149441411 149441411 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 149441411 149441411 T G SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known missense c.1628 p.K543T 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 49 0 0.00 32 2 5.88 CSGALNACT1 0 genome.wustl.edu 37 8 19362935 19362935 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 19362935 19362935 G T SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known silent c.411 p.V137 0.987 NULL pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 tier1 - - 22 0 0.00 3 7 70.00 CSGALNACT1 0 genome.wustl.edu 37 8 19362935 19362935 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 19362935 19362935 G T SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known silent c.411 p.V137 0.987 NULL pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 tier1 - - 27 0 0.00 3 7 70.00 CSMD2 0 genome.wustl.edu 37 1 34011676 34011676 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 34011676 34011676 C G SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.9061 p.A3021P 0.700 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 - - 45 0 0.00 22 8 26.67 CSMD2 0 genome.wustl.edu 37 1 34011676 34011676 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 34011676 34011676 C G SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.9061 p.A3021P 0.700 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 - - 52 0 0.00 22 8 26.67 CSMD3 0 genome.wustl.edu 37 8 113318414 113318414 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 113318414 113318414 G T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.7893 p.S2631 1.000 superfamily_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 CSMD3 HGNC ENSG00000164796 tier1 - - 31 0 0.00 47 4 7.84 CSMD3 0 genome.wustl.edu 37 8 113318414 113318414 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 113318414 113318414 G T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.7893 p.S2631 1.000 superfamily_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 CSMD3 HGNC ENSG00000164796 tier1 - - 52 0 0.00 47 4 7.84 CSMD3 0 genome.wustl.edu 37 8 114448977 114448977 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 114448977 114448977 T G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.107 p.K36T 1.000 NULL 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 CSMD3 HGNC ENSG00000164796 tier1 - - 76 0 0.00 51 9 15.00 CSMD3 0 genome.wustl.edu 37 8 114448977 114448977 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 114448977 114448977 T G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.107 p.K36T 1.000 NULL 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 CSMD3 HGNC ENSG00000164796 tier1 - - 78 0 0.00 51 9 15.00 CTBP1-AS2 0 genome.wustl.edu 37 4 1244302 1244302 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 1244302 1244302 G T SNP CTBP1-AS2 ENST00000578730 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CTBP1-AS2 HGNC ENSG00000196810 tier1 - - 61 0 0.00 43 4 8.51 CTBP1-AS2 0 genome.wustl.edu 37 4 1244302 1244302 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 1244302 1244302 G T SNP CTBP1-AS2 ENST00000578730 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CTBP1-AS2 HGNC ENSG00000196810 tier1 - - 79 0 0.00 43 4 8.51 CTBS 0 genome.wustl.edu 37 1 85036366 85036366 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 85036366 85036366 G T SNP CTBS ENST00000370630 human ensembl 74_37 -1 known missense c.215 p.S72Y 0.927 superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CTBS HGNC ENSG00000117151 80 0 0.00 36 2 5.26 CTSH 0 genome.wustl.edu 37 15 79221834 79221834 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 79221834 79221834 C A SNP CTSH ENST00000220166 human ensembl 74_37 -1 known missense c.550 p.G184C 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSH HGNC ENSG00000103811 tier1 - - 110 0 0.00 42 12 21.82 CTSH 0 genome.wustl.edu 37 15 79221834 79221834 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 79221834 79221834 C A SNP CTSH ENST00000220166 human ensembl 74_37 -1 known missense c.550 p.G184C 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSH HGNC ENSG00000103811 tier1 - - 118 0 0.00 42 12 21.82 CUBN 0 genome.wustl.edu 37 10 16970209 16970209 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 16970209 16970209 A T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.6218 p.F2073Y 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 76 0 0.00 68 5 6.85 CUBN 0 genome.wustl.edu 37 10 16970209 16970209 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 16970209 16970209 A T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.6218 p.F2073Y 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 92 0 0.00 68 5 6.85 CUBN 0 genome.wustl.edu 37 10 17171223 17171223 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 17171223 17171223 T G SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.149 p.N50T 0.999 NULL pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 47 0 0.00 46 15 24.59 CUBN 0 genome.wustl.edu 37 10 17171223 17171223 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 17171223 17171223 T G SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.149 p.N50T 0.999 NULL pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 77 0 0.00 46 15 24.59 CUL9 0 genome.wustl.edu 37 6 43160940 43160940 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 43160940 43160940 G T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known silent c.2382 p.G794 0.831 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 tier1 - - 31 0 0.00 27 4 12.90 CYFIP1 0 genome.wustl.edu 37 15 22945048 22945048 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 22945048 22945048 G T SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known silent c.1119 p.T373 0.132 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 tier1 - - 32 0 0.00 21 4 16.00 CYFIP1 0 genome.wustl.edu 37 15 22945048 22945048 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 22945048 22945048 G T SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known silent c.1119 p.T373 0.132 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 tier1 - - 45 0 0.00 21 4 16.00 CYP4F22 0 genome.wustl.edu 37 19 15648359 15648359 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 15648359 15648359 G A SNP CYP4F22 ENST00000269703 human ensembl 74_37 +1 known silent c.435 p.L145 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F22 HGNC ENSG00000171954 67 0 0.00 43 4 8.51 CYP8B1 0 genome.wustl.edu 37 3 42916054 42916054 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 42916054 42916054 A G SNP CYP8B1 ENST00000316161 human ensembl 74_37 -1 known missense c.1255 p.F419L 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP8B1 HGNC ENSG00000180432 tier1 - - 66 0 0.00 53 11 17.19 CYP8B1 0 genome.wustl.edu 37 3 42916054 42916054 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 42916054 42916054 A G SNP CYP8B1 ENST00000316161 human ensembl 74_37 -1 known missense c.1255 p.F419L 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP8B1 HGNC ENSG00000180432 tier1 - - 80 0 0.00 53 11 17.19 DCC 0 genome.wustl.edu 37 18 51025732 51025732 + Silent SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 51025732 51025732 T A SNP DCC ENST00000442544 human ensembl 74_37 +1 known silent c.3963 p.S1321 0.993 pfam_Neogenin_C 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 - - 107 0 0.00 34 16 32.00 DCC 0 genome.wustl.edu 37 18 51025732 51025732 + Silent SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 51025732 51025732 T A SNP DCC ENST00000442544 human ensembl 74_37 +1 known silent c.3963 p.S1321 0.993 pfam_Neogenin_C 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 - - 125 0 0.00 34 16 32.00 DCDC1 0 genome.wustl.edu 37 11 30915886 30915886 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 30915886 30915886 T A SNP DCDC1 ENST00000406071 human ensembl 74_37 -1 known missense c.1016 p.K339M 0.007 NULL NULL - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 105 0 0.00 54 14 20.59 DCDC1 0 genome.wustl.edu 37 11 30915886 30915886 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 30915886 30915886 T A SNP DCDC1 ENST00000406071 human ensembl 74_37 -1 known missense c.1016 p.K339M 0.007 NULL NULL - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 82 0 0.00 54 14 20.59 DCDC1 0 genome.wustl.edu 37 11 30915917 30915917 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 30915917 30915917 C A SNP DCDC1 ENST00000406071 human ensembl 74_37 -1 known missense c.985 p.A329S 0.271 NULL NULL - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 73 0 0.00 49 10 16.95 DCDC1 0 genome.wustl.edu 37 11 30915917 30915917 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 30915917 30915917 C A SNP DCDC1 ENST00000406071 human ensembl 74_37 -1 known missense c.985 p.A329S 0.271 NULL NULL - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 87 0 0.00 49 10 16.95 DCSTAMP 0 genome.wustl.edu 37 8 105361786 105361786 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 105361786 105361786 G A SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known missense c.1006 p.V336I 0.993 pfam_DC_STAMP-like,superfamily_ABC1_TM_dom pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 tier1 - - 69 0 0.00 52 7 11.86 DCSTAMP 0 genome.wustl.edu 37 8 105361786 105361786 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 105361786 105361786 G A SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known missense c.1006 p.V336I 0.993 pfam_DC_STAMP-like,superfamily_ABC1_TM_dom pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 tier1 - - 95 0 0.00 52 7 11.86 DEFB110 0 genome.wustl.edu 37 6 49986804 49986804 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 49986804 49986804 G A SNP DEFB110 ENST00000371148 human ensembl 74_37 -1 known silent c.90 p.D30 0.654 NULL NULL - no_errors DEFB110 HGNC ENSG00000203970 tier1 - - 49 0 0.00 36 28 43.75 DEFB110 0 genome.wustl.edu 37 6 49986804 49986804 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 49986804 49986804 G A SNP DEFB110 ENST00000371148 human ensembl 74_37 -1 known silent c.90 p.D30 0.654 NULL NULL - no_errors DEFB110 HGNC ENSG00000203970 tier1 - - 71 0 0.00 36 28 43.75 DEFB124 0 genome.wustl.edu 37 20 30053340 30053340 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 30053340 30053340 G A SNP DEFB124 ENST00000317676 human ensembl 74_37 -1 known missense c.185 p.P62L 0.066 NULL NULL - no_errors DEFB124 HGNC ENSG00000180383 tier1 - - 74 0 0.00 96 13 11.93 DEFB124 0 genome.wustl.edu 37 20 30053340 30053340 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 30053340 30053340 G A SNP DEFB124 ENST00000317676 human ensembl 74_37 -1 known missense c.185 p.P62L 0.066 NULL NULL - no_errors DEFB124 HGNC ENSG00000180383 tier1 - - 98 0 0.00 96 13 11.93 DENND3 0 genome.wustl.edu 37 8 142148124 142148124 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 142148124 142148124 G T SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.149 p.G50V 0.992 pfam_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 tier1 - - 79 0 0.00 88 5 5.38 DENND3 0 genome.wustl.edu 37 8 142148124 142148124 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 142148124 142148124 G T SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.149 p.G50V 0.992 pfam_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 tier1 - - 93 0 0.00 88 5 5.38 DENND4B 0 genome.wustl.edu 37 1 153913489 153913489 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 153913489 153913489 C T SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.1217 p.G406D 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 tier1 - - 29 0 0.00 31 8 20.51 DENND4B 0 genome.wustl.edu 37 1 153913489 153913489 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 153913489 153913489 C T SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.1217 p.G406D 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 tier1 - - 45 0 0.00 31 8 20.51 DGKB 0 genome.wustl.edu 37 7 14797303 14797303 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 14797303 14797303 G A SNP DGKB ENST00000258767 human ensembl 74_37 -1 known missense c.124 p.L42F 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 tier1 - - 150 0 0.00 144 10 6.49 DGKB 0 genome.wustl.edu 37 7 14797303 14797303 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 14797303 14797303 G A SNP DGKB ENST00000258767 human ensembl 74_37 -1 known missense c.124 p.L42F 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 tier1 - - 99 0 0.00 144 10 6.49 DHX32 0 genome.wustl.edu 37 10 127527584 127527584 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 127527584 127527584 C A SNP DHX32 ENST00000284690 human ensembl 74_37 -1 known missense c.1867 p.G623C 0.999 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC ENSG00000089876 86 0 0.00 47 3 6.00 DIP2B 0 genome.wustl.edu 37 12 51138500 51138500 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 51138500 51138500 G A SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.4609 p.V1537M 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 tier1 - - 48 0 0.00 23 13 36.11 DIP2B 0 genome.wustl.edu 37 12 51138500 51138500 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 51138500 51138500 G A SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.4609 p.V1537M 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 tier1 - - 53 0 0.00 23 13 36.11 DLD 0 genome.wustl.edu 37 7 107542800 107542800 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 107542800 107542800 G T SNP DLD ENST00000205402 human ensembl 74_37 +1 known missense c.229 p.G77C 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,pfam_GIDA-rel,tigrfam_Lipoamide_DH pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH - no_errors DLD HGNC ENSG00000091140 tier1 - - 69 0 0.00 65 6 8.45 DLGAP1 0 genome.wustl.edu 37 18 3534291 3534291 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 3534291 3534291 G T SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known missense c.2380 p.H794N 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 tier1 - - 42 0 0.00 34 4 10.53 DLGAP1 0 genome.wustl.edu 37 18 3534291 3534291 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 3534291 3534291 G T SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known missense c.2380 p.H794N 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 tier1 - - 64 0 0.00 34 4 10.53 DMBT1 0 genome.wustl.edu 37 10 124390531 124390531 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 124390531 124390531 G A SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.5693 p.R1898H 0.994 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 tier1 - - 127 0 0.00 73 27 27.00 DMBT1 0 genome.wustl.edu 37 10 124390531 124390531 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 124390531 124390531 G A SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.5693 p.R1898H 0.994 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 tier1 - - 137 0 0.00 73 27 27.00 DMD 0 genome.wustl.edu 37 X 32328222 32328222 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 32328222 32328222 A C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.6094 p.F2032V 0.997 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 28 0 0.00 36 15 29.41 DMD 0 genome.wustl.edu 37 X 32328222 32328222 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 32328222 32328222 A C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.6094 p.F2032V 0.997 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 43 0 0.00 36 15 29.41 DMGDH 0 genome.wustl.edu 37 5 78324364 78324364 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 78324364 78324364 G T SNP DMGDH ENST00000255189 human ensembl 74_37 -1 known missense c.1924 p.Q642K 0.998 pfam_GCV_T_N,pfam_SoxG pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors DMGDH HGNC ENSG00000132837 72 0 0.00 42 3 6.67 DNAH10 0 genome.wustl.edu 37 12 124350580 124350580 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 124350580 124350580 G T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.6773 p.R2258L 0.017 NULL 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 - - 68 0 0.00 68 4 5.56 DNAH10 0 genome.wustl.edu 37 12 124350580 124350580 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 124350580 124350580 G T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.6773 p.R2258L 0.017 NULL 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 - - 89 0 0.00 68 4 5.56 DNAH10OS 0 genome.wustl.edu 37 12 124418874 124418874 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 124418874 124418874 A C SNP DNAH10OS ENST00000514254 human ensembl 74_37 -1 novel missense c.257 p.L86R 0.000 NULL NULL - no_errors DNAH10OS HGNC ENSG00000250091 tier1 - - 47 0 0.00 19 5 20.83 DNAH10OS 0 genome.wustl.edu 37 12 124418874 124418874 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 124418874 124418874 A C SNP DNAH10OS ENST00000514254 human ensembl 74_37 -1 novel missense c.257 p.L86R 0.000 NULL NULL - no_errors DNAH10OS HGNC ENSG00000250091 tier1 - - 54 0 0.00 19 5 20.83 DNAH14 0 genome.wustl.edu 37 1 225569205 225569206 + Frame_Shift_Del DEL GA GA - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 225569205 225569206 GA - DEL DNAH14 ENST00000430092 human ensembl 74_37 +1 known frame_shift_del c.12695_12696 p.E4233fs 0.995:0.460 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 102 0 0.00 87 12 12.12 DNAH14 0 genome.wustl.edu 37 1 225569205 225569206 + Frame_Shift_Del DEL GA GA - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 225569205 225569206 GA - DEL DNAH14 ENST00000430092 human ensembl 74_37 +1 known frame_shift_del c.12695_12696 p.E4233fs 0.995:0.460 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 60 0 0.00 87 12 12.12 DNAH5 0 genome.wustl.edu 37 5 13769199 13769199 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 13769199 13769199 T G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.9767 p.K3256T 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 39 0 0.00 28 4 12.50 DNAH5 0 genome.wustl.edu 37 5 13769199 13769199 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 13769199 13769199 T G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.9767 p.K3256T 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 61 0 0.00 28 4 12.50 DNAH7 0 genome.wustl.edu 37 2 196801481 196801481 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 196801481 196801481 T A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.3114 p.R1038S 0.023 pfam_Dynein_heavy_dom-2 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 - - 44 0 0.00 53 9 14.52 DNAH7 0 genome.wustl.edu 37 2 196801481 196801481 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 196801481 196801481 T A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.3114 p.R1038S 0.023 pfam_Dynein_heavy_dom-2 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 - - 59 0 0.00 53 9 14.52 DNAH9 0 genome.wustl.edu 37 17 11511558 11511558 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 11511558 11511558 T A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.530 p.L177H 0.763 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 tier1 - - 53 0 0.00 40 10 20.00 DNAH9 0 genome.wustl.edu 37 17 11511558 11511558 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 11511558 11511558 T A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.530 p.L177H 0.763 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 tier1 - - 69 0 0.00 40 10 20.00 DNAJC8 0 genome.wustl.edu 37 1 28535044 28535045 + RNA INS - - A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 28535044 28535045 - A INS DNAJC8 ENST00000470967 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors DNAJC8 HGNC ENSG00000126698 tier1 15 0 0.00 15 4 21.05 DNER 0 genome.wustl.edu 37 2 230456533 230456535 + In_Frame_Del DEL GCT GCT - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 230456533 230456535 GCT - DEL DNER ENST00000341772 human ensembl 74_37 -1 known in_frame_del c.348_346 p.S116in_frame_del 0.003:0.004:0.006 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 tier1 47 0 0.00 35 4 10.26 DOCK3 0 genome.wustl.edu 37 3 51112836 51112836 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 51112836 51112836 T A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.514 p.S172T 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 105 0 0.00 57 27 31.76 DOCK3 0 genome.wustl.edu 37 3 51112836 51112836 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 51112836 51112836 T A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.514 p.S172T 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 119 0 0.00 57 27 31.76 DOK3 0 genome.wustl.edu 37 5 176936846 176936846 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 176936846 176936846 C G SNP DOK3 ENST00000357198 human ensembl 74_37 -1 known missense c.8 p.R3P 0.296 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK3 HGNC ENSG00000146094 tier1 - - 12 0 0.00 4 5 55.56 DOLK 0 genome.wustl.edu 37 9 131709253 131709253 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 131709253 131709253 A G SNP DOLK ENST00000372586 human ensembl 74_37 -1 known silent c.330 p.F110 0.998 NULL NULL - no_errors DOLK HGNC ENSG00000175283 tier1 - - 83 0 0.00 54 10 15.62 DOLK 0 genome.wustl.edu 37 9 131709253 131709253 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 131709253 131709253 A G SNP DOLK ENST00000372586 human ensembl 74_37 -1 known silent c.330 p.F110 0.998 NULL NULL - no_errors DOLK HGNC ENSG00000175283 tier1 - - 98 0 0.00 54 10 15.62 DOLK 0 genome.wustl.edu 37 9 131709261 131709261 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 131709261 131709261 C G SNP DOLK ENST00000372586 human ensembl 74_37 -1 known missense c.322 p.E108Q 1.000 NULL NULL - no_errors DOLK HGNC ENSG00000175283 tier1 - - 108 0 0.00 59 9 13.24 DOLK 0 genome.wustl.edu 37 9 131709261 131709261 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 131709261 131709261 C G SNP DOLK ENST00000372586 human ensembl 74_37 -1 known missense c.322 p.E108Q 1.000 NULL NULL - no_errors DOLK HGNC ENSG00000175283 tier1 - - 87 0 0.00 59 9 13.24 DPF3 0 genome.wustl.edu 37 14 73137841 73137841 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 73137841 73137841 G T SNP DPF3 ENST00000557704 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors DPF3 HGNC ENSG00000205683 tier1 - - 88 0 0.00 65 4 5.80 DPF3 0 genome.wustl.edu 37 14 73137841 73137841 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 73137841 73137841 G T SNP DPF3 ENST00000557704 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors DPF3 HGNC ENSG00000205683 tier1 - - 94 0 0.00 65 4 5.80 DPP10 0 genome.wustl.edu 37 2 116510750 116510750 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 116510750 116510750 A C SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.963 p.R321S 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 tier1 - - 110 0 0.00 44 47 51.65 DPP10 0 genome.wustl.edu 37 2 116510750 116510750 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 116510750 116510750 A C SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.963 p.R321S 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 tier1 - - 84 0 0.00 44 47 51.65 DPP10 0 genome.wustl.edu 37 2 116593762 116593762 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 116593762 116593762 C G SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.1992 p.I664M 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 68 0 0.00 44 3 6.38 DPY19L1 0 genome.wustl.edu 37 7 34994389 34994389 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 34994389 34994389 A C SNP DPY19L1 ENST00000310974 human ensembl 74_37 -1 known missense c.1022 p.V341G 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L1 HGNC ENSG00000173852 tier1 - - 102 0 0.00 112 10 8.20 DPY19L1 0 genome.wustl.edu 37 7 34994389 34994389 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 34994389 34994389 A C SNP DPY19L1 ENST00000310974 human ensembl 74_37 -1 known missense c.1022 p.V341G 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L1 HGNC ENSG00000173852 tier1 - - 66 0 0.00 112 10 8.20 DPY19L2P1 0 genome.wustl.edu 37 7 35142549 35142549 + RNA SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 35142549 35142549 A G SNP DPY19L2P1 ENST00000458672 human ensembl 74_37 -1 known rna NULL NULL 0.990 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 tier1 - - 103 0 0.00 169 10 5.59 DPY19L2P1 0 genome.wustl.edu 37 7 35142549 35142549 + RNA SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 35142549 35142549 A G SNP DPY19L2P1 ENST00000458672 human ensembl 74_37 -1 known rna NULL NULL 0.990 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 tier1 - - 145 0 0.00 169 10 5.59 DST 0 genome.wustl.edu 37 6 56437847 56437847 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 56437847 56437847 T C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.13159 p.I4387V 1.000 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 34 0 0.00 31 21 40.38 DST 0 genome.wustl.edu 37 6 56437847 56437847 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 56437847 56437847 T C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.13159 p.I4387V 1.000 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 39 0 0.00 31 21 40.38 DST 0 genome.wustl.edu 37 6 56507454 56507454 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 56507454 56507454 T C SNP DST ENST00000446842 human ensembl 74_37 -1 known missense c.133 p.I45V 1.000 NULL pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_GAS2_dom,superfamily_GAS2_dom,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 33 0 0.00 53 4 7.02 DST 0 genome.wustl.edu 37 6 56507454 56507454 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 56507454 56507454 T C SNP DST ENST00000446842 human ensembl 74_37 -1 known missense c.133 p.I45V 1.000 NULL pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_GAS2_dom,superfamily_GAS2_dom,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 61 0 0.00 53 4 7.02 DSTYK 0 genome.wustl.edu 37 1 205138757 205138757 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 205138757 205138757 C A SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known silent c.858 p.S286 0.011 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 DSTYK HGNC ENSG00000133059 tier1 - - 43 0 0.00 63 4 5.97 DSTYK 0 genome.wustl.edu 37 1 205138757 205138757 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 205138757 205138757 C A SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known silent c.858 p.S286 0.011 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 DSTYK HGNC ENSG00000133059 tier1 - - 72 0 0.00 63 4 5.97 DUOX2 0 genome.wustl.edu 37 15 45396414 45396414 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 45396414 45396414 G T SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.2484 p.F828L 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 111 0 0.00 75 4 5.06 DUSP19 0 genome.wustl.edu 37 2 183960176 183960176 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 183960176 183960176 T C SNP DUSP19 ENST00000354221 human ensembl 74_37 +1 known silent c.444 p.V148 0.994 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP - no_errors DUSP19 HGNC ENSG00000162999 55 0 0.00 50 4 7.41 DYNC2H1 0 genome.wustl.edu 37 11 103041643 103041643 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 103041643 103041643 T C SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.5180 p.I1727T 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 58 0 0.00 44 9 16.98 DYNC2H1 0 genome.wustl.edu 37 11 103041643 103041643 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 103041643 103041643 T C SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.5180 p.I1727T 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 97 0 0.00 44 9 16.98 DYNC2H1 0 genome.wustl.edu 37 11 103044834 103044834 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 103044834 103044834 A C SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.5609 p.K1870T 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,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 105 0 0.00 75 20 21.05 DYNC2H1 0 genome.wustl.edu 37 11 103044834 103044834 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 103044834 103044834 A C SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.5609 p.K1870T 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,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 88 0 0.00 75 20 21.05 DYNC2H1 0 genome.wustl.edu 37 11 103092848 103092848 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 103092848 103092848 T G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.9197 p.L3066R 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 163 0 0.00 83 29 25.89 DYNC2H1 0 genome.wustl.edu 37 11 103092848 103092848 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 103092848 103092848 T G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.9197 p.L3066R 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 96 0 0.00 83 29 25.89 ECE2 0 genome.wustl.edu 37 3 183976133 183976133 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 183976133 183976133 C A SNP ECE2 ENST00000324557 human ensembl 74_37 +1 known missense c.538 p.H180N 1.000 NULL pfam_Methyltransf_11,pfam_Methyltransf_12 - no_errors ECE2 HGNC ENSG00000145194 95 0 0.00 53 3 5.36 EDNRA 0 genome.wustl.edu 37 4 148406992 148406992 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 148406992 148406992 A G SNP EDNRA ENST00000324300 human ensembl 74_37 +1 known silent c.159 p.Q53 0.299 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn - no_errors EDNRA HGNC ENSG00000151617 tier1 - - 113 0 0.00 37 15 28.85 EDNRA 0 genome.wustl.edu 37 4 148406992 148406992 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 148406992 148406992 A G SNP EDNRA ENST00000324300 human ensembl 74_37 +1 known silent c.159 p.Q53 0.299 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn - no_errors EDNRA HGNC ENSG00000151617 tier1 - - 68 0 0.00 37 15 28.85 EDNRA 0 genome.wustl.edu 37 4 148464965 148464965 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 148464965 148464965 G T SNP EDNRA ENST00000503721 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EDNRA HGNC ENSG00000151617 tier1 - - 53 0 0.00 43 13 23.21 EDNRA 0 genome.wustl.edu 37 4 148464965 148464965 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 148464965 148464965 G T SNP EDNRA ENST00000503721 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EDNRA HGNC ENSG00000151617 tier1 - - 78 0 0.00 43 13 23.21 EFR3B 0 genome.wustl.edu 37 2 25367891 25367891 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 25367891 25367891 G C SNP EFR3B ENST00000403714 human ensembl 74_37 +1 known missense c.2113 p.E705Q 1.000 NULL superfamily_ARM-type_fold - no_errors EFR3B HGNC ENSG00000084710 tier1 - - 55 0 0.00 59 8 11.94 EFR3B 0 genome.wustl.edu 37 2 25367891 25367891 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 25367891 25367891 G C SNP EFR3B ENST00000403714 human ensembl 74_37 +1 known missense c.2113 p.E705Q 1.000 NULL superfamily_ARM-type_fold - no_errors EFR3B HGNC ENSG00000084710 tier1 - - 92 0 0.00 59 8 11.94 EFR3B 0 genome.wustl.edu 37 2 25377167 25377167 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 25377167 25377167 C T SNP EFR3B ENST00000403714 human ensembl 74_37 +1 known silent c.2412 p.I804 1.000 NULL superfamily_ARM-type_fold - no_errors EFR3B HGNC ENSG00000084710 tier1 - - 105 0 0.00 53 11 17.19 EFR3B 0 genome.wustl.edu 37 2 25377167 25377167 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 25377167 25377167 C T SNP EFR3B ENST00000403714 human ensembl 74_37 +1 known silent c.2412 p.I804 1.000 NULL superfamily_ARM-type_fold - no_errors EFR3B HGNC ENSG00000084710 tier1 - - 63 0 0.00 53 11 17.19 EHD4 0 genome.wustl.edu 37 15 42264525 42264525 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 42264525 42264525 G A SNP EHD4 ENST00000220325 human ensembl 74_37 -1 known silent c.168 p.A56 0.993 superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD4 HGNC ENSG00000103966 tier1 - - 109 0 0.00 54 8 12.90 EHD4 0 genome.wustl.edu 37 15 42264525 42264525 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 42264525 42264525 G A SNP EHD4 ENST00000220325 human ensembl 74_37 -1 known silent c.168 p.A56 0.993 superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD4 HGNC ENSG00000103966 tier1 - - 117 0 0.00 54 8 12.90 EIF3B 0 genome.wustl.edu 37 7 2418336 2418336 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 2418336 2418336 G T SNP EIF3B ENST00000360876 human ensembl 74_37 +1 known missense c.2167 p.D723Y 1.000 pirsf_EIF3B pfam_TIF_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_EIF3B,pfscan_RRM_dom - no_errors EIF3B HGNC ENSG00000106263 69 0 0.00 61 4 6.15 EIF6 0 genome.wustl.edu 37 20 33867427 33867427 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 33867427 33867427 G T SNP EIF6 ENST00000374436 human ensembl 74_37 -1 known missense c.670 p.L224M 1.000 pirsf_eIF6,tigrfam_eIF6 pfam_eIF6,smart_eIF6,pirsf_eIF6,tigrfam_eIF6 - no_errors EIF6 HGNC ENSG00000242372 tier1 - - 57 0 0.00 51 4 7.14 EIF6 0 genome.wustl.edu 37 20 33867427 33867427 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 33867427 33867427 G T SNP EIF6 ENST00000374436 human ensembl 74_37 -1 known missense c.670 p.L224M 1.000 pirsf_eIF6,tigrfam_eIF6 pfam_eIF6,smart_eIF6,pirsf_eIF6,tigrfam_eIF6 - no_errors EIF6 HGNC ENSG00000242372 tier1 - - 59 0 0.00 51 4 7.14 ELK1 0 genome.wustl.edu 37 X 47498581 47498581 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 47498581 47498581 G A SNP ELK1 ENST00000247161 human ensembl 74_37 -1 known missense c.367 p.P123S 0.014 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK1 HGNC ENSG00000126767 tier1 - - 56 0 0.00 54 7 11.48 ELK1 0 genome.wustl.edu 37 X 47498581 47498581 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 47498581 47498581 G A SNP ELK1 ENST00000247161 human ensembl 74_37 -1 known missense c.367 p.P123S 0.014 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK1 HGNC ENSG00000126767 tier1 - - 74 0 0.00 54 7 11.48 ELMSAN1 0 genome.wustl.edu 37 14 74206049 74206049 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 74206049 74206049 G A SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known silent c.663 p.F221 0.995 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 tier1 - - 139 0 0.00 113 14 11.02 ELMSAN1 0 genome.wustl.edu 37 14 74206049 74206049 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 74206049 74206049 G A SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known silent c.663 p.F221 0.995 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 tier1 - - 154 0 0.00 113 14 11.02 EMC9 0 genome.wustl.edu 37 14 24610321 24610321 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 24610321 24610321 T G SNP EMC9 ENST00000216799 human ensembl 74_37 -1 known missense c.193 p.N65H 1.000 pfam_UPF0172 pfam_UPF0172 - no_errors EMC9 HGNC ENSG00000100908 tier1 - - 76 0 0.00 63 6 8.70 EMC9 0 genome.wustl.edu 37 14 24610321 24610321 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 24610321 24610321 T G SNP EMC9 ENST00000216799 human ensembl 74_37 -1 known missense c.193 p.N65H 1.000 pfam_UPF0172 pfam_UPF0172 - no_errors EMC9 HGNC ENSG00000100908 tier1 - - 83 0 0.00 63 6 8.70 EMR3 0 genome.wustl.edu 37 19 14752277 14752277 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 14752277 14752277 A T SNP EMR3 ENST00000253673 human ensembl 74_37 -1 known missense c.1202 p.L401Q 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97 - no_errors EMR3 HGNC ENSG00000131355 tier1 - - 82 0 0.00 40 10 20.00 EMR3 0 genome.wustl.edu 37 19 14752277 14752277 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 14752277 14752277 A T SNP EMR3 ENST00000253673 human ensembl 74_37 -1 known missense c.1202 p.L401Q 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97 - no_errors EMR3 HGNC ENSG00000131355 tier1 - - 84 0 0.00 40 10 20.00 ENO4 0 genome.wustl.edu 37 10 118628208 118628208 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 118628208 118628208 A T SNP ENO4 ENST00000341276 human ensembl 74_37 +1 known missense c.1047 p.K349N 0.998 NULL pfam_Enolase_C,pfam_Enolase_N - no_errors ENO4 HGNC ENSG00000188316 tier1 - - 107 0 0.00 42 10 19.23 ENO4 0 genome.wustl.edu 37 10 118628208 118628208 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 118628208 118628208 A T SNP ENO4 ENST00000341276 human ensembl 74_37 +1 known missense c.1047 p.K349N 0.998 NULL pfam_Enolase_C,pfam_Enolase_N - no_errors ENO4 HGNC ENSG00000188316 tier1 - - 40 0 0.00 42 10 19.23 ENSG00000213971 0 genome.wustl.edu 37 19 23444889 23444889 + RNA SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 23444889 23444889 G A SNP ENSG00000213971 ENST00000397094 human ensembl 74_37 -1 known rna NULL NULL 0.064 - - - no_errors RP11-15H20.6 Clone_based_vega_gene ENSG00000213971 tier1 - - 46 0 0.00 54 13 19.40 ENSG00000213971 0 genome.wustl.edu 37 19 23444889 23444889 + RNA SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 23444889 23444889 G A SNP ENSG00000213971 ENST00000397094 human ensembl 74_37 -1 known rna NULL NULL 0.064 - - - no_errors RP11-15H20.6 Clone_based_vega_gene ENSG00000213971 tier1 - - 75 0 0.00 54 13 19.40 ENSG00000222482 0 genome.wustl.edu 37 7 99817694 99817694 + RNA SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 99817694 99817694 T C SNP ENSG00000222482 ENST00000410550 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AC005071.1 Clone_based_ensembl_gene ENSG00000222482 tier1 - - 73 0 0.00 189 16 7.58 ENSG00000222482 0 genome.wustl.edu 37 7 99817694 99817694 + RNA SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 99817694 99817694 T C SNP ENSG00000222482 ENST00000410550 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AC005071.1 Clone_based_ensembl_gene ENSG00000222482 tier1 - - 92 0 0.00 189 16 7.58 ENSG00000223579 0 genome.wustl.edu 37 22 20640900 20640900 + RNA SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 20640900 20640900 G A SNP ENSG00000223579 ENST00000428139 human ensembl 74_37 -1 known rna NULL NULL 0.030 - - - no_errors AC011718.2 Clone_based_vega_gene ENSG00000223579 tier1 - - 571 0 0.00 351 33 8.59 ENSG00000224631 0 genome.wustl.edu 37 16 61089349 61089349 + RNA SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 61089349 61089349 T G SNP ENSG00000224631 ENST00000591758 human ensembl 74_37 -1 known rna NULL NULL 0.825 - - - no_errors RP11-51O6.1 Clone_based_vega_gene ENSG00000224631 tier1 - - 17 0 0.00 15 8 34.78 ENSG00000224631 0 genome.wustl.edu 37 16 61089349 61089349 + RNA SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 61089349 61089349 T G SNP ENSG00000224631 ENST00000591758 human ensembl 74_37 -1 known rna NULL NULL 0.825 - - - no_errors RP11-51O6.1 Clone_based_vega_gene ENSG00000224631 tier1 - - 35 0 0.00 15 8 34.78 ENSG00000226917 0 genome.wustl.edu 37 6 41487171 41487171 + RNA SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 41487171 41487171 C G SNP ENSG00000226917 ENST00000416951 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-328M4.3 Clone_based_vega_gene ENSG00000226917 tier1 - - 43 0 0.00 27 4 12.90 ENSG00000226917 0 genome.wustl.edu 37 6 41487171 41487171 + RNA SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 41487171 41487171 C G SNP ENSG00000226917 ENST00000416951 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-328M4.3 Clone_based_vega_gene ENSG00000226917 tier1 - - 63 0 0.00 27 4 12.90 ENSG00000231817 0 genome.wustl.edu 37 13 47040009 47040009 + RNA SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 13 47040009 47040009 A C SNP ENSG00000231817 ENST00000594428 human ensembl 74_37 -1 known rna NULL NULL 0.233 - - - no_errors RP11-189B4.6 Clone_based_vega_gene ENSG00000231817 tier1 - - 50 0 0.00 32 9 21.95 ENSG00000231817 0 genome.wustl.edu 37 13 47040009 47040009 + RNA SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 13 47040009 47040009 A C SNP ENSG00000231817 ENST00000594428 human ensembl 74_37 -1 known rna NULL NULL 0.233 - - - no_errors RP11-189B4.6 Clone_based_vega_gene ENSG00000231817 tier1 - - 63 0 0.00 32 9 21.95 ENSG00000233836 0 genome.wustl.edu 37 19 24014655 24014655 + RNA SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 24014655 24014655 C A SNP ENSG00000233836 ENST00000471224 human ensembl 74_37 +1 known rna NULL NULL 0.134 - - - no_errors RP11-255H23.2 Clone_based_vega_gene ENSG00000233836 tier1 - - 38 0 0.00 31 7 17.95 ENSG00000233836 0 genome.wustl.edu 37 19 24014655 24014655 + RNA SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 24014655 24014655 C A SNP ENSG00000233836 ENST00000471224 human ensembl 74_37 +1 known rna NULL NULL 0.134 - - - no_errors RP11-255H23.2 Clone_based_vega_gene ENSG00000233836 tier1 - - 53 0 0.00 31 7 17.95 ENSG00000242048 0 genome.wustl.edu 37 7 151504030 151504031 + RNA INS - - A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 151504030 151504031 - A INS ENSG00000242048 ENST00000462083 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.004 - - - no_errors RP13-452N2.1 Clone_based_vega_gene ENSG00000242048 tier1 55 0 0.00 24 3 11.11 ENSG00000243655 0 genome.wustl.edu 37 17 22024359 22024359 + RNA SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 22024359 22024359 T G SNP ENSG00000243655 ENST00000483901 human ensembl 74_37 -1 known rna NULL NULL 0.297 - - - no_errors RP11-846F4.12 Clone_based_vega_gene ENSG00000243655 tier1 - - 51 0 0.00 42 6 12.50 ENSG00000243655 0 genome.wustl.edu 37 17 22024359 22024359 + RNA SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 22024359 22024359 T G SNP ENSG00000243655 ENST00000483901 human ensembl 74_37 -1 known rna NULL NULL 0.297 - - - no_errors RP11-846F4.12 Clone_based_vega_gene ENSG00000243655 tier1 - - 57 0 0.00 42 6 12.50 ENSG00000244306 0 genome.wustl.edu 37 14 19856879 19856879 + RNA SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 19856879 19856879 T G SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 tier1 - - 172 0 0.00 196 20 9.26 ENSG00000244306 0 genome.wustl.edu 37 14 19856879 19856879 + RNA SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 19856879 19856879 T G SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 tier1 - - 298 0 0.00 196 20 9.26 ENSG00000248801 0 genome.wustl.edu 37 8 69243593 69243593 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 69243593 69243593 G A SNP ENSG00000248801 ENST00000512294 human ensembl 74_37 -1 putative missense c.130 p.L44F 0.000 NULL NULL - no_errors RP11-664D7.4 Clone_based_vega_gene ENSG00000248801 65 0 0.00 51 3 5.56 ENSG00000250685 0 genome.wustl.edu 37 16 84228661 84228661 + RNA SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 84228661 84228661 T A SNP ENSG00000250685 ENST00000536986 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-486L19.2 Clone_based_vega_gene ENSG00000250685 tier1 - - 116 0 0.00 50 9 15.25 ENSG00000250685 0 genome.wustl.edu 37 16 84228661 84228661 + RNA SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 84228661 84228661 T A SNP ENSG00000250685 ENST00000536986 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-486L19.2 Clone_based_vega_gene ENSG00000250685 tier1 - - 143 0 0.00 50 9 15.25 ENSG00000252176 0 genome.wustl.edu 37 8 39418521 39418522 + RNA DEL AC AC - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 39418521 39418522 AC - DEL ENSG00000252176 ENST00000516367 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC123767.1 Clone_based_ensembl_gene ENSG00000252176 tier1 20 0 0.00 8 3 27.27 ENSG00000255390 0 genome.wustl.edu 37 11 6642704 6642704 + RNA SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 6642704 6642704 A T SNP ENSG00000255390 ENST00000526456 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-732A19.5 Clone_based_vega_gene ENSG00000255390 tier1 - - 55 0 0.00 35 6 14.63 ENSG00000255390 0 genome.wustl.edu 37 11 6642704 6642704 + RNA SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 6642704 6642704 A T SNP ENSG00000255390 ENST00000526456 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-732A19.5 Clone_based_vega_gene ENSG00000255390 tier1 - - 62 0 0.00 35 6 14.63 ENSG00000256616 0 genome.wustl.edu 37 18 12076569 12076570 + RNA INS - - G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 12076569 12076570 - G INS ENSG00000256616 ENST00000591780 human ensembl 74_37 -1 known rna NULL NULL 0.996:0.995 - - - no_errors RP11-815J4.6 Clone_based_vega_gene ENSG00000256616 tier1 20 0 0.00 12 3 20.00 ENSG00000257057 0 genome.wustl.edu 37 11 94261248 94261248 + Splice_Site SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 94261248 94261248 A G SNP ENSG00000257057 ENST00000542198 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors RP11-867G2.2 Clone_based_vega_gene ENSG00000257057 tier1 - - 125 0 0.00 86 7 7.53 ENSG00000257057 0 genome.wustl.edu 37 11 94261248 94261248 + Splice_Site SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 94261248 94261248 A G SNP ENSG00000257057 ENST00000542198 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors RP11-867G2.2 Clone_based_vega_gene ENSG00000257057 tier1 - - 171 0 0.00 86 7 7.53 ENSG00000257434 0 genome.wustl.edu 37 12 75435986 75435987 + RNA INS - - T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 75435986 75435987 - T INS ENSG00000257434 ENST00000547040 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.005 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257434 tier1 22 0 0.00 21 4 16.00 ENSG00000260628 0 genome.wustl.edu 37 16 31993268 31993268 + RNA SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 31993268 31993268 G A SNP ENSG00000260628 ENST00000568570 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-1166P10.1 Clone_based_vega_gene ENSG00000260628 tier1 - - 105 0 0.00 60 20 25.00 ENSG00000260628 0 genome.wustl.edu 37 16 31993268 31993268 + RNA SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 31993268 31993268 G A SNP ENSG00000260628 ENST00000568570 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-1166P10.1 Clone_based_vega_gene ENSG00000260628 tier1 - - 109 0 0.00 60 20 25.00 ENSG00000263369 0 genome.wustl.edu 37 17 30434424 30434424 + RNA SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 30434424 30434424 T A SNP ENSG00000263369 ENST00000580412 human ensembl 74_37 -1 known rna NULL NULL 0.920 - - - no_errors RP11-640N20.9 Clone_based_vega_gene ENSG00000263369 tier1 - - 129 0 0.00 131 7 5.07 ENSG00000263369 0 genome.wustl.edu 37 17 30434424 30434424 + RNA SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 30434424 30434424 T A SNP ENSG00000263369 ENST00000580412 human ensembl 74_37 -1 known rna NULL NULL 0.920 - - - no_errors RP11-640N20.9 Clone_based_vega_gene ENSG00000263369 tier1 - - 158 0 0.00 131 7 5.07 ENSG00000264057 0 genome.wustl.edu 37 17 62923869 62923869 + RNA SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 62923869 62923869 C A SNP ENSG00000264057 ENST00000585187 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-583F2.1 Clone_based_vega_gene ENSG00000264057 tier1 - - 139 0 0.00 112 15 11.81 ENSG00000264057 0 genome.wustl.edu 37 17 62923869 62923869 + RNA SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 62923869 62923869 C A SNP ENSG00000264057 ENST00000585187 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-583F2.1 Clone_based_vega_gene ENSG00000264057 tier1 - - 192 0 0.00 112 15 11.81 ENSG00000264222 0 genome.wustl.edu 37 18 14251963 14251963 + Splice_Site SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 14251963 14251963 A C SNP ENSG00000264222 ENST00000580200 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.387 - - - no_errors RP11-757O6.1 Clone_based_vega_gene ENSG00000264222 tier1 - - 13 0 0.00 12 7 36.84 ENSG00000264222 0 genome.wustl.edu 37 18 14251963 14251963 + Splice_Site SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 14251963 14251963 A C SNP ENSG00000264222 ENST00000580200 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.387 - - - no_errors RP11-757O6.1 Clone_based_vega_gene ENSG00000264222 tier1 - - 16 0 0.00 12 7 36.84 EPB41L3 0 genome.wustl.edu 37 18 5630574 5630574 + RNA SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 5630574 5630574 C T SNP EPB41L3 ENST00000578431 human ensembl 74_37 -1 known rna NULL NULL 0.240 - - - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 49 0 0.00 30 13 30.23 EPB41L3 0 genome.wustl.edu 37 18 5630574 5630574 + RNA SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 5630574 5630574 C T SNP EPB41L3 ENST00000578431 human ensembl 74_37 -1 known rna NULL NULL 0.240 - - - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 56 0 0.00 30 13 30.23 EPHB1 0 genome.wustl.edu 37 3 134911630 134911630 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 134911630 134911630 T G SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.2095 p.F699V 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 68 0 0.00 66 6 8.33 EPHB1 0 genome.wustl.edu 37 3 134911630 134911630 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 134911630 134911630 T G SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.2095 p.F699V 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 81 0 0.00 66 6 8.33 EPHB1 0 genome.wustl.edu 37 3 134960052 134960052 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 134960052 134960052 A G SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known silent c.2409 p.S803 0.413 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 83 0 0.00 65 5 7.14 EPHB1 0 genome.wustl.edu 37 3 134960052 134960052 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 134960052 134960052 A G SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known silent c.2409 p.S803 0.413 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 88 0 0.00 65 5 7.14 EPPK1 0 genome.wustl.edu 37 8 144942164 144942164 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 144942164 144942164 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.5258 p.G1753D 1.000 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 tier1 - - 119 0 0.00 93 11 10.58 EPPK1 0 genome.wustl.edu 37 8 144942164 144942164 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 144942164 144942164 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.5258 p.G1753D 1.000 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 tier1 - - 123 0 0.00 93 11 10.58 ERBB4 0 genome.wustl.edu 37 2 212566835 212566835 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 212566835 212566835 G T SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.1346 p.S449Y 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 tier1 - - 45 0 0.00 40 10 20.00 ERBB4 0 genome.wustl.edu 37 2 212566835 212566835 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 212566835 212566835 G T SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.1346 p.S449Y 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 tier1 - - 87 0 0.00 40 10 20.00 ERMARD 0 genome.wustl.edu 37 6 170176094 170176094 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 170176094 170176094 G A SNP ERMARD ENST00000366773 human ensembl 74_37 +1 known missense c.1453 p.E485K 0.280 NULL NULL - no_errors ERMARD HGNC ENSG00000130023 tier1 - - 30 0 0.00 12 9 42.86 ERMARD 0 genome.wustl.edu 37 6 170176094 170176094 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 170176094 170176094 G A SNP ERMARD ENST00000366773 human ensembl 74_37 +1 known missense c.1453 p.E485K 0.280 NULL NULL - no_errors ERMARD HGNC ENSG00000130023 tier1 - - 43 0 0.00 12 9 42.86 ERV3-1 0 genome.wustl.edu 37 7 64452676 64452676 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 64452676 64452676 A C SNP ERV3-1 ENST00000394323 human ensembl 74_37 -1 known silent c.729 p.T243 0.633 NULL NULL - no_errors ERV3-1 HGNC ENSG00000213462 tier1 - - 35 0 0.00 20 9 31.03 ERV3-1 0 genome.wustl.edu 37 7 64452676 64452676 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 64452676 64452676 A C SNP ERV3-1 ENST00000394323 human ensembl 74_37 -1 known silent c.729 p.T243 0.633 NULL NULL - no_errors ERV3-1 HGNC ENSG00000213462 tier1 - - 36 0 0.00 20 9 31.03 EVA1A 0 genome.wustl.edu 37 2 75745265 75745265 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 75745265 75745265 A G SNP EVA1A ENST00000233712 human ensembl 74_37 -1 known missense c.2 p.M1T 0.041 NULL NULL - no_errors EVA1A HGNC ENSG00000115363 tier1 - - 64 0 0.00 26 26 50.00 EVA1A 0 genome.wustl.edu 37 2 75745265 75745265 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 75745265 75745265 A G SNP EVA1A ENST00000233712 human ensembl 74_37 -1 known missense c.2 p.M1T 0.041 NULL NULL - no_errors EVA1A HGNC ENSG00000115363 tier1 - - 71 0 0.00 26 26 50.00 EYA1 0 genome.wustl.edu 37 8 72234487 72234487 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 72234487 72234487 A G SNP EYA1 ENST00000340726 human ensembl 74_37 -1 known silent c.219 p.S73 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 tier1 - - 59 0 0.00 18 34 65.38 FA2H 0 genome.wustl.edu 37 16 74753017 74753017 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 74753017 74753017 A G SNP FA2H ENST00000219368 human ensembl 74_37 -1 known missense c.655 p.F219L 1.000 pfam_Fatty_acid_hydroxylase,pirsf_Ino-phos-ceramide-B_Hydrxlase pfam_Fatty_acid_hydroxylase,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Ino-phos-ceramide-B_Hydrxlase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd - no_errors FA2H HGNC ENSG00000103089 52 0 0.00 21 2 8.70 FAF1 0 genome.wustl.edu 37 1 51001111 51001111 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 51001111 51001111 T A SNP FAF1 ENST00000371778 human ensembl 74_37 -1 known missense c.1424 p.E475V 1.000 smart_UAS pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 tier1 - - 110 0 0.00 41 23 35.94 FAF1 0 genome.wustl.edu 37 1 51001111 51001111 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 51001111 51001111 T A SNP FAF1 ENST00000371778 human ensembl 74_37 -1 known missense c.1424 p.E475V 1.000 smart_UAS pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 tier1 - - 66 0 0.00 41 23 35.94 FAM131A 0 genome.wustl.edu 37 3 184056194 184056194 + Nonsense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 184056194 184056194 G A SNP FAM131A ENST00000383847 human ensembl 74_37 +1 known nonsense c.108 p.W36* 1.000 NULL NULL - no_errors FAM131A HGNC ENSG00000175182 tier1 - - 65 0 0.00 51 4 7.14 FAM131A 0 genome.wustl.edu 37 3 184056194 184056194 + Nonsense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 184056194 184056194 G A SNP FAM131A ENST00000383847 human ensembl 74_37 +1 known nonsense c.108 p.W36* 1.000 NULL NULL - no_errors FAM131A HGNC ENSG00000175182 tier1 - - 82 0 0.00 51 4 7.14 FAM160A2 0 genome.wustl.edu 37 11 6243800 6243800 + Nonsense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 6243800 6243800 C A SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known nonsense c.1063 p.E355* 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 tier1 - - 77 0 0.00 47 13 21.67 FAM160A2 0 genome.wustl.edu 37 11 6243800 6243800 + Nonsense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 6243800 6243800 C A SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known nonsense c.1063 p.E355* 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 tier1 - - 79 0 0.00 47 13 21.67 FAM189A1 0 genome.wustl.edu 37 15 29415829 29415829 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 29415829 29415829 A G SNP FAM189A1 ENST00000261275 human ensembl 74_37 -1 known missense c.1333 p.C445R 0.978 NULL pfam_CD20-like - no_errors FAM189A1 HGNC ENSG00000104059 tier1 - - 69 0 0.00 33 9 21.43 FAM189A1 0 genome.wustl.edu 37 15 29415829 29415829 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 29415829 29415829 A G SNP FAM189A1 ENST00000261275 human ensembl 74_37 -1 known missense c.1333 p.C445R 0.978 NULL pfam_CD20-like - no_errors FAM189A1 HGNC ENSG00000104059 tier1 - - 83 0 0.00 33 9 21.43 FAM212B 0 genome.wustl.edu 37 1 112281959 112281959 + RNA SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 112281959 112281959 C A SNP FAM212B ENST00000527570 human ensembl 74_37 -1 putative rna NULL NULL 0.074 - - - no_errors FAM212B HGNC ENSG00000197852 tier1 - - 22 0 0.00 10 4 28.57 FAM212B 0 genome.wustl.edu 37 1 112281959 112281959 + RNA SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 112281959 112281959 C A SNP FAM212B ENST00000527570 human ensembl 74_37 -1 putative rna NULL NULL 0.074 - - - no_errors FAM212B HGNC ENSG00000197852 tier1 - - 23 0 0.00 10 4 28.57 FAM230A 0 genome.wustl.edu 37 22 20710061 20710061 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 20710061 20710061 G C SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known missense c.1793 p.R598T 0.106 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 113 0 0.00 85 14 14.14 FAM230A 0 genome.wustl.edu 37 22 20710061 20710061 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 20710061 20710061 G C SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known missense c.1793 p.R598T 0.106 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 123 0 0.00 85 14 14.14 FAM65B 0 genome.wustl.edu 37 6 24839446 24839446 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 24839446 24839446 T C SNP FAM65B ENST00000259698 human ensembl 74_37 -1 known missense c.1975 p.S659G 1.000 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 tier1 - - 55 0 0.00 23 13 36.11 FAM65B 0 genome.wustl.edu 37 6 24839446 24839446 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 24839446 24839446 T C SNP FAM65B ENST00000259698 human ensembl 74_37 -1 known missense c.1975 p.S659G 1.000 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 tier1 - - 81 0 0.00 23 13 36.11 FAM65C 0 genome.wustl.edu 37 20 49203726 49203727 + RNA INS - - A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 49203726 49203727 - A INS FAM65C ENST00000462842 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors FAM65C HGNC ENSG00000042062 tier1 24 0 0.00 24 2 7.69 FAM65C 0 genome.wustl.edu 37 20 49203726 49203727 + RNA INS - - A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 49203726 49203727 - A INS FAM65C ENST00000462842 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors FAM65C HGNC ENSG00000042062 tier1 33 0 0.00 24 2 7.69 FAM71F2 0 genome.wustl.edu 37 7 128320107 128320107 + Frame_Shift_Del DEL C C - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 128320107 128320107 C - DEL FAM71F2 ENST00000480462 human ensembl 74_37 +1 known frame_shift_del c.638 p.Q215fs 0.232 NULL pfam_DUF3699 - no_errors FAM71F2 HGNC ENSG00000205085 tier1 61 0 0.00 37 2 5.13 FAM71F2 0 genome.wustl.edu 37 7 128320107 128320107 + Frame_Shift_Del DEL C C - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 128320107 128320107 C - DEL FAM71F2 ENST00000480462 human ensembl 74_37 +1 known frame_shift_del c.638 p.Q215fs 0.232 NULL pfam_DUF3699 - no_errors FAM71F2 HGNC ENSG00000205085 tier1 71 0 0.00 37 2 5.13 FAM81A 0 genome.wustl.edu 37 15 59799504 59799504 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 59799504 59799504 T G SNP FAM81A ENST00000288228 human ensembl 74_37 +1 known missense c.506 p.L169R 0.815 NULL superfamily_Ferritin-like_SF - no_errors FAM81A HGNC ENSG00000157470 tier1 - - 46 0 0.00 35 4 10.26 FAM81A 0 genome.wustl.edu 37 15 59799504 59799504 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 59799504 59799504 T G SNP FAM81A ENST00000288228 human ensembl 74_37 +1 known missense c.506 p.L169R 0.815 NULL superfamily_Ferritin-like_SF - no_errors FAM81A HGNC ENSG00000157470 tier1 - - 76 0 0.00 35 4 10.26 FANCM 0 genome.wustl.edu 37 14 45628400 45628400 + Nonsense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 45628400 45628400 C T SNP FANCM ENST00000267430 human ensembl 74_37 +1 known nonsense c.1498 p.Q500* 0.999 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C 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 - - 111 0 0.00 78 22 22.00 FANCM 0 genome.wustl.edu 37 14 45628400 45628400 + Nonsense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 45628400 45628400 C T SNP FANCM ENST00000267430 human ensembl 74_37 +1 known nonsense c.1498 p.Q500* 0.999 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C 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 - - 150 0 0.00 78 22 22.00 FARP2 0 genome.wustl.edu 37 2 242343251 242343251 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 242343251 242343251 C T SNP FARP2 ENST00000264042 human ensembl 74_37 +1 known silent c.192 p.C64 0.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP2 HGNC ENSG00000006607 116 0 0.00 55 3 5.17 FAT1 0 genome.wustl.edu 37 4 187541074 187541074 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 187541074 187541074 G C SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.6666 p.D2222E 0.858 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 - - 39 0 0.00 30 7 18.92 FAT1 0 genome.wustl.edu 37 4 187541074 187541074 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 187541074 187541074 G C SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.6666 p.D2222E 0.858 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 - - 46 0 0.00 30 7 18.92 FAT2 0 genome.wustl.edu 37 5 150922227 150922227 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 150922227 150922227 C A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.8461 p.A2821S 0.988 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 23 0 0.00 12 3 20.00 FAT2 0 genome.wustl.edu 37 5 150922227 150922227 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 150922227 150922227 C A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.8461 p.A2821S 0.988 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 24 0 0.00 12 3 20.00 FAT3 0 genome.wustl.edu 37 11 92570848 92570848 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 92570848 92570848 T G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.10244 p.L3415R 0.787 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 63 0 0.00 44 7 13.73 FAT3 0 genome.wustl.edu 37 11 92570848 92570848 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 92570848 92570848 T G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.10244 p.L3415R 0.787 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 72 0 0.00 44 7 13.73 FBRSL1 0 genome.wustl.edu 37 12 133151044 133151044 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 133151044 133151044 C T SNP FBRSL1 ENST00000434748 human ensembl 74_37 +1 known missense c.1724 p.A575V 0.000 NULL prints_AUTS2 - no_errors FBRSL1 HGNC ENSG00000112787 tier1 - - 51 0 0.00 36 7 16.28 FBRSL1 0 genome.wustl.edu 37 12 133151044 133151044 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 133151044 133151044 C T SNP FBRSL1 ENST00000434748 human ensembl 74_37 +1 known missense c.1724 p.A575V 0.000 NULL prints_AUTS2 - no_errors FBRSL1 HGNC ENSG00000112787 tier1 - - 66 0 0.00 36 7 16.28 FBXL17 0 genome.wustl.edu 37 5 107703648 107703648 + Frame_Shift_Del DEL A A - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 107703648 107703648 A - DEL FBXL17 ENST00000542267 human ensembl 74_37 -1 known frame_shift_del c.1000 p.S334fs 1.000 pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL17 HGNC ENSG00000145743 tier1 75 0 0.00 33 6 15.38 FBXO15 0 genome.wustl.edu 37 18 71740727 71740727 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 71740727 71740727 T A SNP FBXO15 ENST00000419743 human ensembl 74_37 -1 known missense c.1502 p.K501I 0.873 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO15 HGNC ENSG00000141665 tier1 - - 63 0 0.00 20 24 54.55 FBXO15 0 genome.wustl.edu 37 18 71740727 71740727 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 71740727 71740727 T A SNP FBXO15 ENST00000419743 human ensembl 74_37 -1 known missense c.1502 p.K501I 0.873 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO15 HGNC ENSG00000141665 tier1 - - 82 0 0.00 20 24 54.55 FCGBP 0 genome.wustl.edu 37 19 40357618 40357618 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 40357618 40357618 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.15695 p.R5232H 0.000 smart_VWC_out,smart_Fol_N,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 47 0 0.00 30 3 9.09 FEM1B 0 genome.wustl.edu 37 15 68582040 68582040 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 68582040 68582040 A G SNP FEM1B ENST00000306917 human ensembl 74_37 +1 known missense c.344 p.N115S 1.000 pfam_Ankyrin_rpt,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 FEM1B HGNC ENSG00000169018 tier1 - - 51 0 0.00 35 15 30.00 FEM1B 0 genome.wustl.edu 37 15 68582040 68582040 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 68582040 68582040 A G SNP FEM1B ENST00000306917 human ensembl 74_37 +1 known missense c.344 p.N115S 1.000 pfam_Ankyrin_rpt,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 FEM1B HGNC ENSG00000169018 tier1 - - 94 0 0.00 35 15 30.00 FHIT 0 genome.wustl.edu 37 3 59999794 59999794 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 59999794 59999794 T C SNP FHIT ENST00000341848 human ensembl 74_37 -1 known missense c.188 p.Q63R 1.000 pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like - no_errors FHIT HGNC ENSG00000189283 55 0 0.00 24 3 11.11 FHL5 0 genome.wustl.edu 37 6 97058456 97058456 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 97058456 97058456 T C SNP FHL5 ENST00000326771 human ensembl 74_37 +1 known silent c.513 p.T171 0.866 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL5 HGNC ENSG00000112214 95 0 0.00 51 3 5.56 FIGN 0 genome.wustl.edu 37 2 164467610 164467610 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 164467610 164467610 A C SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.732 p.S244R 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 tier1 - - 48 0 0.00 32 18 35.29 FIGN 0 genome.wustl.edu 37 2 164467610 164467610 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 164467610 164467610 A C SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.732 p.S244R 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 tier1 - - 69 0 0.00 32 18 35.29 FLG 0 genome.wustl.edu 37 1 152283719 152283719 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 152283719 152283719 T G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.3643 p.S1215R 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 194 0 0.00 115 22 16.06 FLG 0 genome.wustl.edu 37 1 152286751 152286751 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 152286751 152286751 A C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.611 p.L204R 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 28 0 0.00 35 8 18.18 FLG 0 genome.wustl.edu 37 1 152286751 152286751 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 152286751 152286751 A C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.611 p.L204R 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 56 0 0.00 35 8 18.18 FLG2 0 genome.wustl.edu 37 1 152329678 152329678 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 152329678 152329678 T C SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.584 p.D195G 0.022 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 41 0 0.00 44 6 12.00 FLG2 0 genome.wustl.edu 37 1 152329678 152329678 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 152329678 152329678 T C SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.584 p.D195G 0.022 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 43 0 0.00 44 6 12.00 FLJ33360 0 genome.wustl.edu 37 5 6312630 6312630 + RNA SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 6312630 6312630 C T SNP FLJ33360 ENST00000507444 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2324F15.2 Clone_based_vega_gene ENSG00000250490 tier1 - - 35 0 0.00 25 5 16.67 FLJ33360 0 genome.wustl.edu 37 5 6312630 6312630 + RNA SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 6312630 6312630 C T SNP FLJ33360 ENST00000507444 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2324F15.2 Clone_based_vega_gene ENSG00000250490 tier1 - - 43 0 0.00 25 5 16.67 FMO2 0 genome.wustl.edu 37 1 171178126 171178126 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 171178126 171178126 G T SNP FMO2 ENST00000529935 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FMO2 HGNC ENSG00000094963 tier1 - - 78 0 0.00 38 4 9.52 FMO2 0 genome.wustl.edu 37 1 171178126 171178126 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 171178126 171178126 G T SNP FMO2 ENST00000529935 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FMO2 HGNC ENSG00000094963 tier1 - - 80 0 0.00 38 4 9.52 FNDC1 0 genome.wustl.edu 37 6 159660639 159660639 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 159660639 159660639 A C SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.4271 p.K1424T 0.987 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 tier1 - - 131 0 0.00 108 10 8.47 FNDC1 0 genome.wustl.edu 37 6 159660639 159660639 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 159660639 159660639 A C SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.4271 p.K1424T 0.987 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 tier1 - - 170 0 0.00 108 10 8.47 FOLH1 0 genome.wustl.edu 37 11 49227684 49227684 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 49227684 49227684 A G SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known silent c.159 p.T53 0.007 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 tier1 - - 119 0 0.00 71 28 28.28 FOLH1 0 genome.wustl.edu 37 11 49227684 49227684 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 49227684 49227684 A G SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known silent c.159 p.T53 0.007 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 tier1 - - 69 0 0.00 71 28 28.28 FOXF2 0 genome.wustl.edu 37 6 1390986 1390986 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 1390986 1390986 C T SNP FOXF2 ENST00000259806 human ensembl 74_37 +1 known silent c.804 p.H268 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF2 HGNC ENSG00000137273 tier1 - - 10 0 0.00 2 4 66.67 FOXG1 0 genome.wustl.edu 37 14 29237018 29237018 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 29237018 29237018 A C SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.533 p.K178T 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 tier1 - - 45 0 0.00 16 9 34.62 FOXG1 0 genome.wustl.edu 37 14 29237018 29237018 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 29237018 29237018 A C SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.533 p.K178T 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 tier1 - - 54 0 0.00 16 9 34.62 FPGT 0 genome.wustl.edu 37 1 74671035 74671035 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 74671035 74671035 T G SNP FPGT ENST00000370898 human ensembl 74_37 +1 known missense c.1343 p.I448S 1.000 pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase - no_errors FPGT HGNC ENSG00000254685 tier1 - - 105 0 0.00 75 7 8.54 FPGT 0 genome.wustl.edu 37 1 74671035 74671035 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 74671035 74671035 T G SNP FPGT ENST00000370898 human ensembl 74_37 +1 known missense c.1343 p.I448S 1.000 pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase - no_errors FPGT HGNC ENSG00000254685 tier1 - - 140 0 0.00 75 7 8.54 FSCB 0 genome.wustl.edu 37 14 44974872 44974872 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 44974872 44974872 A C SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.1319 p.L440R 0.000 NULL NULL - no_errors FSCB HGNC ENSG00000189139 tier1 - - 49 0 0.00 25 8 24.24 FSCB 0 genome.wustl.edu 37 14 44974872 44974872 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 44974872 44974872 A C SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.1319 p.L440R 0.000 NULL NULL - no_errors FSCB HGNC ENSG00000189139 tier1 - - 54 0 0.00 25 8 24.24 FSTL5 0 genome.wustl.edu 37 4 162697055 162697055 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 162697055 162697055 A G SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.581 p.L194P 1.000 pfscan_EF_hand_dom pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 tier1 - - 24 0 0.00 13 8 38.10 FSTL5 0 genome.wustl.edu 37 4 162697055 162697055 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 162697055 162697055 A G SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.581 p.L194P 1.000 pfscan_EF_hand_dom pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 tier1 - - 42 0 0.00 13 8 38.10 FZD5 0 genome.wustl.edu 37 2 208632693 208632693 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 208632693 208632693 G A SNP FZD5 ENST00000295417 human ensembl 74_37 -1 known silent c.771 p.F257 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD5 HGNC ENSG00000163251 tier1 - - 52 0 0.00 44 6 12.00 FZD5 0 genome.wustl.edu 37 2 208632693 208632693 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 208632693 208632693 G A SNP FZD5 ENST00000295417 human ensembl 74_37 -1 known silent c.771 p.F257 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD5 HGNC ENSG00000163251 tier1 - - 66 0 0.00 44 6 12.00 G3BP2 0 genome.wustl.edu 37 4 76572306 76572306 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 76572306 76572306 G A SNP G3BP2 ENST00000359707 human ensembl 74_37 -1 known missense c.964 p.R322C 1.000 NULL pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP2 HGNC ENSG00000138757 tier1 - - 15 0 0.00 8 5 38.46 G3BP2 0 genome.wustl.edu 37 4 76572306 76572306 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 76572306 76572306 G A SNP G3BP2 ENST00000359707 human ensembl 74_37 -1 known missense c.964 p.R322C 1.000 NULL pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP2 HGNC ENSG00000138757 tier1 - - 29 0 0.00 8 5 38.46 GABRA1 0 genome.wustl.edu 37 5 161300296 161300296 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 161300296 161300296 C A SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.429 p.N143K 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 tier1 - - 67 0 0.00 57 19 25.00 GABRA1 0 genome.wustl.edu 37 5 161300296 161300296 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 161300296 161300296 C A SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.429 p.N143K 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 tier1 - - 89 0 0.00 57 19 25.00 GABRB3 0 genome.wustl.edu 37 15 26812796 26812796 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 26812796 26812796 A T SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known missense c.767 p.L256Q 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 tier1 - - 42 0 0.00 30 5 14.29 GABRB3 0 genome.wustl.edu 37 15 26812796 26812796 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 26812796 26812796 A T SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known missense c.767 p.L256Q 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 tier1 - - 55 0 0.00 30 5 14.29 GATA1 0 genome.wustl.edu 37 X 48652484 48652484 + Silent SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 48652484 48652484 C G SNP GATA1 ENST00000376670 human ensembl 74_37 +1 known silent c.1155 p.P385 0.001 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA1 HGNC ENSG00000102145 tier1 - - 35 0 0.00 30 5 14.29 GATA1 0 genome.wustl.edu 37 X 48652484 48652484 + Silent SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 48652484 48652484 C G SNP GATA1 ENST00000376670 human ensembl 74_37 +1 known silent c.1155 p.P385 0.001 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA1 HGNC ENSG00000102145 tier1 - - 45 0 0.00 30 5 14.29 GBP7 0 genome.wustl.edu 37 1 89597890 89597890 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 89597890 89597890 T G SNP GBP7 ENST00000294671 human ensembl 74_37 -1 known missense c.1859 p.K620T 0.000 NULL pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP7 HGNC ENSG00000213512 85 0 0.00 62 4 6.06 GCM2 0 genome.wustl.edu 37 6 10874965 10874965 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 10874965 10874965 A T SNP GCM2 ENST00000379491 human ensembl 74_37 -1 known missense c.784 p.S262T 0.970 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 100 0 0.00 71 5 6.58 GDPD1 0 genome.wustl.edu 37 17 57344462 57344462 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 57344462 57344462 T G SNP GDPD1 ENST00000284116 human ensembl 74_37 +1 known missense c.637 p.F213V 1.000 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD1 HGNC ENSG00000153982 tier1 - - 100 0 0.00 70 17 19.54 GDPD1 0 genome.wustl.edu 37 17 57344462 57344462 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 57344462 57344462 T G SNP GDPD1 ENST00000284116 human ensembl 74_37 +1 known missense c.637 p.F213V 1.000 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD1 HGNC ENSG00000153982 tier1 - - 47 0 0.00 70 17 19.54 GFRA3 0 genome.wustl.edu 37 5 137593388 137593388 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 137593388 137593388 G A SNP GFRA3 ENST00000274721 human ensembl 74_37 -1 known missense c.725 p.P242L 0.714 NULL pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 tier1 - - 32 0 0.00 20 9 31.03 GJA5 0 genome.wustl.edu 37 1 147230937 147230937 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 147230937 147230937 T C SNP GJA5 ENST00000271348 human ensembl 74_37 -1 known missense c.410 p.E137G 1.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40 - no_errors GJA5 HGNC ENSG00000143140 40 0 0.00 18 3 14.29 GLMN 0 genome.wustl.edu 37 1 92730170 92730170 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 92730170 92730170 A T SNP GLMN ENST00000370360 human ensembl 74_37 -1 known missense c.1240 p.S414T 1.000 pfam_YAP-bd/Alf4/glomulin pfam_YAP-bd/Alf4/glomulin - no_errors GLMN HGNC ENSG00000174842 tier1 - - 39 0 0.00 48 9 15.79 GLMN 0 genome.wustl.edu 37 1 92730170 92730170 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 92730170 92730170 A T SNP GLMN ENST00000370360 human ensembl 74_37 -1 known missense c.1240 p.S414T 1.000 pfam_YAP-bd/Alf4/glomulin pfam_YAP-bd/Alf4/glomulin - no_errors GLMN HGNC ENSG00000174842 tier1 - - 82 0 0.00 48 9 15.79 GLRB 0 genome.wustl.edu 37 4 158091619 158091619 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 158091619 158091619 T C SNP GLRB ENST00000512619 human ensembl 74_37 +1 putative missense c.158 p.L53P 0.044 NULL NULL - no_errors GLRB HGNC ENSG00000109738 50 0 0.00 42 3 6.52 GMEB1 0 genome.wustl.edu 37 1 29041385 29041386 + RNA INS - - A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 29041385 29041386 - A INS GMEB1 ENST00000480454 human ensembl 74_37 +1 known rna NULL NULL 0.437:0.252 - - - no_errors GMEB1 HGNC ENSG00000162419 tier1 48 0 0.00 55 5 8.33 GNAI3 0 genome.wustl.edu 37 1 110128893 110128893 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 110128893 110128893 G A SNP GNAI3 ENST00000369851 human ensembl 74_37 +1 known missense c.646 p.E216K 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha - no_errors GNAI3 HGNC ENSG00000065135 tier1 - - 45 0 0.00 37 5 11.90 GNAI3 0 genome.wustl.edu 37 1 110128893 110128893 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 110128893 110128893 G A SNP GNAI3 ENST00000369851 human ensembl 74_37 +1 known missense c.646 p.E216K 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha - no_errors GNAI3 HGNC ENSG00000065135 tier1 - - 83 0 0.00 37 5 11.90 GNN 0 genome.wustl.edu 37 12 104283377 104283377 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 104283377 104283377 G T SNP GNN ENST00000548520 human ensembl 74_37 -1 known rna NULL NULL 0.806 - - - no_errors RP11-642P15.1 Clone_based_vega_gene ENSG00000214198 tier1 - - 34 0 0.00 21 4 16.00 GPAA1 0 genome.wustl.edu 37 8 145139755 145139755 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 145139755 145139755 T C SNP GPAA1 ENST00000355091 human ensembl 74_37 +1 known silent c.1141 p.L381 1.000 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC ENSG00000197858 tier1 - - 41 0 0.00 22 15 40.54 GPAA1 0 genome.wustl.edu 37 8 145139755 145139755 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 145139755 145139755 T C SNP GPAA1 ENST00000355091 human ensembl 74_37 +1 known silent c.1141 p.L381 1.000 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC ENSG00000197858 tier1 - - 46 0 0.00 22 15 40.54 GPR34 0 genome.wustl.edu 37 X 41555683 41555683 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 41555683 41555683 G A SNP GPR34 ENST00000378138 human ensembl 74_37 +1 known missense c.797 p.R266H 0.970 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR34 HGNC ENSG00000171659 tier1 - - 25 0 0.00 8 21 72.41 GPR34 0 genome.wustl.edu 37 X 41555683 41555683 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 41555683 41555683 G A SNP GPR34 ENST00000378138 human ensembl 74_37 +1 known missense c.797 p.R266H 0.970 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR34 HGNC ENSG00000171659 tier1 - - 33 0 0.00 8 21 72.41 GPR37 0 genome.wustl.edu 37 7 124404500 124404500 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 124404500 124404500 G A SNP GPR37 ENST00000303921 human ensembl 74_37 -1 known silent c.531 p.S177 0.005 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 121 0 0.00 68 4 5.56 GPR55 0 genome.wustl.edu 37 2 231775283 231775283 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 231775283 231775283 A G SNP GPR55 ENST00000392039 human ensembl 74_37 -1 known missense c.395 p.L132P 0.991 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR55 HGNC ENSG00000135898 tier1 - - 53 0 0.00 32 12 27.27 GPR55 0 genome.wustl.edu 37 2 231775283 231775283 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 231775283 231775283 A G SNP GPR55 ENST00000392039 human ensembl 74_37 -1 known missense c.395 p.L132P 0.991 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR55 HGNC ENSG00000135898 tier1 - - 59 0 0.00 32 12 27.27 GRIA4 0 genome.wustl.edu 37 11 105795332 105795332 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 105795332 105795332 T G SNP GRIA4 ENST00000282499 human ensembl 74_37 +1 known missense c.1684 p.L562V 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 GRIA4 HGNC ENSG00000152578 tier1 - - 32 0 0.00 22 7 24.14 GRIA4 0 genome.wustl.edu 37 11 105795332 105795332 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 105795332 105795332 T G SNP GRIA4 ENST00000282499 human ensembl 74_37 +1 known missense c.1684 p.L562V 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 GRIA4 HGNC ENSG00000152578 tier1 - - 39 0 0.00 22 7 24.14 GRID2 0 genome.wustl.edu 37 4 94343959 94343959 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 94343959 94343959 G A SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.1385 p.G462D 1.000 pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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 GRID2 HGNC ENSG00000152208 tier1 - - 112 0 0.00 63 18 22.22 GRID2 0 genome.wustl.edu 37 4 94343959 94343959 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 94343959 94343959 G A SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.1385 p.G462D 1.000 pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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 GRID2 HGNC ENSG00000152208 tier1 - - 58 0 0.00 63 18 22.22 GRIP2 0 genome.wustl.edu 37 3 14530733 14530733 + RNA DEL T T - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 14530733 14530733 T - DEL GRIP2 ENST00000273083 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GRIP2 HGNC ENSG00000144596 tier1 33 0 0.00 36 10 21.74 GRIP2 0 genome.wustl.edu 37 3 14530733 14530733 + RNA DEL T T - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 14530733 14530733 T - DEL GRIP2 ENST00000273083 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GRIP2 HGNC ENSG00000144596 tier1 68 0 0.00 36 10 21.74 GTF2IRD2P1 0 genome.wustl.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 72663998 72663998 T G SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 tier1 - - 54 0 0.00 42 4 8.70 GTF2IRD2P1 0 genome.wustl.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 72664015 72664016 - G INS GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.912:0.964 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 tier1 17 0 0.00 20 4 16.67 GUCA1C 0 genome.wustl.edu 37 3 108626976 108626976 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 108626976 108626976 A C SNP GUCA1C ENST00000261047 human ensembl 74_37 -1 known missense c.523 p.F175V 0.220 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors GUCA1C HGNC ENSG00000138472 tier1 - - 55 0 0.00 40 27 40.30 GUCA1C 0 genome.wustl.edu 37 3 108626976 108626976 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 108626976 108626976 A C SNP GUCA1C ENST00000261047 human ensembl 74_37 -1 known missense c.523 p.F175V 0.220 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors GUCA1C HGNC ENSG00000138472 tier1 - - 63 0 0.00 40 27 40.30 GUSBP5 0 genome.wustl.edu 37 4 144481247 144481247 + RNA SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 144481247 144481247 A G SNP GUSBP5 ENST00000509369 human ensembl 74_37 +1 known rna NULL NULL 0.027 - - - no_errors GUSBP5 HGNC ENSG00000236296 tier1 - - 52 0 0.00 36 7 16.28 GUSBP5 0 genome.wustl.edu 37 4 144481247 144481247 + RNA SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 144481247 144481247 A G SNP GUSBP5 ENST00000509369 human ensembl 74_37 +1 known rna NULL NULL 0.027 - - - no_errors GUSBP5 HGNC ENSG00000236296 tier1 - - 54 0 0.00 36 7 16.28 HCN1 0 genome.wustl.edu 37 5 45262548 45262548 + Silent SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 45262548 45262548 A T SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known silent c.2148 p.T716 1.000 NULL 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 HCN1 HGNC ENSG00000164588 tier1 - - 70 0 0.00 50 5 9.09 HCN1 0 genome.wustl.edu 37 5 45262548 45262548 + Silent SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 45262548 45262548 A T SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known silent c.2148 p.T716 1.000 NULL 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 HCN1 HGNC ENSG00000164588 tier1 - - 73 0 0.00 50 5 9.09 HDGFRP3 0 genome.wustl.edu 37 15 83826671 83826671 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 83826671 83826671 T G SNP HDGFRP3 ENST00000299633 human ensembl 74_37 -1 known missense c.284 p.K95T 1.000 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFRP3 Uniprot_gn ENSG00000166503 tier1 - - 42 0 0.00 39 8 17.02 HDGFRP3 0 genome.wustl.edu 37 15 83826671 83826671 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 83826671 83826671 T G SNP HDGFRP3 ENST00000299633 human ensembl 74_37 -1 known missense c.284 p.K95T 1.000 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFRP3 Uniprot_gn ENSG00000166503 tier1 - - 48 0 0.00 39 8 17.02 HDLBP 0 genome.wustl.edu 37 2 242186238 242186238 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 242186238 242186238 T A SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.1879 p.I627F 0.998 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 tier1 - - 51 0 0.00 40 14 25.93 HDLBP 0 genome.wustl.edu 37 2 242186238 242186238 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 242186238 242186238 T A SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.1879 p.I627F 0.998 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 tier1 - - 72 0 0.00 40 14 25.93 HEATR5B 0 genome.wustl.edu 37 2 37295884 37295884 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 37295884 37295884 C A SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.1117 p.A373S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 tier1 - - 75 0 0.00 67 18 20.93 HEATR5B 0 genome.wustl.edu 37 2 37295884 37295884 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 37295884 37295884 C A SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.1117 p.A373S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 tier1 - - 95 0 0.00 67 18 20.93 HECTD4 0 genome.wustl.edu 37 12 112672926 112672926 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 112672926 112672926 T C SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.5354 p.K1785R 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 67 0 0.00 64 7 9.86 HECTD4 0 genome.wustl.edu 37 12 112672926 112672926 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 112672926 112672926 T C SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.5354 p.K1785R 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 89 0 0.00 64 7 9.86 HECTD4 0 genome.wustl.edu 37 12 112690287 112690287 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 112690287 112690287 G T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.2977 p.R993S 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 65 0 0.00 41 3 6.82 HERC1 0 genome.wustl.edu 37 15 64005604 64005604 + Nonsense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 64005604 64005604 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known nonsense c.4411 p.Q1471* 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 44 0 0.00 26 6 18.18 HERC1 0 genome.wustl.edu 37 15 64005604 64005604 + Nonsense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 64005604 64005604 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known nonsense c.4411 p.Q1471* 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 54 0 0.00 26 6 18.18 HERC2P4 0 genome.wustl.edu 37 16 32186860 32186860 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 32186860 32186860 G T SNP HERC2P4 ENST00000566591 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P4 HGNC ENSG00000230267 tier1 - - 127 0 0.00 76 18 19.15 HERC2P4 0 genome.wustl.edu 37 16 32186860 32186860 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 32186860 32186860 G T SNP HERC2P4 ENST00000566591 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P4 HGNC ENSG00000230267 tier1 - - 178 0 0.00 76 18 19.15 HFE2 0 genome.wustl.edu 37 1 145415834 145415834 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 145415834 145415834 G A SNP HFE2 ENST00000336751 human ensembl 74_37 +1 known missense c.653 p.R218Q 0.982 pfam_RGM_N pfam_RGM_N,pfam_RGM_C - no_errors HFE2 HGNC ENSG00000168509 tier1 - - 21 0 0.00 15 10 40.00 HFE2 0 genome.wustl.edu 37 1 145415834 145415834 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 145415834 145415834 G A SNP HFE2 ENST00000336751 human ensembl 74_37 +1 known missense c.653 p.R218Q 0.982 pfam_RGM_N pfam_RGM_N,pfam_RGM_C - no_errors HFE2 HGNC ENSG00000168509 tier1 - - 22 0 0.00 15 10 40.00 HFM1 0 genome.wustl.edu 37 1 91816414 91816414 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 91816414 91816414 A C SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known missense c.2087 p.L696R 1.000 pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 tier1 - - 29 0 0.00 21 5 19.23 HFM1 0 genome.wustl.edu 37 1 91816414 91816414 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 91816414 91816414 A C SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known missense c.2087 p.L696R 1.000 pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 tier1 - - 54 0 0.00 21 5 19.23 HIC2 0 genome.wustl.edu 37 22 21800741 21800741 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 21800741 21800741 G T SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known silent c.1557 p.T519 0.281 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 tier1 - - 105 0 0.00 45 12 21.05 HIC2 0 genome.wustl.edu 37 22 21800741 21800741 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 21800741 21800741 G T SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known silent c.1557 p.T519 0.281 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 tier1 - - 123 0 0.00 45 12 21.05 HIST1H2BI 0 genome.wustl.edu 37 6 26273373 26273373 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 26273373 26273373 C G SNP HIST1H2BI ENST00000377733 human ensembl 74_37 +1 known missense c.170 p.S57C 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BI HGNC ENSG00000168242 tier1 - - 153 0 0.00 145 47 24.35 HIST1H2BI 0 genome.wustl.edu 37 6 26273373 26273373 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 26273373 26273373 C G SNP HIST1H2BI ENST00000377733 human ensembl 74_37 +1 known missense c.170 p.S57C 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BI HGNC ENSG00000168242 tier1 - - 186 0 0.00 145 47 24.35 HLA-DQA2 0 genome.wustl.edu 37 6 32713088 32713088 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 32713088 32713088 A C SNP HLA-DQA2 ENST00000374940 human ensembl 74_37 +1 known missense c.235 p.S79R 0.001 pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DQA2 HGNC ENSG00000237541 tier1 - - 102 0 0.00 49 5 9.26 HLA-DQA2 0 genome.wustl.edu 37 6 32713088 32713088 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 32713088 32713088 A C SNP HLA-DQA2 ENST00000374940 human ensembl 74_37 +1 known missense c.235 p.S79R 0.001 pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DQA2 HGNC ENSG00000237541 tier1 - - 91 0 0.00 49 5 9.26 HMCN1 0 genome.wustl.edu 37 1 185988735 185988735 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 185988735 185988735 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.5533 p.A1845T 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_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 - - 48 0 0.00 32 23 41.82 HMCN1 0 genome.wustl.edu 37 1 185988735 185988735 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 185988735 185988735 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.5533 p.A1845T 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_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 - - 65 0 0.00 32 23 41.82 HMCN1 0 genome.wustl.edu 37 1 186083996 186083996 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 186083996 186083996 T C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.11322 p.H3774 0.784 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 59 0 0.00 75 5 6.25 HMCN1 0 genome.wustl.edu 37 1 186083996 186083996 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 186083996 186083996 T C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.11322 p.H3774 0.784 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 77 0 0.00 75 5 6.25 HNRNPUL1 0 genome.wustl.edu 37 19 41777994 41777994 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 41777994 41777994 G T SNP HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known missense c.426 p.K142N 1.000 NULL pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL1 HGNC ENSG00000105323 tier1 - - 58 0 0.00 56 4 6.67 HNRNPUL1 0 genome.wustl.edu 37 19 41777994 41777994 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 41777994 41777994 G T SNP HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known missense c.426 p.K142N 1.000 NULL pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL1 HGNC ENSG00000105323 tier1 - - 78 0 0.00 56 4 6.67 HORMAD1 0 genome.wustl.edu 37 1 150691959 150691959 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 150691959 150691959 C G SNP HORMAD1 ENST00000361824 human ensembl 74_37 -1 known missense c.23 p.R8T 1.000 NULL pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors HORMAD1 HGNC ENSG00000143452 tier1 - - 53 0 0.00 31 15 32.61 HORMAD1 0 genome.wustl.edu 37 1 150691959 150691959 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 150691959 150691959 C G SNP HORMAD1 ENST00000361824 human ensembl 74_37 -1 known missense c.23 p.R8T 1.000 NULL pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors HORMAD1 HGNC ENSG00000143452 tier1 - - 64 0 0.00 31 15 32.61 HOXB2 0 genome.wustl.edu 37 17 46622245 46622245 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 46622245 46622245 C T SNP HOXB2 ENST00000330070 human ensembl 74_37 -1 known missense c.29 p.G10E 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB2 HGNC ENSG00000173917 tier1 - - 251 0 0.00 132 30 18.52 HOXB2 0 genome.wustl.edu 37 17 46622245 46622245 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 46622245 46622245 C T SNP HOXB2 ENST00000330070 human ensembl 74_37 -1 known missense c.29 p.G10E 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB2 HGNC ENSG00000173917 tier1 - - 266 0 0.00 132 30 18.52 HRNR 0 genome.wustl.edu 37 1 152191663 152191663 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 152191663 152191663 A C SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.2442 p.A814 0.008 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 126 0 0.00 92 5 5.15 HRNR 0 genome.wustl.edu 37 1 152191663 152191663 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 152191663 152191663 A C SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.2442 p.A814 0.008 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 93 0 0.00 92 5 5.15 HSD17B14 0 genome.wustl.edu 37 19 49335011 49335011 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 49335011 49335011 G T SNP HSD17B14 ENST00000263278 human ensembl 74_37 -1 known missense c.283 p.P95T 0.017 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B14 HGNC ENSG00000087076 79 0 0.00 62 4 6.06 HYDIN 0 genome.wustl.edu 37 16 70993683 70993683 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 70993683 70993683 T G SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.6009 p.E2003D 0.990 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 33 0 0.00 20 5 20.00 HYDIN 0 genome.wustl.edu 37 16 70993683 70993683 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 70993683 70993683 T G SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.6009 p.E2003D 0.990 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 39 0 0.00 20 5 20.00 HYOU1 0 genome.wustl.edu 37 11 118922539 118922539 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 118922539 118922539 G A SNP HYOU1 ENST00000404233 human ensembl 74_37 -1 known missense c.1330 p.P444S 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 tier1 - - 72 0 0.00 26 17 39.53 HYOU1 0 genome.wustl.edu 37 11 118922539 118922539 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 118922539 118922539 G A SNP HYOU1 ENST00000404233 human ensembl 74_37 -1 known missense c.1330 p.P444S 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 tier1 - - 79 0 0.00 26 17 39.53 IBSP 0 genome.wustl.edu 37 4 88731763 88731763 + Silent SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 88731763 88731763 T G SNP IBSP ENST00000226284 human ensembl 74_37 +1 known silent c.252 p.T84 1.000 pfam_BSP_II pfam_BSP_II - no_errors IBSP HGNC ENSG00000029559 tier1 - - 100 0 0.00 57 25 30.49 IBSP 0 genome.wustl.edu 37 4 88731763 88731763 + Silent SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 88731763 88731763 T G SNP IBSP ENST00000226284 human ensembl 74_37 +1 known silent c.252 p.T84 1.000 pfam_BSP_II pfam_BSP_II - no_errors IBSP HGNC ENSG00000029559 tier1 - - 79 0 0.00 57 25 30.49 IGSF1 0 genome.wustl.edu 37 X 130417080 130417080 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 130417080 130417080 T G SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.826 p.K276Q 0.576 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 tier1 - - 37 0 0.00 13 30 69.77 IGSF1 0 genome.wustl.edu 37 X 130417080 130417080 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 130417080 130417080 T G SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.826 p.K276Q 0.576 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 tier1 - - 63 0 0.00 13 30 69.77 IGSF10 0 genome.wustl.edu 37 3 151165478 151165478 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 151165478 151165478 T G SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.2291 p.K764T 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 tier1 - - 53 0 0.00 41 7 14.58 IGSF10 0 genome.wustl.edu 37 3 151165478 151165478 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 151165478 151165478 T G SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.2291 p.K764T 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 tier1 - - 61 0 0.00 41 7 14.58 IL1RL1 0 genome.wustl.edu 37 2 102959851 102959851 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 102959851 102959851 G A SNP IL1RL1 ENST00000233954 human ensembl 74_37 +1 known missense c.946 p.V316I 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL-1_rcpt_I/II-typ,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RL1 HGNC ENSG00000115602 tier1 - - 41 0 0.00 38 9 19.15 INCENP 0 genome.wustl.edu 37 11 61896307 61896307 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 61896307 61896307 G A SNP INCENP ENST00000394818 human ensembl 74_37 +1 known missense c.206 p.R69K 0.994 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 tier1 - - 70 0 0.00 47 13 21.67 INCENP 0 genome.wustl.edu 37 11 61896307 61896307 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 61896307 61896307 G A SNP INCENP ENST00000394818 human ensembl 74_37 +1 known missense c.206 p.R69K 0.994 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 tier1 - - 89 0 0.00 47 13 21.67 INPP5F 0 genome.wustl.edu 37 10 121557109 121557109 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 121557109 121557109 C A SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known missense c.1005 p.S335R 1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 tier1 - - 42 0 0.00 32 18 36.00 INPP5F 0 genome.wustl.edu 37 10 121557109 121557109 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 121557109 121557109 C A SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known missense c.1005 p.S335R 1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 tier1 - - 66 0 0.00 32 18 36.00 INSIG1 0 genome.wustl.edu 37 7 155090010 155090010 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 155090010 155090010 C T SNP INSIG1 ENST00000340368 human ensembl 74_37 +1 known silent c.15 p.H5 1.000 NULL pfam_INSIG_fam - no_errors INSIG1 HGNC ENSG00000186480 tier1 - - 110 0 0.00 50 6 10.71 IRGQ 0 genome.wustl.edu 37 19 44099419 44099419 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 44099419 44099419 G A SNP IRGQ ENST00000422989 human ensembl 74_37 -1 known silent c.72 p.I24 0.009 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors IRGQ HGNC ENSG00000167378 tier1 - - 138 0 0.00 63 26 28.89 IRGQ 0 genome.wustl.edu 37 19 44099419 44099419 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 44099419 44099419 G A SNP IRGQ ENST00000422989 human ensembl 74_37 -1 known silent c.72 p.I24 0.009 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors IRGQ HGNC ENSG00000167378 tier1 - - 145 0 0.00 63 26 28.89 ISLR 0 genome.wustl.edu 37 15 74467812 74467812 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 74467812 74467812 C A SNP ISLR ENST00000249842 human ensembl 74_37 +1 known missense c.613 p.Q205K 0.052 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ISLR HGNC ENSG00000129009 tier1 - - 46 0 0.00 26 9 25.71 ISLR 0 genome.wustl.edu 37 15 74467812 74467812 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 74467812 74467812 C A SNP ISLR ENST00000249842 human ensembl 74_37 +1 known missense c.613 p.Q205K 0.052 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ISLR HGNC ENSG00000129009 tier1 - - 70 0 0.00 26 9 25.71 ITPKC 0 genome.wustl.edu 37 19 41223895 41223895 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 41223895 41223895 C A SNP ITPKC ENST00000263370 human ensembl 74_37 +1 known silent c.855 p.S285 0.038 NULL pfam_IPK - no_errors ITPKC HGNC ENSG00000086544 145 0 0.00 82 5 5.75 ITPR1 0 genome.wustl.edu 37 3 4704812 4704812 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 4704812 4704812 A G SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known silent c.1431 p.Q477 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 tier1 - - 120 0 0.00 71 7 8.97 ITPR1 0 genome.wustl.edu 37 3 4704812 4704812 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 4704812 4704812 A G SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known silent c.1431 p.Q477 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 tier1 - - 71 0 0.00 71 7 8.97 ITSN1 0 genome.wustl.edu 37 21 35195800 35195800 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 21 35195800 35195800 C T SNP ITSN1 ENST00000381285 human ensembl 74_37 +1 known missense c.3026 p.A1009V 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 tier1 - - 82 0 0.00 44 31 40.79 ITSN1 0 genome.wustl.edu 37 21 35229051 35229051 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 21 35229051 35229051 T A SNP ITSN1 ENST00000381285 human ensembl 74_37 +1 known missense c.3673 p.L1225I 0.998 superfamily_DH-domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 tier1 - - 108 0 0.00 73 6 7.59 ITSN1 0 genome.wustl.edu 37 21 35229051 35229051 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 21 35229051 35229051 T A SNP ITSN1 ENST00000381285 human ensembl 74_37 +1 known missense c.3673 p.L1225I 0.998 superfamily_DH-domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 tier1 - - 113 0 0.00 73 6 7.59 IYD 0 genome.wustl.edu 37 6 150716745 150716745 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 150716745 150716745 T G SNP IYD ENST00000500320 human ensembl 74_37 +1 known missense c.842 p.F281C 0.991 NULL pfam_Nitroreductase-like,superfamily_Nitroreductase-like - no_errors IYD HGNC ENSG00000009765 tier1 - - 22 0 0.00 9 14 60.87 IYD 0 genome.wustl.edu 37 6 150716745 150716745 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 150716745 150716745 T G SNP IYD ENST00000500320 human ensembl 74_37 +1 known missense c.842 p.F281C 0.991 NULL pfam_Nitroreductase-like,superfamily_Nitroreductase-like - no_errors IYD HGNC ENSG00000009765 tier1 - - 35 0 0.00 9 14 60.87 JAG2 0 genome.wustl.edu 37 14 105609380 105609380 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 105609380 105609380 G A SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known silent c.3369 p.S1123 0.340 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 tier1 rs138204105 - 11 0 0.00 6 4 40.00 JAG2 0 genome.wustl.edu 37 14 105609380 105609380 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 105609380 105609380 G A SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known silent c.3369 p.S1123 0.340 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 tier1 rs138204105 - 13 0 0.00 6 4 40.00 JAK3 0 genome.wustl.edu 37 19 17942140 17942140 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 17942140 17942140 T G SNP JAK3 ENST00000458235 human ensembl 74_37 -1 known missense c.2875 p.S959R 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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 tier1 - - 117 0 0.00 87 9 9.38 JAK3 0 genome.wustl.edu 37 19 17942140 17942140 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 17942140 17942140 T G SNP JAK3 ENST00000458235 human ensembl 74_37 -1 known missense c.2875 p.S959R 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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 tier1 - - 139 0 0.00 87 9 9.38 KANK1 0 genome.wustl.edu 37 9 732475 732477 + In_Frame_Del DEL GAG GAG - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 732475 732477 GAG - DEL KANK1 ENST00000382297 human ensembl 74_37 +1 known in_frame_del c.3103_3105 p.E1038in_frame_del 1.000:1.000:1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 tier1 65 0 0.00 35 5 12.50 KANK1 0 genome.wustl.edu 37 9 732475 732477 + In_Frame_Del DEL GAG GAG - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 732475 732477 GAG - DEL KANK1 ENST00000382297 human ensembl 74_37 +1 known in_frame_del c.3103_3105 p.E1038in_frame_del 1.000:1.000:1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 tier1 73 0 0.00 35 5 12.50 KATNAL2 0 genome.wustl.edu 37 18 44585961 44585961 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 44585961 44585961 A C SNP KATNAL2 ENST00000245121 human ensembl 74_37 +1 known missense c.269 p.N90T 0.987 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNAL2 HGNC ENSG00000167216 tier1 - - 100 0 0.00 42 4 8.70 KATNAL2 0 genome.wustl.edu 37 18 44585961 44585961 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 44585961 44585961 A C SNP KATNAL2 ENST00000245121 human ensembl 74_37 +1 known missense c.269 p.N90T 0.987 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNAL2 HGNC ENSG00000167216 tier1 - - 78 0 0.00 42 4 8.70 KCNH7 0 genome.wustl.edu 37 2 163374290 163374290 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 163374290 163374290 C A SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known missense c.842 p.G281V 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 36 0 0.00 31 4 11.43 KCNQ3 0 genome.wustl.edu 37 8 133192504 133192504 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 133192504 133192504 A G SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.677 p.L226P 1.000 pfam_Ion_trans_dom pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 30 0 0.00 32 4 11.11 KCNRG 0 genome.wustl.edu 37 13 50589912 50589912 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 13 50589912 50589912 G T SNP KCNRG ENST00000312942 human ensembl 74_37 +1 known missense c.283 p.V95F 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCNRG HGNC ENSG00000198553 41 0 0.00 53 5 8.62 KCNS3 0 genome.wustl.edu 37 2 18112861 18112861 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 18112861 18112861 C A SNP KCNS3 ENST00000304101 human ensembl 74_37 +1 known missense c.586 p.L196M 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv9 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_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 tier1 - - 42 0 0.00 26 6 18.75 KCNS3 0 genome.wustl.edu 37 2 18112861 18112861 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 18112861 18112861 C A SNP KCNS3 ENST00000304101 human ensembl 74_37 +1 known missense c.586 p.L196M 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv9 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_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 tier1 - - 74 0 0.00 26 6 18.75 KCNT2 0 genome.wustl.edu 37 1 196300370 196300370 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 196300370 196300370 A C SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known silent c.2019 p.P673 0.634 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 88 0 0.00 70 4 5.41 KDM3B 0 genome.wustl.edu 37 5 137727387 137727387 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 137727387 137727387 A C SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known missense c.2066 p.K689T 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 tier1 - - 35 0 0.00 21 8 27.59 KDM3B 0 genome.wustl.edu 37 5 137727387 137727387 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 137727387 137727387 A C SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known missense c.2066 p.K689T 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 tier1 - - 37 0 0.00 21 8 27.59 KIAA0895 0 genome.wustl.edu 37 7 36373542 36373542 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 36373542 36373542 C A SNP KIAA0895 ENST00000297063 human ensembl 74_37 -1 known missense c.1229 p.R410M 0.975 pfam_DUF1704 pfam_DUF1704 - no_errors KIAA0895 HGNC ENSG00000164542 tier1 - - 126 0 0.00 129 16 11.03 KIAA0895 0 genome.wustl.edu 37 7 36373542 36373542 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 36373542 36373542 C A SNP KIAA0895 ENST00000297063 human ensembl 74_37 -1 known missense c.1229 p.R410M 0.975 pfam_DUF1704 pfam_DUF1704 - no_errors KIAA0895 HGNC ENSG00000164542 tier1 - - 133 0 0.00 129 16 11.03 KIAA0947 0 genome.wustl.edu 37 5 5464788 5464788 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 5464788 5464788 G A SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.5341 p.A1781T 0.015 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 tier1 - - 81 0 0.00 43 4 8.51 KIAA0947 0 genome.wustl.edu 37 5 5464788 5464788 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 5464788 5464788 G A SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.5341 p.A1781T 0.015 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 tier1 - - 85 0 0.00 43 4 8.51 KIAA1107 0 genome.wustl.edu 37 1 92642532 92642532 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 92642532 92642532 T C SNP KIAA1107 ENST00000409154 human ensembl 74_37 +1 known silent c.633 p.N211 0.560 NULL NULL - no_errors KIAA1107 HGNC ENSG00000069712 tier1 - - 106 0 0.00 65 4 5.80 KIAA1107 0 genome.wustl.edu 37 1 92642532 92642532 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 92642532 92642532 T C SNP KIAA1107 ENST00000409154 human ensembl 74_37 +1 known silent c.633 p.N211 0.560 NULL NULL - no_errors KIAA1107 HGNC ENSG00000069712 tier1 - - 60 0 0.00 65 4 5.80 KIAA1109 0 genome.wustl.edu 37 4 123188104 123188104 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 123188104 123188104 G A SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.7484 p.R2495K 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 tier1 - - 39 0 0.00 42 17 28.81 KIAA1109 0 genome.wustl.edu 37 4 123188104 123188104 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 123188104 123188104 G A SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.7484 p.R2495K 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 tier1 - - 50 0 0.00 42 17 28.81 KIAA1755 0 genome.wustl.edu 37 20 36869850 36869850 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 36869850 36869850 A T SNP KIAA1755 ENST00000279024 human ensembl 74_37 -1 known missense c.683 p.L228H 0.051 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 tier1 - - 62 0 0.00 59 51 45.95 KIAA1755 0 genome.wustl.edu 37 20 36869850 36869850 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 36869850 36869850 A T SNP KIAA1755 ENST00000279024 human ensembl 74_37 -1 known missense c.683 p.L228H 0.051 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 tier1 - - 71 0 0.00 59 51 45.95 KIF24 0 genome.wustl.edu 37 9 34311339 34311339 + Silent SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 34311339 34311339 T A SNP KIF24 ENST00000379166 human ensembl 74_37 -1 known silent c.6 p.A2 0.998 superfamily_SAM/pointed,pfscan_SAM pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 tier1 - - 82 0 0.00 48 4 7.69 KIF9 0 genome.wustl.edu 37 3 47287002 47287002 + Splice_Site SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 47287002 47287002 C T SNP KIF9 ENST00000265529 human ensembl 74_37 -1 known splice_site c.1290-1 e13-1 1.000 - - - no_errors KIF9 HGNC ENSG00000088727 tier1 - - 76 0 0.00 42 5 10.42 KIF9 0 genome.wustl.edu 37 3 47287002 47287002 + Splice_Site SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 47287002 47287002 C T SNP KIF9 ENST00000265529 human ensembl 74_37 -1 known splice_site c.1290-1 e13-1 1.000 - - - no_errors KIF9 HGNC ENSG00000088727 tier1 - - 77 0 0.00 42 5 10.42 KLK3 0 genome.wustl.edu 37 19 51362846 51362846 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 51362846 51362846 C A SNP KLK3 ENST00000360617 human ensembl 74_37 +1 known missense c.691 p.L231I 0.190 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK3 HGNC ENSG00000142515 tier1 - - 60 0 0.00 34 4 10.53 KLK3 0 genome.wustl.edu 37 19 51362846 51362846 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 51362846 51362846 C A SNP KLK3 ENST00000360617 human ensembl 74_37 +1 known missense c.691 p.L231I 0.190 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK3 HGNC ENSG00000142515 tier1 - - 74 0 0.00 34 4 10.53 KNG1 0 genome.wustl.edu 37 3 186440291 186440291 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 186440291 186440291 G T SNP KNG1 ENST00000265023 human ensembl 74_37 +1 known missense c.372 p.Q124H 1.000 smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen - no_errors KNG1 HGNC ENSG00000113889 tier1 - - 102 0 0.00 77 5 6.02 KNG1 0 genome.wustl.edu 37 3 186440291 186440291 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 186440291 186440291 G T SNP KNG1 ENST00000265023 human ensembl 74_37 +1 known missense c.372 p.Q124H 1.000 smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen - no_errors KNG1 HGNC ENSG00000113889 tier1 - - 119 0 0.00 77 5 6.02 KRAS 0 genome.wustl.edu 37 12 25380275 25380275 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 25380275 25380275 T G SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.183 p.Q61H 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 tier1 rs17851045 - 64 0 0.00 46 4 7.84 KRAS 0 genome.wustl.edu 37 12 25380275 25380275 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 25380275 25380275 T G SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.183 p.Q61H 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 tier1 rs17851045 - 74 0 0.00 46 4 7.84 KREMEN1 0 genome.wustl.edu 37 22 29533335 29533335 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 29533335 29533335 G T SNP KREMEN1 ENST00000327813 human ensembl 74_37 +1 known missense c.637 p.V213L 0.211 pirsf_Kremen pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN1 HGNC ENSG00000183762 tier1 - - 54 0 0.00 21 3 12.50 KRIT1 0 genome.wustl.edu 37 7 91842564 91842564 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 91842564 91842564 G A SNP KRIT1 ENST00000340022 human ensembl 74_37 -1 known missense c.1970 p.P657L 1.000 pfscan_FERM_domain pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain - no_errors KRIT1 HGNC ENSG00000001631 tier1 - - 32 0 0.00 392 22 5.29 KRIT1 0 genome.wustl.edu 37 7 91842564 91842564 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 91842564 91842564 G A SNP KRIT1 ENST00000340022 human ensembl 74_37 -1 known missense c.1970 p.P657L 1.000 pfscan_FERM_domain pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain - no_errors KRIT1 HGNC ENSG00000001631 tier1 - - 72 0 0.00 392 22 5.29 KRT24 0 genome.wustl.edu 37 17 38859476 38859476 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 38859476 38859476 T G SNP KRT24 ENST00000264651 human ensembl 74_37 -1 known missense c.470 p.K157T 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT24 HGNC ENSG00000167916 tier1 - - 60 0 0.00 118 11 8.53 KRT26 0 genome.wustl.edu 37 17 38928284 38928284 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 38928284 38928284 A C SNP KRT26 ENST00000335552 human ensembl 74_37 -1 known missense c.82 p.F28V 0.277 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT26 HGNC ENSG00000186393 tier1 - - 102 0 0.00 98 11 10.00 KRT26 0 genome.wustl.edu 37 17 38928284 38928284 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 38928284 38928284 A C SNP KRT26 ENST00000335552 human ensembl 74_37 -1 known missense c.82 p.F28V 0.277 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT26 HGNC ENSG00000186393 tier1 - - 70 0 0.00 98 11 10.00 KRT27 0 genome.wustl.edu 37 17 38938665 38938665 + Silent SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 38938665 38938665 T G SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known silent c.81 p.G27 0.009 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 tier1 - - 55 0 0.00 81 6 6.82 KRT27 0 genome.wustl.edu 37 17 38938665 38938665 + Silent SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 38938665 38938665 T G SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known silent c.81 p.G27 0.009 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 tier1 - - 69 0 0.00 81 6 6.82 KRT4 0 genome.wustl.edu 37 12 53202111 53202111 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 53202111 53202111 C T SNP KRT4 ENST00000293774 human ensembl 74_37 -1 known silent c.1314 p.R438 0.998 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT4 HGNC ENSG00000170477 tier1 - - 30 0 0.00 43 6 12.24 KRT4 0 genome.wustl.edu 37 12 53202111 53202111 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 53202111 53202111 C T SNP KRT4 ENST00000293774 human ensembl 74_37 -1 known silent c.1314 p.R438 0.998 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT4 HGNC ENSG00000170477 tier1 - - 41 0 0.00 43 6 12.24 KRT76 0 genome.wustl.edu 37 12 53162830 53162830 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 53162830 53162830 C A SNP KRT76 ENST00000332411 human ensembl 74_37 -1 known silent c.1584 p.G528 0.140 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC ENSG00000185069 tier1 - - 64 0 0.00 42 5 10.64 KRT76 0 genome.wustl.edu 37 12 53162830 53162830 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 53162830 53162830 C A SNP KRT76 ENST00000332411 human ensembl 74_37 -1 known silent c.1584 p.G528 0.140 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC ENSG00000185069 tier1 - - 75 0 0.00 42 5 10.64 KRT84 0 genome.wustl.edu 37 12 52777380 52777380 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 52777380 52777380 T A SNP KRT84 ENST00000257951 human ensembl 74_37 -1 known missense c.749 p.K250M 1.000 pfam_IF,prints_Keratin_II,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT84 HGNC ENSG00000161849 tier1 - - 48 0 0.00 25 4 13.79 KRT84 0 genome.wustl.edu 37 12 52777380 52777380 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 52777380 52777380 T A SNP KRT84 ENST00000257951 human ensembl 74_37 -1 known missense c.749 p.K250M 1.000 pfam_IF,prints_Keratin_II,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT84 HGNC ENSG00000161849 tier1 - - 51 0 0.00 25 4 13.79 KRT85 0 genome.wustl.edu 37 12 52756165 52756165 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 52756165 52756165 C A SNP KRT85 ENST00000257901 human ensembl 74_37 -1 known missense c.1168 p.G390C 0.999 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 tier1 - - 52 0 0.00 31 4 11.43 KRT85 0 genome.wustl.edu 37 12 52756165 52756165 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 52756165 52756165 C A SNP KRT85 ENST00000257901 human ensembl 74_37 -1 known missense c.1168 p.G390C 0.999 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 tier1 - - 56 0 0.00 31 4 11.43 KTN1 0 genome.wustl.edu 37 14 56113725 56113725 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 56113725 56113725 G T SNP KTN1 ENST00000395309 human ensembl 74_37 +1 known missense c.2207 p.C736F 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 79 0 0.00 54 4 6.90 L3MBTL4 0 genome.wustl.edu 37 18 6171845 6171845 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 6171845 6171845 G A SNP L3MBTL4 ENST00000284898 human ensembl 74_37 -1 known missense c.1078 p.P360S 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 tier1 - - 60 0 0.00 36 17 32.08 L3MBTL4 0 genome.wustl.edu 37 18 6171845 6171845 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 6171845 6171845 G A SNP L3MBTL4 ENST00000284898 human ensembl 74_37 -1 known missense c.1078 p.P360S 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 tier1 - - 81 0 0.00 36 17 32.08 LAMA1 0 genome.wustl.edu 37 18 6985297 6985297 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 6985297 6985297 G C SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.5599 p.L1867V 0.906 NULL pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 51 0 0.00 32 4 11.11 LAMA1 0 genome.wustl.edu 37 18 6985297 6985297 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 6985297 6985297 G C SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.5599 p.L1867V 0.906 NULL pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 67 0 0.00 32 4 11.11 LAMA1 0 genome.wustl.edu 37 18 7037696 7037696 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 7037696 7037696 G T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.1618 p.P540T 0.029 pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 34 0 0.00 20 4 16.67 LAMA1 0 genome.wustl.edu 37 18 7037696 7037696 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 7037696 7037696 G T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.1618 p.P540T 0.029 pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 59 0 0.00 20 4 16.67 LAMA2 0 genome.wustl.edu 37 6 129475657 129475657 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 129475657 129475657 T G SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.1035 p.N345K 1.000 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 tier1 - - 56 0 0.00 57 6 9.52 LAMA2 0 genome.wustl.edu 37 6 129475657 129475657 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 129475657 129475657 T G SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.1035 p.N345K 1.000 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 tier1 - - 81 0 0.00 57 6 9.52 LAMB4 0 genome.wustl.edu 37 7 107696117 107696117 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 107696117 107696117 C G SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.3715 p.G1239R 0.970 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 tier1 - - 108 0 0.00 60 18 23.08 LAMB4 0 genome.wustl.edu 37 7 107696117 107696117 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 107696117 107696117 C G SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.3715 p.G1239R 0.970 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 tier1 - - 92 0 0.00 60 18 23.08 LCE1E 0 genome.wustl.edu 37 1 152760062 152760062 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 152760062 152760062 G T SNP LCE1E ENST00000368770 human ensembl 74_37 +1 known missense c.287 p.C96F 0.997 NULL NULL - no_errors LCE1E HGNC ENSG00000186226 tier1 - - 75 0 0.00 49 5 9.26 LCE1E 0 genome.wustl.edu 37 1 152760062 152760062 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 152760062 152760062 G T SNP LCE1E ENST00000368770 human ensembl 74_37 +1 known missense c.287 p.C96F 0.997 NULL NULL - no_errors LCE1E HGNC ENSG00000186226 tier1 - - 76 0 0.00 49 5 9.26 LCT 0 genome.wustl.edu 37 2 136581559 136581559 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 136581559 136581559 T G SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.819 p.K273N 1.000 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 tier1 - - 46 0 0.00 51 4 7.27 LCT 0 genome.wustl.edu 37 2 136581559 136581559 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 136581559 136581559 T G SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.819 p.K273N 1.000 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 tier1 - - 73 0 0.00 51 4 7.27 LEF1 0 genome.wustl.edu 37 4 109004508 109004508 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 109004508 109004508 T C SNP LEF1 ENST00000512172 human ensembl 74_37 -1 putative silent c.438 p.*146 1.000 NULL pfam_CTNNB1-bd_N - no_errors LEF1 HGNC ENSG00000138795 tier1 - - 86 0 0.00 63 21 25.00 LEF1 0 genome.wustl.edu 37 4 109004508 109004508 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 109004508 109004508 T C SNP LEF1 ENST00000512172 human ensembl 74_37 -1 putative silent c.438 p.*146 1.000 NULL pfam_CTNNB1-bd_N - no_errors LEF1 HGNC ENSG00000138795 tier1 - - 92 0 0.00 63 21 25.00 LIFR 0 genome.wustl.edu 37 5 38510727 38510727 + Frame_Shift_Del DEL A A - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 38510727 38510727 A - DEL LIFR ENST00000263409 human ensembl 74_37 -1 known frame_shift_del c.830 p.V277fs 0.351 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 tier1 128 0 0.00 64 7 9.86 LIFR 0 genome.wustl.edu 37 5 38510727 38510727 + Frame_Shift_Del DEL A A - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 38510727 38510727 A - DEL LIFR ENST00000263409 human ensembl 74_37 -1 known frame_shift_del c.830 p.V277fs 0.351 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 tier1 73 0 0.00 64 7 9.86 LIFR 0 genome.wustl.edu 37 5 38510729 38510729 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 38510729 38510729 T C SNP LIFR ENST00000263409 human ensembl 74_37 -1 known silent c.828 p.K276 0.108 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 tier1 - - 122 0 0.00 65 7 9.72 LIFR 0 genome.wustl.edu 37 5 38510729 38510729 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 38510729 38510729 T C SNP LIFR ENST00000263409 human ensembl 74_37 -1 known silent c.828 p.K276 0.108 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 tier1 - - 72 0 0.00 65 7 9.72 LIFR 0 genome.wustl.edu 37 5 38510735 38510735 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 38510735 38510735 T C SNP LIFR ENST00000263409 human ensembl 74_37 -1 known silent c.822 p.Q274 0.255 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 tier1 - - 126 0 0.00 59 7 10.61 LIFR 0 genome.wustl.edu 37 5 38510735 38510735 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 38510735 38510735 T C SNP LIFR ENST00000263409 human ensembl 74_37 -1 known silent c.822 p.Q274 0.255 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 tier1 - - 71 0 0.00 59 7 10.61 LIMCH1 0 genome.wustl.edu 37 4 41652620 41652620 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 41652620 41652620 C T SNP LIMCH1 ENST00000503057 human ensembl 74_37 +1 known missense c.3031 p.L1011F 0.002 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 tier1 - - 41 0 0.00 15 7 31.82 LIMCH1 0 genome.wustl.edu 37 4 41652620 41652620 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 41652620 41652620 C T SNP LIMCH1 ENST00000503057 human ensembl 74_37 +1 known missense c.3031 p.L1011F 0.002 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 tier1 - - 47 0 0.00 15 7 31.82 LINC00200 0 genome.wustl.edu 37 10 1208488 1208488 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 1208488 1208488 G T SNP LINC00200 ENST00000425630 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00200 HGNC ENSG00000229205 tier1 - - 41 0 0.00 34 4 10.53 LINC00200 0 genome.wustl.edu 37 10 1208488 1208488 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 1208488 1208488 G T SNP LINC00200 ENST00000425630 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00200 HGNC ENSG00000229205 tier1 - - 58 0 0.00 34 4 10.53 LINC00301 0 genome.wustl.edu 37 11 60388573 60388573 + RNA SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 60388573 60388573 A C SNP LINC00301 ENST00000320202 human ensembl 74_37 +1 known rna NULL NULL 0.035 - - - no_errors LINC00301 HGNC ENSG00000181995 tier1 - - 106 0 0.00 61 5 7.46 LINC00301 0 genome.wustl.edu 37 11 60388573 60388573 + RNA SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 60388573 60388573 A C SNP LINC00301 ENST00000320202 human ensembl 74_37 +1 known rna NULL NULL 0.035 - - - no_errors LINC00301 HGNC ENSG00000181995 tier1 - - 60 0 0.00 61 5 7.46 LINC00599 0 genome.wustl.edu 37 8 9760910 9760910 + RNA SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 9760910 9760910 T G SNP LINC00599 ENST00000385275 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors LINC00599 HGNC ENSG00000253230 tier1 - - 102 0 0.00 51 12 19.05 LINC00599 0 genome.wustl.edu 37 8 9760910 9760910 + RNA SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 9760910 9760910 T G SNP LINC00599 ENST00000385275 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors LINC00599 HGNC ENSG00000253230 tier1 - - 96 0 0.00 51 12 19.05 LIPI 0 genome.wustl.edu 37 21 15517060 15517060 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 21 15517060 15517060 G C SNP LIPI ENST00000344577 human ensembl 74_37 -1 known missense c.1242 p.D414E 0.178 pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPI HGNC ENSG00000188992 tier1 - - 100 0 0.00 75 4 5.06 LIPI 0 genome.wustl.edu 37 21 15517060 15517060 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 21 15517060 15517060 G C SNP LIPI ENST00000344577 human ensembl 74_37 -1 known missense c.1242 p.D414E 0.178 pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPI HGNC ENSG00000188992 tier1 - - 73 0 0.00 75 4 5.06 LIX1 0 genome.wustl.edu 37 5 96430719 96430719 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 96430719 96430719 A G SNP LIX1 ENST00000274382 human ensembl 74_37 -1 known silent c.582 p.S194 1.000 NULL NULL - no_errors LIX1 HGNC ENSG00000145721 tier1 - - 43 0 0.00 23 5 17.86 LMOD1 0 genome.wustl.edu 37 1 201869082 201869082 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 201869082 201869082 C T SNP LMOD1 ENST00000367288 human ensembl 74_37 -1 known silent c.1059 p.E353 1.000 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 tier1 - - 40 0 0.00 26 20 43.48 LMOD1 0 genome.wustl.edu 37 1 201869082 201869082 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 201869082 201869082 C T SNP LMOD1 ENST00000367288 human ensembl 74_37 -1 known silent c.1059 p.E353 1.000 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 tier1 - - 51 0 0.00 26 20 43.48 LOC100128317 0 genome.wustl.edu 37 7 81207855 81207855 + RNA SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 81207855 81207855 T C SNP LOC100128317 ENST00000413944 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC010091.1 Clone_based_vega_gene ENSG00000233491 tier1 - - 58 0 0.00 57 27 32.14 LOC100128317 0 genome.wustl.edu 37 7 81207855 81207855 + RNA SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 81207855 81207855 T C SNP LOC100128317 ENST00000413944 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC010091.1 Clone_based_vega_gene ENSG00000233491 tier1 - - 71 0 0.00 57 27 32.14 LOC100631378 0 genome.wustl.edu 37 19 38315139 38315139 + RNA SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 38315139 38315139 A G SNP LOC100631378 ENST00000592640 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC016582.2 Clone_based_vega_gene ENSG00000225868 tier1 - - 71 0 0.00 74 4 5.13 LOC101927091 0 genome.wustl.edu 37 15 94304129 94304129 + RNA SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 94304129 94304129 A C SNP LOC101927091 ENST00000557481 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors CTD-3049M7.1 Clone_based_vega_gene ENSG00000258754 tier1 - - 45 0 0.00 28 5 15.15 LOC101927648 0 genome.wustl.edu 37 1 143400965 143400965 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 143400965 143400965 G T SNP LOC101927648 ENST00000443766 human ensembl 74_37 -1 known rna NULL NULL 0.023 - - - no_errors RP11-435B5.4 Clone_based_vega_gene ENSG00000185044 tier1 - - 346 0 0.00 231 15 6.10 LOC101927648 0 genome.wustl.edu 37 1 143400966 143400966 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 143400966 143400966 G T SNP LOC101927648 ENST00000443766 human ensembl 74_37 -1 known rna NULL NULL 0.026 - - - no_errors RP11-435B5.4 Clone_based_vega_gene ENSG00000185044 tier1 - - 346 0 0.00 232 15 6.07 LOC101927648 0 genome.wustl.edu 37 1 143400966 143400966 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 143400966 143400966 G T SNP LOC101927648 ENST00000443766 human ensembl 74_37 -1 known rna NULL NULL 0.026 - - - no_errors RP11-435B5.4 Clone_based_vega_gene ENSG00000185044 tier1 - - 365 0 0.00 232 15 6.07 LOC149134 0 genome.wustl.edu 37 1 246939869 246939869 + RNA SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 246939869 246939869 A G SNP LOC149134 ENST00000421003 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-439E19.3 Clone_based_vega_gene ENSG00000227953 tier1 - - 34 0 0.00 37 7 15.91 LOC149134 0 genome.wustl.edu 37 1 246939869 246939869 + RNA SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 246939869 246939869 A G SNP LOC149134 ENST00000421003 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-439E19.3 Clone_based_vega_gene ENSG00000227953 tier1 - - 54 0 0.00 37 7 15.91 LOC644145 0 genome.wustl.edu 37 4 56697559 56697559 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 56697559 56697559 G T SNP LOC644145 ENST00000504250 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-345F18.1 Clone_based_vega_gene ENSG00000250821 tier1 - - 42 0 0.00 54 6 10.00 LOC644145 0 genome.wustl.edu 37 4 56697559 56697559 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 56697559 56697559 G T SNP LOC644145 ENST00000504250 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-345F18.1 Clone_based_vega_gene ENSG00000250821 tier1 - - 58 0 0.00 54 6 10.00 LPCAT4 0 genome.wustl.edu 37 15 34651894 34651894 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 34651894 34651894 C G SNP LPCAT4 ENST00000314891 human ensembl 74_37 -1 known missense c.1295 p.G432A 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LPCAT4 HGNC ENSG00000176454 tier1 - - 110 0 0.00 75 4 5.06 LPCAT4 0 genome.wustl.edu 37 15 34651894 34651894 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 34651894 34651894 C G SNP LPCAT4 ENST00000314891 human ensembl 74_37 -1 known missense c.1295 p.G432A 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LPCAT4 HGNC ENSG00000176454 tier1 - - 113 0 0.00 75 4 5.06 LPPR4 0 genome.wustl.edu 37 1 99771718 99771718 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 99771718 99771718 A G SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known missense c.1444 p.S482G 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 tier1 - - 36 0 0.00 20 10 33.33 LPPR4 0 genome.wustl.edu 37 1 99771718 99771718 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 99771718 99771718 A G SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known missense c.1444 p.S482G 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 tier1 - - 59 0 0.00 20 10 33.33 LRIG1 0 genome.wustl.edu 37 3 66434524 66434524 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 66434524 66434524 G A SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known silent c.1962 p.D654 0.896 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG1 HGNC ENSG00000144749 tier1 - - 45 0 0.00 29 6 17.14 LRIG1 0 genome.wustl.edu 37 3 66434524 66434524 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 66434524 66434524 G A SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known silent c.1962 p.D654 0.896 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG1 HGNC ENSG00000144749 tier1 - - 56 0 0.00 29 6 17.14 LRIG2 0 genome.wustl.edu 37 1 113666539 113666539 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 113666539 113666539 G T SNP LRIG2 ENST00000361127 human ensembl 74_37 +1 known missense c.3014 p.G1005V 0.577 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG2 HGNC ENSG00000198799 tier1 - - 47 0 0.00 36 4 10.00 LRIG2 0 genome.wustl.edu 37 1 113666539 113666539 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 113666539 113666539 G T SNP LRIG2 ENST00000361127 human ensembl 74_37 +1 known missense c.3014 p.G1005V 0.577 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG2 HGNC ENSG00000198799 tier1 - - 57 0 0.00 36 4 10.00 LRP12 0 genome.wustl.edu 37 8 105502452 105502452 + RNA DEL T T - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 105502452 105502452 T - DEL LRP12 ENST00000518375 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors LRP12 HGNC ENSG00000147650 tier1 66 0 0.00 49 25 33.78 LRP12 0 genome.wustl.edu 37 8 105509676 105509676 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 105509676 105509676 A C SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known silent c.1047 p.T349 0.998 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 - - 54 0 0.00 14 30 68.18 LRP12 0 genome.wustl.edu 37 8 105509676 105509676 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 105509676 105509676 A C SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known silent c.1047 p.T349 0.998 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 - - 87 0 0.00 14 30 68.18 LRP1B 0 genome.wustl.edu 37 2 141986843 141986843 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 141986843 141986843 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.759 p.R253 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,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 LRP1B HGNC ENSG00000168702 tier1 - - 42 0 0.00 51 24 32.00 LRP1B 0 genome.wustl.edu 37 2 141986843 141986843 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 141986843 141986843 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.759 p.R253 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,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 LRP1B HGNC ENSG00000168702 tier1 - - 62 0 0.00 51 24 32.00 LRP1B 0 genome.wustl.edu 37 2 142012179 142012179 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 142012179 142012179 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.375 p.C125 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,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 LRP1B HGNC ENSG00000168702 tier1 - - 23 0 0.00 30 7 18.92 LRP1B 0 genome.wustl.edu 37 2 142012179 142012179 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 142012179 142012179 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.375 p.C125 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,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 LRP1B HGNC ENSG00000168702 tier1 - - 31 0 0.00 30 7 18.92 LRRC14 0 genome.wustl.edu 37 8 145746747 145746747 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 145746747 145746747 A G SNP LRRC14 ENST00000292524 human ensembl 74_37 +1 known missense c.1367 p.K456R 1.000 NULL NULL - no_errors LRRC14 HGNC ENSG00000160959 tier1 - - 36 0 0.00 32 4 11.11 LRRC14 0 genome.wustl.edu 37 8 145746747 145746747 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 145746747 145746747 A G SNP LRRC14 ENST00000292524 human ensembl 74_37 +1 known missense c.1367 p.K456R 1.000 NULL NULL - no_errors LRRC14 HGNC ENSG00000160959 tier1 - - 39 0 0.00 32 4 11.11 LRRC30 0 genome.wustl.edu 37 18 7231776 7231776 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 7231776 7231776 T A SNP LRRC30 ENST00000383467 human ensembl 74_37 +1 known missense c.640 p.F214I 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC30 HGNC ENSG00000206422 tier1 - - 54 0 0.00 22 12 35.29 LRRC30 0 genome.wustl.edu 37 18 7231776 7231776 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 7231776 7231776 T A SNP LRRC30 ENST00000383467 human ensembl 74_37 +1 known missense c.640 p.F214I 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC30 HGNC ENSG00000206422 tier1 - - 72 0 0.00 22 12 35.29 LRRC37A11P 0 genome.wustl.edu 37 17 37186234 37186234 + RNA SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 37186234 37186234 C T SNP LRRC37A11P ENST00000425901 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors LRRC37A11P HGNC ENSG00000214553 tier1 - - 105 0 0.00 200 14 6.51 LRRC37A11P 0 genome.wustl.edu 37 17 37186234 37186234 + RNA SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 37186234 37186234 C T SNP LRRC37A11P ENST00000425901 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors LRRC37A11P HGNC ENSG00000214553 tier1 - - 108 0 0.00 200 14 6.51 LRRC8A 0 genome.wustl.edu 37 9 131669999 131669999 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 131669999 131669999 G T SNP LRRC8A ENST00000259324 human ensembl 74_37 +1 known missense c.556 p.A186S 0.906 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 37 0 0.00 23 3 11.54 LRTM1 0 genome.wustl.edu 37 3 54952519 54952519 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 54952519 54952519 T G SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.1005 p.E335D 0.784 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 tier1 - - 38 0 0.00 12 4 25.00 LUM 0 genome.wustl.edu 37 12 91502123 91502123 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 91502123 91502123 A C SNP LUM ENST00000266718 human ensembl 74_37 -1 known missense c.634 p.L212V 0.998 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LUM HGNC ENSG00000139329 tier1 - - 32 0 0.00 40 8 16.67 LUM 0 genome.wustl.edu 37 12 91502123 91502123 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 91502123 91502123 A C SNP LUM ENST00000266718 human ensembl 74_37 -1 known missense c.634 p.L212V 0.998 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LUM HGNC ENSG00000139329 tier1 - - 52 0 0.00 40 8 16.67 LZTR1 0 genome.wustl.edu 37 22 21346611 21346611 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 21346611 21346611 G C SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known missense c.1102 p.D368H 1.000 NULL pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 tier1 - - 57 0 0.00 36 4 10.00 LZTR1 0 genome.wustl.edu 37 22 21346611 21346611 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 21346611 21346611 G C SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known missense c.1102 p.D368H 1.000 NULL pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 tier1 - - 62 0 0.00 36 4 10.00 MAGEA4 0 genome.wustl.edu 37 X 151092794 151092794 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 151092794 151092794 G C SNP MAGEA4 ENST00000276344 human ensembl 74_37 +1 known missense c.658 p.E220Q 0.025 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA4 HGNC ENSG00000147381 tier1 - - 57 0 0.00 41 15 26.79 MAGEA4 0 genome.wustl.edu 37 X 151092794 151092794 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 151092794 151092794 G C SNP MAGEA4 ENST00000276344 human ensembl 74_37 +1 known missense c.658 p.E220Q 0.025 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA4 HGNC ENSG00000147381 tier1 - - 61 0 0.00 41 15 26.79 MAGEA8 0 genome.wustl.edu 37 X 149013830 149013830 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 149013830 149013830 C T SNP MAGEA8 ENST00000286482 human ensembl 74_37 +1 known missense c.784 p.R262C 0.134 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA8 HGNC ENSG00000156009 tier1 - - 84 0 0.00 40 32 43.84 MAGEA8 0 genome.wustl.edu 37 X 149013830 149013830 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 149013830 149013830 C T SNP MAGEA8 ENST00000286482 human ensembl 74_37 +1 known missense c.784 p.R262C 0.134 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA8 HGNC ENSG00000156009 tier1 - - 86 0 0.00 40 32 43.84 MAGEL2 0 genome.wustl.edu 37 15 23889690 23889690 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 23889690 23889690 T C SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.1391 p.N464S 0.003 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 tier1 - - 48 0 0.00 26 9 25.71 MAGEL2 0 genome.wustl.edu 37 15 23889690 23889690 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 23889690 23889690 T C SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.1391 p.N464S 0.003 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 tier1 - - 55 0 0.00 26 9 25.71 MALAT1 0 genome.wustl.edu 37 11 65269897 65269898 + RNA INS - - T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 65269897 65269898 - T INS MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.985:0.013 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 41 0 0.00 33 3 8.33 MALAT1 0 genome.wustl.edu 37 11 65269897 65269898 + RNA INS - - T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 65269897 65269898 - T INS MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.985:0.013 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 59 0 0.00 33 3 8.33 MAN1A1 0 genome.wustl.edu 37 6 119522431 119522431 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 119522431 119522431 G T SNP MAN1A1 ENST00000368468 human ensembl 74_37 -1 known missense c.1198 p.Q400K 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A1 HGNC ENSG00000111885 tier1 - - 77 0 0.00 54 4 6.90 MAN1A1 0 genome.wustl.edu 37 6 119522431 119522431 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 119522431 119522431 G T SNP MAN1A1 ENST00000368468 human ensembl 74_37 -1 known missense c.1198 p.Q400K 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A1 HGNC ENSG00000111885 tier1 - - 85 0 0.00 54 4 6.90 MAP3K14 0 genome.wustl.edu 37 17 43348297 43348297 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 43348297 43348297 G T SNP MAP3K14 ENST00000376926 human ensembl 74_37 -1 known rna NULL NULL 0.336 - - - no_errors MAP3K14 HGNC ENSG00000006062 tier1 - - 21 0 0.00 7 6 46.15 MAP3K14 0 genome.wustl.edu 37 17 43348297 43348297 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 43348297 43348297 G T SNP MAP3K14 ENST00000376926 human ensembl 74_37 -1 known rna NULL NULL 0.336 - - - no_errors MAP3K14 HGNC ENSG00000006062 tier1 - - 28 0 0.00 7 6 46.15 MAP3K2 0 genome.wustl.edu 37 2 128075781 128075781 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 128075781 128075781 T G SNP MAP3K2 ENST00000344908 human ensembl 74_37 -1 known missense c.1158 p.Q386H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K2 HGNC ENSG00000169967 tier1 - - 76 0 0.00 73 5 6.41 MAP3K2 0 genome.wustl.edu 37 2 128075781 128075781 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 128075781 128075781 T G SNP MAP3K2 ENST00000344908 human ensembl 74_37 -1 known missense c.1158 p.Q386H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K2 HGNC ENSG00000169967 tier1 - - 96 0 0.00 73 5 6.41 MAP3K4 0 genome.wustl.edu 37 6 161470381 161470381 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 161470381 161470381 G T SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.1077 p.E359D 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 MAP3K4 HGNC ENSG00000085511 tier1 - - 46 0 0.00 47 4 7.84 MAP3K4 0 genome.wustl.edu 37 6 161470381 161470381 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 161470381 161470381 G T SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.1077 p.E359D 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 MAP3K4 HGNC ENSG00000085511 tier1 - - 91 0 0.00 47 4 7.84 MAPKAPK5 0 genome.wustl.edu 37 12 112321523 112321523 + Nonsense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 112321523 112321523 G T SNP MAPKAPK5 ENST00000551404 human ensembl 74_37 +1 known nonsense c.799 p.E267* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPKAPK5 HGNC ENSG00000089022 106 0 0.00 52 3 5.45 MARC2 0 genome.wustl.edu 37 1 220953534 220953534 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 220953534 220953534 A G SNP MARC2 ENST00000366913 human ensembl 74_37 +1 known silent c.837 p.P279 0.917 pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom pfam_MOSC_N,pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom - no_errors MARC2 HGNC ENSG00000117791 93 0 0.00 71 4 5.33 MBD6 0 genome.wustl.edu 37 12 57920760 57920760 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 57920760 57920760 T G SNP MBD6 ENST00000355673 human ensembl 74_37 +1 known missense c.1832 p.L611R 0.701 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 72 0 0.00 40 6 13.04 MCF2L2 0 genome.wustl.edu 37 3 183097179 183097179 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 183097179 183097179 C T SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known missense c.181 p.A61T 0.997 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 tier1 - - 89 0 0.00 53 21 27.63 MCF2L2 0 genome.wustl.edu 37 3 183097179 183097179 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 183097179 183097179 C T SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known missense c.181 p.A61T 0.997 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 tier1 - - 91 0 0.00 53 21 27.63 MCM4 0 genome.wustl.edu 37 8 48882478 48882478 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 48882478 48882478 T G SNP MCM4 ENST00000262105 human ensembl 74_37 +1 known missense c.1295 p.L432R 0.989 smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 tier1 - - 126 0 0.00 81 11 11.96 MCM4 0 genome.wustl.edu 37 8 48882478 48882478 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 48882478 48882478 T G SNP MCM4 ENST00000262105 human ensembl 74_37 +1 known missense c.1295 p.L432R 0.989 smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 tier1 - - 86 0 0.00 81 11 11.96 MECP2 0 genome.wustl.edu 37 X 153296571 153296571 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 153296571 153296571 C A SNP MECP2 ENST00000303391 human ensembl 74_37 -1 known silent c.708 p.G236 0.730 superfamily_Ig_E-set,pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 tier1 - - 68 0 0.00 63 17 21.25 MECP2 0 genome.wustl.edu 37 X 153296571 153296571 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 153296571 153296571 C A SNP MECP2 ENST00000303391 human ensembl 74_37 -1 known silent c.708 p.G236 0.730 superfamily_Ig_E-set,pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 tier1 - - 75 0 0.00 63 17 21.25 MED12L 0 genome.wustl.edu 37 3 151082990 151082990 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 151082990 151082990 G A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.3076 p.G1026S 0.996 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 30 0 0.00 22 3 12.00 MED14 0 genome.wustl.edu 37 X 40523690 40523690 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 40523690 40523690 G A SNP MED14 ENST00000324817 human ensembl 74_37 -1 known missense c.3317 p.A1106V 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 tier1 - - 36 0 0.00 26 19 42.22 MEI1 0 genome.wustl.edu 37 22 42180705 42180705 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 42180705 42180705 C A SNP MEI1 ENST00000401548 human ensembl 74_37 +1 known missense c.3263 p.A1088D 0.001 NULL superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 tier1 - - 60 0 0.00 28 6 17.65 MEI1 0 genome.wustl.edu 37 22 42180705 42180705 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 42180705 42180705 C A SNP MEI1 ENST00000401548 human ensembl 74_37 +1 known missense c.3263 p.A1088D 0.001 NULL superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 tier1 - - 72 0 0.00 28 6 17.65 MET 0 genome.wustl.edu 37 7 116422132 116422132 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 116422132 116422132 T C SNP MET ENST00000318493 human ensembl 74_37 +1 known silent c.3667 p.L1223 1.000 pirsf_Tyr_kinase_HGF/MSP_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_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 tier1 - - 29 0 0.00 47 4 7.84 MET 0 genome.wustl.edu 37 7 116422132 116422132 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 116422132 116422132 T C SNP MET ENST00000318493 human ensembl 74_37 +1 known silent c.3667 p.L1223 1.000 pirsf_Tyr_kinase_HGF/MSP_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_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 tier1 - - 46 0 0.00 47 4 7.84 METTL13 0 genome.wustl.edu 37 1 171763613 171763613 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 171763613 171763613 G T SNP METTL13 ENST00000361735 human ensembl 74_37 +1 known missense c.1771 p.A591S 1.000 pfam_Spermidine/spermine_synthase pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 tier1 - - 75 0 0.00 68 4 5.56 METTL13 0 genome.wustl.edu 37 1 171763613 171763613 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 171763613 171763613 G T SNP METTL13 ENST00000361735 human ensembl 74_37 +1 known missense c.1771 p.A591S 1.000 pfam_Spermidine/spermine_synthase pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 tier1 - - 80 0 0.00 68 4 5.56 MFI2 0 genome.wustl.edu 37 3 196753571 196753571 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 196753571 196753571 C T SNP MFI2 ENST00000296350 human ensembl 74_37 -1 known silent c.264 p.E88 0.012 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors MFI2 HGNC ENSG00000163975 tier1 - - 44 0 0.00 22 9 29.03 MFI2 0 genome.wustl.edu 37 3 196753571 196753571 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 196753571 196753571 C T SNP MFI2 ENST00000296350 human ensembl 74_37 -1 known silent c.264 p.E88 0.012 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors MFI2 HGNC ENSG00000163975 tier1 - - 62 0 0.00 22 9 29.03 MFSD8 0 genome.wustl.edu 37 4 128886250 128886250 + Silent SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 128886250 128886250 G C SNP MFSD8 ENST00000296468 human ensembl 74_37 -1 known silent c.39 p.L13 0.007 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD8 HGNC ENSG00000164073 tier1 - - 118 0 0.00 60 5 7.69 MFSD8 0 genome.wustl.edu 37 4 128886250 128886250 + Silent SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 128886250 128886250 G C SNP MFSD8 ENST00000296468 human ensembl 74_37 -1 known silent c.39 p.L13 0.007 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD8 HGNC ENSG00000164073 tier1 - - 127 0 0.00 60 5 7.69 MIA3 0 genome.wustl.edu 37 1 222803001 222803001 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 222803001 222803001 A C SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known missense c.2439 p.E813D 0.000 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 tier1 - - 54 0 0.00 49 5 9.26 MIA3 0 genome.wustl.edu 37 1 222803001 222803001 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 222803001 222803001 A C SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known missense c.2439 p.E813D 0.000 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 tier1 - - 62 0 0.00 49 5 9.26 MICAL2 0 genome.wustl.edu 37 11 12247834 12247834 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 12247834 12247834 C T SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.1805 p.A602V 0.023 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 tier1 - - 53 0 0.00 45 4 8.16 MICAL2 0 genome.wustl.edu 37 11 12247834 12247834 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 12247834 12247834 C T SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.1805 p.A602V 0.023 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 tier1 - - 73 0 0.00 45 4 8.16 MIER2 0 genome.wustl.edu 37 19 308609 308609 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 308609 308609 G A SNP MIER2 ENST00000264819 human ensembl 74_37 -1 known missense c.1166 p.P389L 0.020 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER2 HGNC ENSG00000105556 tier1 - - 130 0 0.00 82 5 5.75 MIER2 0 genome.wustl.edu 37 19 308609 308609 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 308609 308609 G A SNP MIER2 ENST00000264819 human ensembl 74_37 -1 known missense c.1166 p.P389L 0.020 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER2 HGNC ENSG00000105556 tier1 - - 141 0 0.00 82 5 5.75 MIR516A1 0 genome.wustl.edu 37 19 54259997 54259997 + RNA SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 54259997 54259997 T C SNP MIR516A1 ENST00000385033 human ensembl 74_37 +1 known rna NULL NULL 0.149 - - - no_errors MIR516A1 HGNC ENSG00000207767 tier1 - - 116 0 0.00 59 30 33.71 MIR516A1 0 genome.wustl.edu 37 19 54259997 54259997 + RNA SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 54259997 54259997 T C SNP MIR516A1 ENST00000385033 human ensembl 74_37 +1 known rna NULL NULL 0.149 - - - no_errors MIR516A1 HGNC ENSG00000207767 tier1 - - 150 0 0.00 59 30 33.71 MIR548X 0 genome.wustl.edu 37 21 20058469 20058469 + RNA SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 21 20058469 20058469 T G SNP MIR548X ENST00000580069 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors MIR548X HGNC ENSG00000265841 tier1 - - 40 0 0.00 47 21 30.88 MIR548X 0 genome.wustl.edu 37 21 20058469 20058469 + RNA SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 21 20058469 20058469 T G SNP MIR548X ENST00000580069 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors MIR548X HGNC ENSG00000265841 tier1 - - 52 0 0.00 47 21 30.88 MLF1 0 genome.wustl.edu 37 3 158288991 158288991 + RNA SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 158288991 158288991 C T SNP MLF1 ENST00000497004 human ensembl 74_37 +1 known rna NULL NULL 0.617 - - - no_errors MLF1 HGNC ENSG00000178053 tier1 - - 38 0 0.00 35 5 12.20 MMRN2 0 genome.wustl.edu 37 10 88717281 88717281 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 88717281 88717281 C T SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known silent c.18 p.L6 0.532 NULL pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 tier1 - - 36 0 0.00 27 7 20.59 MMRN2 0 genome.wustl.edu 37 10 88717281 88717281 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 88717281 88717281 C T SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known silent c.18 p.L6 0.532 NULL pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 tier1 - - 42 0 0.00 27 7 20.59 MMS19 0 genome.wustl.edu 37 10 99225566 99225566 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 99225566 99225566 G T SNP MMS19 ENST00000370782 human ensembl 74_37 -1 known missense c.1752 p.N584K 1.000 superfamily_ARM-type_fold pfam_Tscrpt_C,superfamily_ARM-type_fold - no_errors MMS19 HGNC ENSG00000155229 tier1 - - 47 0 0.00 45 4 8.16 MMS19 0 genome.wustl.edu 37 10 99225566 99225566 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 99225566 99225566 G T SNP MMS19 ENST00000370782 human ensembl 74_37 -1 known missense c.1752 p.N584K 1.000 superfamily_ARM-type_fold pfam_Tscrpt_C,superfamily_ARM-type_fold - no_errors MMS19 HGNC ENSG00000155229 tier1 - - 55 0 0.00 45 4 8.16 MMS19 0 genome.wustl.edu 37 10 99225902 99225902 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 99225902 99225902 A T SNP MMS19 ENST00000370782 human ensembl 74_37 -1 known missense c.1520 p.L507Q 1.000 superfamily_ARM-type_fold pfam_Tscrpt_C,superfamily_ARM-type_fold - no_errors MMS19 HGNC ENSG00000155229 tier1 - - 21 0 0.00 11 4 26.67 MMS19 0 genome.wustl.edu 37 10 99225902 99225902 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 99225902 99225902 A T SNP MMS19 ENST00000370782 human ensembl 74_37 -1 known missense c.1520 p.L507Q 1.000 superfamily_ARM-type_fold pfam_Tscrpt_C,superfamily_ARM-type_fold - no_errors MMS19 HGNC ENSG00000155229 tier1 - - 25 0 0.00 11 4 26.67 MOAP1 0 genome.wustl.edu 37 14 93650010 93650010 + Frame_Shift_Del DEL T T - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 93650010 93650010 T - DEL MOAP1 ENST00000298894 human ensembl 74_37 -1 known frame_shift_del c.578 p.K193fs 0.127 NULL NULL - no_errors MOAP1 HGNC ENSG00000165943 tier1 46 0 0.00 11 2 15.38 MOXD1 0 genome.wustl.edu 37 6 132618392 132618392 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 132618392 132618392 C A SNP MOXD1 ENST00000367963 human ensembl 74_37 -1 known missense c.1742 p.C581F 0.923 NULL pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors MOXD1 HGNC ENSG00000079931 tier1 - - 103 0 0.00 59 6 9.23 MOXD1 0 genome.wustl.edu 37 6 132618392 132618392 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 132618392 132618392 C A SNP MOXD1 ENST00000367963 human ensembl 74_37 -1 known missense c.1742 p.C581F 0.923 NULL pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors MOXD1 HGNC ENSG00000079931 tier1 - - 82 0 0.00 59 6 9.23 MPDZ 0 genome.wustl.edu 37 9 13219624 13219624 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 13219624 13219624 T G SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.1020 p.E340D 0.669 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 tier1 - - 81 0 0.00 41 26 38.81 MPDZ 0 genome.wustl.edu 37 9 13219624 13219624 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 13219624 13219624 T G SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.1020 p.E340D 0.669 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 tier1 - - 94 0 0.00 41 26 38.81 MROH6 0 genome.wustl.edu 37 8 144654593 144654593 + Nonsense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 144654593 144654593 G A SNP MROH6 ENST00000398882 human ensembl 74_37 -1 known nonsense c.292 p.Q98* 0.668 NULL superfamily_ARM-type_fold - no_errors MROH6 HGNC ENSG00000204839 tier1 - - 150 0 0.00 56 74 56.92 MROH6 0 genome.wustl.edu 37 8 144654593 144654593 + Nonsense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 144654593 144654593 G A SNP MROH6 ENST00000398882 human ensembl 74_37 -1 known nonsense c.292 p.Q98* 0.668 NULL superfamily_ARM-type_fold - no_errors MROH6 HGNC ENSG00000204839 tier1 - - 208 0 0.00 56 74 56.92 MS4A14 0 genome.wustl.edu 37 11 60183454 60183454 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 60183454 60183454 A C SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.1013 p.K338T 0.000 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 39 0 0.00 34 4 10.53 MSH4 0 genome.wustl.edu 37 1 76288110 76288110 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 76288110 76288110 T C SNP MSH4 ENST00000263187 human ensembl 74_37 +1 known missense c.1006 p.F336L 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,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 - no_errors MSH4 HGNC ENSG00000057468 85 0 0.00 46 4 8.00 MTPAP 0 genome.wustl.edu 37 10 30662712 30662712 + RNA SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 30662712 30662712 C G SNP MTPAP ENST00000471055 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors MTPAP HGNC ENSG00000107951 tier1 - - 33 0 0.00 20 4 16.67 MTPAP 0 genome.wustl.edu 37 10 30662712 30662712 + RNA SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 30662712 30662712 C G SNP MTPAP ENST00000471055 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors MTPAP HGNC ENSG00000107951 tier1 - - 34 0 0.00 20 4 16.67 MUC12 0 genome.wustl.edu 37 7 100634420 100634420 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 100634420 100634420 A C SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.576 p.E192D 0.001 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 157 0 0.00 296 46 13.45 MUC12 0 genome.wustl.edu 37 7 100634420 100634420 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 100634420 100634420 A C SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.576 p.E192D 0.001 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 184 0 0.00 296 46 13.45 MUC16 0 genome.wustl.edu 37 19 9046663 9046663 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 9046663 9046663 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.34968 p.P11656 0.011 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 204 0 0.00 49 5 9.26 MUC16 0 genome.wustl.edu 37 19 9046663 9046663 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 9046663 9046663 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.34968 p.P11656 0.011 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 238 0 0.00 49 5 9.26 MUC16 0 genome.wustl.edu 37 19 9073947 9073947 + Frame_Shift_Del DEL C C - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 9073947 9073947 C - DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_del c.13499 p.S4500fs 0.024 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 52 0 0.00 44 7 13.73 MUC16 0 genome.wustl.edu 37 19 9073947 9073947 + Frame_Shift_Del DEL C C - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 9073947 9073947 C - DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_del c.13499 p.S4500fs 0.024 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 59 0 0.00 44 7 13.73 MUC16 0 genome.wustl.edu 37 19 9075129 9075129 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 9075129 9075129 C G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.12317 p.S4106T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 35 0 0.00 41 10 19.61 MUC16 0 genome.wustl.edu 37 19 9075129 9075129 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 9075129 9075129 C G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.12317 p.S4106T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 72 0 0.00 41 10 19.61 MUC16 0 genome.wustl.edu 37 19 9083064 9083064 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 9083064 9083064 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.8751 p.I2917M 0.004 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 58 0 0.00 35 4 10.26 MUC16 0 genome.wustl.edu 37 19 9089101 9089101 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 9089101 9089101 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.2714 p.P905H 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 72 0 0.00 43 3 6.52 MUC5B 0 genome.wustl.edu 37 11 1274134 1274134 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 1274134 1274134 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.15150 p.V5050 0.006 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 77 0 0.00 37 18 32.73 MUC5B 0 genome.wustl.edu 37 11 1274134 1274134 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 1274134 1274134 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.15150 p.V5050 0.006 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 87 0 0.00 37 18 32.73 MXRA5 0 genome.wustl.edu 37 X 3240213 3240213 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 3240213 3240213 G T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.3513 p.P1171 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 tier1 - - 20 0 0.00 34 6 15.00 MXRA5 0 genome.wustl.edu 37 X 3240213 3240213 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 3240213 3240213 G T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.3513 p.P1171 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 tier1 - - 35 0 0.00 34 6 15.00 MXRA5 0 genome.wustl.edu 37 X 3240217 3240217 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 3240217 3240217 G T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.3509 p.P1170Q 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 tier1 - - 24 0 0.00 34 7 17.07 MXRA5 0 genome.wustl.edu 37 X 3240217 3240217 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 3240217 3240217 G T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.3509 p.P1170Q 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 tier1 - - 37 0 0.00 34 7 17.07 MYBPC3 0 genome.wustl.edu 37 11 47364601 47364601 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 47364601 47364601 T C SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known missense c.1322 p.E441G 1.000 smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 tier1 - - 78 0 0.00 32 9 21.95 MYBPC3 0 genome.wustl.edu 37 11 47364601 47364601 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 47364601 47364601 T C SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known missense c.1322 p.E441G 1.000 smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 tier1 - - 86 0 0.00 32 9 21.95 MYH1 0 genome.wustl.edu 37 17 10399820 10399820 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 10399820 10399820 T G SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.4703 p.E1568A 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 tier1 - - 52 0 0.00 53 13 19.70 MYH1 0 genome.wustl.edu 37 17 10399820 10399820 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 10399820 10399820 T G SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.4703 p.E1568A 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 tier1 - - 74 0 0.00 53 13 19.70 MYH7 0 genome.wustl.edu 37 14 23885406 23885406 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 23885406 23885406 T G SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.4760 p.K1587T 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 - - 53 0 0.00 16 10 38.46 MYH7 0 genome.wustl.edu 37 14 23885406 23885406 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 23885406 23885406 T G SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.4760 p.K1587T 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 - - 55 0 0.00 16 10 38.46 MYO3A 0 genome.wustl.edu 37 10 26462760 26462760 + Frame_Shift_Del DEL A A - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 26462760 26462760 A - DEL MYO3A ENST00000265944 human ensembl 74_37 +1 known frame_shift_del c.3567 p.M1192fs 0.509 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 tier1 42 0 0.00 46 20 30.30 MYO3A 0 genome.wustl.edu 37 10 26462760 26462760 + Frame_Shift_Del DEL A A - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 26462760 26462760 A - DEL MYO3A ENST00000265944 human ensembl 74_37 +1 known frame_shift_del c.3567 p.M1192fs 0.509 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 tier1 67 0 0.00 46 20 30.30 NAA16 0 genome.wustl.edu 37 13 41949637 41949637 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 13 41949637 41949637 C T SNP NAA16 ENST00000379406 human ensembl 74_37 +1 known missense c.2494 p.P832S 1.000 NULL pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 tier1 - - 54 0 0.00 59 4 6.25 NAA16 0 genome.wustl.edu 37 13 41949637 41949637 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 13 41949637 41949637 C T SNP NAA16 ENST00000379406 human ensembl 74_37 +1 known missense c.2494 p.P832S 1.000 NULL pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 tier1 - - 79 0 0.00 59 4 6.25 NAV2 0 genome.wustl.edu 37 11 20005691 20005691 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 20005691 20005691 T G SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.2735 p.L912R 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 tier1 - - 85 0 0.00 28 13 31.71 NAV2 0 genome.wustl.edu 37 11 20005691 20005691 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 20005691 20005691 T G SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.2735 p.L912R 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 tier1 - - 99 0 0.00 28 13 31.71 NBAS 0 genome.wustl.edu 37 2 15615819 15615819 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 15615819 15615819 T A SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.1333 p.S445C 1.000 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 tier1 - - 113 0 0.00 63 16 20.25 NBAS 0 genome.wustl.edu 37 2 15615819 15615819 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 15615819 15615819 T A SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.1333 p.S445C 1.000 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 tier1 - - 80 0 0.00 63 16 20.25 NBN 0 genome.wustl.edu 37 8 90983510 90983510 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 90983510 90983510 G T SNP NBN ENST00000265433 human ensembl 74_37 -1 known missense c.593 p.P198Q 1.000 pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 tier1 - - 59 0 0.00 86 5 5.49 NBPF10 0 genome.wustl.edu 37 1 145354324 145354324 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 145354324 145354324 G A SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known missense c.8252 p.G2751E 0.022 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 tier1 - - 11 0 0.00 16 6 27.27 NCKAP1L 0 genome.wustl.edu 37 12 54910699 54910699 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 54910699 54910699 C T SNP NCKAP1L ENST00000293373 human ensembl 74_37 +1 known missense c.1018 p.R340W 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 tier1 - - 124 0 0.00 73 26 26.26 NDST3 0 genome.wustl.edu 37 4 119036076 119036076 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 119036076 119036076 T C SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known silent c.1185 p.S395 0.138 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 tier1 - - 216 0 0.00 141 40 22.10 NDST3 0 genome.wustl.edu 37 4 119036076 119036076 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 119036076 119036076 T C SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known silent c.1185 p.S395 0.138 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 tier1 - - 294 0 0.00 141 40 22.10 NELL1 0 genome.wustl.edu 37 11 20948936 20948936 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 20948936 20948936 G T SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known missense c.842 p.R281L 1.000 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 88 0 0.00 72 4 5.26 NEO1 0 genome.wustl.edu 37 15 73566202 73566202 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 73566202 73566202 G A SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known missense c.3016 p.V1006I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NEO1 HGNC ENSG00000067141 tier1 - - 45 0 0.00 35 9 20.45 NEO1 0 genome.wustl.edu 37 15 73566202 73566202 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 73566202 73566202 G A SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known missense c.3016 p.V1006I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NEO1 HGNC ENSG00000067141 tier1 - - 68 0 0.00 35 9 20.45 NEO1 0 genome.wustl.edu 37 15 73580673 73580673 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 73580673 73580673 T A SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known missense c.3430 p.S1144T 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NEO1 HGNC ENSG00000067141 tier1 - - 94 0 0.00 42 9 17.65 NEO1 0 genome.wustl.edu 37 15 73580673 73580673 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 73580673 73580673 T A SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known missense c.3430 p.S1144T 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NEO1 HGNC ENSG00000067141 tier1 - - 95 0 0.00 42 9 17.65 NEUROD4 0 genome.wustl.edu 37 12 55420233 55420233 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 55420233 55420233 A C SNP NEUROD4 ENST00000242994 human ensembl 74_37 +1 known missense c.10 p.T4P 0.166 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD4 HGNC ENSG00000123307 tier1 - - 123 0 0.00 79 28 26.17 NEUROD4 0 genome.wustl.edu 37 12 55420233 55420233 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 55420233 55420233 A C SNP NEUROD4 ENST00000242994 human ensembl 74_37 +1 known missense c.10 p.T4P 0.166 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD4 HGNC ENSG00000123307 tier1 - - 77 0 0.00 79 28 26.17 NFIB 0 genome.wustl.edu 37 9 14125636 14125636 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 14125636 14125636 T A SNP NFIB ENST00000397581 human ensembl 74_37 -1 known missense c.1055 p.H352L 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIB HGNC ENSG00000147862 tier1 - - 146 0 0.00 63 4 5.97 NFIB 0 genome.wustl.edu 37 9 14125636 14125636 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 14125636 14125636 T A SNP NFIB ENST00000397581 human ensembl 74_37 -1 known missense c.1055 p.H352L 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIB HGNC ENSG00000147862 tier1 - - 89 0 0.00 63 4 5.97 NFXL1 0 genome.wustl.edu 37 4 47857176 47857176 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 47857176 47857176 G T SNP NFXL1 ENST00000381538 human ensembl 74_37 -1 known missense c.2321 p.P774H 1.000 NULL pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING - no_errors NFXL1 HGNC ENSG00000170448 tier1 - - 36 0 0.00 49 4 7.55 NHS 0 genome.wustl.edu 37 X 17746822 17746822 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 17746822 17746822 G T SNP NHS ENST00000380060 human ensembl 74_37 +1 known missense c.4213 p.A1405S 0.994 NULL NULL - no_errors NHS HGNC ENSG00000188158 tier1 - - 42 0 0.00 33 4 10.81 NHSL2 0 genome.wustl.edu 37 X 71363114 71363114 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 71363114 71363114 A C SNP NHSL2 ENST00000540800 human ensembl 74_37 +1 known missense c.3368 p.K1123T 1.000 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 67 0 0.00 67 4 5.63 NIPAL2 0 genome.wustl.edu 37 8 99205159 99205159 + RNA SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 99205159 99205159 A T SNP NIPAL2 ENST00000520545 human ensembl 74_37 -1 known rna NULL NULL 0.825 - - - no_errors NIPAL2 HGNC ENSG00000104361 tier1 - - 58 0 0.00 51 6 10.53 NIPAL2 0 genome.wustl.edu 37 8 99205159 99205159 + RNA SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 99205159 99205159 A T SNP NIPAL2 ENST00000520545 human ensembl 74_37 -1 known rna NULL NULL 0.825 - - - no_errors NIPAL2 HGNC ENSG00000104361 tier1 - - 89 0 0.00 51 6 10.53 NIPBL 0 genome.wustl.edu 37 5 37006532 37006532 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 37006532 37006532 C T SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.3929 p.A1310V 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 tier1 - - 53 0 0.00 52 4 7.14 NIPBL 0 genome.wustl.edu 37 5 37006532 37006532 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 37006532 37006532 C T SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.3929 p.A1310V 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 tier1 - - 96 0 0.00 52 4 7.14 NKX3-2 0 genome.wustl.edu 37 4 13544075 13544075 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 13544075 13544075 C T SNP NKX3-2 ENST00000382438 human ensembl 74_37 -1 known missense c.544 p.G182S 0.015 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX3-2 HGNC ENSG00000109705 tier1 - - 37 0 0.00 18 14 43.75 NKX3-2 0 genome.wustl.edu 37 4 13544075 13544075 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 13544075 13544075 C T SNP NKX3-2 ENST00000382438 human ensembl 74_37 -1 known missense c.544 p.G182S 0.015 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX3-2 HGNC ENSG00000109705 tier1 - - 45 0 0.00 18 14 43.75 NLRP13 0 genome.wustl.edu 37 19 56443411 56443411 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 56443411 56443411 G T SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known missense c.267 p.F89L 0.000 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 58 0 0.00 35 2 5.41 NME8 0 genome.wustl.edu 37 7 37890011 37890011 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 37890011 37890011 A T SNP NME8 ENST00000199447 human ensembl 74_37 +1 known missense c.65 p.E22V 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 tier1 - - 80 0 0.00 58 29 32.95 NME8 0 genome.wustl.edu 37 7 37890011 37890011 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 37890011 37890011 A T SNP NME8 ENST00000199447 human ensembl 74_37 +1 known missense c.65 p.E22V 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 tier1 - - 97 0 0.00 58 29 32.95 NOMO2 0 genome.wustl.edu 37 16 18549921 18549921 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 18549921 18549921 G T SNP NOMO2 ENST00000381474 human ensembl 74_37 -1 known missense c.1147 p.H383N 1.000 pfam_DUF2012,superfamily_Carb-bd-like_fold pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO2 HGNC ENSG00000185164 162 0 0.00 91 8 8.00 NOP16 0 genome.wustl.edu 37 5 175813851 175813851 + Nonsense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 175813851 175813851 A T SNP NOP16 ENST00000389158 human ensembl 74_37 -1 known nonsense c.276 p.Y92* 1.000 pfam_Ribosome_biogenesis_Nop16 pfam_Ribosome_biogenesis_Nop16 - no_errors NOP16 HGNC ENSG00000048162 tier1 - - 120 0 0.00 35 15 30.00 NOP16 0 genome.wustl.edu 37 5 175813851 175813851 + Nonsense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 175813851 175813851 A T SNP NOP16 ENST00000389158 human ensembl 74_37 -1 known nonsense c.276 p.Y92* 1.000 pfam_Ribosome_biogenesis_Nop16 pfam_Ribosome_biogenesis_Nop16 - no_errors NOP16 HGNC ENSG00000048162 tier1 - - 75 0 0.00 35 15 30.00 NOSTRIN 0 genome.wustl.edu 37 2 169707381 169707381 + Silent SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 169707381 169707381 C G SNP NOSTRIN ENST00000444448 human ensembl 74_37 +1 known silent c.666 p.V222 0.001 NULL pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors NOSTRIN HGNC ENSG00000163072 tier1 - - 37 0 0.00 37 6 13.95 NOSTRIN 0 genome.wustl.edu 37 2 169707381 169707381 + Silent SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 169707381 169707381 C G SNP NOSTRIN ENST00000444448 human ensembl 74_37 +1 known silent c.666 p.V222 0.001 NULL pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors NOSTRIN HGNC ENSG00000163072 tier1 - - 46 0 0.00 37 6 13.95 NOTO 0 genome.wustl.edu 37 2 73435556 73435556 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 73435556 73435556 C A SNP NOTO ENST00000398468 human ensembl 74_37 +1 known silent c.411 p.L137 0.027 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NOTO HGNC ENSG00000214513 tier1 - - 69 0 0.00 43 10 18.87 NPL 0 genome.wustl.edu 37 1 182787987 182787987 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 182787987 182787987 G T SNP NPL ENST00000258317 human ensembl 74_37 +1 known missense c.646 p.V216L 1.000 pfam_DapA-like pfam_DapA-like,prints_DapA-like - no_errors NPL HGNC ENSG00000135838 tier1 - - 28 0 0.00 44 4 8.33 NPL 0 genome.wustl.edu 37 1 182787987 182787987 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 182787987 182787987 G T SNP NPL ENST00000258317 human ensembl 74_37 +1 known missense c.646 p.V216L 1.000 pfam_DapA-like pfam_DapA-like,prints_DapA-like - no_errors NPL HGNC ENSG00000135838 tier1 - - 60 0 0.00 44 4 8.33 NR4A3 0 genome.wustl.edu 37 9 102625911 102625911 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 102625911 102625911 G T SNP NR4A3 ENST00000330847 human ensembl 74_37 +1 known missense c.1676 p.G559V 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A3 HGNC ENSG00000119508 tier1 - - 41 0 0.00 27 3 10.00 NR4A3 0 genome.wustl.edu 37 9 102625911 102625911 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 102625911 102625911 G T SNP NR4A3 ENST00000330847 human ensembl 74_37 +1 known missense c.1676 p.G559V 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A3 HGNC ENSG00000119508 tier1 - - 54 0 0.00 27 3 10.00 NRXN1 0 genome.wustl.edu 37 2 50779946 50779946 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 50779946 50779946 G C SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.1514 p.P505R 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 46 0 0.00 42 4 8.70 NRXN1 0 genome.wustl.edu 37 2 50779946 50779946 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 50779946 50779946 G C SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.1514 p.P505R 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 57 0 0.00 42 4 8.70 NSA2 0 genome.wustl.edu 37 5 74065074 74065074 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 74065074 74065074 A G SNP NSA2 ENST00000296802 human ensembl 74_37 +1 known missense c.227 p.K76R 1.000 pfam_Ribosomal_S8e/biogenesis_NSA2 pfam_Ribosomal_S8e/biogenesis_NSA2 - no_errors NSA2 HGNC ENSG00000164346 tier1 - - 32 0 0.00 44 10 18.52 NSA2 0 genome.wustl.edu 37 5 74065074 74065074 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 74065074 74065074 A G SNP NSA2 ENST00000296802 human ensembl 74_37 +1 known missense c.227 p.K76R 1.000 pfam_Ribosomal_S8e/biogenesis_NSA2 pfam_Ribosomal_S8e/biogenesis_NSA2 - no_errors NSA2 HGNC ENSG00000164346 tier1 - - 57 0 0.00 44 10 18.52 NUP210 0 genome.wustl.edu 37 3 13363225 13363225 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 13363225 13363225 A C SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.5026 p.F1676V 0.606 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 tier1 - - 36 0 0.00 30 11 26.83 NUP210 0 genome.wustl.edu 37 3 13363225 13363225 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 13363225 13363225 A C SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.5026 p.F1676V 0.606 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 tier1 - - 52 0 0.00 30 11 26.83 NUP98 0 genome.wustl.edu 37 11 3744539 3744539 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 3744539 3744539 T C SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.1994 p.N665S 0.016 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 tier1 - - 102 0 0.00 42 8 16.00 NUP98 0 genome.wustl.edu 37 11 3744539 3744539 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 3744539 3744539 T C SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.1994 p.N665S 0.016 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 tier1 - - 59 0 0.00 42 8 16.00 NUSAP1 0 genome.wustl.edu 37 15 41625228 41625228 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 41625228 41625228 G T SNP NUSAP1 ENST00000559596 human ensembl 74_37 +1 known missense c.73 p.G25C 1.000 NULL NULL - no_errors NUSAP1 HGNC ENSG00000137804 79 0 0.00 62 4 6.06 OAS1 0 genome.wustl.edu 37 12 113354384 113354384 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 113354384 113354384 G C SNP OAS1 ENST00000445409 human ensembl 74_37 +1 known missense c.725 p.R242P 0.000 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC ENSG00000089127 tier1 - - 108 0 0.00 61 21 25.61 OAS1 0 genome.wustl.edu 37 12 113354384 113354384 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 113354384 113354384 G C SNP OAS1 ENST00000445409 human ensembl 74_37 +1 known missense c.725 p.R242P 0.000 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC ENSG00000089127 tier1 - - 87 0 0.00 61 21 25.61 OAT 0 genome.wustl.edu 37 10 126094007 126094007 + Nonsense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 126094007 126094007 C A SNP OAT ENST00000368845 human ensembl 74_37 -1 known nonsense c.646 p.E216* 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans - no_errors OAT HGNC ENSG00000065154 tier1 - - 62 0 0.00 56 4 6.67 OAT 0 genome.wustl.edu 37 10 126094007 126094007 + Nonsense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 126094007 126094007 C A SNP OAT ENST00000368845 human ensembl 74_37 -1 known nonsense c.646 p.E216* 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans - no_errors OAT HGNC ENSG00000065154 tier1 - - 91 0 0.00 56 4 6.67 OCLN 0 genome.wustl.edu 37 5 68849595 68849595 + RNA SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 68849595 68849595 A T SNP OCLN ENST00000514370 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors OCLN HGNC ENSG00000197822 tier1 - - 122 0 0.00 84 10 10.64 OCLN 0 genome.wustl.edu 37 5 68849595 68849595 + RNA SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 68849595 68849595 A T SNP OCLN ENST00000514370 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors OCLN HGNC ENSG00000197822 tier1 - - 90 0 0.00 84 10 10.64 OLFM1 0 genome.wustl.edu 37 9 138011558 138011558 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 138011558 138011558 T A SNP OLFM1 ENST00000371793 human ensembl 74_37 +1 known missense c.992 p.L331H 1.000 pfam_Olfac-like,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM1 HGNC ENSG00000130558 tier1 - - 41 0 0.00 30 9 23.08 OLFM1 0 genome.wustl.edu 37 9 138011558 138011558 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 138011558 138011558 T A SNP OLFM1 ENST00000371793 human ensembl 74_37 +1 known missense c.992 p.L331H 1.000 pfam_Olfac-like,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM1 HGNC ENSG00000130558 tier1 - - 52 0 0.00 30 9 23.08 OLFM3 0 genome.wustl.edu 37 1 102269549 102269549 + RNA DEL T T - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 102269549 102269549 T - DEL OLFM3 ENST00000462354 human ensembl 74_37 -1 known rna NULL NULL 0.475 - - - no_errors OLFM3 HGNC ENSG00000118733 tier1 10 0 0.00 19 8 29.63 OPTN 0 genome.wustl.edu 37 10 13161018 13161018 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 13161018 13161018 G A SNP OPTN ENST00000263036 human ensembl 74_37 +1 known missense c.757 p.A253T 0.222 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 tier1 - - 78 0 0.00 72 4 5.26 OPTN 0 genome.wustl.edu 37 10 13161018 13161018 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 13161018 13161018 G A SNP OPTN ENST00000263036 human ensembl 74_37 +1 known missense c.757 p.A253T 0.222 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 tier1 - - 87 0 0.00 72 4 5.26 OR10J3 0 genome.wustl.edu 37 1 159284376 159284376 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 159284376 159284376 T C SNP OR10J3 ENST00000332217 human ensembl 74_37 -1 known missense c.74 p.K25R 0.062 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J3 HGNC ENSG00000196266 tier1 - - 60 0 0.00 43 9 17.31 OR14A2 0 genome.wustl.edu 37 1 247886430 247886430 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 247886430 247886430 T C SNP OR14A2 ENST00000366485 human ensembl 74_37 -1 known missense c.916 p.T306A 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14A2 HGNC ENSG00000241128 tier1 - - 67 0 0.00 69 5 6.76 OR14A2 0 genome.wustl.edu 37 1 247886430 247886430 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 247886430 247886430 T C SNP OR14A2 ENST00000366485 human ensembl 74_37 -1 known missense c.916 p.T306A 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14A2 HGNC ENSG00000241128 tier1 - - 97 0 0.00 69 5 6.76 OR2J3 0 genome.wustl.edu 37 6 29080488 29080488 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 29080488 29080488 G A SNP OR2J3 ENST00000377169 human ensembl 74_37 +1 known missense c.821 p.G274D 0.014 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 OR2J3 HGNC ENSG00000204701 tier1 - - 25 0 0.00 35 6 14.63 OR2J3 0 genome.wustl.edu 37 6 29080488 29080488 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 29080488 29080488 G A SNP OR2J3 ENST00000377169 human ensembl 74_37 +1 known missense c.821 p.G274D 0.014 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 OR2J3 HGNC ENSG00000204701 tier1 - - 32 0 0.00 35 6 14.63 OR2K2 0 genome.wustl.edu 37 9 114090461 114090461 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 114090461 114090461 A C SNP OR2K2 ENST00000374428 human ensembl 74_37 -1 known missense c.340 p.L114V 0.982 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2K2 HGNC ENSG00000171133 tier1 - - 23 0 0.00 30 8 21.05 OR2K2 0 genome.wustl.edu 37 9 114090461 114090461 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 114090461 114090461 A C SNP OR2K2 ENST00000374428 human ensembl 74_37 -1 known missense c.340 p.L114V 0.982 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2K2 HGNC ENSG00000171133 tier1 - - 47 0 0.00 30 8 21.05 OR2M2 0 genome.wustl.edu 37 1 248344067 248344067 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 248344067 248344067 A G SNP OR2M2 ENST00000359682 human ensembl 74_37 +1 known missense c.780 p.I260M 0.000 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 OR2M2 HGNC ENSG00000198601 tier1 - - 120 0 0.00 97 16 14.16 OR2T4 0 genome.wustl.edu 37 1 248525601 248525601 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 248525601 248525601 T A SNP OR2T4 ENST00000366475 human ensembl 74_37 +1 known missense c.719 p.L240H 0.082 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 OR2T4 HGNC ENSG00000196944 tier1 - - 170 0 0.00 69 52 42.98 OR2T4 0 genome.wustl.edu 37 1 248525601 248525601 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 248525601 248525601 T A SNP OR2T4 ENST00000366475 human ensembl 74_37 +1 known missense c.719 p.L240H 0.082 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 OR2T4 HGNC ENSG00000196944 tier1 - - 179 0 0.00 69 52 42.98 OR2Z1 0 genome.wustl.edu 37 19 8841919 8841919 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 8841919 8841919 T G SNP OR2Z1 ENST00000324060 human ensembl 74_37 +1 known missense c.529 p.F177V 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2Z1 HGNC ENSG00000181733 tier1 - - 35 0 0.00 13 15 53.57 OR2Z1 0 genome.wustl.edu 37 19 8841919 8841919 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 8841919 8841919 T G SNP OR2Z1 ENST00000324060 human ensembl 74_37 +1 known missense c.529 p.F177V 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2Z1 HGNC ENSG00000181733 tier1 - - 62 0 0.00 13 15 53.57 OR4D6 0 genome.wustl.edu 37 11 59224556 59224556 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 59224556 59224556 A G SNP OR4D6 ENST00000300127 human ensembl 74_37 +1 known silent c.123 p.G41 0.274 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 OR4D6 HGNC ENSG00000166884 tier1 - - 48 0 0.00 46 4 8.00 OR4D6 0 genome.wustl.edu 37 11 59224556 59224556 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 59224556 59224556 A G SNP OR4D6 ENST00000300127 human ensembl 74_37 +1 known silent c.123 p.G41 0.274 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 OR4D6 HGNC ENSG00000166884 tier1 - - 86 0 0.00 46 4 8.00 OR4S2 0 genome.wustl.edu 37 11 55418905 55418905 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 55418905 55418905 T A SNP OR4S2 ENST00000312422 human ensembl 74_37 +1 known missense c.526 p.F176I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S2 HGNC ENSG00000174982 tier1 - - 34 0 0.00 28 8 22.22 OR4S2 0 genome.wustl.edu 37 11 55418905 55418905 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 55418905 55418905 T A SNP OR4S2 ENST00000312422 human ensembl 74_37 +1 known missense c.526 p.F176I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S2 HGNC ENSG00000174982 tier1 - - 41 0 0.00 28 8 22.22 OR52K1 0 genome.wustl.edu 37 11 4510950 4510950 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 4510950 4510950 G T SNP OR52K1 ENST00000307632 human ensembl 74_37 +1 known missense c.820 p.V274F 0.005 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 OR52K1 HGNC ENSG00000196778 tier1 - - 47 0 0.00 28 11 28.21 OR5T2 0 genome.wustl.edu 37 11 56000497 56000497 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 56000497 56000497 G T SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known silent c.165 p.G55 0.464 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 43 0 0.00 23 2 8.00 OR8H3 0 genome.wustl.edu 37 11 55890329 55890329 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 55890329 55890329 G C SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known missense c.481 p.V161L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 tier1 - - 40 0 0.00 34 5 12.82 OR8H3 0 genome.wustl.edu 37 11 55890329 55890329 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 55890329 55890329 G C SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known missense c.481 p.V161L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 tier1 - - 42 0 0.00 34 5 12.82 OR8J1 0 genome.wustl.edu 37 11 56128335 56128335 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 56128335 56128335 A C SNP OR8J1 ENST00000303039 human ensembl 74_37 +1 known missense c.613 p.T205P 0.677 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 OR8J1 HGNC ENSG00000172487 tier1 - - 38 0 0.00 46 14 23.33 OR8J1 0 genome.wustl.edu 37 11 56128335 56128335 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 56128335 56128335 A C SNP OR8J1 ENST00000303039 human ensembl 74_37 +1 known missense c.613 p.T205P 0.677 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 OR8J1 HGNC ENSG00000172487 tier1 - - 60 0 0.00 46 14 23.33 OSBPL6 0 genome.wustl.edu 37 2 179259041 179259041 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 179259041 179259041 T G SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.2587 p.F863V 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 tier1 - - 52 0 0.00 45 8 15.09 OSBPL6 0 genome.wustl.edu 37 2 179259041 179259041 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 179259041 179259041 T G SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.2587 p.F863V 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 tier1 - - 85 0 0.00 45 8 15.09 P2RY1 0 genome.wustl.edu 37 3 152554205 152554205 + Nonsense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 152554205 152554205 C T SNP P2RY1 ENST00000305097 human ensembl 74_37 +1 known nonsense c.634 p.R212* 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y1_rcpt,prints_GPCR_Rhodpsn - no_errors P2RY1 HGNC ENSG00000169860 55 0 0.00 35 2 5.41 PAN3 0 genome.wustl.edu 37 13 28840936 28840936 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 13 28840936 28840936 A C SNP PAN3 ENST00000380958 human ensembl 74_37 +1 known missense c.1496 p.N499T 1.000 superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom - no_errors PAN3 HGNC ENSG00000152520 tier1 - - 59 0 0.00 58 9 13.43 PAN3 0 genome.wustl.edu 37 13 28840936 28840936 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 13 28840936 28840936 A C SNP PAN3 ENST00000380958 human ensembl 74_37 +1 known missense c.1496 p.N499T 1.000 superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom - no_errors PAN3 HGNC ENSG00000152520 tier1 - - 64 0 0.00 58 9 13.43 PAQR5 0 genome.wustl.edu 37 15 69692375 69692375 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 69692375 69692375 G A SNP PAQR5 ENST00000340965 human ensembl 74_37 +1 known missense c.672 p.M224I 0.201 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR5 HGNC ENSG00000137819 tier1 - - 42 0 0.00 26 5 16.13 PAQR5 0 genome.wustl.edu 37 15 69692375 69692375 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 69692375 69692375 G A SNP PAQR5 ENST00000340965 human ensembl 74_37 +1 known missense c.672 p.M224I 0.201 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR5 HGNC ENSG00000137819 tier1 - - 58 0 0.00 26 5 16.13 PARD3 0 genome.wustl.edu 37 10 34601286 34601286 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 34601286 34601286 C T SNP PARD3 ENST00000340077 human ensembl 74_37 -1 known silent c.3090 p.K1030 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 tier1 - - 124 0 0.00 92 14 13.21 PARD3 0 genome.wustl.edu 37 10 34601286 34601286 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 34601286 34601286 C T SNP PARD3 ENST00000340077 human ensembl 74_37 -1 known silent c.3090 p.K1030 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 tier1 - - 94 0 0.00 92 14 13.21 PARP10 0 genome.wustl.edu 37 8 145059731 145059731 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 145059731 145059731 C T SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known silent c.522 p.A174 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 tier1 rs147869775 - 25 0 0.00 22 4 15.38 PARP8 0 genome.wustl.edu 37 5 50093060 50093060 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 50093060 50093060 T G SNP PARP8 ENST00000281631 human ensembl 74_37 +1 known missense c.1568 p.M523R 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 tier1 - - 47 0 0.00 30 5 13.89 PARP8 0 genome.wustl.edu 37 5 50093060 50093060 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 50093060 50093060 T G SNP PARP8 ENST00000281631 human ensembl 74_37 +1 known missense c.1568 p.M523R 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 tier1 - - 56 0 0.00 30 5 13.89 PAXBP1 0 genome.wustl.edu 37 21 34134584 34134584 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 21 34134584 34134584 G T SNP PAXBP1 ENST00000331923 human ensembl 74_37 -1 known missense c.694 p.R232S 1.000 NULL pfam_GCFC_dom - no_errors PAXBP1 HGNC ENSG00000159086 tier1 - - 44 0 0.00 42 4 8.70 PCDH15 0 genome.wustl.edu 37 10 55582821 55582821 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 55582821 55582821 T C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.4665 p.K1555 0.059 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 41 0 0.00 27 16 37.21 PCDH15 0 genome.wustl.edu 37 10 55582821 55582821 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 55582821 55582821 T C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.4665 p.K1555 0.059 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 54 0 0.00 27 16 37.21 PCDH15 0 genome.wustl.edu 37 10 55955475 55955475 + Silent SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 55955475 55955475 T G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.1273 p.R425 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 51 0 0.00 42 26 38.24 PCDH15 0 genome.wustl.edu 37 10 55955475 55955475 + Silent SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 55955475 55955475 T G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.1273 p.R425 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 80 0 0.00 42 26 38.24 PCDH20 0 genome.wustl.edu 37 13 61986873 61986873 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 13 61986873 61986873 A C SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.1359 p.F453L 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 tier1 - - 36 0 0.00 31 5 13.89 PCDH20 0 genome.wustl.edu 37 13 61986873 61986873 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 13 61986873 61986873 A C SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.1359 p.F453L 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 tier1 - - 43 0 0.00 31 5 13.89 PCDHA13 0 genome.wustl.edu 37 5 140264110 140264110 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 140264110 140264110 C G SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.2257 p.Q753E 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 tier1 - - 66 0 0.00 28 15 34.88 PCDHA13 0 genome.wustl.edu 37 5 140264110 140264110 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 140264110 140264110 C G SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.2257 p.Q753E 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 tier1 - - 86 0 0.00 28 15 34.88 PCDHB11 0 genome.wustl.edu 37 5 140581066 140581066 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 140581066 140581066 C T SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known silent c.1719 p.T573 0.036 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 tier1 - - 72 0 0.00 32 7 17.95 PCDHB11 0 genome.wustl.edu 37 5 140581066 140581066 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 140581066 140581066 C T SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known silent c.1719 p.T573 0.036 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 tier1 - - 80 0 0.00 32 7 17.95 PCDHB8 0 genome.wustl.edu 37 5 140559227 140559227 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 140559227 140559227 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.1612 p.G538S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 tier1 - - 433 0 0.00 242 46 15.97 PCDHGA8 0 genome.wustl.edu 37 5 140772817 140772817 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 140772817 140772817 C T SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.437 p.A146V 0.684 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 92 0 0.00 50 3 5.66 PCLO 0 genome.wustl.edu 37 7 82545247 82545247 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 82545247 82545247 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.12055 p.S4019G 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 - - 36 0 0.00 32 19 37.25 PCLO 0 genome.wustl.edu 37 7 82545247 82545247 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 82545247 82545247 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.12055 p.S4019G 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 - - 48 0 0.00 32 19 37.25 PCLO 0 genome.wustl.edu 37 7 82581924 82581924 + Nonsense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 82581924 82581924 G T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known nonsense c.8345 p.S2782* 0.004 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 39 0 0.00 64 4 5.88 PCLO 0 genome.wustl.edu 37 7 82581924 82581924 + Nonsense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 82581924 82581924 G T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known nonsense c.8345 p.S2782* 0.004 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 - - 63 0 0.00 64 4 5.88 PCLO 0 genome.wustl.edu 37 7 82585562 82585562 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 82585562 82585562 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.4707 p.A1569 0.936 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 - - 32 0 0.00 44 18 29.03 PCLO 0 genome.wustl.edu 37 7 82585562 82585562 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 82585562 82585562 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.4707 p.A1569 0.936 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 - - 69 0 0.00 44 18 29.03 PCNT 0 genome.wustl.edu 37 21 47783564 47783564 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 21 47783564 47783564 G C SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.2324 p.R775T 0.028 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 84 0 0.00 54 4 6.90 PCNX 0 genome.wustl.edu 37 14 71413732 71413732 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 71413732 71413732 T G SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.254 p.L85R 0.974 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 tier1 - - 45 0 0.00 47 5 9.62 PCNX 0 genome.wustl.edu 37 14 71413732 71413732 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 71413732 71413732 T G SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.254 p.L85R 0.974 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 tier1 - - 72 0 0.00 47 5 9.62 PDCD1LG2 0 genome.wustl.edu 37 9 5549493 5549493 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 5549493 5549493 T A SNP PDCD1LG2 ENST00000397747 human ensembl 74_37 +1 known missense c.520 p.Y174N 1.000 pfam_CD80_C2-set,pfscan_Ig-like_dom pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors PDCD1LG2 HGNC ENSG00000197646 tier1 - - 112 0 0.00 42 5 10.64 PDCD1LG2 0 genome.wustl.edu 37 9 5549493 5549493 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 5549493 5549493 T A SNP PDCD1LG2 ENST00000397747 human ensembl 74_37 +1 known missense c.520 p.Y174N 1.000 pfam_CD80_C2-set,pfscan_Ig-like_dom pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors PDCD1LG2 HGNC ENSG00000197646 tier1 - - 91 0 0.00 42 5 10.64 PDE4DIP 0 genome.wustl.edu 37 1 144931675 144931675 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 144931675 144931675 G T SNP PDE4DIP ENST00000313431 human ensembl 74_37 -1 known missense c.34 p.L12M 1.000 NULL superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 108 0 0.00 69 4 5.48 PDZD2 0 genome.wustl.edu 37 5 31983269 31983269 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 31983269 31983269 C A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.485 p.A162D 1.000 superfamily_PDZ,smart_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 - - 107 0 0.00 45 11 19.64 PDZD2 0 genome.wustl.edu 37 5 31983269 31983269 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 31983269 31983269 C A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.485 p.A162D 1.000 superfamily_PDZ,smart_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 - - 84 0 0.00 45 11 19.64 PDZRN3 0 genome.wustl.edu 37 3 73673724 73673724 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 73673724 73673724 C T SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.253 p.A85T 1.000 superfamily_TRAF-like pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 tier1 - - 59 0 0.00 29 14 32.56 PDZRN3 0 genome.wustl.edu 37 3 73673724 73673724 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 73673724 73673724 C T SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.253 p.A85T 1.000 superfamily_TRAF-like pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 tier1 - - 73 0 0.00 29 14 32.56 PELP1 0 genome.wustl.edu 37 17 4578413 4578413 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 4578413 4578413 C T SNP PELP1 ENST00000301396 human ensembl 74_37 -1 known missense c.1667 p.G556D 0.959 NULL pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 tier1 - - 123 0 0.00 73 5 6.41 PGBD1 0 genome.wustl.edu 37 6 28269577 28269577 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 28269577 28269577 C G SNP PGBD1 ENST00000259883 human ensembl 74_37 +1 known missense c.1946 p.T649R 0.855 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 61 0 0.00 53 3 5.36 PGLYRP2 0 genome.wustl.edu 37 19 15586453 15586453 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 15586453 15586453 A G SNP PGLYRP2 ENST00000292609 human ensembl 74_37 -1 known missense c.1028 p.L343P 0.952 NULL pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP2 HGNC ENSG00000161031 tier1 - - 51 0 0.00 35 15 30.00 PGLYRP2 0 genome.wustl.edu 37 19 15586453 15586453 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 15586453 15586453 A G SNP PGLYRP2 ENST00000292609 human ensembl 74_37 -1 known missense c.1028 p.L343P 0.952 NULL pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP2 HGNC ENSG00000161031 tier1 - - 58 0 0.00 35 15 30.00 PHACTR4 0 genome.wustl.edu 37 1 28802646 28802646 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 28802646 28802646 A C SNP PHACTR4 ENST00000373836 human ensembl 74_37 +1 known missense c.1479 p.Q493H 0.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR4 HGNC ENSG00000204138 tier1 - - 54 0 0.00 74 11 12.94 PHACTR4 0 genome.wustl.edu 37 1 28802646 28802646 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 28802646 28802646 A C SNP PHACTR4 ENST00000373836 human ensembl 74_37 +1 known missense c.1479 p.Q493H 0.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR4 HGNC ENSG00000204138 tier1 - - 90 0 0.00 74 11 12.94 PHC3 0 genome.wustl.edu 37 3 169824725 169824725 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 169824725 169824725 T G SNP PHC3 ENST00000495893 human ensembl 74_37 -1 known missense c.2363 p.E788A 1.000 pfscan_Znf_FCS pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC3 HGNC ENSG00000173889 tier1 - - 104 0 0.00 102 6 5.56 PHC3 0 genome.wustl.edu 37 3 169824725 169824725 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 169824725 169824725 T G SNP PHC3 ENST00000495893 human ensembl 74_37 -1 known missense c.2363 p.E788A 1.000 pfscan_Znf_FCS pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC3 HGNC ENSG00000173889 tier1 - - 79 0 0.00 102 6 5.56 PIEZO2 0 genome.wustl.edu 37 18 10770275 10770275 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 10770275 10770275 G T SNP PIEZO2 ENST00000582913 human ensembl 74_37 -1 known missense c.2784 p.D928E 1.000 NULL NULL - no_errors PIEZO2 HGNC ENSG00000154864 tier1 - - 104 0 0.00 95 5 5.00 PIEZO2 0 genome.wustl.edu 37 18 10770275 10770275 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 10770275 10770275 G T SNP PIEZO2 ENST00000582913 human ensembl 74_37 -1 known missense c.2784 p.D928E 1.000 NULL NULL - no_errors PIEZO2 HGNC ENSG00000154864 tier1 - - 126 0 0.00 95 5 5.00 PIGR 0 genome.wustl.edu 37 1 207103697 207103697 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 207103697 207103697 G T SNP PIGR ENST00000356495 human ensembl 74_37 -1 known missense c.2261 p.A754D 0.194 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PIGR HGNC ENSG00000162896 tier1 - - 47 0 0.00 41 4 8.89 PIGR 0 genome.wustl.edu 37 1 207103697 207103697 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 207103697 207103697 G T SNP PIGR ENST00000356495 human ensembl 74_37 -1 known missense c.2261 p.A754D 0.194 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PIGR HGNC ENSG00000162896 tier1 - - 71 0 0.00 41 4 8.89 PIK3CA 0 genome.wustl.edu 37 3 178916946 178916946 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 178916946 178916946 G T SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.333 p.K111N 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 - - 35 0 0.00 54 7 11.48 PIK3CA 0 genome.wustl.edu 37 3 178916946 178916946 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 178916946 178916946 G T SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.333 p.K111N 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 - - 59 0 0.00 54 7 11.48 PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 rs104886003 - 106 0 0.00 97 13 11.71 PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 rs104886003 - 73 0 0.00 97 13 11.71 PIM2 0 genome.wustl.edu 37 X 48772479 48772479 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 48772479 48772479 C T SNP PIM2 ENST00000376509 human ensembl 74_37 -1 known missense c.413 p.G138D 0.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PIM2 HGNC ENSG00000102096 tier1 rs35044770 - 47 0 0.00 31 13 29.55 PIM2 0 genome.wustl.edu 37 X 48772479 48772479 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 48772479 48772479 C T SNP PIM2 ENST00000376509 human ensembl 74_37 -1 known missense c.413 p.G138D 0.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PIM2 HGNC ENSG00000102096 tier1 rs35044770 - 63 0 0.00 31 13 29.55 PIWIL1 0 genome.wustl.edu 37 12 130833811 130833811 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 130833811 130833811 T C SNP PIWIL1 ENST00000245255 human ensembl 74_37 +1 known silent c.762 p.T254 0.510 superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 tier1 - - 59 0 0.00 47 26 35.14 PIWIL1 0 genome.wustl.edu 37 12 130833811 130833811 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 130833811 130833811 T C SNP PIWIL1 ENST00000245255 human ensembl 74_37 +1 known silent c.762 p.T254 0.510 superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 tier1 - - 87 0 0.00 47 26 35.14 PKDREJ 0 genome.wustl.edu 37 22 46656636 46656636 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 46656636 46656636 A G SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.2584 p.Y862H 0.001 pfscan_REJ-like pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 50 0 0.00 45 3 6.25 PKP4 0 genome.wustl.edu 37 2 159537122 159537122 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 159537122 159537122 T C SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known missense c.3512 p.F1171S 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 tier1 - - 77 0 0.00 71 13 15.48 PKP4 0 genome.wustl.edu 37 2 159537122 159537122 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 159537122 159537122 T C SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known missense c.3512 p.F1171S 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 tier1 - - 98 0 0.00 71 13 15.48 PLCB1 0 genome.wustl.edu 37 20 8630090 8630090 + Silent SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 8630090 8630090 T G SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known silent c.588 p.S196 0.996 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 tier1 - - 51 0 0.00 56 4 6.67 PLCB1 0 genome.wustl.edu 37 20 8630090 8630090 + Silent SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 8630090 8630090 T G SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known silent c.588 p.S196 0.996 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 tier1 - - 65 0 0.00 56 4 6.67 PLEKHA5 0 genome.wustl.edu 37 12 19423138 19423138 + Nonsense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 19423138 19423138 C T SNP PLEKHA5 ENST00000429027 human ensembl 74_37 +1 novel nonsense c.844 p.R282* 1.000 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 tier1 - - 65 0 0.00 69 4 5.48 PLEKHA5 0 genome.wustl.edu 37 12 19423138 19423138 + Nonsense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 19423138 19423138 C T SNP PLEKHA5 ENST00000429027 human ensembl 74_37 +1 novel nonsense c.844 p.R282* 1.000 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 tier1 - - 86 0 0.00 69 4 5.48 PLEKHM3 0 genome.wustl.edu 37 2 208841894 208841894 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 208841894 208841894 T C SNP PLEKHM3 ENST00000427836 human ensembl 74_37 -1 known missense c.1027 p.T343A 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHM3 HGNC ENSG00000178385 tier1 - - 41 0 0.00 29 8 21.62 PLEKHM3 0 genome.wustl.edu 37 2 208841894 208841894 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 208841894 208841894 T C SNP PLEKHM3 ENST00000427836 human ensembl 74_37 -1 known missense c.1027 p.T343A 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHM3 HGNC ENSG00000178385 tier1 - - 42 0 0.00 29 8 21.62 PLGLA 0 genome.wustl.edu 37 2 107004042 107004042 + RNA SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 107004042 107004042 A G SNP PLGLA ENST00000482249 human ensembl 74_37 +1 known rna NULL NULL 0.235 - - - no_errors PLGLA HGNC ENSG00000240935 tier1 - - 238 0 0.00 245 49 16.67 PLRG1 0 genome.wustl.edu 37 4 155460362 155460362 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 155460362 155460362 C A SNP PLRG1 ENST00000393905 human ensembl 74_37 -1 known missense c.1046 p.S349I 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PLRG1 HGNC ENSG00000171566 tier1 - - 51 0 0.00 40 22 35.48 PLRG1 0 genome.wustl.edu 37 4 155460362 155460362 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 155460362 155460362 C A SNP PLRG1 ENST00000393905 human ensembl 74_37 -1 known missense c.1046 p.S349I 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PLRG1 HGNC ENSG00000171566 tier1 - - 76 0 0.00 40 22 35.48 PMPCB 0 genome.wustl.edu 37 7 102950884 102950884 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 102950884 102950884 C A SNP PMPCB ENST00000249269 human ensembl 74_37 +1 known silent c.1116 p.S372 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors PMPCB HGNC ENSG00000105819 tier1 - - 74 0 0.00 71 4 5.33 POLA2 0 genome.wustl.edu 37 11 65043451 65043451 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 65043451 65043451 C T SNP POLA2 ENST00000265465 human ensembl 74_37 +1 known missense c.443 p.P148L 0.993 pfam_Pol_alpha_B_N,pirsf_DNA_pol_alpha_bsu pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu - no_errors POLA2 HGNC ENSG00000014138 tier1 - - 101 0 0.00 58 12 17.14 POLA2 0 genome.wustl.edu 37 11 65043451 65043451 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 65043451 65043451 C T SNP POLA2 ENST00000265465 human ensembl 74_37 +1 known missense c.443 p.P148L 0.993 pfam_Pol_alpha_B_N,pirsf_DNA_pol_alpha_bsu pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu - no_errors POLA2 HGNC ENSG00000014138 tier1 - - 93 0 0.00 58 12 17.14 POLB 0 genome.wustl.edu 37 8 42207570 42207570 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 42207570 42207570 G A SNP POLB ENST00000265421 human ensembl 74_37 +1 known missense c.307 p.V103I 1.000 pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_DNA_pol_X_beta-like,prints_DNA_pol_X - no_errors POLB HGNC ENSG00000070501 tier1 - - 59 0 0.00 24 14 36.84 POLB 0 genome.wustl.edu 37 8 42207570 42207570 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 42207570 42207570 G A SNP POLB ENST00000265421 human ensembl 74_37 +1 known missense c.307 p.V103I 1.000 pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_DNA_pol_X_beta-like,prints_DNA_pol_X - no_errors POLB HGNC ENSG00000070501 tier1 - - 77 0 0.00 24 14 36.84 POLD2 0 genome.wustl.edu 37 7 44156030 44156030 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 44156030 44156030 C T SNP POLD2 ENST00000406581 human ensembl 74_37 -1 known missense c.860 p.S287N 0.989 pfam_DNA_pol_alpha/epsilon_bsu pfam_DNA_pol_alpha/epsilon_bsu - no_errors POLD2 HGNC ENSG00000106628 tier1 - - 42 0 0.00 30 13 30.23 POLD2 0 genome.wustl.edu 37 7 44156030 44156030 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 44156030 44156030 C T SNP POLD2 ENST00000406581 human ensembl 74_37 -1 known missense c.860 p.S287N 0.989 pfam_DNA_pol_alpha/epsilon_bsu pfam_DNA_pol_alpha/epsilon_bsu - no_errors POLD2 HGNC ENSG00000106628 tier1 - - 50 0 0.00 30 13 30.23 POLQ 0 genome.wustl.edu 37 3 121179011 121179011 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 121179011 121179011 A C SNP POLQ ENST00000264233 human ensembl 74_37 -1 known silent c.7038 p.R2346 0.041 pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 tier1 - - 33 0 0.00 25 5 16.67 POLQ 0 genome.wustl.edu 37 3 121179011 121179011 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 121179011 121179011 A C SNP POLQ ENST00000264233 human ensembl 74_37 -1 known silent c.7038 p.R2346 0.041 pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 tier1 - - 41 0 0.00 25 5 16.67 POLR3B 0 genome.wustl.edu 37 12 106898014 106898014 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 106898014 106898014 T C SNP POLR3B ENST00000228347 human ensembl 74_37 +1 known missense c.3254 p.L1085P 1.000 pfam_RNA_pol_Rpb2_7 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 tier1 - - 69 0 0.00 27 10 27.03 POLR3H 0 genome.wustl.edu 37 22 41940092 41940092 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 41940092 41940092 A C SNP POLR3H ENST00000355209 human ensembl 74_37 -1 known missense c.14 p.V5G 1.000 superfamily_RNA_pol_Rpb7_N,tigrfam_RNAP_E/RPC8 pfam_RNA_pol_III_Rbc25,pfam_RNA_pol_Rpb7_N,superfamily_RNA_pol_Rpb7_N,superfamily_NA-bd_OB-fold,tigrfam_RNAP_E/RPC8 - no_errors POLR3H HGNC ENSG00000100413 tier1 - - 169 0 0.00 128 12 8.57 POLR3H 0 genome.wustl.edu 37 22 41940092 41940092 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 41940092 41940092 A C SNP POLR3H ENST00000355209 human ensembl 74_37 -1 known missense c.14 p.V5G 1.000 superfamily_RNA_pol_Rpb7_N,tigrfam_RNAP_E/RPC8 pfam_RNA_pol_III_Rbc25,pfam_RNA_pol_Rpb7_N,superfamily_RNA_pol_Rpb7_N,superfamily_NA-bd_OB-fold,tigrfam_RNAP_E/RPC8 - no_errors POLR3H HGNC ENSG00000100413 tier1 - - 198 0 0.00 128 12 8.57 POLR3H 0 genome.wustl.edu 37 22 41940093 41940093 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 41940093 41940093 C A SNP POLR3H ENST00000355209 human ensembl 74_37 -1 known missense c.13 p.V5L 1.000 superfamily_RNA_pol_Rpb7_N,tigrfam_RNAP_E/RPC8 pfam_RNA_pol_III_Rbc25,pfam_RNA_pol_Rpb7_N,superfamily_RNA_pol_Rpb7_N,superfamily_NA-bd_OB-fold,tigrfam_RNAP_E/RPC8 - no_errors POLR3H HGNC ENSG00000100413 tier1 - - 167 0 0.00 126 12 8.70 POLR3H 0 genome.wustl.edu 37 22 41940093 41940093 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 41940093 41940093 C A SNP POLR3H ENST00000355209 human ensembl 74_37 -1 known missense c.13 p.V5L 1.000 superfamily_RNA_pol_Rpb7_N,tigrfam_RNAP_E/RPC8 pfam_RNA_pol_III_Rbc25,pfam_RNA_pol_Rpb7_N,superfamily_RNA_pol_Rpb7_N,superfamily_NA-bd_OB-fold,tigrfam_RNAP_E/RPC8 - no_errors POLR3H HGNC ENSG00000100413 tier1 - - 198 0 0.00 126 12 8.70 POTEG 0 genome.wustl.edu 37 14 19571402 19571402 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 19571402 19571402 A G SNP POTEG ENST00000409832 human ensembl 74_37 +1 known missense c.1181 p.E394G 0.221 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEG HGNC ENSG00000222036 tier1 - - 600 0 0.00 598 56 8.56 POTEG 0 genome.wustl.edu 37 14 19571402 19571402 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 19571402 19571402 A G SNP POTEG ENST00000409832 human ensembl 74_37 +1 known missense c.1181 p.E394G 0.221 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEG HGNC ENSG00000222036 tier1 - - 945 0 0.00 598 56 8.56 POU3F2 0 genome.wustl.edu 37 6 99282803 99282803 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 99282803 99282803 C A SNP POU3F2 ENST00000328345 human ensembl 74_37 +1 known silent c.54 p.I18 1.000 pirsf_Transcription_factor_POU pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F2 HGNC ENSG00000184486 tier1 - - 37 0 0.00 6 13 68.42 POU3F2 0 genome.wustl.edu 37 6 99282803 99282803 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 99282803 99282803 C A SNP POU3F2 ENST00000328345 human ensembl 74_37 +1 known silent c.54 p.I18 1.000 pirsf_Transcription_factor_POU pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F2 HGNC ENSG00000184486 tier1 - - 43 0 0.00 6 13 68.42 POU4F3 0 genome.wustl.edu 37 5 145719175 145719175 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 145719175 145719175 C T SNP POU4F3 ENST00000230732 human ensembl 74_37 +1 known missense c.185 p.A62V 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F3 HGNC ENSG00000091010 tier1 - - 100 0 0.00 50 23 31.51 POU4F3 0 genome.wustl.edu 37 5 145719175 145719175 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 145719175 145719175 C T SNP POU4F3 ENST00000230732 human ensembl 74_37 +1 known missense c.185 p.A62V 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F3 HGNC ENSG00000091010 tier1 - - 127 0 0.00 50 23 31.51 PQBP1 0 genome.wustl.edu 37 X 48760385 48760385 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 48760385 48760385 G T SNP PQBP1 ENST00000473764 human ensembl 74_37 +1 known rna NULL NULL 0.046 - - - no_errors PQBP1 HGNC ENSG00000102103 tier1 - - 44 0 0.00 6 28 82.35 PQBP1 0 genome.wustl.edu 37 X 48760385 48760385 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 48760385 48760385 G T SNP PQBP1 ENST00000473764 human ensembl 74_37 +1 known rna NULL NULL 0.046 - - - no_errors PQBP1 HGNC ENSG00000102103 tier1 - - 48 0 0.00 6 28 82.35 PRAMEF1 0 genome.wustl.edu 37 1 12855998 12855998 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 12855998 12855998 T A SNP PRAMEF1 ENST00000332296 human ensembl 74_37 +1 known missense c.1278 p.N426K 0.000 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 tier1 - - 453 0 0.00 308 33 9.68 PRAMEF1 0 genome.wustl.edu 37 1 12855998 12855998 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 12855998 12855998 T A SNP PRAMEF1 ENST00000332296 human ensembl 74_37 +1 known missense c.1278 p.N426K 0.000 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 tier1 - - 503 0 0.00 308 33 9.68 PRAMEF6 0 genome.wustl.edu 37 1 13001286 13001286 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 13001286 13001286 T G SNP PRAMEF6 ENST00000355096 human ensembl 74_37 -1 known missense c.397 p.T133P 0.000 NULL NULL - no_errors PRAMEF6 HGNC ENSG00000232423 tier1 - - 749 0 0.00 387 42 9.77 PRAMEF6 0 genome.wustl.edu 37 1 13001306 13001306 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 13001306 13001306 A C SNP PRAMEF6 ENST00000355096 human ensembl 74_37 -1 known missense c.377 p.L126R 0.000 NULL NULL - no_errors PRAMEF6 HGNC ENSG00000232423 tier1 - - 600 0 0.00 313 44 12.29 PRAMEF6 0 genome.wustl.edu 37 1 13001306 13001306 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 13001306 13001306 A C SNP PRAMEF6 ENST00000355096 human ensembl 74_37 -1 known missense c.377 p.L126R 0.000 NULL NULL - no_errors PRAMEF6 HGNC ENSG00000232423 tier1 - - 629 0 0.00 313 44 12.29 PRB4 0 genome.wustl.edu 37 12 11461347 11461347 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 11461347 11461347 T G SNP PRB4 ENST00000279575 human ensembl 74_37 -1 known missense c.570 p.E190D 0.000 NULL NULL - no_errors PRB4 HGNC ENSG00000230657 tier1 - - 156 0 0.00 96 25 20.66 PRDM11 0 genome.wustl.edu 37 11 45204671 45204671 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 45204671 45204671 G T SNP PRDM11 ENST00000263765 human ensembl 74_37 +1 known missense c.585 p.W195C 1.000 pfscan_SET_dom pfscan_SET_dom - no_errors PRDM11 HGNC ENSG00000019485 tier1 - - 20 0 0.00 9 7 43.75 PRDM11 0 genome.wustl.edu 37 11 45204671 45204671 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 45204671 45204671 G T SNP PRDM11 ENST00000263765 human ensembl 74_37 +1 known missense c.585 p.W195C 1.000 pfscan_SET_dom pfscan_SET_dom - no_errors PRDM11 HGNC ENSG00000019485 tier1 - - 27 0 0.00 9 7 43.75 PRDX3 0 genome.wustl.edu 37 10 120933985 120933985 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 120933985 120933985 G A SNP PRDX3 ENST00000298510 human ensembl 74_37 -1 known missense c.289 p.L97F 1.000 pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold - no_errors PRDX3 HGNC ENSG00000165672 tier1 - - 70 0 0.00 67 5 6.94 PRDX3 0 genome.wustl.edu 37 10 120933985 120933985 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 120933985 120933985 G A SNP PRDX3 ENST00000298510 human ensembl 74_37 -1 known missense c.289 p.L97F 1.000 pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold - no_errors PRDX3 HGNC ENSG00000165672 tier1 - - 72 0 0.00 67 5 6.94 PREX2 0 genome.wustl.edu 37 8 68993022 68993022 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 68993022 68993022 C T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known silent c.1827 p.D609 1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ 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 - - 117 0 0.00 63 29 31.52 PRKD1 0 genome.wustl.edu 37 14 30105588 30105588 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 30105588 30105588 T G SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.1098 p.Q366H 0.293 NULL 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 - - 46 0 0.00 29 4 12.12 PRKD1 0 genome.wustl.edu 37 14 30105588 30105588 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 30105588 30105588 T G SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.1098 p.Q366H 0.293 NULL 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 - - 53 0 0.00 29 4 12.12 PRMT10 0 genome.wustl.edu 37 4 148575339 148575339 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 148575339 148575339 C G SNP PRMT10 ENST00000322396 human ensembl 74_37 -1 known missense c.1709 p.G570A 0.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRMT10 HGNC ENSG00000164169 tier1 - - 78 0 0.00 68 14 17.07 PRMT10 0 genome.wustl.edu 37 4 148575339 148575339 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 148575339 148575339 C G SNP PRMT10 ENST00000322396 human ensembl 74_37 -1 known missense c.1709 p.G570A 0.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRMT10 HGNC ENSG00000164169 tier1 - - 83 0 0.00 68 14 17.07 PRMT5-AS1 0 genome.wustl.edu 37 14 23390008 23390008 + RNA SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 23390008 23390008 C T SNP PRMT5-AS1 ENST00000424245 human ensembl 74_37 +1 known rna NULL NULL 0.486 - - - no_errors PRMT5-AS1 HGNC ENSG00000237054 tier1 - - 52 0 0.00 23 9 28.12 PRMT5-AS1 0 genome.wustl.edu 37 14 23390008 23390008 + RNA SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 23390008 23390008 C T SNP PRMT5-AS1 ENST00000424245 human ensembl 74_37 +1 known rna NULL NULL 0.486 - - - no_errors PRMT5-AS1 HGNC ENSG00000237054 tier1 - - 56 0 0.00 23 9 28.12 PRPF40B 0 genome.wustl.edu 37 12 50030498 50030498 + Splice_Site SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 50030498 50030498 G A SNP PRPF40B ENST00000548825 human ensembl 74_37 +1 known splice_site c.1427-1 e16-1 1.000 - - - no_errors PRPF40B HGNC ENSG00000110844 tier1 - - 121 0 0.00 85 5 5.56 PRPF40B 0 genome.wustl.edu 37 12 50030498 50030498 + Splice_Site SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 50030498 50030498 G A SNP PRPF40B ENST00000548825 human ensembl 74_37 +1 known splice_site c.1427-1 e16-1 1.000 - - - no_errors PRPF40B HGNC ENSG00000110844 tier1 - - 99 0 0.00 85 5 5.56 PRPF6 0 genome.wustl.edu 37 20 62660787 62660787 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 62660787 62660787 G T SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known missense c.2489 p.S830I 1.000 NULL pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 tier1 - - 105 0 0.00 121 11 8.33 PRPF6 0 genome.wustl.edu 37 20 62660787 62660787 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 62660787 62660787 G T SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known missense c.2489 p.S830I 1.000 NULL pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 tier1 - - 113 0 0.00 121 11 8.33 PRR16 0 genome.wustl.edu 37 5 120021871 120021871 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 120021871 120021871 A C SNP PRR16 ENST00000407149 human ensembl 74_37 +1 known silent c.382 p.R128 0.152 NULL NULL - no_errors PRR16 HGNC ENSG00000184838 tier1 - - 54 0 0.00 33 20 37.74 PRR16 0 genome.wustl.edu 37 5 120021871 120021871 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 120021871 120021871 A C SNP PRR16 ENST00000407149 human ensembl 74_37 +1 known silent c.382 p.R128 0.152 NULL NULL - no_errors PRR16 HGNC ENSG00000184838 tier1 - - 60 0 0.00 33 20 37.74 PRRG2 0 genome.wustl.edu 37 19 50093249 50093249 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 50093249 50093249 C T SNP PRRG2 ENST00000246794 human ensembl 74_37 +1 known missense c.530 p.T177I 1.000 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG2 HGNC ENSG00000126460 tier1 - - 20 0 0.00 16 4 20.00 PSMA3 0 genome.wustl.edu 37 14 58730477 58730477 + Nonsense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 58730477 58730477 G T SNP PSMA3 ENST00000216455 human ensembl 74_37 +1 known nonsense c.532 p.E178* 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA3 HGNC ENSG00000100567 36 0 0.00 18 2 10.00 PSMA7 0 genome.wustl.edu 37 20 60711998 60711998 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 60711998 60711998 T C SNP PSMA7 ENST00000370873 human ensembl 74_37 -1 known missense c.662 p.N221S 1.000 NULL pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA7 HGNC ENSG00000101182 tier1 - - 95 0 0.00 60 65 52.00 PSTPIP1 0 genome.wustl.edu 37 15 77310810 77310810 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 77310810 77310810 G T SNP PSTPIP1 ENST00000559785 human ensembl 74_37 +1 known missense c.345 p.E115D 1.000 pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom - no_errors PSTPIP1 HGNC ENSG00000140368 tier1 - - 36 0 0.00 30 4 11.76 PSTPIP1 0 genome.wustl.edu 37 15 77310810 77310810 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 77310810 77310810 G T SNP PSTPIP1 ENST00000559785 human ensembl 74_37 +1 known missense c.345 p.E115D 1.000 pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom - no_errors PSTPIP1 HGNC ENSG00000140368 tier1 - - 45 0 0.00 30 4 11.76 PTENP1 0 genome.wustl.edu 37 9 33676558 33676558 + RNA SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 33676558 33676558 T C SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 tier1 - - 111 0 0.00 71 8 10.13 PTOV1-AS1 0 genome.wustl.edu 37 19 50342059 50342059 + RNA SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 50342059 50342059 A G SNP PTOV1-AS1 ENST00000596521 human ensembl 74_37 -1 known rna NULL NULL 0.960 - - - no_errors PTOV1-AS1 HGNC ENSG00000268006 tier1 - - 38 0 0.00 45 5 10.00 PTOV1-AS1 0 genome.wustl.edu 37 19 50342059 50342059 + RNA SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 50342059 50342059 A G SNP PTOV1-AS1 ENST00000596521 human ensembl 74_37 -1 known rna NULL NULL 0.960 - - - no_errors PTOV1-AS1 HGNC ENSG00000268006 tier1 - - 48 0 0.00 45 5 10.00 PTPN21 0 genome.wustl.edu 37 14 88946419 88946419 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 88946419 88946419 C G SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.1356 p.E452D 1.000 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 tier1 - - 64 0 0.00 44 8 15.38 PTPN21 0 genome.wustl.edu 37 14 88946419 88946419 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 88946419 88946419 C G SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.1356 p.E452D 1.000 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 tier1 - - 74 0 0.00 44 8 15.38 PTPN23 0 genome.wustl.edu 37 3 47452795 47452795 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 47452795 47452795 G C SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known missense c.3507 p.E1169D 1.000 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 tier1 - - 18 0 0.00 13 7 35.00 PTPN23 0 genome.wustl.edu 37 3 47452795 47452795 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 47452795 47452795 G C SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known missense c.3507 p.E1169D 1.000 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 tier1 - - 20 0 0.00 13 7 35.00 PTPRD 0 genome.wustl.edu 37 9 8492870 8492870 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 8492870 8492870 G A SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.2459 p.T820I 1.000 superfamily_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 71 0 0.00 31 7 18.42 PTPRD 0 genome.wustl.edu 37 9 8492870 8492870 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 8492870 8492870 G A SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.2459 p.T820I 1.000 superfamily_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 72 0 0.00 31 7 18.42 PTPRD 0 genome.wustl.edu 37 9 8518303 8518303 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 8518303 8518303 G C SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.1088 p.S363C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 32 0 0.00 8 7 46.67 PTPRD 0 genome.wustl.edu 37 9 8518303 8518303 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 8518303 8518303 G C SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.1088 p.S363C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 35 0 0.00 8 7 46.67 PTPRJ 0 genome.wustl.edu 37 11 48134407 48134407 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 48134407 48134407 G T SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.224 p.G75V 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,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 PTPRJ HGNC ENSG00000149177 tier1 - - 85 0 0.00 66 4 5.71 PTPRR 0 genome.wustl.edu 37 12 71286609 71286609 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 71286609 71286609 A G SNP PTPRR ENST00000283228 human ensembl 74_37 -1 known silent c.207 p.S69 0.142 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 tier1 - - 68 0 0.00 73 6 7.59 PTPRR 0 genome.wustl.edu 37 12 71286609 71286609 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 71286609 71286609 A G SNP PTPRR ENST00000283228 human ensembl 74_37 -1 known silent c.207 p.S69 0.142 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 tier1 - - 82 0 0.00 73 6 7.59 PTRH1 0 genome.wustl.edu 37 9 130457377 130457377 + RNA SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 130457377 130457377 A G SNP PTRH1 ENST00000335223 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors PTRH1 HGNC ENSG00000187024 tier1 - - 17 0 0.00 19 7 26.92 PWP2 0 genome.wustl.edu 37 21 45539308 45539308 + Silent SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 21 45539308 45539308 C G SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known silent c.1092 p.S364 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 tier1 - - 95 0 0.00 46 20 30.30 RAB5A 0 genome.wustl.edu 37 3 20019889 20019889 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 20019889 20019889 G A SNP RAB5A ENST00000273047 human ensembl 74_37 +1 known missense c.526 p.A176T 1.000 pfam_Small_GTPase,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB5A HGNC ENSG00000144566 tier1 - - 47 0 0.00 34 17 33.33 RAB5A 0 genome.wustl.edu 37 3 20019889 20019889 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 20019889 20019889 G A SNP RAB5A ENST00000273047 human ensembl 74_37 +1 known missense c.526 p.A176T 1.000 pfam_Small_GTPase,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB5A HGNC ENSG00000144566 tier1 - - 84 0 0.00 34 17 33.33 RAD17 0 genome.wustl.edu 37 5 68677884 68677884 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 68677884 68677884 G A SNP RAD17 ENST00000380774 human ensembl 74_37 +1 known missense c.541 p.E181K 1.000 superfamily_P-loop_NTPase,tigrfam_Checkpoint_prot_Rad24_fun/met superfamily_P-loop_NTPase,tigrfam_Checkpoint_prot_Rad24_fun/met - no_errors RAD17 HGNC ENSG00000152942 76 0 0.00 71 4 5.33 RAD54L2 0 genome.wustl.edu 37 3 51624572 51624572 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 51624572 51624572 G A SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known missense c.136 p.D46N 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 tier1 - - 103 0 0.00 54 5 8.47 RAD54L2 0 genome.wustl.edu 37 3 51624572 51624572 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 51624572 51624572 G A SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known missense c.136 p.D46N 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 tier1 - - 90 0 0.00 54 5 8.47 RAD54L2 0 genome.wustl.edu 37 3 51624573 51624573 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 51624573 51624573 A T SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known missense c.137 p.D46V 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 tier1 - - 101 0 0.00 54 5 8.47 RAD54L2 0 genome.wustl.edu 37 3 51624573 51624573 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 51624573 51624573 A T SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known missense c.137 p.D46V 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 tier1 - - 91 0 0.00 54 5 8.47 RANBP10 0 genome.wustl.edu 37 16 67763629 67763629 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 67763629 67763629 G C SNP RANBP10 ENST00000317506 human ensembl 74_37 -1 known missense c.1101 p.S367R 1.000 NULL pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC ENSG00000141084 tier1 - - 84 0 0.00 53 4 7.02 RANBP10 0 genome.wustl.edu 37 16 67763629 67763629 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 67763629 67763629 G C SNP RANBP10 ENST00000317506 human ensembl 74_37 -1 known missense c.1101 p.S367R 1.000 NULL pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC ENSG00000141084 tier1 - - 87 0 0.00 53 4 7.02 RASA1 0 genome.wustl.edu 37 5 86627277 86627277 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 86627277 86627277 C T SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known missense c.652 p.L218F 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 18 0 0.00 18 2 10.00 RASA4 0 genome.wustl.edu 37 7 102246379 102246379 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 102246379 102246379 G A SNP RASA4 ENST00000262940 human ensembl 74_37 -1 known silent c.354 p.G118 0.667 superfamily_C2_dom pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,prints_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASA4 HGNC ENSG00000105808 tier1 - - 223 0 0.00 217 41 15.83 RASA4 0 genome.wustl.edu 37 7 102246379 102246379 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 102246379 102246379 G A SNP RASA4 ENST00000262940 human ensembl 74_37 -1 known silent c.354 p.G118 0.667 superfamily_C2_dom pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,prints_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASA4 HGNC ENSG00000105808 tier1 - - 248 0 0.00 217 41 15.83 RASA4B 0 genome.wustl.edu 37 7 102147216 102147216 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 102147216 102147216 G A SNP RASA4B ENST00000465829 human ensembl 74_37 -1 known silent c.354 p.G118 0.757 superfamily_C2_dom pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_C2_dom - no_errors RASA4B HGNC ENSG00000170667 tier1 - - 84 0 0.00 164 56 25.45 RASGRF1 0 genome.wustl.edu 37 15 79350703 79350703 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 79350703 79350703 C G SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.504 p.E168D 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 tier1 - - 57 0 0.00 14 3 17.65 RB1CC1 0 genome.wustl.edu 37 8 53570013 53570013 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 53570013 53570013 A C SNP RB1CC1 ENST00000025008 human ensembl 74_37 -1 known silent c.2376 p.T792 0.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 tier1 - - 29 0 0.00 29 22 43.14 RB1CC1 0 genome.wustl.edu 37 8 53570013 53570013 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 53570013 53570013 A C SNP RB1CC1 ENST00000025008 human ensembl 74_37 -1 known silent c.2376 p.T792 0.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 tier1 - - 53 0 0.00 29 22 43.14 RBMXL2 0 genome.wustl.edu 37 11 7110519 7110519 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 7110519 7110519 T C SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known silent c.168 p.F56 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 tier1 - - 114 0 0.00 79 5 5.95 RBMXL2 0 genome.wustl.edu 37 11 7110519 7110519 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 7110519 7110519 T C SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known silent c.168 p.F56 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 tier1 - - 120 0 0.00 79 5 5.95 RBMY2EP 0 genome.wustl.edu 37 Y 23557170 23557170 + RNA SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a Y 23557170 23557170 A T SNP RBMY2EP ENST00000444169 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RBMY2EP HGNC ENSG00000223637 tier1 - - 146 0 0.00 51 56 51.85 RBMY2EP 0 genome.wustl.edu 37 Y 23557170 23557170 + RNA SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a Y 23557170 23557170 A T SNP RBMY2EP ENST00000444169 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RBMY2EP HGNC ENSG00000223637 tier1 - - 164 0 0.00 51 56 51.85 RC3H2 0 genome.wustl.edu 37 9 125659575 125659575 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 125659575 125659575 G T SNP RC3H2 ENST00000357244 human ensembl 74_37 -1 known missense c.214 p.Q72K 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 72 0 0.00 65 4 5.71 RDH10 0 genome.wustl.edu 37 8 74209587 74209587 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 74209587 74209587 T C SNP RDH10 ENST00000240285 human ensembl 74_37 +1 known missense c.448 p.S150P 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH10 HGNC ENSG00000121039 tier1 - - 99 0 0.00 67 7 9.46 REL 0 genome.wustl.edu 37 2 61149328 61149328 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 61149328 61149328 G T SNP REL ENST00000295025 human ensembl 74_37 +1 known missense c.1518 p.M506I 0.932 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors REL HGNC ENSG00000162924 tier1 - - 36 0 0.00 21 3 12.50 REL 0 genome.wustl.edu 37 2 61149328 61149328 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 61149328 61149328 G T SNP REL ENST00000295025 human ensembl 74_37 +1 known missense c.1518 p.M506I 0.932 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors REL HGNC ENSG00000162924 tier1 - - 49 0 0.00 21 3 12.50 REL 0 genome.wustl.edu 37 2 61149587 61149587 + Nonsense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 61149587 61149587 C T SNP REL ENST00000295025 human ensembl 74_37 +1 known nonsense c.1777 p.Q593* 0.400 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors REL HGNC ENSG00000162924 69 0 0.00 40 4 9.09 RELB 0 genome.wustl.edu 37 19 45532204 45532204 + Nonsense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 45532204 45532204 C A SNP RELB ENST00000221452 human ensembl 74_37 +1 known nonsense c.945 p.C315* 0.913 superfamily_Ig_E-set,smart_IPT pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELB HGNC ENSG00000104856 tier1 - - 101 0 0.00 77 29 26.85 RELB 0 genome.wustl.edu 37 19 45532204 45532204 + Nonsense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 45532204 45532204 C A SNP RELB ENST00000221452 human ensembl 74_37 +1 known nonsense c.945 p.C315* 0.913 superfamily_Ig_E-set,smart_IPT pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELB HGNC ENSG00000104856 tier1 - - 87 0 0.00 77 29 26.85 RFC5 0 genome.wustl.edu 37 12 118462695 118462695 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 118462695 118462695 T C SNP RFC5 ENST00000454402 human ensembl 74_37 +1 known missense c.461 p.I154T 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC5 HGNC ENSG00000111445 tier1 - - 51 0 0.00 55 8 12.70 RFC5 0 genome.wustl.edu 37 12 118462695 118462695 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 118462695 118462695 T C SNP RFC5 ENST00000454402 human ensembl 74_37 +1 known missense c.461 p.I154T 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC5 HGNC ENSG00000111445 tier1 - - 58 0 0.00 55 8 12.70 RFWD3 0 genome.wustl.edu 37 16 74670448 74670448 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 74670448 74670448 T C SNP RFWD3 ENST00000361070 human ensembl 74_37 -1 known missense c.1222 p.S408G 0.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING - no_errors RFWD3 HGNC ENSG00000168411 tier1 - - 51 0 0.00 38 12 24.00 RFWD3 0 genome.wustl.edu 37 16 74670448 74670448 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 74670448 74670448 T C SNP RFWD3 ENST00000361070 human ensembl 74_37 -1 known missense c.1222 p.S408G 0.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING - no_errors RFWD3 HGNC ENSG00000168411 tier1 - - 60 0 0.00 38 12 24.00 RGAG1 0 genome.wustl.edu 37 X 109697820 109697820 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 109697820 109697820 G T SNP RGAG1 ENST00000465301 human ensembl 74_37 +1 known silent c.3975 p.L1325 0.027 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 tier1 - - 25 0 0.00 7 24 77.42 RGAG1 0 genome.wustl.edu 37 X 109697820 109697820 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 109697820 109697820 G T SNP RGAG1 ENST00000465301 human ensembl 74_37 +1 known silent c.3975 p.L1325 0.027 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 tier1 - - 39 0 0.00 7 24 77.42 RGL4 0 genome.wustl.edu 37 22 24036564 24036564 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 24036564 24036564 G T SNP RGL4 ENST00000290691 human ensembl 74_37 +1 known missense c.943 p.V315L 0.005 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 - no_errors RGL4 HGNC ENSG00000159496 tier1 - - 51 0 0.00 36 8 18.18 RGL4 0 genome.wustl.edu 37 22 24036564 24036564 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 24036564 24036564 G T SNP RGL4 ENST00000290691 human ensembl 74_37 +1 known missense c.943 p.V315L 0.005 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 - no_errors RGL4 HGNC ENSG00000159496 tier1 - - 54 0 0.00 36 8 18.18 RGP1 0 genome.wustl.edu 37 9 35752730 35752730 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 35752730 35752730 C A SNP RGP1 ENST00000456972 human ensembl 74_37 +1 known silent c.1155 p.P385 0.045 NULL pfam_Rgp1 - no_errors RGP1 HGNC ENSG00000107185 tier1 - - 118 0 0.00 63 4 5.97 RGP1 0 genome.wustl.edu 37 9 35752730 35752730 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 35752730 35752730 C A SNP RGP1 ENST00000456972 human ensembl 74_37 +1 known silent c.1155 p.P385 0.045 NULL pfam_Rgp1 - no_errors RGP1 HGNC ENSG00000107185 tier1 - - 131 0 0.00 63 4 5.97 RGS3 0 genome.wustl.edu 37 9 116269826 116269826 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 116269826 116269826 G T SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known missense c.1345 p.G449W 0.142 NULL pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 64 0 0.00 35 2 5.41 RHD 0 genome.wustl.edu 37 1 25628086 25628086 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 25628086 25628086 C T SNP RHD ENST00000328664 human ensembl 74_37 +1 known missense c.710 p.A237V 0.472 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHD HGNC ENSG00000187010 95 0 0.00 57 3 5.00 RMI1 0 genome.wustl.edu 37 9 86617740 86617740 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 86617740 86617740 G A SNP RMI1 ENST00000325875 human ensembl 74_37 +1 known missense c.1839 p.M613I 0.183 NULL pfam_DUF1767 - no_errors RMI1 HGNC ENSG00000178966 tier1 - - 131 0 0.00 114 10 8.00 RMI1 0 genome.wustl.edu 37 9 86617740 86617740 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 86617740 86617740 G A SNP RMI1 ENST00000325875 human ensembl 74_37 +1 known missense c.1839 p.M613I 0.183 NULL pfam_DUF1767 - no_errors RMI1 HGNC ENSG00000178966 tier1 - - 96 0 0.00 114 10 8.00 RMI1 0 genome.wustl.edu 37 9 86617741 86617741 + Nonsense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 86617741 86617741 G T SNP RMI1 ENST00000325875 human ensembl 74_37 +1 known nonsense c.1840 p.E614* 0.934 NULL pfam_DUF1767 - no_errors RMI1 HGNC ENSG00000178966 tier1 - - 131 0 0.00 116 10 7.94 RMI1 0 genome.wustl.edu 37 9 86617741 86617741 + Nonsense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 86617741 86617741 G T SNP RMI1 ENST00000325875 human ensembl 74_37 +1 known nonsense c.1840 p.E614* 0.934 NULL pfam_DUF1767 - no_errors RMI1 HGNC ENSG00000178966 tier1 - - 98 0 0.00 116 10 7.94 RNF169 0 genome.wustl.edu 37 11 74546847 74546847 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 74546847 74546847 G A SNP RNF169 ENST00000299563 human ensembl 74_37 +1 known missense c.1199 p.R400H 0.997 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF169 HGNC ENSG00000166439 76 0 0.00 35 5 12.50 RNF17 0 genome.wustl.edu 37 13 25419157 25419157 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 13 25419157 25419157 T G SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known missense c.3041 p.L1014R 0.999 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 tier1 - - 60 0 0.00 63 17 21.25 RNF17 0 genome.wustl.edu 37 13 25419157 25419157 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 13 25419157 25419157 T G SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known missense c.3041 p.L1014R 0.999 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 tier1 - - 96 0 0.00 63 17 21.25 RNF20 0 genome.wustl.edu 37 9 104314938 104314938 + Nonsense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 104314938 104314938 A T SNP RNF20 ENST00000389120 human ensembl 74_37 +1 known nonsense c.1804 p.K602* 1.000 NULL superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 tier1 - - 44 0 0.00 51 13 20.31 RNF20 0 genome.wustl.edu 37 9 104314938 104314938 + Nonsense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 104314938 104314938 A T SNP RNF20 ENST00000389120 human ensembl 74_37 +1 known nonsense c.1804 p.K602* 1.000 NULL superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 tier1 - - 91 0 0.00 51 13 20.31 RNF4 0 genome.wustl.edu 37 4 2498812 2498812 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 2498812 2498812 T G SNP RNF4 ENST00000314289 human ensembl 74_37 +1 known missense c.88 p.S30A 0.984 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF4 HGNC ENSG00000063978 tier1 - - 107 0 0.00 68 4 5.56 RNF4 0 genome.wustl.edu 37 4 2498812 2498812 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 2498812 2498812 T G SNP RNF4 ENST00000314289 human ensembl 74_37 +1 known missense c.88 p.S30A 0.984 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF4 HGNC ENSG00000063978 tier1 - - 89 0 0.00 68 4 5.56 ROBO4 0 genome.wustl.edu 37 11 124761567 124761567 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 124761567 124761567 C T SNP ROBO4 ENST00000306534 human ensembl 74_37 -1 known missense c.1679 p.R560H 0.077 NULL 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 ROBO4 HGNC ENSG00000154133 tier1 - - 66 0 0.00 59 6 9.23 RPL13A 0 genome.wustl.edu 37 19 49994080 49994080 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 49994080 49994080 C T SNP RPL13A ENST00000391857 human ensembl 74_37 +1 known missense c.301 p.R101C 0.989 pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc - no_errors RPL13A HGNC ENSG00000142541 tier1 - - 60 0 0.00 36 15 29.41 RPL13A 0 genome.wustl.edu 37 19 49994080 49994080 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 49994080 49994080 C T SNP RPL13A ENST00000391857 human ensembl 74_37 +1 known missense c.301 p.R101C 0.989 pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc - no_errors RPL13A HGNC ENSG00000142541 tier1 - - 66 0 0.00 36 15 29.41 RPS14 0 genome.wustl.edu 37 5 149827198 149827198 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 149827198 149827198 G C SNP RPS14 ENST00000312037 human ensembl 74_37 -1 known missense c.99 p.I33M 1.000 pfam_Ribosomal_S11,pirsf_Ribosomal_S11 pfam_Ribosomal_S11,pirsf_Ribosomal_S11 - no_errors RPS14 HGNC ENSG00000164587 tier1 - - 105 0 0.00 41 4 8.89 RPS14 0 genome.wustl.edu 37 5 149827198 149827198 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 149827198 149827198 G C SNP RPS14 ENST00000312037 human ensembl 74_37 -1 known missense c.99 p.I33M 1.000 pfam_Ribosomal_S11,pirsf_Ribosomal_S11 pfam_Ribosomal_S11,pirsf_Ribosomal_S11 - no_errors RPS14 HGNC ENSG00000164587 tier1 - - 60 0 0.00 41 4 8.89 RRH 0 genome.wustl.edu 37 4 110756540 110756541 + Frame_Shift_Ins INS - - T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 110756540 110756541 - T INS RRH ENST00000317735 human ensembl 74_37 +1 known frame_shift_ins c.316_317 p.G109fs 1.000:1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn - no_errors RRH HGNC ENSG00000180245 tier1 59 0 0.00 34 2 5.56 RRH 0 genome.wustl.edu 37 4 110756540 110756541 + Frame_Shift_Ins INS - - T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 110756540 110756541 - T INS RRH ENST00000317735 human ensembl 74_37 +1 known frame_shift_ins c.316_317 p.G109fs 1.000:1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn - no_errors RRH HGNC ENSG00000180245 tier1 67 0 0.00 34 2 5.56 RSBN1 0 genome.wustl.edu 37 1 114308744 114308744 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 114308744 114308744 G T SNP RSBN1 ENST00000261441 human ensembl 74_37 -1 known missense c.2267 p.A756D 1.000 NULL NULL - no_errors RSBN1 HGNC ENSG00000081019 tier1 - - 67 0 0.00 70 4 5.41 RSBN1 0 genome.wustl.edu 37 1 114308744 114308744 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 114308744 114308744 G T SNP RSBN1 ENST00000261441 human ensembl 74_37 -1 known missense c.2267 p.A756D 1.000 NULL NULL - no_errors RSBN1 HGNC ENSG00000081019 tier1 - - 82 0 0.00 70 4 5.41 RSPO2 0 genome.wustl.edu 37 8 109094778 109094778 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 109094778 109094778 T C SNP RSPO2 ENST00000276659 human ensembl 74_37 -1 known missense c.89 p.K30R 1.000 superfamily_Growth_fac_rcpt_N_dom superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO2 HGNC ENSG00000147655 tier1 - - 66 0 0.00 49 5 9.26 RSPO2 0 genome.wustl.edu 37 8 109094778 109094778 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 109094778 109094778 T C SNP RSPO2 ENST00000276659 human ensembl 74_37 -1 known missense c.89 p.K30R 1.000 superfamily_Growth_fac_rcpt_N_dom superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO2 HGNC ENSG00000147655 tier1 - - 78 0 0.00 49 5 9.26 RTF1 0 genome.wustl.edu 37 15 41771390 41771390 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 41771390 41771390 G C SNP RTF1 ENST00000389629 human ensembl 74_37 +1 known missense c.1908 p.M636I 1.000 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 tier1 - - 43 0 0.00 32 4 11.11 RTF1 0 genome.wustl.edu 37 15 41771390 41771390 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 41771390 41771390 G C SNP RTF1 ENST00000389629 human ensembl 74_37 +1 known missense c.1908 p.M636I 1.000 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 tier1 - - 63 0 0.00 32 4 11.11 RUNDC3B 0 genome.wustl.edu 37 7 87280172 87280172 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 87280172 87280172 T C SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known missense c.157 p.F53L 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 tier1 - - 28 0 0.00 63 19 23.17 RUNDC3B 0 genome.wustl.edu 37 7 87280172 87280172 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 87280172 87280172 T C SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known missense c.157 p.F53L 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 tier1 - - 63 0 0.00 63 19 23.17 RYR2 0 genome.wustl.edu 37 1 237794767 237794767 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 237794767 237794767 C A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.6475 p.L2159I 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 102 0 0.00 57 26 31.33 RYR2 0 genome.wustl.edu 37 1 237794767 237794767 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 237794767 237794767 C A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.6475 p.L2159I 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 90 0 0.00 57 26 31.33 RYR3 0 genome.wustl.edu 37 15 34110884 34110884 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 34110884 34110884 A G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.10705 p.S3569G 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 37 0 0.00 28 4 12.12 RYR3 0 genome.wustl.edu 37 15 34110884 34110884 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 34110884 34110884 A G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.10705 p.S3569G 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 53 0 0.00 28 4 12.12 SAG 0 genome.wustl.edu 37 2 234235800 234235800 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 234235800 234235800 G A SNP SAG ENST00000409110 human ensembl 74_37 +1 known missense c.469 p.A157T 0.258 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors SAG HGNC ENSG00000130561 tier1 rs201283305 - 52 0 0.00 29 4 12.12 SAG 0 genome.wustl.edu 37 2 234235800 234235800 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 234235800 234235800 G A SNP SAG ENST00000409110 human ensembl 74_37 +1 known missense c.469 p.A157T 0.258 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors SAG HGNC ENSG00000130561 tier1 rs201283305 - 66 0 0.00 29 4 12.12 SAMM50 0 genome.wustl.edu 37 22 44364657 44364657 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 44364657 44364657 G A SNP SAMM50 ENST00000350028 human ensembl 74_37 +1 known missense c.281 p.G94E 0.997 NULL pfam_Bac_surfAg_D15 - no_errors SAMM50 HGNC ENSG00000100347 tier1 - - 37 0 0.00 30 13 30.23 SAMM50 0 genome.wustl.edu 37 22 44364657 44364657 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 44364657 44364657 G A SNP SAMM50 ENST00000350028 human ensembl 74_37 +1 known missense c.281 p.G94E 0.997 NULL pfam_Bac_surfAg_D15 - no_errors SAMM50 HGNC ENSG00000100347 tier1 - - 55 0 0.00 30 13 30.23 SCAND3 0 genome.wustl.edu 37 6 28540334 28540334 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 28540334 28540334 A C SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.3332 p.I1111S 1.000 superfamily_RNaseH-like_dom pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 tier1 - - 38 0 0.00 42 4 8.70 SCAND3 0 genome.wustl.edu 37 6 28540334 28540334 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 28540334 28540334 A C SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.3332 p.I1111S 1.000 superfamily_RNaseH-like_dom pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 tier1 - - 72 0 0.00 42 4 8.70 SCN11A 0 genome.wustl.edu 37 3 38913761 38913761 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 38913761 38913761 A G SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known silent c.3418 p.L1140 0.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 - - 61 0 0.00 34 8 19.05 SCN11A 0 genome.wustl.edu 37 3 38913761 38913761 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 38913761 38913761 A G SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known silent c.3418 p.L1140 0.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 - - 76 0 0.00 34 8 19.05 SCN5A 0 genome.wustl.edu 37 3 38591997 38591997 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 38591997 38591997 A C SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.5866 p.F1956V 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 tier1 - - 31 0 0.00 10 8 44.44 SCN5A 0 genome.wustl.edu 37 3 38591997 38591997 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 38591997 38591997 A C SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.5866 p.F1956V 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 tier1 - - 40 0 0.00 10 8 44.44 SENP7 0 genome.wustl.edu 37 3 101090887 101090887 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 101090887 101090887 C T SNP SENP7 ENST00000394095 human ensembl 74_37 -1 known missense c.761 p.G254D 0.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 tier1 - - 129 0 0.00 68 13 16.05 SENP7 0 genome.wustl.edu 37 3 101090887 101090887 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 101090887 101090887 C T SNP SENP7 ENST00000394095 human ensembl 74_37 -1 known missense c.761 p.G254D 0.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 tier1 - - 68 0 0.00 68 13 16.05 SEPT3 0 genome.wustl.edu 37 22 42377841 42377841 + Splice_Site SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 42377841 42377841 G T SNP SEPT3 ENST00000396426 human ensembl 74_37 +1 known splice_site c.202+1 e2+1 1.000 - - - no_errors SEPT3 HGNC ENSG00000100167 51 0 0.00 36 2 5.26 SET 0 genome.wustl.edu 37 9 131455203 131455203 + Silent SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 131455203 131455203 G C SNP SET ENST00000372692 human ensembl 74_37 +1 known silent c.474 p.L158 1.000 pfam_NAP_family pfam_NAP_family - no_errors SET HGNC ENSG00000119335 tier1 - - 44 0 0.00 49 9 15.52 SET 0 genome.wustl.edu 37 9 131455203 131455203 + Silent SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 131455203 131455203 G C SNP SET ENST00000372692 human ensembl 74_37 +1 known silent c.474 p.L158 1.000 pfam_NAP_family pfam_NAP_family - no_errors SET HGNC ENSG00000119335 tier1 - - 68 0 0.00 49 9 15.52 SETX 0 genome.wustl.edu 37 9 135204547 135204547 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 135204547 135204547 T C SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.2438 p.E813G 0.569 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 tier1 - - 21 0 0.00 13 16 55.17 SETX 0 genome.wustl.edu 37 9 135204547 135204547 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 135204547 135204547 T C SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.2438 p.E813G 0.569 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 tier1 - - 9 0 0.00 13 16 55.17 SGIP1 0 genome.wustl.edu 37 1 67185003 67185003 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 67185003 67185003 A G SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known missense c.1750 p.T584A 1.000 pfam_Muniscin_C-term_mu_dom pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 tier1 - - 56 0 0.00 35 12 25.53 SGIP1 0 genome.wustl.edu 37 1 67185003 67185003 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 67185003 67185003 A G SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known missense c.1750 p.T584A 1.000 pfam_Muniscin_C-term_mu_dom pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 tier1 - - 58 0 0.00 35 12 25.53 SGSM2 0 genome.wustl.edu 37 17 2276309 2276309 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 2276309 2276309 C T SNP SGSM2 ENST00000268989 human ensembl 74_37 +1 known silent c.1851 p.R617 0.969 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 tier1 - - 80 0 0.00 67 11 14.10 SGSM2 0 genome.wustl.edu 37 17 2276309 2276309 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 2276309 2276309 C T SNP SGSM2 ENST00000268989 human ensembl 74_37 +1 known silent c.1851 p.R617 0.969 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 tier1 - - 90 0 0.00 67 11 14.10 SH3BP1 0 genome.wustl.edu 37 22 38061577 38061577 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 38061577 38061577 C T SNP SH3BP1 ENST00000599616 human ensembl 74_37 +1 known missense c.1517 p.A506V 0.810 superfamily_HAD-like_dom pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,superfamily_HAD-like_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 tier1 - - 41 0 0.00 38 4 9.52 SH3BP1 0 genome.wustl.edu 37 22 38061577 38061577 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 38061577 38061577 C T SNP SH3BP1 ENST00000599616 human ensembl 74_37 +1 known missense c.1517 p.A506V 0.810 superfamily_HAD-like_dom pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,superfamily_HAD-like_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 tier1 - - 58 0 0.00 38 4 9.52 SHE 0 genome.wustl.edu 37 1 154474133 154474133 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 154474133 154474133 G T SNP SHE ENST00000304760 human ensembl 74_37 -1 known silent c.370 p.R124 0.993 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHE HGNC ENSG00000169291 18 0 0.00 18 2 10.00 SHROOM3 0 genome.wustl.edu 37 4 77652020 77652020 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 77652020 77652020 C T SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known silent c.519 p.P173 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 tier1 - - 66 0 0.00 31 7 18.42 SHROOM3 0 genome.wustl.edu 37 4 77652020 77652020 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 77652020 77652020 C T SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known silent c.519 p.P173 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 tier1 - - 89 0 0.00 31 7 18.42 SIPA1L2 0 genome.wustl.edu 37 1 232650209 232650209 + Nonsense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 232650209 232650209 G A SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known nonsense c.877 p.R293* 0.977 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 tier1 - - 35 0 0.00 26 7 21.21 SIPA1L2 0 genome.wustl.edu 37 1 232650209 232650209 + Nonsense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 232650209 232650209 G A SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known nonsense c.877 p.R293* 0.977 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 tier1 - - 45 0 0.00 26 7 21.21 SLC12A1 0 genome.wustl.edu 37 15 48519305 48519305 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 48519305 48519305 G A SNP SLC12A1 ENST00000396577 human ensembl 74_37 +1 known missense c.658 p.V220M 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 tier1 - - 101 0 0.00 60 4 6.25 SLC12A1 0 genome.wustl.edu 37 15 48519305 48519305 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 48519305 48519305 G A SNP SLC12A1 ENST00000396577 human ensembl 74_37 +1 known missense c.658 p.V220M 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 tier1 - - 51 0 0.00 60 4 6.25 SLC12A5 0 genome.wustl.edu 37 20 44685162 44685162 + Silent SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 44685162 44685162 T A SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known silent c.3138 p.P1046 0.001 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 tier1 - - 102 0 0.00 63 43 40.57 SLC12A5 0 genome.wustl.edu 37 20 44685162 44685162 + Silent SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 44685162 44685162 T A SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known silent c.3138 p.P1046 0.001 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 tier1 - - 97 0 0.00 63 43 40.57 SLC12A6 0 genome.wustl.edu 37 15 34546623 34546623 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 34546623 34546623 C A SNP SLC12A6 ENST00000558589 human ensembl 74_37 -1 known silent c.1017 p.L339 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 tier1 - - 74 0 0.00 58 5 7.81 SLC12A6 0 genome.wustl.edu 37 15 34546623 34546623 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 34546623 34546623 C A SNP SLC12A6 ENST00000558589 human ensembl 74_37 -1 known silent c.1017 p.L339 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 tier1 - - 84 0 0.00 58 5 7.81 SLC18B1 0 genome.wustl.edu 37 6 133097560 133097560 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 133097560 133097560 T G SNP SLC18B1 ENST00000275227 human ensembl 74_37 -1 known missense c.804 p.L268F 0.972 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18B1 HGNC ENSG00000146409 tier1 rs60263064 - 55 0 0.00 55 5 8.33 SLC24A3 0 genome.wustl.edu 37 20 19673907 19673907 + Silent SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 19673907 19673907 T A SNP SLC24A3 ENST00000328041 human ensembl 74_37 +1 known silent c.1329 p.G443 0.909 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A3 HGNC ENSG00000185052 tier1 - - 84 0 0.00 88 6 6.32 SLC25A19 0 genome.wustl.edu 37 17 73279593 73279593 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 73279593 73279593 A G SNP SLC25A19 ENST00000320362 human ensembl 74_37 -1 known missense c.370 p.C124R 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A19 HGNC ENSG00000125454 tier1 - - 105 0 0.00 51 13 20.31 SLC25A19 0 genome.wustl.edu 37 17 73279593 73279593 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 73279593 73279593 A G SNP SLC25A19 ENST00000320362 human ensembl 74_37 -1 known missense c.370 p.C124R 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A19 HGNC ENSG00000125454 tier1 - - 86 0 0.00 51 13 20.31 SLC25A25 0 genome.wustl.edu 37 9 130864363 130864363 + Nonsense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 130864363 130864363 C T SNP SLC25A25 ENST00000373069 human ensembl 74_37 +1 known nonsense c.481 p.R161* 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A25 HGNC ENSG00000148339 80 0 0.00 65 4 5.80 SLC25A3P1 0 genome.wustl.edu 37 1 53904718 53904718 + RNA SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 53904718 53904718 A C SNP SLC25A3P1 ENST00000562700 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors SLC25A3P1 HGNC ENSG00000236253 tier1 - - 12 0 0.00 6 4 40.00 SLC25A3P1 0 genome.wustl.edu 37 1 53904718 53904718 + RNA SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 53904718 53904718 A C SNP SLC25A3P1 ENST00000562700 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors SLC25A3P1 HGNC ENSG00000236253 tier1 - - 9 0 0.00 6 4 40.00 SLC27A2 0 genome.wustl.edu 37 15 50519256 50519256 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 50519256 50519256 G T SNP SLC27A2 ENST00000267842 human ensembl 74_37 +1 known missense c.1338 p.E446D 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A2 HGNC ENSG00000140284 46 0 0.00 29 2 6.25 SLC27A5 0 genome.wustl.edu 37 19 59022820 59022820 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 59022820 59022820 C A SNP SLC27A5 ENST00000263093 human ensembl 74_37 -1 known missense c.503 p.S168I 0.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC ENSG00000083807 tier1 - - 73 0 0.00 44 5 10.20 SLC31A2 0 genome.wustl.edu 37 9 115923847 115923847 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 115923847 115923847 G T SNP SLC31A2 ENST00000259392 human ensembl 74_37 +1 known missense c.132 p.K44N 1.000 pfam_Cop_transporter pfam_Cop_transporter - no_errors SLC31A2 HGNC ENSG00000136867 tier1 - - 66 0 0.00 49 6 10.91 SLC31A2 0 genome.wustl.edu 37 9 115923847 115923847 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 115923847 115923847 G T SNP SLC31A2 ENST00000259392 human ensembl 74_37 +1 known missense c.132 p.K44N 1.000 pfam_Cop_transporter pfam_Cop_transporter - no_errors SLC31A2 HGNC ENSG00000136867 tier1 - - 73 0 0.00 49 6 10.91 SLC35D1 0 genome.wustl.edu 37 1 67519675 67519675 + Nonsense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 67519675 67519675 G A SNP SLC35D1 ENST00000235345 human ensembl 74_37 -1 known nonsense c.22 p.Q8* 1.000 NULL pfam_Tpt_PEP_trans_dom - no_errors SLC35D1 HGNC ENSG00000116704 tier1 - - 84 0 0.00 55 9 14.06 SLC35D1 0 genome.wustl.edu 37 1 67519675 67519675 + Nonsense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 67519675 67519675 G A SNP SLC35D1 ENST00000235345 human ensembl 74_37 -1 known nonsense c.22 p.Q8* 1.000 NULL pfam_Tpt_PEP_trans_dom - no_errors SLC35D1 HGNC ENSG00000116704 tier1 - - 99 0 0.00 55 9 14.06 SLC39A5 0 genome.wustl.edu 37 12 56631322 56631322 + RNA SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 56631322 56631322 T A SNP SLC39A5 ENST00000419232 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC39A5 HGNC ENSG00000139540 tier1 - - 24 0 0.00 5 6 54.55 SLC39A5 0 genome.wustl.edu 37 12 56631322 56631322 + RNA SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 56631322 56631322 T A SNP SLC39A5 ENST00000419232 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC39A5 HGNC ENSG00000139540 tier1 - - 30 0 0.00 5 6 54.55 SLC39A6 0 genome.wustl.edu 37 18 33692509 33692509 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 33692509 33692509 T C SNP SLC39A6 ENST00000269187 human ensembl 74_37 -1 known missense c.1879 p.S627G 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 53 0 0.00 19 3 13.64 SLC39A7 0 genome.wustl.edu 37 6 33171987 33171987 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 33171987 33171987 G T SNP SLC39A7 ENST00000463972 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors SLC39A7 HGNC ENSG00000112473 tier1 - - 55 0 0.00 31 4 11.43 SLC39A7 0 genome.wustl.edu 37 6 33171987 33171987 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 33171987 33171987 G T SNP SLC39A7 ENST00000463972 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors SLC39A7 HGNC ENSG00000112473 tier1 - - 76 0 0.00 31 4 11.43 SLC44A3 0 genome.wustl.edu 37 1 95286603 95286603 + Nonsense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 95286603 95286603 G A SNP SLC44A3 ENST00000271227 human ensembl 74_37 +1 known nonsense c.126 p.W42* 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A3 HGNC ENSG00000143036 tier1 - - 21 0 0.00 14 8 36.36 SLC44A3 0 genome.wustl.edu 37 1 95286603 95286603 + Nonsense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 95286603 95286603 G A SNP SLC44A3 ENST00000271227 human ensembl 74_37 +1 known nonsense c.126 p.W42* 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A3 HGNC ENSG00000143036 tier1 - - 24 0 0.00 14 8 36.36 SLC45A4 0 genome.wustl.edu 37 8 142222452 142222452 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 142222452 142222452 G C SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known missense c.2145 p.I715M 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 tier1 - - 68 0 0.00 31 14 31.11 SLC45A4 0 genome.wustl.edu 37 8 142222452 142222452 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 142222452 142222452 G C SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known missense c.2145 p.I715M 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 tier1 - - 87 0 0.00 31 14 31.11 SLC6A15 0 genome.wustl.edu 37 12 85267002 85267002 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 85267002 85267002 T G SNP SLC6A15 ENST00000266682 human ensembl 74_37 -1 known missense c.973 p.K325Q 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A15 HGNC ENSG00000072041 tier1 - - 132 0 0.00 103 7 6.36 SLC6A15 0 genome.wustl.edu 37 12 85267002 85267002 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 85267002 85267002 T G SNP SLC6A15 ENST00000266682 human ensembl 74_37 -1 known missense c.973 p.K325Q 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A15 HGNC ENSG00000072041 tier1 - - 85 0 0.00 103 7 6.36 SLC7A11 0 genome.wustl.edu 37 4 139153457 139153457 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 139153457 139153457 C T SNP SLC7A11 ENST00000280612 human ensembl 74_37 -1 known missense c.484 p.E162K 0.996 pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A11 HGNC ENSG00000151012 tier1 - - 57 0 0.00 38 10 20.83 SLC7A11 0 genome.wustl.edu 37 4 139153457 139153457 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 139153457 139153457 C T SNP SLC7A11 ENST00000280612 human ensembl 74_37 -1 known missense c.484 p.E162K 0.996 pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A11 HGNC ENSG00000151012 tier1 - - 91 0 0.00 38 10 20.83 SLC9C1 0 genome.wustl.edu 37 3 111988862 111988862 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 111988862 111988862 T G SNP SLC9C1 ENST00000305815 human ensembl 74_37 -1 known missense c.676 p.S226R 0.006 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 tier1 - - 110 0 0.00 59 6 9.23 SLC9C1 0 genome.wustl.edu 37 3 111988862 111988862 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 111988862 111988862 T G SNP SLC9C1 ENST00000305815 human ensembl 74_37 -1 known missense c.676 p.S226R 0.006 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 tier1 - - 57 0 0.00 59 6 9.23 SLCO1B3 0 genome.wustl.edu 37 12 21007980 21007980 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 21007980 21007980 T A SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.103 p.S35T 0.002 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 tier1 - - 41 0 0.00 40 13 24.53 SLCO1B3 0 genome.wustl.edu 37 12 21007980 21007980 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 21007980 21007980 T A SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.103 p.S35T 0.002 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 tier1 - - 84 0 0.00 40 13 24.53 SLFN5 0 genome.wustl.edu 37 17 33592830 33592830 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 33592830 33592830 G C SNP SLFN5 ENST00000299977 human ensembl 74_37 +1 known missense c.2599 p.A867P 0.000 superfamily_P-loop_NTPase pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN5 HGNC ENSG00000166750 tier1 - - 29 0 0.00 24 4 14.29 SLIT3 0 genome.wustl.edu 37 5 168119626 168119626 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 168119626 168119626 C A SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known silent c.3162 p.L1054 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 tier1 - - 43 0 0.00 19 12 38.71 SLIT3 0 genome.wustl.edu 37 5 168119626 168119626 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 168119626 168119626 C A SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known silent c.3162 p.L1054 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 tier1 - - 70 0 0.00 19 12 38.71 SLIT3 0 genome.wustl.edu 37 5 168119639 168119639 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 168119639 168119639 T G SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.3149 p.K1050T 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 63 0 0.00 27 3 10.00 SMAD4 0 genome.wustl.edu 37 18 48591805 48591805 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 18 48591805 48591805 G T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.968 p.W323L 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 68 0 0.00 36 2 5.26 SMARCA2 0 genome.wustl.edu 37 9 2033024 2033024 + Nonsense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 2033024 2033024 C T SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known nonsense c.298 p.R100* 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 tier1 - - 80 0 0.00 46 4 8.00 SMARCA4 0 genome.wustl.edu 37 19 11144051 11144051 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 11144051 11144051 A C SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.3632 p.E1211A 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 tier1 - - 61 0 0.00 46 4 8.00 SMARCA4 0 genome.wustl.edu 37 19 11144051 11144051 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 11144051 11144051 A C SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.3632 p.E1211A 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 tier1 - - 71 0 0.00 46 4 8.00 SMURF2 0 genome.wustl.edu 37 17 62567980 62567980 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 62567980 62567980 G T SNP SMURF2 ENST00000262435 human ensembl 74_37 -1 known missense c.952 p.H318N 1.000 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors SMURF2 HGNC ENSG00000108854 tier1 - - 49 0 0.00 37 4 9.76 SMURF2 0 genome.wustl.edu 37 17 62567980 62567980 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 62567980 62567980 G T SNP SMURF2 ENST00000262435 human ensembl 74_37 -1 known missense c.952 p.H318N 1.000 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors SMURF2 HGNC ENSG00000108854 tier1 - - 80 0 0.00 37 4 9.76 SNAI1 0 genome.wustl.edu 37 20 48604467 48604467 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 48604467 48604467 G A SNP SNAI1 ENST00000244050 human ensembl 74_37 +1 known silent c.669 p.L223 0.993 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI1 HGNC ENSG00000124216 68 0 0.00 62 4 6.06 SNORD116-29 0 genome.wustl.edu 37 15 25351694 25351694 + RNA SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 25351694 25351694 A G SNP SNORD116-29 ENST00000384516 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD116-29 HGNC ENSG00000207245 tier1 - - 102 0 0.00 49 14 22.22 SNORD116-29 0 genome.wustl.edu 37 15 25351694 25351694 + RNA SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 25351694 25351694 A G SNP SNORD116-29 ENST00000384516 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD116-29 HGNC ENSG00000207245 tier1 - - 123 0 0.00 49 14 22.22 SNRNP48 0 genome.wustl.edu 37 6 7605703 7605703 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 7605703 7605703 G A SNP SNRNP48 ENST00000342415 human ensembl 74_37 +1 known missense c.790 p.E264K 0.053 NULL pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors SNRNP48 HGNC ENSG00000168566 tier1 - - 61 0 0.00 51 5 8.93 SNRNP48 0 genome.wustl.edu 37 6 7605703 7605703 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 7605703 7605703 G A SNP SNRNP48 ENST00000342415 human ensembl 74_37 +1 known missense c.790 p.E264K 0.053 NULL pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors SNRNP48 HGNC ENSG00000168566 tier1 - - 84 0 0.00 51 5 8.93 SOBP 0 genome.wustl.edu 37 6 107955088 107955088 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 107955088 107955088 C T SNP SOBP ENST00000317357 human ensembl 74_37 +1 known missense c.1040 p.T347M 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 tier1 - - 31 0 0.00 12 4 25.00 SOBP 0 genome.wustl.edu 37 6 107955088 107955088 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 107955088 107955088 C T SNP SOBP ENST00000317357 human ensembl 74_37 +1 known missense c.1040 p.T347M 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 tier1 - - 53 0 0.00 12 4 25.00 SOCS4 0 genome.wustl.edu 37 14 55510261 55510261 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 55510261 55510261 C G SNP SOCS4 ENST00000339298 human ensembl 74_37 +1 known missense c.502 p.Q168E 0.007 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC ENSG00000180008 tier1 - - 56 0 0.00 44 30 40.54 SOCS4 0 genome.wustl.edu 37 14 55510261 55510261 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 55510261 55510261 C G SNP SOCS4 ENST00000339298 human ensembl 74_37 +1 known missense c.502 p.Q168E 0.007 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC ENSG00000180008 tier1 - - 76 0 0.00 44 30 40.54 SORCS3 0 genome.wustl.edu 37 10 106960907 106960907 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 106960907 106960907 A C SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.2157 p.K719N 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 tier1 - - 57 0 0.00 38 6 13.64 SORCS3 0 genome.wustl.edu 37 10 106960907 106960907 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 106960907 106960907 A C SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.2157 p.K719N 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 tier1 - - 70 0 0.00 38 6 13.64 SORL1 0 genome.wustl.edu 37 11 121393350 121393350 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 121393350 121393350 T A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.1460 p.L487H 1.000 smart_VPS10 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 tier1 - - 53 0 0.00 17 6 26.09 SORL1 0 genome.wustl.edu 37 11 121393350 121393350 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 121393350 121393350 T A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.1460 p.L487H 1.000 smart_VPS10 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 tier1 - - 63 0 0.00 17 6 26.09 SOX5 0 genome.wustl.edu 37 12 23687309 23687309 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 23687309 23687309 A C SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known silent c.2136 p.T712 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 tier1 - - 37 0 0.00 26 14 35.00 SOX5 0 genome.wustl.edu 37 12 23687309 23687309 + Silent SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 23687309 23687309 A C SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known silent c.2136 p.T712 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 tier1 - - 54 0 0.00 26 14 35.00 SPATA31A3 0 genome.wustl.edu 37 9 40702808 40702808 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 40702808 40702808 G A SNP SPATA31A3 ENST00000356699 human ensembl 74_37 +1 known silent c.465 p.P155 0.000 NULL NULL - no_errors SPATA31A3 HGNC ENSG00000147926 360 0 0.00 153 19 10.98 SPATA31D5P 0 genome.wustl.edu 37 9 84532403 84532403 + RNA SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 84532403 84532403 C G SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D5P HGNC ENSG00000240632 tier1 - - 123 0 0.00 106 19 15.20 SPATA31D5P 0 genome.wustl.edu 37 9 84532403 84532403 + RNA SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 84532403 84532403 C G SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D5P HGNC ENSG00000240632 tier1 - - 77 0 0.00 106 19 15.20 SPATS2L 0 genome.wustl.edu 37 2 201284107 201284107 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 201284107 201284107 C T SNP SPATS2L ENST00000409755 human ensembl 74_37 +1 known silent c.423 p.C141 0.715 pfam_DUF1387 pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2L HGNC ENSG00000196141 tier1 - - 44 0 0.00 26 4 13.33 SPATS2L 0 genome.wustl.edu 37 2 201284107 201284107 + Silent SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 201284107 201284107 C T SNP SPATS2L ENST00000409755 human ensembl 74_37 +1 known silent c.423 p.C141 0.715 pfam_DUF1387 pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2L HGNC ENSG00000196141 tier1 - - 65 0 0.00 26 4 13.33 SPDYE2 0 genome.wustl.edu 37 7 102196355 102196355 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 102196355 102196355 G T SNP SPDYE2 ENST00000507918 human ensembl 74_37 +1 known missense c.388 p.V130L 0.334 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE2 HGNC ENSG00000205238 tier1 - - 22 0 0.00 2 68 97.14 SPEG 0 genome.wustl.edu 37 2 220355177 220355177 + Nonsense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 220355177 220355177 C T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel nonsense c.8968 p.R2990* 0.759 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_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 tier1 - - 63 0 0.00 19 29 60.42 SPEG 0 genome.wustl.edu 37 2 220355177 220355177 + Nonsense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 220355177 220355177 C T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel nonsense c.8968 p.R2990* 0.759 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_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 tier1 - - 66 0 0.00 19 29 60.42 SPHKAP 0 genome.wustl.edu 37 2 228860248 228860248 + Silent SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 228860248 228860248 G C SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known silent c.4611 p.L1537 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 tier1 - - 34 0 0.00 31 13 29.55 SPHKAP 0 genome.wustl.edu 37 2 228860248 228860248 + Silent SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 228860248 228860248 G C SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known silent c.4611 p.L1537 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 tier1 - - 47 0 0.00 31 13 29.55 SPINK5 0 genome.wustl.edu 37 5 147513406 147513406 + Nonsense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 147513406 147513406 G T SNP SPINK5 ENST00000359874 human ensembl 74_37 +1 known nonsense c.3232 p.E1078* 0.866 NULL pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 tier1 - - 104 0 0.00 50 4 7.41 SPINK5 0 genome.wustl.edu 37 5 147513406 147513406 + Nonsense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 147513406 147513406 G T SNP SPINK5 ENST00000359874 human ensembl 74_37 +1 known nonsense c.3232 p.E1078* 0.866 NULL pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 tier1 - - 136 0 0.00 50 4 7.41 SPNS3 0 genome.wustl.edu 37 17 4352620 4352620 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 4352620 4352620 G T SNP SPNS3 ENST00000355530 human ensembl 74_37 +1 known missense c.861 p.E287D 0.481 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS3 HGNC ENSG00000182557 tier1 - - 37 0 0.00 29 4 12.12 SPNS3 0 genome.wustl.edu 37 17 4352620 4352620 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 4352620 4352620 G T SNP SPNS3 ENST00000355530 human ensembl 74_37 +1 known missense c.861 p.E287D 0.481 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS3 HGNC ENSG00000182557 tier1 - - 40 0 0.00 29 4 12.12 SPPL3 0 genome.wustl.edu 37 12 121222277 121222277 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 121222277 121222277 C A SNP SPPL3 ENST00000353487 human ensembl 74_37 -1 known missense c.310 p.V104F 1.000 pfam_Peptidase_A22B_SPP,smart_Preselin/SPP pfam_Peptidase_A22B_SPP,smart_Preselin/SPP - no_errors SPPL3 HGNC ENSG00000157837 tier1 - - 49 0 0.00 46 10 17.86 SPPL3 0 genome.wustl.edu 37 12 121222277 121222277 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 121222277 121222277 C A SNP SPPL3 ENST00000353487 human ensembl 74_37 -1 known missense c.310 p.V104F 1.000 pfam_Peptidase_A22B_SPP,smart_Preselin/SPP pfam_Peptidase_A22B_SPP,smart_Preselin/SPP - no_errors SPPL3 HGNC ENSG00000157837 tier1 - - 58 0 0.00 46 10 17.86 SPTA1 0 genome.wustl.edu 37 1 158617477 158617477 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 158617477 158617477 T C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.3748 p.S1250G 0.311 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 - - 30 0 0.00 13 12 48.00 SPTY2D1 0 genome.wustl.edu 37 11 18637267 18637267 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 18637267 18637267 T A SNP SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known missense c.554 p.E185V 1.000 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 tier1 - - 133 0 0.00 84 16 16.00 SPTY2D1 0 genome.wustl.edu 37 11 18637267 18637267 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 18637267 18637267 T A SNP SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known missense c.554 p.E185V 1.000 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 tier1 - - 91 0 0.00 84 16 16.00 SRP72 0 genome.wustl.edu 37 4 57350944 57350944 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 57350944 57350944 A T SNP SRP72 ENST00000342756 human ensembl 74_37 +1 known missense c.1000 p.S334C 1.000 NULL pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SRP72 HGNC ENSG00000174780 97 0 0.00 54 5 8.47 SRRM2 0 genome.wustl.edu 37 16 2817411 2817411 + Silent SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 2817411 2817411 T G SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known silent c.6882 p.A2294 0.996 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 50 0 0.00 15 13 46.43 SRRM2 0 genome.wustl.edu 37 16 2817411 2817411 + Silent SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 2817411 2817411 T G SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known silent c.6882 p.A2294 0.996 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 60 0 0.00 15 13 46.43 SSTR3 0 genome.wustl.edu 37 22 37602865 37602865 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 37602865 37602865 C A SNP SSTR3 ENST00000328544 human ensembl 74_37 -1 known missense c.978 p.R326S 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_Somatstn_rcpt_3,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt - no_errors SSTR3 HGNC ENSG00000183473 tier1 - - 140 0 0.00 119 9 7.03 SSTR3 0 genome.wustl.edu 37 22 37602865 37602865 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 37602865 37602865 C A SNP SSTR3 ENST00000328544 human ensembl 74_37 -1 known missense c.978 p.R326S 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_Somatstn_rcpt_3,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt - no_errors SSTR3 HGNC ENSG00000183473 tier1 - - 175 0 0.00 119 9 7.03 SSUH2 0 genome.wustl.edu 37 3 8661589 8661589 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 8661589 8661589 G T SNP SSUH2 ENST00000544814 human ensembl 74_37 -1 known missense c.1093 p.P365T 1.000 NULL superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 tier1 - - 57 0 0.00 49 4 7.41 SSUH2 0 genome.wustl.edu 37 3 8661589 8661589 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 8661589 8661589 G T SNP SSUH2 ENST00000544814 human ensembl 74_37 -1 known missense c.1093 p.P365T 1.000 NULL superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 tier1 - - 82 0 0.00 49 4 7.41 ST3GAL6 0 genome.wustl.edu 37 3 98490000 98490000 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 98490000 98490000 A G SNP ST3GAL6 ENST00000469105 human ensembl 74_37 +1 known missense c.203 p.E68G 0.175 NULL NULL - no_errors ST3GAL6 HGNC ENSG00000064225 tier1 - - 51 0 0.00 63 6 8.70 ST3GAL6 0 genome.wustl.edu 37 3 98490000 98490000 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 98490000 98490000 A G SNP ST3GAL6 ENST00000469105 human ensembl 74_37 +1 known missense c.203 p.E68G 0.175 NULL NULL - no_errors ST3GAL6 HGNC ENSG00000064225 tier1 - - 97 0 0.00 63 6 8.70 ST5 0 genome.wustl.edu 37 11 8751710 8751710 + Nonsense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 8751710 8751710 G T SNP ST5 ENST00000313726 human ensembl 74_37 -1 known nonsense c.1127 p.S376* 0.055 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 ST5 HGNC ENSG00000166444 113 0 0.00 61 5 7.58 STIP1 0 genome.wustl.edu 37 11 63953410 63953410 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 63953410 63953410 A C SNP STIP1 ENST00000358794 human ensembl 74_37 +1 putative missense c.114 p.E38D 0.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STIP1 HGNC ENSG00000168439 tier1 - - 63 0 0.00 47 5 9.62 STIP1 0 genome.wustl.edu 37 11 63953410 63953410 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 63953410 63953410 A C SNP STIP1 ENST00000358794 human ensembl 74_37 +1 putative missense c.114 p.E38D 0.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STIP1 HGNC ENSG00000168439 tier1 - - 87 0 0.00 47 5 9.62 STK33 0 genome.wustl.edu 37 11 8494710 8494710 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 8494710 8494710 C A SNP STK33 ENST00000315204 human ensembl 74_37 -1 known missense c.339 p.E113D 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK33 HGNC ENSG00000130413 68 0 0.00 55 4 6.78 STK36 0 genome.wustl.edu 37 2 219557002 219557002 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 219557002 219557002 T C SNP STK36 ENST00000295709 human ensembl 74_37 +1 known missense c.1901 p.V634A 0.995 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK36 HGNC ENSG00000163482 tier1 - - 37 0 0.00 23 6 20.69 STK36 0 genome.wustl.edu 37 2 219557002 219557002 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 219557002 219557002 T C SNP STK36 ENST00000295709 human ensembl 74_37 +1 known missense c.1901 p.V634A 0.995 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK36 HGNC ENSG00000163482 tier1 - - 38 0 0.00 23 6 20.69 STRA8 0 genome.wustl.edu 37 7 134916754 134916754 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 134916754 134916754 G T SNP STRA8 ENST00000275764 human ensembl 74_37 +1 known missense c.24 p.K8N 0.024 NULL superfamily_bHLH_dom - no_errors STRA8 HGNC ENSG00000146857 71 0 0.00 33 2 5.71 STT3A 0 genome.wustl.edu 37 11 125482887 125482887 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 125482887 125482887 G T SNP STT3A ENST00000392708 human ensembl 74_37 +1 known missense c.1369 p.A457S 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3A HGNC ENSG00000134910 tier1 - - 56 0 0.00 40 8 16.33 STX18 0 genome.wustl.edu 37 4 4422615 4422615 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 4422615 4422615 C A SNP STX18 ENST00000306200 human ensembl 74_37 -1 known missense c.888 p.K296N 0.999 NULL pfam_Syntaxin-18_N - no_errors STX18 HGNC ENSG00000168818 tier1 - - 134 0 0.00 49 11 18.03 STX18 0 genome.wustl.edu 37 4 4422615 4422615 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 4422615 4422615 C A SNP STX18 ENST00000306200 human ensembl 74_37 -1 known missense c.888 p.K296N 0.999 NULL pfam_Syntaxin-18_N - no_errors STX18 HGNC ENSG00000168818 tier1 - - 84 0 0.00 49 11 18.03 SULT6B1 0 genome.wustl.edu 37 2 37410582 37410582 + Nonsense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 37410582 37410582 C A SNP SULT6B1 ENST00000535679 human ensembl 74_37 -1 known nonsense c.388 p.E130* 0.676 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT6B1 HGNC ENSG00000138068 tier1 - - 37 0 0.00 55 4 6.78 SULT6B1 0 genome.wustl.edu 37 2 37410582 37410582 + Nonsense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 37410582 37410582 C A SNP SULT6B1 ENST00000535679 human ensembl 74_37 -1 known nonsense c.388 p.E130* 0.676 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT6B1 HGNC ENSG00000138068 tier1 - - 64 0 0.00 55 4 6.78 SUSD2 0 genome.wustl.edu 37 22 24581898 24581898 + Splice_Site SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 24581898 24581898 G T SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known splice_site c.1339+1 e8+1 1.000 - - - no_errors SUSD2 HGNC ENSG00000099994 82 0 0.00 25 3 10.71 SYNJ2 0 genome.wustl.edu 37 6 158510932 158510932 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 158510932 158510932 C T SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known missense c.3518 p.A1173V 0.823 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 tier1 - - 38 0 0.00 38 5 11.63 SYNJ2 0 genome.wustl.edu 37 6 158510932 158510932 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 158510932 158510932 C T SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known missense c.3518 p.A1173V 0.823 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 tier1 - - 46 0 0.00 38 5 11.63 TACC2 0 genome.wustl.edu 37 10 123846540 123846540 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 123846540 123846540 T G SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.4525 p.L1509V 0.036 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 tier1 - - 65 0 0.00 33 9 20.93 TAF3 0 genome.wustl.edu 37 10 8005880 8005881 + Splice_Site INS - - AGA TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 8005880 8005881 - AGA INS TAF3 ENST00000344293 human ensembl 74_37 +1 known splice_site_ins c.410-3_410-2 e3-2 0.602:1.000 - - - no_errors TAF3 HGNC ENSG00000165632 tier1 29 0 0.00 22 4 15.38 TAF3 0 genome.wustl.edu 37 10 8005880 8005881 + Splice_Site INS - - AGA TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 8005880 8005881 - AGA INS TAF3 ENST00000344293 human ensembl 74_37 +1 known splice_site_ins c.410-3_410-2 e3-2 0.602:1.000 - - - no_errors TAF3 HGNC ENSG00000165632 tier1 33 0 0.00 22 4 15.38 TANK 0 genome.wustl.edu 37 2 162036360 162036360 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 162036360 162036360 G T SNP TANK ENST00000463502 human ensembl 74_37 +1 putative rna NULL NULL 0.073 - - - no_errors TANK HGNC ENSG00000136560 tier1 - - 31 0 0.00 38 7 15.56 TANK 0 genome.wustl.edu 37 2 162036360 162036360 + RNA SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 162036360 162036360 G T SNP TANK ENST00000463502 human ensembl 74_37 +1 putative rna NULL NULL 0.073 - - - no_errors TANK HGNC ENSG00000136560 tier1 - - 45 0 0.00 38 7 15.56 TANK 0 genome.wustl.edu 37 2 162036361 162036361 + RNA SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 162036361 162036361 A T SNP TANK ENST00000463502 human ensembl 74_37 +1 putative rna NULL NULL 0.092 - - - no_errors TANK HGNC ENSG00000136560 tier1 - - 31 0 0.00 38 7 15.56 TANK 0 genome.wustl.edu 37 2 162036361 162036361 + RNA SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 162036361 162036361 A T SNP TANK ENST00000463502 human ensembl 74_37 +1 putative rna NULL NULL 0.092 - - - no_errors TANK HGNC ENSG00000136560 tier1 - - 45 0 0.00 38 7 15.56 TAS1R2 0 genome.wustl.edu 37 1 19181144 19181144 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 19181144 19181144 C T SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel missense c.820 p.V274M 0.087 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 33 0 0.00 17 3 15.00 TAS2R30 0 genome.wustl.edu 37 12 11286090 11286090 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 11286090 11286090 A T SNP TAS2R30 ENST00000539585 human ensembl 74_37 -1 known missense c.754 p.F252I 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R30 HGNC ENSG00000256188 tier1 - - 156 0 0.00 105 32 23.36 TAS2R30 0 genome.wustl.edu 37 12 11286090 11286090 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 11286090 11286090 A T SNP TAS2R30 ENST00000539585 human ensembl 74_37 -1 known missense c.754 p.F252I 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R30 HGNC ENSG00000256188 tier1 - - 182 0 0.00 105 32 23.36 TAS2R46 0 genome.wustl.edu 37 12 11214685 11214685 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 11214685 11214685 T G SNP TAS2R46 ENST00000533467 human ensembl 74_37 -1 known missense c.209 p.E70A 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R46 HGNC ENSG00000226761 tier1 - - 73 0 0.00 68 32 32.00 TAS2R46 0 genome.wustl.edu 37 12 11214685 11214685 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 11214685 11214685 T G SNP TAS2R46 ENST00000533467 human ensembl 74_37 -1 known missense c.209 p.E70A 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R46 HGNC ENSG00000226761 tier1 - - 96 0 0.00 68 32 32.00 TATDN1 0 genome.wustl.edu 37 8 125531026 125531027 + Frame_Shift_Ins INS - - T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 125531026 125531027 - T INS TATDN1 ENST00000520938 human ensembl 74_37 -1 known frame_shift_ins c.187_186 p.*62fs 0.019:0.004 NULL NULL - no_errors TATDN1 HGNC ENSG00000147687 tier1 20 0 0.00 22 4 15.38 TBC1D2B 0 genome.wustl.edu 37 15 78317636 78317636 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 78317636 78317636 G A SNP TBC1D2B ENST00000300584 human ensembl 74_37 -1 known silent c.1051 p.L351 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2B HGNC ENSG00000167202 tier1 - - 79 0 0.00 33 5 13.16 TBC1D2B 0 genome.wustl.edu 37 15 78317636 78317636 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 78317636 78317636 G A SNP TBC1D2B ENST00000300584 human ensembl 74_37 -1 known silent c.1051 p.L351 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2B HGNC ENSG00000167202 tier1 - - 89 0 0.00 33 5 13.16 TBC1D9 0 genome.wustl.edu 37 4 141583207 141583207 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 141583207 141583207 T A SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known missense c.1643 p.K548M 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 tier1 - - 130 0 0.00 74 9 10.84 TBC1D9 0 genome.wustl.edu 37 4 141583207 141583207 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 141583207 141583207 T A SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known missense c.1643 p.K548M 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 tier1 - - 81 0 0.00 74 9 10.84 TBX22 0 genome.wustl.edu 37 X 79286419 79286419 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 79286419 79286419 T C SNP TBX22 ENST00000373294 human ensembl 74_37 +1 known missense c.1372 p.S458P 0.023 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 tier1 - - 17 0 0.00 12 15 55.56 TBX22 0 genome.wustl.edu 37 X 79286419 79286419 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 79286419 79286419 T C SNP TBX22 ENST00000373294 human ensembl 74_37 +1 known missense c.1372 p.S458P 0.023 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 tier1 - - 39 0 0.00 12 15 55.56 TBX5 0 genome.wustl.edu 37 12 114836398 114836398 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 114836398 114836398 G C SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.490 p.H164D 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 tier1 - - 110 0 0.00 79 9 10.23 TBX5 0 genome.wustl.edu 37 12 114836398 114836398 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 114836398 114836398 G C SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.490 p.H164D 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 tier1 - - 87 0 0.00 79 9 10.23 TDRD7 0 genome.wustl.edu 37 9 100234625 100234625 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 100234625 100234625 T C SNP TDRD7 ENST00000355295 human ensembl 74_37 +1 known silent c.1792 p.L598 0.024 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 tier1 - - 62 0 0.00 69 20 22.47 TDRD7 0 genome.wustl.edu 37 9 100234625 100234625 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 100234625 100234625 T C SNP TDRD7 ENST00000355295 human ensembl 74_37 +1 known silent c.1792 p.L598 0.024 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 tier1 - - 86 0 0.00 69 20 22.47 TEKT5 0 genome.wustl.edu 37 16 10721434 10721434 + RNA SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 10721434 10721434 C T SNP TEKT5 ENST00000574923 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TEKT5 HGNC ENSG00000153060 tier1 - - 48 0 0.00 30 17 35.42 TEKT5 0 genome.wustl.edu 37 16 10721434 10721434 + RNA SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 10721434 10721434 C T SNP TEKT5 ENST00000574923 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TEKT5 HGNC ENSG00000153060 tier1 - - 56 0 0.00 30 17 35.42 TENM1 0 genome.wustl.edu 37 X 123657383 123657383 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 123657383 123657383 C G SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.2864 p.W955S 1.000 superfamily_CarboxyPept-like_regulatory pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 tier1 - - 54 0 0.00 31 25 44.64 TENM1 0 genome.wustl.edu 37 X 123657383 123657383 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 123657383 123657383 C G SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.2864 p.W955S 1.000 superfamily_CarboxyPept-like_regulatory pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 tier1 - - 56 0 0.00 31 25 44.64 TENM3 0 genome.wustl.edu 37 4 183271178 183271178 + RNA SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 183271178 183271178 T G SNP TENM3 ENST00000513201 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors TENM3 HGNC ENSG00000218336 tier1 - - 22 0 0.00 10 4 28.57 TERF2 0 genome.wustl.edu 37 16 69395378 69395378 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 69395378 69395378 T G SNP TERF2 ENST00000254942 human ensembl 74_37 -1 known missense c.1355 p.K452T 1.000 pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF2 HGNC ENSG00000132604 tier1 - - 68 0 0.00 57 4 6.56 TERF2 0 genome.wustl.edu 37 16 69395378 69395378 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 69395378 69395378 T G SNP TERF2 ENST00000254942 human ensembl 74_37 -1 known missense c.1355 p.K452T 1.000 pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF2 HGNC ENSG00000132604 tier1 - - 74 0 0.00 57 4 6.56 TESPA1 0 genome.wustl.edu 37 12 55357537 55357537 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 55357537 55357537 A G SNP TESPA1 ENST00000316577 human ensembl 74_37 -1 known missense c.644 p.L215P 1.000 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 tier1 - - 102 0 0.00 57 4 6.56 TESPA1 0 genome.wustl.edu 37 12 55357537 55357537 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 55357537 55357537 A G SNP TESPA1 ENST00000316577 human ensembl 74_37 -1 known missense c.644 p.L215P 1.000 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 tier1 - - 71 0 0.00 57 4 6.56 TET1 0 genome.wustl.edu 37 10 70446324 70446324 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 70446324 70446324 G C SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.5264 p.G1755A 0.922 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 tier1 - - 86 0 0.00 70 16 18.60 TET1 0 genome.wustl.edu 37 10 70446325 70446325 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 70446325 70446325 A G SNP TET1 ENST00000373644 human ensembl 74_37 +1 known silent c.5265 p.G1755 0.928 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 tier1 - - 101 0 0.00 71 16 18.39 TET1 0 genome.wustl.edu 37 10 70446325 70446325 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 70446325 70446325 A G SNP TET1 ENST00000373644 human ensembl 74_37 +1 known silent c.5265 p.G1755 0.928 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 tier1 - - 86 0 0.00 71 16 18.39 TET1 0 genome.wustl.edu 37 10 70450805 70450805 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 70450805 70450805 C T SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.5645 p.T1882M 0.012 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 tier1 - - 34 0 0.00 13 13 50.00 TET1 0 genome.wustl.edu 37 10 70450805 70450805 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 70450805 70450805 C T SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.5645 p.T1882M 0.012 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 tier1 - - 37 0 0.00 13 13 50.00 TEX11 0 genome.wustl.edu 37 X 69902540 69902540 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 69902540 69902540 A C SNP TEX11 ENST00000344304 human ensembl 74_37 -1 known missense c.1185 p.I395M 1.000 pfam_Meiosis_specific_SPO22 pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC ENSG00000120498 tier1 - - 62 0 0.00 91 14 13.21 TEX15 0 genome.wustl.edu 37 8 30702827 30702827 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 30702827 30702827 G T SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.3707 p.S1236Y 0.023 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 32 0 0.00 23 2 8.00 TF 0 genome.wustl.edu 37 3 133485146 133485146 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 133485146 133485146 A C SNP TF ENST00000402696 human ensembl 74_37 +1 known missense c.1355 p.K452T 0.996 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 tier1 - - 44 0 0.00 49 4 7.55 TF 0 genome.wustl.edu 37 3 133485146 133485146 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 133485146 133485146 A C SNP TF ENST00000402696 human ensembl 74_37 +1 known missense c.1355 p.K452T 0.996 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 tier1 - - 69 0 0.00 49 4 7.55 TFIP11 0 genome.wustl.edu 37 22 26890888 26890888 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 22 26890888 26890888 G T SNP TFIP11 ENST00000405938 human ensembl 74_37 -1 known missense c.1867 p.L623I 0.319 pfam_GCFC_dom pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors TFIP11 HGNC ENSG00000100109 tier1 - - 79 0 0.00 64 4 5.88 TGFB2 0 genome.wustl.edu 37 1 218614815 218614815 + RNA SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 218614815 218614815 G C SNP TGFB2 ENST00000479322 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TGFB2 HGNC ENSG00000092969 tier1 - - 49 0 0.00 82 8 8.89 TGFB2 0 genome.wustl.edu 37 1 218614815 218614815 + RNA SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 218614815 218614815 G C SNP TGFB2 ENST00000479322 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TGFB2 HGNC ENSG00000092969 tier1 - - 84 0 0.00 82 8 8.89 THOC2 0 genome.wustl.edu 37 X 122734687 122734687 + RNA SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 122734687 122734687 A G SNP THOC2 ENST00000492203 human ensembl 74_37 -1 known rna NULL NULL 0.252 - - - no_errors THOC2 HGNC ENSG00000125676 tier1 - - 37 0 0.00 61 15 19.74 THOC2 0 genome.wustl.edu 37 X 122734687 122734687 + RNA SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 122734687 122734687 A G SNP THOC2 ENST00000492203 human ensembl 74_37 -1 known rna NULL NULL 0.252 - - - no_errors THOC2 HGNC ENSG00000125676 tier1 - - 59 0 0.00 61 15 19.74 THSD4 0 genome.wustl.edu 37 15 72040778 72040778 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 72040778 72040778 G A SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known missense c.2260 p.V754M 0.824 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 tier1 - - 108 0 0.00 76 8 9.52 THSD4 0 genome.wustl.edu 37 15 72040778 72040778 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 72040778 72040778 G A SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known missense c.2260 p.V754M 0.824 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 tier1 - - 137 0 0.00 76 8 9.52 TIAM1 0 genome.wustl.edu 37 21 32503209 32503209 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 21 32503209 32503209 A C SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.3941 p.L1314R 1.000 smart_Pleckstrin_homology 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 - - 48 0 0.00 38 29 43.28 TIAM1 0 genome.wustl.edu 37 21 32503209 32503209 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 21 32503209 32503209 A C SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.3941 p.L1314R 1.000 smart_Pleckstrin_homology 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 - - 80 0 0.00 38 29 43.28 TIGD3 0 genome.wustl.edu 37 11 65123463 65123463 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 65123463 65123463 G A SNP TIGD3 ENST00000309880 human ensembl 74_37 +1 known missense c.184 p.G62S 1.000 superfamily_Homeodomain-like pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD3 HGNC ENSG00000173825 tier1 rs142471374 - 72 0 0.00 28 8 22.22 TIGD3 0 genome.wustl.edu 37 11 65123463 65123463 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 65123463 65123463 G A SNP TIGD3 ENST00000309880 human ensembl 74_37 +1 known missense c.184 p.G62S 1.000 superfamily_Homeodomain-like pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD3 HGNC ENSG00000173825 tier1 rs142471374 - 76 0 0.00 28 8 22.22 TJP1 0 genome.wustl.edu 37 15 30065440 30065440 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 30065440 30065440 G C SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.205 p.L69V 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 tier1 - - 66 0 0.00 26 6 18.75 TJP1 0 genome.wustl.edu 37 15 30065440 30065440 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 30065440 30065440 G C SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.205 p.L69V 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 tier1 - - 75 0 0.00 26 6 18.75 TMEM200A 0 genome.wustl.edu 37 6 130761774 130761774 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 130761774 130761774 G T SNP TMEM200A ENST00000296978 human ensembl 74_37 +1 known silent c.207 p.V69 0.880 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC ENSG00000164484 tier1 - - 71 0 0.00 54 4 6.90 TMEM200A 0 genome.wustl.edu 37 6 130761774 130761774 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 130761774 130761774 G T SNP TMEM200A ENST00000296978 human ensembl 74_37 +1 known silent c.207 p.V69 0.880 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC ENSG00000164484 tier1 - - 74 0 0.00 54 4 6.90 TMEM86B 0 genome.wustl.edu 37 19 55738621 55738621 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 55738621 55738621 C G SNP TMEM86B ENST00000327042 human ensembl 74_37 -1 known missense c.609 p.M203I 1.000 pfam_YhhN pfam_YhhN - no_errors TMEM86B HGNC ENSG00000180089 tier1 - - 85 0 0.00 29 37 56.06 TMEM86B 0 genome.wustl.edu 37 19 55738621 55738621 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 55738621 55738621 C G SNP TMEM86B ENST00000327042 human ensembl 74_37 -1 known missense c.609 p.M203I 1.000 pfam_YhhN pfam_YhhN - no_errors TMEM86B HGNC ENSG00000180089 tier1 - - 86 0 0.00 29 37 56.06 TMLHE 0 genome.wustl.edu 37 X 154736754 154736754 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 154736754 154736754 C A SNP TMLHE ENST00000334398 human ensembl 74_37 -1 known missense c.800 p.G267V 1.000 pfam_Taurine_dOase,tigrfam_Trimethyllysine_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase - no_errors TMLHE HGNC ENSG00000185973 tier1 - - 38 0 0.00 52 4 7.14 TMLHE 0 genome.wustl.edu 37 X 154736754 154736754 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 154736754 154736754 C A SNP TMLHE ENST00000334398 human ensembl 74_37 -1 known missense c.800 p.G267V 1.000 pfam_Taurine_dOase,tigrfam_Trimethyllysine_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase - no_errors TMLHE HGNC ENSG00000185973 tier1 - - 44 0 0.00 52 4 7.14 TNFAIP1 0 genome.wustl.edu 37 17 26667392 26667392 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 26667392 26667392 G C SNP TNFAIP1 ENST00000226225 human ensembl 74_37 +1 known missense c.263 p.R88P 1.000 pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors TNFAIP1 HGNC ENSG00000109079 tier1 - - 68 0 0.00 66 16 19.51 TNFAIP1 0 genome.wustl.edu 37 17 26667392 26667392 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 26667392 26667392 G C SNP TNFAIP1 ENST00000226225 human ensembl 74_37 +1 known missense c.263 p.R88P 1.000 pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors TNFAIP1 HGNC ENSG00000109079 tier1 - - 89 0 0.00 66 16 19.51 TNK2 0 genome.wustl.edu 37 3 195594074 195594074 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 195594074 195594074 C A SNP TNK2 ENST00000333602 human ensembl 74_37 -1 known missense c.2948 p.G983V 0.921 superfamily_UBA-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNK2 HGNC ENSG00000061938 tier1 - - 59 0 0.00 47 15 24.19 TNK2 0 genome.wustl.edu 37 3 195594074 195594074 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 195594074 195594074 C A SNP TNK2 ENST00000333602 human ensembl 74_37 -1 known missense c.2948 p.G983V 0.921 superfamily_UBA-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNK2 HGNC ENSG00000061938 tier1 - - 75 0 0.00 47 15 24.19 TP53 0 genome.wustl.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 7577099 7577099 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.839 p.R280K 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 45 0 0.00 7 18 72.00 TP53 0 genome.wustl.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 7577099 7577099 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.839 p.R280K 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 52 0 0.00 7 18 72.00 TRAF4 0 genome.wustl.edu 37 17 27071173 27071173 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 27071173 27071173 C G SNP TRAF4 ENST00000262395 human ensembl 74_37 +1 known missense c.43 p.R15G 1.000 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF4 HGNC ENSG00000076604 tier1 - - 23 0 0.00 13 5 27.78 TRAF4 0 genome.wustl.edu 37 17 27071173 27071173 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 27071173 27071173 C G SNP TRAF4 ENST00000262395 human ensembl 74_37 +1 known missense c.43 p.R15G 1.000 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF4 HGNC ENSG00000076604 tier1 - - 25 0 0.00 13 5 27.78 TRERF1 0 genome.wustl.edu 37 6 42237087 42237087 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 42237087 42237087 C G SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known missense c.242 p.R81T 0.995 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 tier1 - - 73 0 0.00 51 6 10.53 TRERF1 0 genome.wustl.edu 37 6 42237087 42237087 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 42237087 42237087 C G SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known missense c.242 p.R81T 0.995 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 tier1 - - 74 0 0.00 51 6 10.53 TRHDE 0 genome.wustl.edu 37 12 73056836 73056836 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 73056836 73056836 A T SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.2936 p.K979M 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 tier1 - - 55 0 0.00 42 10 19.23 TRHDE 0 genome.wustl.edu 37 12 73056836 73056836 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 73056836 73056836 A T SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.2936 p.K979M 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 tier1 - - 61 0 0.00 42 10 19.23 TRIB3 0 genome.wustl.edu 37 20 377156 377156 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 377156 377156 C T SNP TRIB3 ENST00000422053 human ensembl 74_37 +1 known missense c.980 p.P327L 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors TRIB3 HGNC ENSG00000101255 tier1 - - 33 0 0.00 27 10 27.03 TRIB3 0 genome.wustl.edu 37 20 377156 377156 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 377156 377156 C T SNP TRIB3 ENST00000422053 human ensembl 74_37 +1 known missense c.980 p.P327L 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors TRIB3 HGNC ENSG00000101255 tier1 - - 58 0 0.00 27 10 27.03 TRMT11 0 genome.wustl.edu 37 6 126332443 126332443 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 126332443 126332443 A C SNP TRMT11 ENST00000334379 human ensembl 74_37 +1 known missense c.805 p.N269H 1.000 pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11 pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11,prints_N12N6_MeTrfase - no_errors TRMT11 HGNC ENSG00000066651 tier1 - - 106 0 0.00 89 15 14.42 TRMT11 0 genome.wustl.edu 37 6 126332443 126332443 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 126332443 126332443 A C SNP TRMT11 ENST00000334379 human ensembl 74_37 +1 known missense c.805 p.N269H 1.000 pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11 pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11,prints_N12N6_MeTrfase - no_errors TRMT11 HGNC ENSG00000066651 tier1 - - 132 0 0.00 89 15 14.42 TRPA1 0 genome.wustl.edu 37 8 72964920 72964920 + Silent SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 72964920 72964920 G C SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known silent c.1725 p.V575 0.682 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 64 0 0.00 54 17 23.94 TRPA1 0 genome.wustl.edu 37 8 72964920 72964920 + Silent SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 72964920 72964920 G C SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known silent c.1725 p.V575 0.682 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 77 0 0.00 54 17 23.94 TRPC7 0 genome.wustl.edu 37 5 135692654 135692654 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 135692654 135692654 G A SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.422 p.P141L 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 tier1 - - 16 0 0.00 4 4 50.00 TRPC7 0 genome.wustl.edu 37 5 135692654 135692654 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 135692654 135692654 G A SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.422 p.P141L 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 tier1 - - 21 0 0.00 4 4 50.00 TRPM1 0 genome.wustl.edu 37 15 31355402 31355402 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 15 31355402 31355402 G T SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.935 p.P312H 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 tier1 - - 77 0 0.00 49 4 7.55 TRPM2 0 genome.wustl.edu 37 21 45833815 45833815 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 21 45833815 45833815 G A SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known missense c.3004 p.D1002N 0.971 pfam_Ion_trans_dom pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 68 0 0.00 38 2 5.00 TSPAN6 0 genome.wustl.edu 37 X 99891563 99891563 + RNA DEL G G - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 99891563 99891563 G - DEL TSPAN6 ENST00000496771 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TSPAN6 HGNC ENSG00000000003 tier1 100 0 0.00 76 12 13.64 TSSC1 0 genome.wustl.edu 37 2 3212447 3212447 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 3212447 3212447 C G SNP TSSC1 ENST00000443925 human ensembl 74_37 -1 putative missense c.798 p.L266F 0.005 NULL superfamily_WD40_repeat_dom - no_errors TSSC1 HGNC ENSG00000032389 tier1 - - 76 0 0.00 57 6 9.52 TTC21B 0 genome.wustl.edu 37 2 166781103 166781103 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 166781103 166781103 A G SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known missense c.1472 p.L491P 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 tier1 - - 121 0 0.00 67 6 8.22 TTC21B 0 genome.wustl.edu 37 2 166781103 166781103 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 166781103 166781103 A G SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known missense c.1472 p.L491P 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 tier1 - - 68 0 0.00 67 6 8.22 TTC23L 0 genome.wustl.edu 37 5 34839360 34839360 + RNA SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 34839360 34839360 C A SNP TTC23L ENST00000514080 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTC23L HGNC ENSG00000205838 tier1 - - 38 0 0.00 32 9 21.95 TTC23L 0 genome.wustl.edu 37 5 34839360 34839360 + RNA SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 34839360 34839360 C A SNP TTC23L ENST00000514080 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTC23L HGNC ENSG00000205838 tier1 - - 53 0 0.00 32 9 21.95 TTN 0 genome.wustl.edu 37 2 179439225 179439225 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 179439225 179439225 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.63930 p.K21310N 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 37 0 0.00 40 7 14.89 TTN 0 genome.wustl.edu 37 2 179439225 179439225 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 179439225 179439225 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.63930 p.K21310N 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 54 0 0.00 40 7 14.89 TTN 0 genome.wustl.edu 37 2 179606379 179606379 + Frame_Shift_Del DEL T T - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 179606379 179606379 T - DEL TTN ENST00000342175 human ensembl 74_37 -1 known frame_shift_del c.11068 p.T3690fs 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 48 0 0.00 23 23 50.00 TTN 0 genome.wustl.edu 37 2 179606379 179606379 + Frame_Shift_Del DEL T T - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 179606379 179606379 T - DEL TTN ENST00000342175 human ensembl 74_37 -1 known frame_shift_del c.11068 p.T3690fs 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 57 0 0.00 23 23 50.00 TTN 0 genome.wustl.edu 37 2 179583986 179583986 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 179583986 179583986 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.20399 p.L6800R 0.851 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 83 0 0.00 30 2 6.25 TULP4 0 genome.wustl.edu 37 6 158923470 158923470 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 158923470 158923470 G A SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known silent c.2775 p.L925 1.000 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 tier1 - - 104 0 0.00 35 25 41.67 TULP4 0 genome.wustl.edu 37 6 158923470 158923470 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 158923470 158923470 G A SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known silent c.2775 p.L925 1.000 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 tier1 - - 108 0 0.00 35 25 41.67 UBAC2 0 genome.wustl.edu 37 13 99970286 99970286 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 13 99970286 99970286 C G SNP UBAC2 ENST00000376440 human ensembl 74_37 +1 known missense c.419 p.S140C 1.000 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC2 HGNC ENSG00000134882 tier1 - - 52 0 0.00 29 19 39.58 UBAC2 0 genome.wustl.edu 37 13 99970286 99970286 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 13 99970286 99970286 C G SNP UBAC2 ENST00000376440 human ensembl 74_37 +1 known missense c.419 p.S140C 1.000 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC2 HGNC ENSG00000134882 tier1 - - 83 0 0.00 29 19 39.58 UBQLNL 0 genome.wustl.edu 37 11 5537370 5537370 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 5537370 5537370 T G SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative missense c.302 p.K101T 1.000 pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 tier1 - - 30 0 0.00 16 8 33.33 UBQLNL 0 genome.wustl.edu 37 11 5537370 5537370 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 5537370 5537370 T G SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative missense c.302 p.K101T 1.000 pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 tier1 - - 32 0 0.00 16 8 33.33 UCN2 0 genome.wustl.edu 37 3 48600362 48600362 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 48600362 48600362 G T SNP UCN2 ENST00000273610 human ensembl 74_37 -1 known missense c.196 p.R66S 0.000 NULL pfam_Urocortin_II/III - no_errors UCN2 HGNC ENSG00000145040 47 0 0.00 27 2 6.90 UGT3A2 0 genome.wustl.edu 37 5 36051985 36051985 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 36051985 36051985 T A SNP UGT3A2 ENST00000282507 human ensembl 74_37 -1 known missense c.298 p.T100S 0.001 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 tier1 - - 169 0 0.00 86 17 16.50 UGT3A2 0 genome.wustl.edu 37 5 36051985 36051985 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 36051985 36051985 T A SNP UGT3A2 ENST00000282507 human ensembl 74_37 -1 known missense c.298 p.T100S 0.001 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 tier1 - - 84 0 0.00 86 17 16.50 UMOD 0 genome.wustl.edu 37 16 20360192 20360192 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 20360192 20360192 T C SNP UMOD ENST00000424589 human ensembl 74_37 -1 known missense c.530 p.D177G 0.996 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors UMOD HGNC ENSG00000169344 tier1 - - 76 0 0.00 47 5 9.62 UNC13A 0 genome.wustl.edu 37 19 17780382 17780382 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 17780382 17780382 G T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.638 p.T213K 1.000 superfamily_C2_dom pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 59 0 0.00 36 2 5.26 USH2A 0 genome.wustl.edu 37 1 216074201 216074201 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 216074201 216074201 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.7347 p.T2449 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 - - 59 0 0.00 48 24 33.33 USH2A 0 genome.wustl.edu 37 1 216074201 216074201 + Silent SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 216074201 216074201 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.7347 p.T2449 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 - - 71 0 0.00 48 24 33.33 USH2A 0 genome.wustl.edu 37 1 216373122 216373122 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 216373122 216373122 C G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.3658 p.V1220L 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 - - 101 0 0.00 63 9 12.50 USH2A 0 genome.wustl.edu 37 1 216373122 216373122 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 216373122 216373122 C G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.3658 p.V1220L 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 - - 54 0 0.00 63 9 12.50 USP17L2 0 genome.wustl.edu 37 8 11996188 11996188 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 11996188 11996188 C T SNP USP17L2 ENST00000333796 human ensembl 74_37 -1 known missense c.82 p.A28T 0.028 NULL pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L2 HGNC ENSG00000223443 216 0 0.00 114 8 6.56 USP46 0 genome.wustl.edu 37 4 53470744 53470744 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 53470744 53470744 G A SNP USP46 ENST00000441222 human ensembl 74_37 -1 known silent c.645 p.F215 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP46 HGNC ENSG00000109189 tier1 - - 122 0 0.00 59 21 26.25 USP46 0 genome.wustl.edu 37 4 53470744 53470744 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 53470744 53470744 G A SNP USP46 ENST00000441222 human ensembl 74_37 -1 known silent c.645 p.F215 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP46 HGNC ENSG00000109189 tier1 - - 74 0 0.00 59 21 26.25 USP54 0 genome.wustl.edu 37 10 75294426 75294426 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 75294426 75294426 G T SNP USP54 ENST00000339859 human ensembl 74_37 -1 known missense c.1247 p.S416Y 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 tier1 - - 89 0 0.00 71 4 5.33 VAPB 0 genome.wustl.edu 37 20 57020741 57020744 + RNA DEL TGTG TGTG - TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 TGTG TGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 57020741 57020744 TGTG - DEL VAPB ENST00000265619 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001:0.000:0.000 - - - no_errors VAPB HGNC ENSG00000124164 tier1 20 0 0.00 34 4 10.53 VASH1 0 genome.wustl.edu 37 14 77236248 77236248 + RNA SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 77236248 77236248 G A SNP VASH1 ENST00000556038 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors VASH1 HGNC ENSG00000071246 tier1 - - 48 0 0.00 36 11 23.40 VASH1 0 genome.wustl.edu 37 14 77236248 77236248 + RNA SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 77236248 77236248 G A SNP VASH1 ENST00000556038 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors VASH1 HGNC ENSG00000071246 tier1 - - 78 0 0.00 36 11 23.40 VAV2 0 genome.wustl.edu 37 9 136662837 136662837 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 136662837 136662837 C T SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known missense c.931 p.V311I 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 tier1 - - 50 0 0.00 21 9 30.00 VAV2 0 genome.wustl.edu 37 9 136662837 136662837 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 9 136662837 136662837 C T SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known missense c.931 p.V311I 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 tier1 - - 51 0 0.00 21 9 30.00 VPS13D 0 genome.wustl.edu 37 1 12567015 12567015 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 12567015 12567015 A T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.12903 p.E4301D 0.996 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 tier1 - - 60 0 0.00 43 13 23.21 VPS13D 0 genome.wustl.edu 37 1 12567015 12567015 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 12567015 12567015 A T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.12903 p.E4301D 0.996 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 tier1 - - 94 0 0.00 43 13 23.21 VPS16 0 genome.wustl.edu 37 20 2845630 2845630 + Nonsense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 2845630 2845630 G T SNP VPS16 ENST00000380445 human ensembl 74_37 +1 known nonsense c.1933 p.E645* 0.999 pfam_Vps16_C,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 tier1 - - 81 0 0.00 48 4 7.69 VPS16 0 genome.wustl.edu 37 20 2845630 2845630 + Nonsense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 2845630 2845630 G T SNP VPS16 ENST00000380445 human ensembl 74_37 +1 known nonsense c.1933 p.E645* 0.999 pfam_Vps16_C,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 tier1 - - 96 0 0.00 48 4 7.69 VPS45 0 genome.wustl.edu 37 1 150040691 150040691 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 150040691 150040691 G T SNP VPS45 ENST00000369130 human ensembl 74_37 +1 known missense c.98 p.G33V 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS45 HGNC ENSG00000136631 51 0 0.00 38 2 5.00 VTA1 0 genome.wustl.edu 37 6 142525124 142525124 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 142525124 142525124 G T SNP VTA1 ENST00000367630 human ensembl 74_37 +1 known missense c.700 p.V234L 1.000 NULL NULL - no_errors VTA1 HGNC ENSG00000009844 tier1 - - 111 0 0.00 75 5 6.25 VTA1 0 genome.wustl.edu 37 6 142525124 142525124 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 142525124 142525124 G T SNP VTA1 ENST00000367630 human ensembl 74_37 +1 known missense c.700 p.V234L 1.000 NULL NULL - no_errors VTA1 HGNC ENSG00000009844 tier1 - - 81 0 0.00 75 5 6.25 VWA5B2 0 genome.wustl.edu 37 3 183957262 183957262 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 183957262 183957262 C A SNP VWA5B2 ENST00000426955 human ensembl 74_37 +1 known silent c.2283 p.G761 0.650 NULL NULL - no_errors VWA5B2 HGNC ENSG00000145198 tier1 - - 47 0 0.00 15 18 54.55 VWA5B2 0 genome.wustl.edu 37 3 183957262 183957262 + Silent SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 183957262 183957262 C A SNP VWA5B2 ENST00000426955 human ensembl 74_37 +1 known silent c.2283 p.G761 0.650 NULL NULL - no_errors VWA5B2 HGNC ENSG00000145198 tier1 - - 54 0 0.00 15 18 54.55 VWF 0 genome.wustl.edu 37 12 6058967 6058967 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 6058967 6058967 A G SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.8238 p.D2746 1.000 pirsf_VWF,smart_Cys_knot_C,pfscan_Cys_knot_C pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 - - 31 0 0.00 20 9 31.03 VWF 0 genome.wustl.edu 37 12 6058967 6058967 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 6058967 6058967 A G SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.8238 p.D2746 1.000 pirsf_VWF,smart_Cys_knot_C,pfscan_Cys_knot_C pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 - - 54 0 0.00 20 9 31.03 WDFY4 0 genome.wustl.edu 37 10 49935692 49935692 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 49935692 49935692 A T SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known missense c.959 p.K320I 0.999 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 90 0 0.00 57 19 25.00 WDFY4 0 genome.wustl.edu 37 10 50025347 50025347 + Nonsense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 50025347 50025347 C T SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known nonsense c.5398 p.Q1800* 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 74 0 0.00 52 3 5.45 WDR11 0 genome.wustl.edu 37 10 122660587 122660587 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 122660587 122660587 A T SNP WDR11 ENST00000263461 human ensembl 74_37 +1 known missense c.2664 p.Q888H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 tier1 - - 106 0 0.00 114 43 27.39 WDR11 0 genome.wustl.edu 37 10 122660587 122660587 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 122660587 122660587 A T SNP WDR11 ENST00000263461 human ensembl 74_37 +1 known missense c.2664 p.Q888H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 tier1 - - 191 0 0.00 114 43 27.39 WDR19 0 genome.wustl.edu 37 4 39233547 39233547 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 39233547 39233547 G T SNP WDR19 ENST00000399820 human ensembl 74_37 +1 known missense c.2113 p.G705C 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 167 0 0.00 73 4 5.19 WDR20 0 genome.wustl.edu 37 14 102675425 102675425 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 102675425 102675425 G T SNP WDR20 ENST00000454394 human ensembl 74_37 +1 known missense c.1011 p.W337C 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR20 HGNC ENSG00000140153 42 0 0.00 21 2 8.70 WDR27 0 genome.wustl.edu 37 6 170067332 170067332 + RNA SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 170067332 170067332 A T SNP WDR27 ENST00000546525 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors WDR27 HGNC ENSG00000184465 tier1 - - 39 0 0.00 34 4 10.53 WDR27 0 genome.wustl.edu 37 6 170067332 170067332 + RNA SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 170067332 170067332 A T SNP WDR27 ENST00000546525 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors WDR27 HGNC ENSG00000184465 tier1 - - 50 0 0.00 34 4 10.53 WDR48 0 genome.wustl.edu 37 3 39111206 39111206 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 39111206 39111206 G T SNP WDR48 ENST00000302313 human ensembl 74_37 +1 known missense c.643 p.A215S 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR48 HGNC ENSG00000114742 tier1 - - 92 0 0.00 48 4 7.69 WDR52 0 genome.wustl.edu 37 3 113015696 113015696 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 113015696 113015696 T G SNP WDR52 ENST00000393845 human ensembl 74_37 -1 known missense c.5114 p.K1705T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 tier1 - - 52 0 0.00 44 12 21.05 WDR52 0 genome.wustl.edu 37 3 113015696 113015696 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 113015696 113015696 T G SNP WDR52 ENST00000393845 human ensembl 74_37 -1 known missense c.5114 p.K1705T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 tier1 - - 62 0 0.00 44 12 21.05 WDR87 0 genome.wustl.edu 37 19 38378044 38378044 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 38378044 38378044 T C SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known silent c.6267 p.R2089 0.969 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 74 0 0.00 35 3 7.89 WNK1 0 genome.wustl.edu 37 12 977760 977760 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 977760 977760 T C SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known silent c.3123 p.T1041 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 tier1 - - 35 0 0.00 27 8 22.86 WNK1 0 genome.wustl.edu 37 12 977760 977760 + Silent SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 12 977760 977760 T C SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known silent c.3123 p.T1041 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 tier1 - - 52 0 0.00 27 8 22.86 WWC3 0 genome.wustl.edu 37 X 10096087 10096087 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 10096087 10096087 G C SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.2166 p.W722C 1.000 superfamily_C2_dom superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 tier1 - - 39 0 0.00 21 7 25.00 WWC3 0 genome.wustl.edu 37 X 10096087 10096087 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 10096087 10096087 G C SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.2166 p.W722C 1.000 superfamily_C2_dom superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 tier1 - - 47 0 0.00 21 7 25.00 XIRP2 0 genome.wustl.edu 37 2 167760191 167760191 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 167760191 167760191 G T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.199 p.G67W 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 82 0 0.00 64 6 8.57 XIRP2 0 genome.wustl.edu 37 2 167760191 167760191 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 167760191 167760191 G T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.199 p.G67W 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 84 0 0.00 64 6 8.57 XIRP2 0 genome.wustl.edu 37 2 167992503 167992503 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 167992503 167992503 G A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.493 p.D165N 0.996 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 60 0 0.00 38 2 5.00 XRRA1 0 genome.wustl.edu 37 11 74632295 74632295 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 74632295 74632295 A C SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known missense c.596 p.L199R 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 tier1 - - 47 0 0.00 20 12 37.50 XRRA1 0 genome.wustl.edu 37 11 74632295 74632295 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 74632295 74632295 A C SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known missense c.596 p.L199R 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 tier1 - - 53 0 0.00 20 12 37.50 YIPF6 0 genome.wustl.edu 37 X 67733414 67733414 + RNA SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a X 67733414 67733414 T G SNP YIPF6 ENST00000470730 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors YIPF6 HGNC ENSG00000181704 tier1 - - 23 0 0.00 3 9 75.00 ZBTB4 0 genome.wustl.edu 37 17 7369677 7369677 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 7369677 7369677 G A SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known silent c.444 p.L148 0.271 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 tier1 rs146654674 - 120 0 0.00 70 19 21.35 ZBTB4 0 genome.wustl.edu 37 17 7369677 7369677 + Silent SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 17 7369677 7369677 G A SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known silent c.444 p.L148 0.271 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 tier1 rs146654674 - 147 0 0.00 70 19 21.35 ZBTB7B 0 genome.wustl.edu 37 1 154987372 154987372 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 154987372 154987372 C T SNP ZBTB7B ENST00000417934 human ensembl 74_37 +1 known missense c.338 p.T113M 0.001 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7B HGNC ENSG00000160685 tier1 - - 51 0 0.00 43 8 15.69 ZBTB7B 0 genome.wustl.edu 37 1 154987372 154987372 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 1 154987372 154987372 C T SNP ZBTB7B ENST00000417934 human ensembl 74_37 +1 known missense c.338 p.T113M 0.001 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7B HGNC ENSG00000160685 tier1 - - 66 0 0.00 43 8 15.69 ZFHX2 0 genome.wustl.edu 37 14 23996152 23996152 + Nonsense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 23996152 23996152 T A SNP ZFHX2 ENST00000419474 human ensembl 74_37 -1 known nonsense c.3166 p.K1056* 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 60 0 0.00 34 4 10.53 ZFP42 0 genome.wustl.edu 37 4 188924157 188924157 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 188924157 188924157 G C SNP ZFP42 ENST00000326866 human ensembl 74_37 +1 known missense c.196 p.D66H 0.010 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ENSG00000179059 tier1 - - 54 0 0.00 42 8 16.00 ZFP42 0 genome.wustl.edu 37 4 188924157 188924157 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 4 188924157 188924157 G C SNP ZFP42 ENST00000326866 human ensembl 74_37 +1 known missense c.196 p.D66H 0.010 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ENSG00000179059 tier1 - - 79 0 0.00 42 8 16.00 ZFPM2 0 genome.wustl.edu 37 8 106814840 106814840 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 106814840 106814840 A G SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.2530 p.T844A 0.639 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 tier1 - - 45 0 0.00 18 34 65.38 ZFPM2 0 genome.wustl.edu 37 8 106814840 106814840 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 106814840 106814840 A G SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.2530 p.T844A 0.639 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 tier1 - - 74 0 0.00 18 34 65.38 ZNF107 0 genome.wustl.edu 37 7 64168006 64168006 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 64168006 64168006 T G SNP ZNF107 ENST00000344930 human ensembl 74_37 +1 known missense c.1324 p.C442G 0.022 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 49 0 0.00 47 3 6.00 ZNF133 0 genome.wustl.edu 37 20 18296340 18296340 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 18296340 18296340 A T SNP ZNF133 ENST00000396026 human ensembl 74_37 +1 known missense c.854 p.K285M 0.849 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 ZNF133 HGNC ENSG00000125846 tier1 - - 60 0 0.00 46 5 9.80 ZNF133 0 genome.wustl.edu 37 20 18296340 18296340 + Missense_Mutation SNP A A T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 20 18296340 18296340 A T SNP ZNF133 ENST00000396026 human ensembl 74_37 +1 known missense c.854 p.K285M 0.849 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 ZNF133 HGNC ENSG00000125846 tier1 - - 79 0 0.00 46 5 9.80 ZNF229 0 genome.wustl.edu 37 19 44933017 44933017 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 44933017 44933017 G T SNP ZNF229 ENST00000588931 human ensembl 74_37 -1 known missense c.1939 p.Q647K 0.411 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 ZNF229 HGNC ENSG00000167383 tier1 - - 73 0 0.00 56 4 6.67 ZNF234 0 genome.wustl.edu 37 19 44661688 44661688 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 44661688 44661688 A C SNP ZNF234 ENST00000426739 human ensembl 74_37 +1 known missense c.1519 p.T507P 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF234 HGNC ENSG00000263002 tier1 - - 101 0 0.00 54 19 25.68 ZNF234 0 genome.wustl.edu 37 19 44661688 44661688 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 44661688 44661688 A C SNP ZNF234 ENST00000426739 human ensembl 74_37 +1 known missense c.1519 p.T507P 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF234 HGNC ENSG00000263002 tier1 - - 107 0 0.00 54 19 25.68 ZNF257 0 genome.wustl.edu 37 19 22271475 22271475 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 22271475 22271475 G T SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known missense c.923 p.R308I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF257 HGNC ENSG00000197134 56 0 0.00 35 2 5.41 ZNF292 0 genome.wustl.edu 37 6 87968021 87968021 + Silent SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 6 87968021 87968021 T G SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known silent c.4674 p.T1558 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 44 0 0.00 28 3 9.68 ZNF408 0 genome.wustl.edu 37 11 46724278 46724278 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 46724278 46724278 G C SNP ZNF408 ENST00000311764 human ensembl 74_37 +1 known missense c.355 p.D119H 0.630 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ENSG00000175213 tier1 - - 146 0 0.00 77 12 13.48 ZNF408 0 genome.wustl.edu 37 11 46724278 46724278 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 11 46724278 46724278 G C SNP ZNF408 ENST00000311764 human ensembl 74_37 +1 known missense c.355 p.D119H 0.630 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ENSG00000175213 tier1 - - 97 0 0.00 77 12 13.48 ZNF410 0 genome.wustl.edu 37 14 74371668 74371668 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 74371668 74371668 G A SNP ZNF410 ENST00000398139 human ensembl 74_37 +1 known missense c.766 p.A256T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF410 HGNC ENSG00000119725 tier1 - - 69 0 0.00 47 20 29.41 ZNF410 0 genome.wustl.edu 37 14 74371668 74371668 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 14 74371668 74371668 G A SNP ZNF410 ENST00000398139 human ensembl 74_37 +1 known missense c.766 p.A256T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF410 HGNC ENSG00000119725 tier1 - - 80 0 0.00 47 20 29.41 ZNF467 0 genome.wustl.edu 37 7 149462894 149462894 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 149462894 149462894 G T SNP ZNF467 ENST00000302017 human ensembl 74_37 -1 known missense c.697 p.R233S 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 tier1 - - 51 0 0.00 25 4 13.79 ZNF503-AS2 0 genome.wustl.edu 37 10 77163096 77163096 + RNA SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 77163096 77163096 G C SNP ZNF503-AS2 ENST00000425916 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF503-AS2 HGNC ENSG00000237149 tier1 - - 59 0 0.00 24 9 27.27 ZNF503-AS2 0 genome.wustl.edu 37 10 77163096 77163096 + RNA SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 10 77163096 77163096 G C SNP ZNF503-AS2 ENST00000425916 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF503-AS2 HGNC ENSG00000237149 tier1 - - 65 0 0.00 24 9 27.27 ZNF507 0 genome.wustl.edu 37 19 32845759 32845759 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 32845759 32845759 G A SNP ZNF507 ENST00000311921 human ensembl 74_37 +1 known missense c.2023 p.E675K 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 54 0 0.00 31 2 6.06 ZNF542 0 genome.wustl.edu 37 19 56888972 56888972 + RNA SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 56888972 56888972 C A SNP ZNF542 ENST00000467807 human ensembl 74_37 +1 known rna NULL NULL 0.980 - - - no_errors ZNF542 HGNC ENSG00000240225 tier1 - - 64 0 0.00 28 35 55.56 ZNF542 0 genome.wustl.edu 37 19 56888972 56888972 + RNA SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 56888972 56888972 C A SNP ZNF542 ENST00000467807 human ensembl 74_37 +1 known rna NULL NULL 0.980 - - - no_errors ZNF542 HGNC ENSG00000240225 tier1 - - 91 0 0.00 28 35 55.56 ZNF565 0 genome.wustl.edu 37 19 36674142 36674142 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 36674142 36674142 C A SNP ZNF565 ENST00000304116 human ensembl 74_37 -1 known missense c.726 p.Q242H 0.980 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 ZNF565 HGNC ENSG00000196357 tier1 - - 33 0 0.00 26 11 29.73 ZNF570 0 genome.wustl.edu 37 19 37960418 37960418 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 37960418 37960418 A C SNP ZNF570 ENST00000586475 human ensembl 74_37 +1 putative missense c.76 p.S26R 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF570 HGNC ENSG00000171827 tier1 - - 33 0 0.00 10 7 41.18 ZNF570 0 genome.wustl.edu 37 19 37960418 37960418 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 37960418 37960418 A C SNP ZNF570 ENST00000586475 human ensembl 74_37 +1 putative missense c.76 p.S26R 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF570 HGNC ENSG00000171827 tier1 - - 34 0 0.00 10 7 41.18 ZNF572 0 genome.wustl.edu 37 8 125989136 125989136 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 125989136 125989136 C A SNP ZNF572 ENST00000319286 human ensembl 74_37 +1 known missense c.626 p.T209N 0.990 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF572 HGNC ENSG00000180938 tier1 - - 35 0 0.00 39 12 23.53 ZNF572 0 genome.wustl.edu 37 8 125989136 125989136 + Missense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 8 125989136 125989136 C A SNP ZNF572 ENST00000319286 human ensembl 74_37 +1 known missense c.626 p.T209N 0.990 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF572 HGNC ENSG00000180938 tier1 - - 59 0 0.00 39 12 23.53 ZNF600 0 genome.wustl.edu 37 19 53269900 53269900 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 53269900 53269900 T A SNP ZNF600 ENST00000338230 human ensembl 74_37 -1 known missense c.1109 p.K370M 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ENSG00000189190 tier1 - - 127 0 0.00 97 8 7.62 ZNF600 0 genome.wustl.edu 37 19 53269900 53269900 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 53269900 53269900 T A SNP ZNF600 ENST00000338230 human ensembl 74_37 -1 known missense c.1109 p.K370M 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ENSG00000189190 tier1 - - 86 0 0.00 97 8 7.62 ZNF615 0 genome.wustl.edu 37 19 52505106 52505106 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 52505106 52505106 A G SNP ZNF615 ENST00000594083 human ensembl 74_37 -1 known silent c.198 p.T66 0.000 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 ZNF615 HGNC ENSG00000197619 tier1 - - 100 0 0.00 56 5 8.20 ZNF615 0 genome.wustl.edu 37 19 52505106 52505106 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 52505106 52505106 A G SNP ZNF615 ENST00000594083 human ensembl 74_37 -1 known silent c.198 p.T66 0.000 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 ZNF615 HGNC ENSG00000197619 tier1 - - 63 0 0.00 56 5 8.20 ZNF616 0 genome.wustl.edu 37 19 52620093 52620093 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 52620093 52620093 A G SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known silent c.324 p.D108 0.004 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF616 HGNC ENSG00000204611 tier1 - - 60 0 0.00 50 11 18.03 ZNF616 0 genome.wustl.edu 37 19 52620093 52620093 + Silent SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 52620093 52620093 A G SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known silent c.324 p.D108 0.004 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF616 HGNC ENSG00000204611 tier1 - - 87 0 0.00 50 11 18.03 ZNF646 0 genome.wustl.edu 37 16 31093027 31093027 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 31093027 31093027 G T SNP ZNF646 ENST00000394979 human ensembl 74_37 +1 known missense c.5382 p.R1794S 0.396 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 tier1 - - 104 0 0.00 63 4 5.97 ZNF646 0 genome.wustl.edu 37 16 31093027 31093027 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 31093027 31093027 G T SNP ZNF646 ENST00000394979 human ensembl 74_37 +1 known missense c.5382 p.R1794S 0.396 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 tier1 - - 107 0 0.00 63 4 5.97 ZNF662 0 genome.wustl.edu 37 3 42956638 42956638 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 42956638 42956638 A G SNP ZNF662 ENST00000328199 human ensembl 74_37 +1 known missense c.1151 p.K384R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF662 HGNC ENSG00000182983 tier1 - - 29 0 0.00 28 19 40.43 ZNF662 0 genome.wustl.edu 37 3 42956638 42956638 + Missense_Mutation SNP A A G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 3 42956638 42956638 A G SNP ZNF662 ENST00000328199 human ensembl 74_37 +1 known missense c.1151 p.K384R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF662 HGNC ENSG00000182983 tier1 - - 50 0 0.00 28 19 40.43 ZNF681 0 genome.wustl.edu 37 19 23928012 23928012 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 23928012 23928012 T G SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known missense c.340 p.S114R 0.019 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 ZNF681 HGNC ENSG00000196172 tier1 - - 107 0 0.00 45 42 48.28 ZNF681 0 genome.wustl.edu 37 19 23928012 23928012 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 23928012 23928012 T G SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known missense c.340 p.S114R 0.019 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 ZNF681 HGNC ENSG00000196172 tier1 - - 59 0 0.00 45 42 48.28 ZNF729 0 genome.wustl.edu 37 19 22498243 22498243 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 22498243 22498243 A C SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.2024 p.K675T 0.996 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 ZNF729 HGNC ENSG00000196350 tier1 - - 59 0 0.00 66 21 23.86 ZNF733P 0 genome.wustl.edu 37 7 62752733 62752733 + RNA SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 62752733 62752733 C T SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.055 - - - no_errors ZNF733P HGNC ENSG00000185037 tier1 - - 92 0 0.00 107 8 6.96 ZNF747 0 genome.wustl.edu 37 16 30545589 30545589 + Nonsense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 30545589 30545589 T A SNP ZNF747 ENST00000252799 human ensembl 74_37 -1 known nonsense c.412 p.R138* 0.009 pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF747 HGNC ENSG00000169955 tier1 - - 36 0 0.00 35 5 12.50 ZNF747 0 genome.wustl.edu 37 16 30545589 30545589 + Nonsense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 30545589 30545589 T A SNP ZNF747 ENST00000252799 human ensembl 74_37 -1 known nonsense c.412 p.R138* 0.009 pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF747 HGNC ENSG00000169955 tier1 - - 54 0 0.00 35 5 12.50 ZNF747 0 genome.wustl.edu 37 16 30545590 30545590 + Nonsense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 30545590 30545590 C A SNP ZNF747 ENST00000535210 human ensembl 74_37 -1 known nonsense c.271 p.E91* 0.009 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF747 HGNC ENSG00000169955 tier1 - - 37 0 0.00 35 5 12.50 ZNF747 0 genome.wustl.edu 37 16 30545590 30545590 + Nonsense_Mutation SNP C C A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 16 30545590 30545590 C A SNP ZNF747 ENST00000535210 human ensembl 74_37 -1 known nonsense c.271 p.E91* 0.009 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF747 HGNC ENSG00000169955 tier1 - - 53 0 0.00 35 5 12.50 ZNF772 0 genome.wustl.edu 37 19 57984884 57984884 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 57984884 57984884 C T SNP ZNF772 ENST00000343280 human ensembl 74_37 -1 known missense c.1228 p.A410T 0.498 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 ZNF772 HGNC ENSG00000197128 tier1 - - 72 0 0.00 65 4 5.80 ZNF804B 0 genome.wustl.edu 37 7 88964359 88964359 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 88964359 88964359 T C SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.2063 p.V688A 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 38 0 0.00 31 19 38.00 ZNF804B 0 genome.wustl.edu 37 7 88964359 88964359 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 7 88964359 88964359 T C SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.2063 p.V688A 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 48 0 0.00 31 19 38.00 ZNF813 0 genome.wustl.edu 37 19 53994412 53994412 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 53994412 53994412 G C SNP ZNF813 ENST00000396403 human ensembl 74_37 +1 known missense c.926 p.S309T 0.000 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 ZNF813 HGNC ENSG00000198346 tier1 - - 112 0 0.00 68 11 13.92 ZNF813 0 genome.wustl.edu 37 19 53994412 53994412 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 53994412 53994412 G C SNP ZNF813 ENST00000396403 human ensembl 74_37 +1 known missense c.926 p.S309T 0.000 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 ZNF813 HGNC ENSG00000198346 tier1 - - 84 0 0.00 68 11 13.92 ZNF826P 0 genome.wustl.edu 37 19 20607676 20607676 + RNA SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 20607676 20607676 C T SNP ZNF826P ENST00000502675 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ZNF826P HGNC ENSG00000231205 tier1 - - 102 0 0.00 74 13 14.94 ZNF826P 0 genome.wustl.edu 37 19 20607676 20607676 + RNA SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 20607676 20607676 C T SNP ZNF826P ENST00000502675 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ZNF826P HGNC ENSG00000231205 tier1 - - 125 0 0.00 74 13 14.94 ZNF85 0 genome.wustl.edu 37 19 21132738 21132738 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 21132738 21132738 A C SNP ZNF85 ENST00000328178 human ensembl 74_37 +1 known missense c.1418 p.K473T 0.643 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 ZNF85 HGNC ENSG00000105750 tier1 - - 51 0 0.00 46 14 23.33 ZNF85 0 genome.wustl.edu 37 19 21132738 21132738 + Missense_Mutation SNP A A C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 21132738 21132738 A C SNP ZNF85 ENST00000328178 human ensembl 74_37 +1 known missense c.1418 p.K473T 0.643 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 ZNF85 HGNC ENSG00000105750 tier1 - - 72 0 0.00 46 14 23.33 ZNF880 0 genome.wustl.edu 37 19 52887662 52887662 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 52887662 52887662 T C SNP ZNF880 ENST00000422689 human ensembl 74_37 +1 known missense c.829 p.F277L 0.645 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 ZNF880 HGNC ENSG00000221923 tier1 - - 43 0 0.00 45 6 11.76 ZNF880 0 genome.wustl.edu 37 19 52887662 52887662 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 52887662 52887662 T C SNP ZNF880 ENST00000422689 human ensembl 74_37 +1 known missense c.829 p.F277L 0.645 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 ZNF880 HGNC ENSG00000221923 tier1 - - 71 0 0.00 45 6 11.76 ZNF99 0 genome.wustl.edu 37 19 22951136 22951136 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 22951136 22951136 T G SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.260 p.K87T 0.104 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 ZNF99 HGNC ENSG00000213973 tier1 - - 118 0 0.00 77 47 37.90 ZNF99 0 genome.wustl.edu 37 19 22951136 22951136 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 19 22951136 22951136 T G SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.260 p.K87T 0.104 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 ZNF99 HGNC ENSG00000213973 tier1 - - 190 0 0.00 77 47 37.90 ZSWIM2 0 genome.wustl.edu 37 2 187694604 187694604 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 2 187694604 187694604 T G SNP ZSWIM2 ENST00000295131 human ensembl 74_37 -1 known missense c.945 p.Q315H 0.003 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC ENSG00000163012 83 0 0.00 68 5 6.85 ZSWIM6 0 genome.wustl.edu 37 5 60839555 60839555 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 60839555 60839555 C T SNP ZSWIM6 ENST00000252744 human ensembl 74_37 +1 novel missense c.3059 p.A1020V 1.000 NULL pfscan_Znf_SWIM,prints_Antifreeze_1 - no_errors ZSWIM6 HGNC ENSG00000130449 tier1 - - 34 0 0.00 22 11 33.33 ZSWIM6 0 genome.wustl.edu 37 5 60839555 60839555 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 60839555 60839555 C T SNP ZSWIM6 ENST00000252744 human ensembl 74_37 +1 novel missense c.3059 p.A1020V 1.000 NULL pfscan_Znf_SWIM,prints_Antifreeze_1 - no_errors ZSWIM6 HGNC ENSG00000130449 tier1 - - 44 0 0.00 22 11 33.33 ZSWIM6 0 genome.wustl.edu 37 5 60768550 60768550 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 409bc915-0434-4e4b-b96b-61465c83580a f93260cb-2f87-479b-a13f-1b58e222ed2a 5 60768550 60768550 C T SNP ZSWIM6 ENST00000252744 human ensembl 74_37 +1 novel missense c.719 p.S240L 1.000 NULL pfscan_Znf_SWIM,prints_Antifreeze_1 - no_errors ZSWIM6 HGNC ENSG00000130449 33 0 0.00 35 3 7.89