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 ABCA10 0 genome.wustl.edu 37 17 67181658 67181658 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 17 67181658 67181658 C T SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known silent c.2457 p.P819 0.001 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 tier1 - - 77 0 0.00 138 20 12.66 ABCC13 0 genome.wustl.edu 37 21 15710177 15710177 + RNA SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 21 15710177 15710177 T C SNP ABCC13 ENST00000482980 human ensembl 74_37 +1 known rna NULL NULL 0.266 - - - no_errors ABCC13 HGNC ENSG00000243064 tier1 - - 36 0 0.00 33 16 32.65 ACAP1 0 genome.wustl.edu 37 17 7245588 7245588 + RNA SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 17 7245588 7245588 G T SNP ACAP1 ENST00000573893 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ACAP1 HGNC ENSG00000072818 tier1 - - 92 0 0.00 61 4 6.15 ACSM5 0 genome.wustl.edu 37 16 20429577 20429577 + Missense_Mutation SNP C C G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 16 20429577 20429577 C G SNP ACSM5 ENST00000331849 human ensembl 74_37 +1 known missense c.401 p.A134G 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ENSG00000183549 tier1 - - 52 0 0.00 77 11 12.50 ADAMTSL1 0 genome.wustl.edu 37 9 18770777 18770777 + Nonsense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 9 18770777 18770777 G T SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel nonsense c.2395 p.E799* 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 tier1 - - 54 0 0.00 54 4 6.90 ADAP2 0 genome.wustl.edu 37 17 29271984 29271984 + Silent SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 17 29271984 29271984 G A SNP ADAP2 ENST00000330889 human ensembl 74_37 +1 known silent c.570 p.E190 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,prints_ArfGAP,pfscan_Pleckstrin_homology,pfscan_ArfGAP - no_errors ADAP2 HGNC ENSG00000184060 tier1 - - 25 0 0.00 31 39 55.71 ADAR 0 genome.wustl.edu 37 1 154558301 154558301 + Silent SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 154558301 154558301 G A SNP ADAR ENST00000292205 human ensembl 74_37 -1 known silent c.3372 p.C1124 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 tier1 - - 69 0 0.00 57 51 47.22 ADARB2 0 genome.wustl.edu 37 10 1405543 1405543 + Nonsense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 1405543 1405543 G A SNP ADARB2 ENST00000381312 human ensembl 74_37 -1 known nonsense c.757 p.R253* 0.960 NULL pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 8 0 0.00 2 3 60.00 ADHFE1 0 genome.wustl.edu 37 8 67356900 67356900 + Silent SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 8 67356900 67356900 G T SNP ADHFE1 ENST00000396623 human ensembl 74_37 +1 known silent c.270 p.V90 0.003 pfam_ADH_Fe pfam_ADH_Fe - no_errors ADHFE1 HGNC ENSG00000147576 tier1 - - 72 0 0.00 74 5 6.33 AHCTF1 0 genome.wustl.edu 37 1 247013009 247013009 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 247013009 247013009 C T SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.6326 p.R2109Q 0.996 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 tier1 - - 101 0 0.00 136 51 27.13 AIG1 0 genome.wustl.edu 37 6 143654504 143654504 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 143654504 143654504 G T SNP AIG1 ENST00000275235 human ensembl 74_37 +1 known missense c.601 p.G201W 0.987 pfam_Far-17a_AIG1 pfam_Far-17a_AIG1 - no_errors AIG1 HGNC ENSG00000146416 tier1 - - 64 0 0.00 50 4 7.41 ALKBH1 0 genome.wustl.edu 37 14 78140430 78140430 + Nonsense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 14 78140430 78140430 C A SNP ALKBH1 ENST00000216489 human ensembl 74_37 -1 known nonsense c.895 p.E299* 0.293 NULL tigrfam_Alkb - no_errors ALKBH1 HGNC ENSG00000100601 56 0 0.00 74 4 5.13 ALMS1 0 genome.wustl.edu 37 2 73777445 73777445 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 73777445 73777445 G A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.9956 p.R3319K 0.975 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 tier1 - - 56 0 0.00 90 10 10.00 ALPK3 0 genome.wustl.edu 37 15 85383828 85383828 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 15 85383828 85383828 C T SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.1924 p.R642W 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 - - 136 0 0.00 85 25 22.73 AMY2B 0 genome.wustl.edu 37 1 104114006 104114007 + RNA INS - - A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 104114006 104114007 - A INS AMY2B ENST00000491397 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors AMY2B HGNC ENSG00000240038 tier1 24 0 0.00 30 10 25.00 ANAPC5 0 genome.wustl.edu 37 12 121775130 121775130 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 121775130 121775130 G T SNP ANAPC5 ENST00000261819 human ensembl 74_37 -1 known missense c.723 p.N241K 1.000 NULL smart_TPR_repeat - no_errors ANAPC5 HGNC ENSG00000089053 tier1 - - 50 0 0.00 72 4 5.26 ANGPT2 0 genome.wustl.edu 37 8 6372251 6372251 + Missense_Mutation SNP G G C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 8 6372251 6372251 G C SNP ANGPT2 ENST00000325203 human ensembl 74_37 -1 known missense c.979 p.R327G 0.998 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT2 HGNC ENSG00000091879 tier1 - - 38 0 0.00 33 10 23.26 ANKS6 0 genome.wustl.edu 37 9 101552791 101552791 + Silent SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 9 101552791 101552791 G T SNP ANKS6 ENST00000375018 human ensembl 74_37 -1 known silent c.457 p.R153 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 53 0 0.00 55 4 6.78 APBB1 0 genome.wustl.edu 37 11 6424578 6424578 + Frame_Shift_Del DEL C C - TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 6424578 6424578 C - DEL APBB1 ENST00000389906 human ensembl 74_37 -1 known frame_shift_del c.1011 p.T338fs 0.993 NULL pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB1 HGNC ENSG00000166313 tier1 49 0 0.00 27 11 28.95 APOL1 0 genome.wustl.edu 37 22 36661572 36661572 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 22 36661572 36661572 C T SNP APOL1 ENST00000319136 human ensembl 74_37 +1 known silent c.738 p.Y246 0.000 pfam_ApoL pfam_ApoL - no_errors APOL1 HGNC ENSG00000100342 tier1 - - 62 0 0.00 65 4 5.80 AR 0 genome.wustl.edu 37 X 66766359 66766359 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 X 66766359 66766359 C T SNP AR ENST00000374690 human ensembl 74_37 +1 known silent c.1371 p.G457 0.062 NULL pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 tier1 - - 26 0 0.00 0 6 100.00 ARF5 0 genome.wustl.edu 37 7 127231142 127231142 + Silent SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 7 127231142 127231142 G T SNP ARF5 ENST00000000233 human ensembl 74_37 +1 known silent c.456 p.T152 0.988 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARF5 HGNC ENSG00000004059 tier1 - - 59 0 0.00 29 7 19.44 ARHGEF38 0 genome.wustl.edu 37 4 106588433 106588433 + Nonsense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 106588433 106588433 G T SNP ARHGEF38 ENST00000420470 human ensembl 74_37 +1 putative nonsense c.1837 p.E613* 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_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 43 0 0.00 69 4 5.48 ARMCX4 0 genome.wustl.edu 37 X 100744937 100744937 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 X 100744937 100744937 G A SNP ARMCX4 ENST00000423738 human ensembl 74_37 +1 putative missense c.1361 p.G454D 0.003 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 tier1 - - 50 0 0.00 45 4 8.16 ASAH2 0 genome.wustl.edu 37 10 52005058 52005058 + Missense_Mutation SNP A A G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 52005058 52005058 A G SNP ASAH2 ENST00000395526 human ensembl 74_37 -1 known missense c.284 p.L95P 0.000 NULL pfam_Ceramidase_alk - no_errors ASAH2 HGNC ENSG00000188611 tier1 - - 95 0 0.00 128 7 5.19 ASTN1 0 genome.wustl.edu 37 1 177133539 177133539 + Missense_Mutation SNP A A C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 177133539 177133539 A C SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.274 p.F92V 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 83 0 0.00 63 26 29.21 ATM 0 genome.wustl.edu 37 11 108121679 108121679 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 108121679 108121679 G T SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.1487 p.S496I 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 - - 45 0 0.00 76 4 5.00 ATP10B 0 genome.wustl.edu 37 5 160047770 160047770 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 5 160047770 160047770 G T SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.2000 p.S667Y 0.373 superfamily_HAD-like_dom pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 35 0 0.00 46 3 6.12 ATP8A2 0 genome.wustl.edu 37 13 26104741 26104741 + Silent SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 13 26104741 26104741 G T SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known silent c.363 p.L121 1.000 tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase 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 tier1 - - 32 0 0.00 41 4 8.89 ATRN 0 genome.wustl.edu 37 20 3578567 3578567 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 20 3578567 3578567 G T SNP ATRN ENST00000262919 human ensembl 74_37 +1 known missense c.3484 p.D1162Y 1.000 NULL pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 26 0 0.00 43 4 8.51 AXDND1 0 genome.wustl.edu 37 1 179437745 179437745 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 179437745 179437745 G T SNP AXDND1 ENST00000367618 human ensembl 74_37 +1 known missense c.1966 p.V656F 0.673 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 tier1 - - 53 0 0.00 73 4 5.19 AZI2 0 genome.wustl.edu 37 3 28364042 28364042 + RNA SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 28364042 28364042 G T SNP AZI2 ENST00000295748 human ensembl 74_37 -1 known rna NULL NULL 0.957 - - - no_errors AZI2 HGNC ENSG00000163512 tier1 - - 26 0 0.00 26 16 38.10 BAD 0 genome.wustl.edu 37 11 64044391 64044391 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 64044391 64044391 C A SNP BAD ENST00000394531 human ensembl 74_37 -1 putative missense c.312 p.E104D 0.031 NULL pfam_Bcl-2_BAD - no_errors BAD HGNC ENSG00000002330 tier1 - - 88 0 0.00 67 33 33.00 BAG1 0 genome.wustl.edu 37 9 33256871 33256871 + Silent SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 9 33256871 33256871 G T SNP BAG1 ENST00000472232 human ensembl 74_37 -1 known silent c.813 p.L271 0.999 pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain pfam_BAG_domain,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,smart_BAG_domain,pfscan_BAG_domain,pfscan_Ubiquitin_supergroup - no_errors BAG1 HGNC ENSG00000107262 tier1 - - 70 0 0.00 76 4 5.00 BAG2 0 genome.wustl.edu 37 6 57037568 57037568 + Missense_Mutation SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 57037568 57037568 T C SNP BAG2 ENST00000370693 human ensembl 74_37 +1 known missense c.73 p.S25P 1.000 NULL pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG2 HGNC ENSG00000112208 tier1 - - 111 0 0.00 39 50 56.18 BANP 0 genome.wustl.edu 37 16 88037956 88037956 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 16 88037956 88037956 G T SNP BANP ENST00000286122 human ensembl 74_37 +1 known missense c.394 p.A132S 1.000 NULL pfam_BEN_domain - no_errors BANP HGNC ENSG00000172530 tier1 - - 76 0 0.00 87 5 5.43 BBS7 0 genome.wustl.edu 37 4 122756435 122756435 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 122756435 122756435 G T SNP BBS7 ENST00000264499 human ensembl 74_37 -1 known missense c.1375 p.R459S 1.000 pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC ENSG00000138686 53 0 0.00 54 3 5.26 BCAS4 0 genome.wustl.edu 37 20 49446909 49446909 + Missense_Mutation SNP C C G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 20 49446909 49446909 C G SNP BCAS4 ENST00000358791 human ensembl 74_37 +1 known missense c.346 p.R116G 0.932 NULL NULL - no_errors BCAS4 HGNC ENSG00000124243 tier1 - - 89 0 0.00 137 14 9.21 BEND6 0 genome.wustl.edu 37 6 56880028 56880028 + Silent SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 56880028 56880028 C A SNP BEND6 ENST00000370746 human ensembl 74_37 +1 known silent c.396 p.L132 1.000 NULL pfam_BEN_domain - no_errors BEND6 HGNC ENSG00000151917 tier1 - - 49 0 0.00 102 26 20.16 BMP15 0 genome.wustl.edu 37 X 50659505 50659505 + Silent SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 X 50659505 50659505 G A SNP BMP15 ENST00000252677 human ensembl 74_37 +1 known silent c.1077 p.P359 0.959 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP15 HGNC ENSG00000130385 tier1 rs147148606 - 24 0 0.00 27 7 20.59 BMPR1A 0 genome.wustl.edu 37 10 88649838 88649838 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 88649838 88649838 G T SNP BMPR1A ENST00000372037 human ensembl 74_37 +1 known missense c.87 p.M29I 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR1A HGNC ENSG00000107779 tier1 - - 51 0 0.00 77 5 6.10 BMS1 0 genome.wustl.edu 37 10 43292424 43292424 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 43292424 43292424 G T SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known missense c.1732 p.D578Y 1.000 superfamily_P-loop_NTPase pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 55 0 0.00 59 4 6.35 BOC 0 genome.wustl.edu 37 3 112997020 112997020 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 112997020 112997020 G T SNP BOC ENST00000273395 human ensembl 74_37 +1 known missense c.1621 p.D541Y 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 61 0 0.00 74 4 5.13 BRD7 0 genome.wustl.edu 37 16 50402730 50402730 + RNA SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 16 50402730 50402730 C A SNP BRD7 ENST00000401491 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors BRD7 HGNC ENSG00000166164 tier1 - - 27 0 0.00 25 4 13.79 BTK 0 genome.wustl.edu 37 X 100611043 100611043 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 X 100611043 100611043 G T SNP BTK ENST00000308731 human ensembl 74_37 -1 known missense c.1563 p.D521E 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors BTK HGNC ENSG00000010671 44 0 0.00 62 4 5.97 BTN2A1 0 genome.wustl.edu 37 6 26466201 26466201 + Nonsense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 26466201 26466201 C T SNP BTN2A1 ENST00000312541 human ensembl 74_37 +1 known nonsense c.955 p.R319* 0.869 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A1 HGNC ENSG00000112763 tier1 - - 81 0 0.00 70 46 39.66 C10orf71 0 genome.wustl.edu 37 10 50533993 50533993 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 50533993 50533993 C T SNP C10orf71 ENST00000374144 human ensembl 74_37 +1 known missense c.3403 p.R1135W 0.000 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 tier1 - - 91 0 0.00 28 16 35.56 C12orf40 0 genome.wustl.edu 37 12 40076539 40076539 + Silent SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 40076539 40076539 G T SNP C12orf40 ENST00000324616 human ensembl 74_37 +1 known silent c.813 p.G271 0.002 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 tier1 - - 51 0 0.00 43 5 10.42 C16orf74 0 genome.wustl.edu 37 16 85743833 85743833 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 16 85743833 85743833 C T SNP C16orf74 ENST00000284245 human ensembl 74_37 -1 known missense c.109 p.D37N 0.994 NULL NULL - no_errors C16orf74 HGNC ENSG00000154102 tier1 - - 27 0 0.00 14 27 65.85 C16orf78 0 genome.wustl.edu 37 16 49407984 49407984 + Missense_Mutation SNP A A C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 16 49407984 49407984 A C SNP C16orf78 ENST00000299191 human ensembl 74_37 +1 known missense c.134 p.K45T 0.885 NULL NULL - no_errors C16orf78 HGNC ENSG00000166152 tier1 - - 77 0 0.00 92 24 20.69 C1QTNF7 0 genome.wustl.edu 37 4 15437439 15437439 + Missense_Mutation SNP A A C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 15437439 15437439 A C SNP C1QTNF7 ENST00000429690 human ensembl 74_37 +1 known missense c.72 p.K24N 1.000 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF7 HGNC ENSG00000163145 tier1 - - 38 0 0.00 45 8 15.09 C1orf168 0 genome.wustl.edu 37 1 57258301 57258301 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 57258301 57258301 C T SNP C1orf168 ENST00000343433 human ensembl 74_37 -1 known missense c.185 p.R62H 0.000 NULL superfamily_SH3_domain - no_errors C1orf168 HGNC ENSG00000187889 tier1 - - 45 0 0.00 92 9 8.91 C4orf50 0 genome.wustl.edu 37 4 5990868 5990869 + Frame_Shift_Ins INS - - CT TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 5990868 5990869 0 CT INS C4orf50 ENST00000531445 human ensembl 74_37 -1 known frame_shift_ins c.631_630 p.V210fs 0.000:0.000 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 52 0 0.00 77 6 7.23 C5orf47 0 genome.wustl.edu 37 5 173428210 173428210 + Missense_Mutation SNP A A G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 5 173428210 173428210 A G SNP C5orf47 ENST00000340147 human ensembl 74_37 +1 known missense c.523 p.T175A 0.002 NULL NULL - no_errors C5orf47 HGNC ENSG00000185056 tier1 - - 47 0 0.00 92 14 13.21 C8A 0 genome.wustl.edu 37 1 57347161 57347161 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 57347161 57347161 G T SNP C8A ENST00000361249 human ensembl 74_37 +1 known missense c.508 p.A170S 0.964 NULL pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8A HGNC ENSG00000157131 tier1 - - 44 0 0.00 54 4 6.78 C8orf34 0 genome.wustl.edu 37 8 69434158 69434158 + Missense_Mutation SNP A A T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 8 69434158 69434158 A T SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known missense c.890 p.K297I 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 tier1 - - 81 0 0.00 61 25 29.07 CACNA2D4 0 genome.wustl.edu 37 12 1965219 1965219 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 1965219 1965219 G T SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known missense c.2111 p.A704D 0.998 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 96 0 0.00 77 5 6.10 CACNG8 0 genome.wustl.edu 37 19 54483237 54483237 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 54483237 54483237 G A SNP CACNG8 ENST00000270458 human ensembl 74_37 +1 known missense c.484 p.A162T 0.995 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g8su,prints_Claudin - no_errors CACNG8 HGNC ENSG00000142408 tier1 - - 119 0 0.00 89 35 28.23 CAPNS1 0 genome.wustl.edu 37 19 36633589 36633589 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 36633589 36633589 C A SNP CAPNS1 ENST00000588780 human ensembl 74_37 +1 known missense c.279 p.N93K 1.000 NULL pfscan_EF_hand_dom - no_errors CAPNS1 HGNC ENSG00000126247 tier1 - - 83 0 0.00 77 8 9.41 CASQ2 0 genome.wustl.edu 37 1 116268160 116268160 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 116268160 116268160 C A SNP CASQ2 ENST00000261448 human ensembl 74_37 -1 known missense c.752 p.R251L 1.000 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ2 HGNC ENSG00000118729 15 0 0.00 23 2 8.00 CBLN4 0 genome.wustl.edu 37 20 54579078 54579078 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 20 54579078 54579078 C T SNP CBLN4 ENST00000064571 human ensembl 74_37 -1 known silent c.150 p.T50 0.992 NULL pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN4 HGNC ENSG00000054803 tier1 - - 30 0 0.00 29 6 17.14 CCDC168 0 genome.wustl.edu 37 13 103385504 103385504 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 13 103385504 103385504 G A SNP CCDC168 ENST00000322527 human ensembl 74_37 -1 known missense c.3656 p.T1219M 0.000 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 tier1 - - 8 0 0.00 6 8 57.14 CCDC37 0 genome.wustl.edu 37 3 126139071 126139071 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 126139071 126139071 G A SNP CCDC37 ENST00000393425 human ensembl 74_37 +1 known missense c.1084 p.G362R 0.001 NULL superfamily_SuperAg_toxin_C - no_errors CCDC37 HGNC ENSG00000163885 tier1 - - 62 0 0.00 68 23 25.27 CCNF 0 genome.wustl.edu 37 16 2505474 2505474 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 16 2505474 2505474 G T SNP CCNF ENST00000397066 human ensembl 74_37 +1 known missense c.1794 p.E598D 0.996 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom - no_errors CCNF HGNC ENSG00000162063 tier1 - - 133 0 0.00 65 5 7.14 CCR4 0 genome.wustl.edu 37 3 32995849 32995849 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 32995849 32995849 G A SNP CCR4 ENST00000330953 human ensembl 74_37 +1 known missense c.935 p.R312H 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt - no_errors CCR4 HGNC ENSG00000183813 tier1 - - 45 0 0.00 30 16 34.78 CCRL2 0 genome.wustl.edu 37 3 46449067 46449067 + RNA SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 46449067 46449067 G T SNP CCRL2 ENST00000495870 human ensembl 74_37 +1 putative rna NULL NULL 0.999 - - - no_errors CCRL2 HGNC ENSG00000121797 tier1 - - 49 0 0.00 71 4 5.26 CD163 0 genome.wustl.edu 37 12 7647722 7647722 + Nonsense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 7647722 7647722 C A SNP CD163 ENST00000359156 human ensembl 74_37 -1 known nonsense c.1375 p.G459* 0.936 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 tier1 - - 47 0 0.00 65 4 5.80 CD1C 0 genome.wustl.edu 37 1 158261014 158261014 + Missense_Mutation SNP A A C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 158261014 158261014 A C SNP CD1C ENST00000368170 human ensembl 74_37 +1 known missense c.152 p.D51A 0.002 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1C HGNC ENSG00000158481 tier1 - - 40 0 0.00 113 9 7.38 CD1D 0 genome.wustl.edu 37 1 158152092 158152092 + Missense_Mutation SNP A A T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 158152092 158152092 A T SNP CD1D ENST00000368171 human ensembl 74_37 +1 known missense c.599 p.K200M 0.840 superfamily_MHC_I/II-like_Ag-recog,pfscan_Ig-like_dom pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1D HGNC ENSG00000158473 tier1 - - 114 0 0.00 92 36 28.12 CDH8 0 genome.wustl.edu 37 16 61851392 61851392 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 16 61851392 61851392 C A SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.1268 p.S423I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 tier1 - - 57 0 0.00 38 26 40.62 CDKN2A 0 genome.wustl.edu 37 9 21971175 21971175 + Frame_Shift_Del DEL C C - TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 9 21971175 21971175 C - DEL CDKN2A ENST00000361570 human ensembl 74_37 -1 known frame_shift_del c.349 p.A117fs 0.005 NULL pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC ENSG00000147889 tier1 13 0 0.00 1 3 75.00 CEP78 0 genome.wustl.edu 37 9 80858446 80858446 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 9 80858446 80858446 C T SNP CEP78 ENST00000376597 human ensembl 74_37 +1 known silent c.672 p.D224 0.752 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors CEP78 HGNC ENSG00000148019 tier1 - - 48 0 0.00 46 17 26.98 CHM 0 genome.wustl.edu 37 X 85212893 85212893 + Missense_Mutation SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 X 85212893 85212893 T C SNP CHM ENST00000357749 human ensembl 74_37 -1 known missense c.907 p.M303V 0.991 pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 tier1 - - 48 0 0.00 7 33 82.50 CHN1 0 genome.wustl.edu 37 2 175742705 175742705 + Missense_Mutation SNP T T A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 175742705 175742705 T A SNP CHN1 ENST00000409900 human ensembl 74_37 -1 known missense c.412 p.T138S 1.000 pirsf_N-chimaerin pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN1 HGNC ENSG00000128656 tier1 - - 39 0 0.00 46 56 54.90 CHUK 0 genome.wustl.edu 37 10 101959766 101959766 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 101959766 101959766 G T SNP CHUK ENST00000370397 human ensembl 74_37 -1 known missense c.1691 p.A564D 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors CHUK HGNC ENSG00000213341 44 0 0.00 52 4 7.14 CLEC9A 0 genome.wustl.edu 37 12 10218213 10218213 + Silent SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 10218213 10218213 G T SNP CLEC9A ENST00000355819 human ensembl 74_37 +1 putative silent c.708 p.A236 0.000 superfamily_C-type_lectin_fold pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC9A HGNC ENSG00000197992 30 0 0.00 37 2 5.13 CLHC1 0 genome.wustl.edu 37 2 55403045 55403045 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 55403045 55403045 G T SNP CLHC1 ENST00000401408 human ensembl 74_37 -1 known missense c.1642 p.Q548K 1.000 pirsf_Clathrin_heavy-chain-rel superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel - no_errors CLHC1 HGNC ENSG00000162994 tier1 - - 40 0 0.00 65 4 5.80 CLIP2 0 genome.wustl.edu 37 7 73791017 73791017 + Silent SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 7 73791017 73791017 G A SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known silent c.2286 p.K762 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 tier1 - - 67 0 0.00 69 20 22.47 CLPB 0 genome.wustl.edu 37 11 72004486 72004486 + Silent SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 72004486 72004486 G T SNP CLPB ENST00000294053 human ensembl 74_37 -1 known silent c.2049 p.I683 0.887 NULL pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,prints_ClpA/B,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CLPB HGNC ENSG00000162129 50 0 0.00 63 4 5.97 CNGA1 0 genome.wustl.edu 37 4 47938583 47938583 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 47938583 47938583 C T SNP CNGA1 ENST00000402813 human ensembl 74_37 -1 known missense c.2135 p.R712Q 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA1 HGNC ENSG00000198515 41 0 0.00 50 3 5.66 CNTLN 0 genome.wustl.edu 37 9 17457615 17457615 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 9 17457615 17457615 G A SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.3208 p.E1070K 0.950 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 tier1 - - 121 0 0.00 124 43 25.75 COL11A1 0 genome.wustl.edu 37 1 103343611 103343611 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 103343611 103343611 G T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.5421 p.F1807L 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 38 0 0.00 46 3 6.12 COL1A2 0 genome.wustl.edu 37 7 94052369 94052369 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 7 94052369 94052369 G A SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.2504 p.G835D 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 tier1 - - 58 0 0.00 84 59 41.26 COL6A2 0 genome.wustl.edu 37 21 47552323 47552323 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 21 47552323 47552323 G T SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.2917 p.V973L 0.998 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 tier1 - - 40 0 0.00 15 13 46.43 CSMD1 0 genome.wustl.edu 37 8 2967710 2967710 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 8 2967710 2967710 G A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.6581 p.T2194M 0.995 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 CSMD1 HGNC ENSG00000183117 tier1 - - 55 0 0.00 58 20 25.64 CSMD1 0 genome.wustl.edu 37 8 2824268 2824268 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 8 2824268 2824268 G A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.8927 p.A2976V 0.996 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 CSMD1 HGNC ENSG00000183117 48 0 0.00 68 4 5.56 CSMD3 0 genome.wustl.edu 37 8 113299394 113299394 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 8 113299394 113299394 G T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.9230 p.T3077N 0.421 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 CSMD3 HGNC ENSG00000164796 26 0 0.00 29 2 6.45 CYP11A1 0 genome.wustl.edu 37 15 74636231 74636231 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 15 74636231 74636231 G T SNP CYP11A1 ENST00000268053 human ensembl 74_37 -1 known missense c.728 p.T243N 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP11A1 HGNC ENSG00000140459 tier1 - - 71 0 0.00 49 4 7.55 CYP19A1 0 genome.wustl.edu 37 15 51507369 51507369 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 15 51507369 51507369 C A SNP CYP19A1 ENST00000260433 human ensembl 74_37 -1 known missense c.919 p.A307S 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP19A1 HGNC ENSG00000137869 35 0 0.00 44 3 6.38 CYP4F22 0 genome.wustl.edu 37 19 15658973 15658973 + Silent SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 15658973 15658973 C A SNP CYP4F22 ENST00000269703 human ensembl 74_37 +1 known silent c.1191 p.R397 0.721 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_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 tier1 - - 43 0 0.00 52 4 7.14 CYP4F35P 0 genome.wustl.edu 37 18 14339564 14339564 + RNA SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 18 14339564 14339564 C T SNP CYP4F35P ENST00000582957 human ensembl 74_37 +1 known rna NULL NULL 0.088 - - - no_errors CYP4F35P HGNC ENSG00000265787 tier1 - - 44 0 0.00 22 19 45.24 DAAM2 0 genome.wustl.edu 37 6 39846262 39846262 + Silent SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 39846262 39846262 G A SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known silent c.1443 p.R481 1.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 tier1 - - 61 0 0.00 68 14 17.07 DACT3 0 genome.wustl.edu 37 19 47151905 47151905 + Nonsense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 47151905 47151905 C T SNP DACT3 ENST00000391916 human ensembl 74_37 -1 known nonsense c.1724 p.W575* 1.000 NULL NULL - no_errors DACT3 HGNC ENSG00000197380 tier1 - - 20 0 0.00 6 16 72.73 DBF4 0 genome.wustl.edu 37 7 87507388 87507389 + Frame_Shift_Ins INS - - A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 7 87507388 87507389 - A INS DBF4 ENST00000265728 human ensembl 74_37 +1 known frame_shift_ins c.67_68 p.N25fs 1.000:1.000 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4 HGNC ENSG00000006634 tier1 165 0 0.00 139 93 40.09 DCBLD1 0 genome.wustl.edu 37 6 117859897 117859897 + Missense_Mutation SNP T T G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 117859897 117859897 T G SNP DCBLD1 ENST00000338728 human ensembl 74_37 +1 known missense c.875 p.L292R 0.951 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_LCCL,pfam_CUB_dom,superfamily_Galactose-bd-like,superfamily_LCCL,superfamily_CUB_dom,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD1 HGNC ENSG00000164465 tier1 - - 41 0 0.00 60 5 7.69 DCHS1 0 genome.wustl.edu 37 11 6651816 6651816 + Silent SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 6651816 6651816 G A SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known silent c.4209 p.R1403 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 13 0 0.00 3 3 50.00 DCT 0 genome.wustl.edu 37 13 95092239 95092239 + Silent SNP A A G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 13 95092239 95092239 A G SNP DCT ENST00000446125 human ensembl 74_37 -1 known silent c.1572 p.A524 0.003 NULL pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 tier1 - - 34 0 0.00 22 31 58.49 DDX3Y 0 genome.wustl.edu 37 Y 15021383 15021383 + RNA SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 Y 15021383 15021383 G T SNP DDX3Y ENST00000493363 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DDX3Y HGNC ENSG00000067048 tier1 - - 36 0 0.00 41 4 8.89 DDX60 0 genome.wustl.edu 37 4 169201719 169201719 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 169201719 169201719 G T SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known missense c.1745 p.A582D 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 34 0 0.00 65 5 7.14 DENND4C 0 genome.wustl.edu 37 9 19346068 19346068 + Silent SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 9 19346068 19346068 C A SNP DENND4C ENST00000602925 human ensembl 74_37 +1 known silent c.3154 p.R1052 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 tier1 - - 67 0 0.00 71 4 5.33 DIAPH3 0 genome.wustl.edu 37 13 60435609 60435609 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 13 60435609 60435609 C T SNP DIAPH3 ENST00000400324 human ensembl 74_37 -1 known missense c.2669 p.C890Y 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 tier1 - - 50 0 0.00 100 22 18.03 DIP2B 0 genome.wustl.edu 37 12 51089677 51089677 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 51089677 51089677 G T SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.1860 p.M620I 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 46 0 0.00 58 4 6.45 DLEU2 0 genome.wustl.edu 37 13 50623719 50623719 + Splice_Site SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 13 50623719 50623719 C T SNP DLEU2 ENST00000235290 human ensembl 74_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors DLEU2 HGNC ENSG00000231607 tier1 - - 23 0 0.00 18 47 72.31 DLGAP1-AS1 0 genome.wustl.edu 37 18 3597090 3597090 + RNA DEL T T - TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 18 3597090 3597090 T - DEL DLGAP1-AS1 ENST00000317114 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors DLGAP1-AS1 HGNC ENSG00000177337 tier1 47 0 0.00 29 3 9.38 DMBT1 0 genome.wustl.edu 37 10 124396670 124396670 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 124396670 124396670 C A SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.6397 p.Q2133K 0.636 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom 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 - - 56 0 0.00 72 5 6.49 DNAH1 0 genome.wustl.edu 37 3 52406928 52406928 + Nonsense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 52406928 52406928 G T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known nonsense c.6844 p.G2282* 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 tier1 - - 62 0 0.00 52 4 7.14 DNAH3 0 genome.wustl.edu 37 16 21098317 21098317 + Silent SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 16 21098317 21098317 C A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.2730 p.T910 0.806 pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 43 0 0.00 58 38 39.58 DNAJC1 0 genome.wustl.edu 37 10 22208783 22208783 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 22208783 22208783 C T SNP DNAJC1 ENST00000376980 human ensembl 74_37 -1 known missense c.613 p.G205S 0.933 NULL pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC1 HGNC ENSG00000136770 tier1 - - 23 0 0.00 15 29 64.44 DNAJC13 0 genome.wustl.edu 37 3 132221270 132221270 + Silent SNP A A T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 132221270 132221270 A T SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known silent c.4674 p.L1558 1.000 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 tier1 - - 52 0 0.00 117 8 6.40 DNAJC2 0 genome.wustl.edu 37 7 102964049 102964051 + In_Frame_Del DEL CTG CTG - TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 7 102964049 102964051 CTG - DEL DNAJC2 ENST00000379263 human ensembl 74_37 -1 known in_frame_del c.715_713 p.A238in_frame_del 1.000:0.998:1.000 NULL pfam_SANT/Myb,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain - no_errors DNAJC2 HGNC ENSG00000105821 tier1 50 0 0.00 65 32 32.99 DNAJC2 0 genome.wustl.edu 37 7 102964051 102964051 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 7 102964051 102964051 G T SNP DNAJC2 ENST00000379263 human ensembl 74_37 -1 known missense c.713 p.A238E 1.000 NULL pfam_SANT/Myb,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain - no_errors DNAJC2 HGNC ENSG00000105821 48 0 0.00 54 12 18.18 DNAJC2 0 genome.wustl.edu 37 7 102964052 102964052 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 7 102964052 102964052 C T SNP DNAJC2 ENST00000379263 human ensembl 74_37 -1 known missense c.712 p.A238T 1.000 NULL pfam_SANT/Myb,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain - no_errors DNAJC2 HGNC ENSG00000105821 48 0 0.00 89 9 9.18 DNHD1 0 genome.wustl.edu 37 11 6565398 6565398 + Missense_Mutation SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 6565398 6565398 T C SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.3676 p.S1226P 0.971 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 39 0 0.00 54 4 6.90 DPPA3P2 0 genome.wustl.edu 37 14 36840721 36840721 + RNA SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 14 36840721 36840721 G A SNP DPPA3P2 ENST00000557188 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors DPPA3P2 HGNC ENSG00000188831 tier1 - - 54 0 0.00 41 43 51.19 DPY19L2P2 0 genome.wustl.edu 37 7 102912317 102912318 + Splice_Site INS - - T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 7 102912317 102912318 - T INS DPY19L2P2 ENST00000312132 human ensembl 74_37 -1 known splice_site_ins c.NULL NULL 1.000:1.000 - - - no_errors DPY19L2P2 HGNC ENSG00000170629 tier1 132 0 0.00 224 26 10.40 DUSP13 0 genome.wustl.edu 37 10 76863737 76863737 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 76863737 76863737 C T SNP DUSP13 ENST00000491677 human ensembl 74_37 -1 known missense c.206 p.R69H 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP13 HGNC ENSG00000079393 tier1 - - 113 0 0.00 62 26 29.55 DUSP7 0 genome.wustl.edu 37 3 52088231 52088231 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 52088231 52088231 G T SNP DUSP7 ENST00000296483 human ensembl 74_37 -1 known missense c.524 p.P175H 1.000 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP7 HGNC ENSG00000164086 55 0 0.00 29 2 6.45 DYSF 0 genome.wustl.edu 37 2 71797921 71797921 + RNA SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 71797921 71797921 C T SNP DYSF ENST00000461565 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors DYSF HGNC ENSG00000135636 tier1 - - 44 0 0.00 31 25 44.64 ECEL1 0 genome.wustl.edu 37 2 233347591 233347591 + Missense_Mutation SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 233347591 233347591 T C SNP ECEL1 ENST00000304546 human ensembl 74_37 -1 known missense c.1655 p.K552R 1.000 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 tier1 - - 90 0 0.00 65 14 17.72 EFNA3 0 genome.wustl.edu 37 1 155059036 155059036 + RNA DEL G G - TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 155059036 155059036 G - DEL EFNA3 ENST00000470294 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EFNA3 HGNC ENSG00000143590 tier1 86 0 0.00 105 24 18.60 EGFR 0 genome.wustl.edu 37 7 55233043 55233043 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 7 55233043 55233043 G A SNP EGFR ENST00000275493 human ensembl 74_37 +1 known missense c.1793 p.G598E 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat 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 EGFR HGNC ENSG00000146648 tier1 - - 46 0 0.00 39 25 39.06 EIF2AK3 0 genome.wustl.edu 37 2 88874663 88874663 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 88874663 88874663 C T SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known missense c.2338 p.D780N 0.862 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,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 26 0 0.00 37 2 5.13 EIF3H 0 genome.wustl.edu 37 8 117668098 117668098 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 8 117668098 117668098 C T SNP EIF3H ENST00000521861 human ensembl 74_37 -1 known missense c.704 p.S235N 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors EIF3H HGNC ENSG00000147677 27 0 0.00 38 2 5.00 ELAVL4 0 genome.wustl.edu 37 1 50663196 50663197 + RNA INS - - T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 50663196 50663197 - T INS ELAVL4 ENST00000474675 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors ELAVL4 HGNC ENSG00000162374 tier1 24 0 0.00 28 5 15.15 ELMSAN1 0 genome.wustl.edu 37 14 74203747 74203747 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 14 74203747 74203747 G A SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known missense c.1703 p.T568I 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 tier1 - - 105 0 0.00 105 15 12.50 EMC2 0 genome.wustl.edu 37 8 109491236 109491236 + Missense_Mutation SNP C C G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 8 109491236 109491236 C G SNP EMC2 ENST00000220853 human ensembl 74_37 +1 known missense c.704 p.S235W 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors EMC2 HGNC ENSG00000104412 tier1 - - 22 0 0.00 12 11 47.83 ENPP5 0 genome.wustl.edu 37 6 46135472 46135472 + Silent SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 46135472 46135472 T C SNP ENPP5 ENST00000230565 human ensembl 74_37 -1 known silent c.528 p.S176 0.839 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP5 HGNC ENSG00000112796 tier1 - - 23 0 0.00 41 13 24.07 ENSG00000212045 0 genome.wustl.edu 37 4 29751861 29751861 + RNA DEL A A - TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 29751861 29751861 A - DEL ENSG00000212045 ENST00000390756 human ensembl 74_37 +1 novel rna NULL NULL 1.000 - - - no_errors AC109351.1 Clone_based_ensembl_gene ENSG00000212045 tier1 47 0 0.00 58 8 12.12 ENSG00000217825 0 genome.wustl.edu 37 7 154988978 154988978 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 7 154988978 154988978 G T SNP ENSG00000217825 ENST00000404289 human ensembl 74_37 -1 putative missense c.139 p.L47I 0.200 NULL NULL - no_errors AC099552.4 Clone_based_vega_gene ENSG00000217825 tier1 - - 82 0 0.00 62 4 6.06 ENSG00000219926 0 genome.wustl.edu 37 13 64413248 64413248 + RNA SNP A A T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 13 64413248 64413248 A T SNP ENSG00000219926 ENST00000606050 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors RP11-394A14.2 Clone_based_vega_gene ENSG00000219926 tier1 - - 129 0 0.00 93 8 7.92 ENSG00000223401 0 genome.wustl.edu 37 3 187463074 187463075 + RNA INS - - A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 187463074 187463075 - A INS ENSG00000223401 ENST00000450760 human ensembl 74_37 +1 known rna NULL NULL 0.969:0.026 - - - no_errors RP11-211G3.2 Clone_based_vega_gene ENSG00000223401 tier1 90 0 0.00 57 5 8.06 ENSG00000224149 0 genome.wustl.edu 37 1 75596421 75596421 + RNA SNP A A C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 75596421 75596421 A C SNP ENSG00000224149 ENST00000427892 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-510C10.3 Clone_based_vega_gene ENSG00000224149 tier1 - - 124 0 0.00 108 37 25.52 ENSG00000234978 0 genome.wustl.edu 37 1 142803930 142803930 + RNA SNP A A G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 142803930 142803930 A G SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 tier1 rs74792472 - 41 0 0.00 36 4 10.00 ENSG00000237357 0 genome.wustl.edu 37 9 44403205 44403205 + RNA SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 9 44403205 44403205 T C SNP ENSG00000237357 ENST00000425309 human ensembl 74_37 +1 known rna NULL NULL 0.355 - - - no_errors RP11-475I24.3 Clone_based_vega_gene ENSG00000237357 tier1 - - 40 0 0.00 32 7 17.95 ENSG00000242540 0 genome.wustl.edu 37 2 5836388 5836388 + RNA SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 5836388 5836388 C T SNP ENSG00000242540 ENST00000455579 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors AC010729.1 Clone_based_vega_gene ENSG00000242540 tier1 - - 199 0 0.00 86 90 51.14 ENSG00000254665 0 genome.wustl.edu 37 11 8715405 8715405 + RNA SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 8715405 8715405 G A SNP ENSG00000254665 ENST00000529883 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-152H18.3 Clone_based_vega_gene ENSG00000254665 tier1 - - 70 0 0.00 55 24 30.00 ENSG00000261788 0 genome.wustl.edu 37 16 46737582 46737583 + RNA INS - - A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 16 46737582 46737583 - A INS ENSG00000261788 ENST00000562218 human ensembl 74_37 -1 known rna NULL NULL 0.083:0.072 - - - no_errors RP11-480G7.1 Clone_based_vega_gene ENSG00000261788 tier1 30 0 0.00 22 8 26.67 ENSG00000268713 0 genome.wustl.edu 37 19 57773715 57773716 + RNA INS - - A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 57773715 57773716 0 A INS ENSG00000268713 ENST00000600047 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors CTC-444N24.8 Clone_based_vega_gene ENSG00000268713 63 0 0.00 127 7 5.22 ENSG00000273151 0 genome.wustl.edu 37 7 925793 925793 + RNA SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 7 925793 925793 T C SNP ENSG00000273151 ENST00000609998 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-449P15.2 Clone_based_vega_gene ENSG00000273151 tier1 - - 66 0 0.00 137 9 6.12 EP400 0 genome.wustl.edu 37 12 132512805 132512805 + Nonsense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 132512805 132512805 G T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known nonsense c.5461 p.G1821* 0.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 124 0 0.00 87 5 5.43 EPHA8 0 genome.wustl.edu 37 1 22902916 22902916 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 22902916 22902916 C A SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known missense c.366 p.F122L 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_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 EPHA8 HGNC ENSG00000070886 60 0 0.00 70 4 5.41 EPPK1 0 genome.wustl.edu 37 8 144942890 144942890 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 8 144942890 144942890 G A SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.4532 p.A1511V 0.000 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 tier1 - - 20 0 0.00 26 8 23.53 EPS8L3 0 genome.wustl.edu 37 1 110299762 110299762 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 110299762 110299762 C T SNP EPS8L3 ENST00000369805 human ensembl 74_37 -1 known missense c.998 p.G333D 0.000 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC ENSG00000198758 tier1 - - 36 0 0.00 62 4 6.06 ERBB4 0 genome.wustl.edu 37 2 212812173 212812173 + Nonsense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 212812173 212812173 C A SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known nonsense c.403 p.G135* 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 35 0 0.00 48 4 7.69 ERC2 0 genome.wustl.edu 37 3 56026194 56026194 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 56026194 56026194 G T SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known missense c.2146 p.R716S 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 tier1 - - 40 0 0.00 51 4 7.27 ERCC6L2 0 genome.wustl.edu 37 9 98729016 98729016 + RNA SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 9 98729016 98729016 C A SNP ERCC6L2 ENST00000466840 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ERCC6L2 HGNC ENSG00000182150 tier1 - - 40 0 0.00 19 16 45.71 ERVV-1 0 genome.wustl.edu 37 19 53518336 53518336 + Silent SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 53518336 53518336 G A SNP ERVV-1 ENST00000602168 human ensembl 74_37 +1 known silent c.993 p.A331 0.001 pfam_TLV/ENV_coat_polyprotein pfam_TLV/ENV_coat_polyprotein - no_errors ERVV-1 HGNC ENSG00000269526 tier1 rs139323953 - 60 0 0.00 99 17 14.53 EVI5 0 genome.wustl.edu 37 1 93101861 93101861 + Frame_Shift_Del DEL A A - TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 93101861 93101861 A - DEL EVI5 ENST00000543509 human ensembl 74_37 -1 known frame_shift_del c.1410 p.F470fs 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5 HGNC ENSG00000067208 tier1 79 0 0.00 65 15 18.75 EXOC4 0 genome.wustl.edu 37 7 133314798 133314798 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 7 133314798 133314798 G A SNP EXOC4 ENST00000253861 human ensembl 74_37 +1 known missense c.1418 p.G473E 1.000 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 tier1 - - 29 0 0.00 39 16 29.09 EYS 0 genome.wustl.edu 37 6 66005740 66005741 + RNA INS - - AA TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 66005740 66005741 - AA INS EYS ENST00000370615 human ensembl 74_37 -1 putative rna NULL NULL 0.032:0.122 - - - no_errors EYS HGNC ENSG00000188107 tier1 14 0 0.00 29 4 12.12 FAM13C 0 genome.wustl.edu 37 10 61012606 61012606 + Missense_Mutation SNP T T G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 61012606 61012606 T G SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known missense c.1485 p.E495D 0.439 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 tier1 - - 70 0 0.00 75 8 9.64 FAM167B 0 genome.wustl.edu 37 1 32713121 32713121 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 32713121 32713121 G T SNP FAM167B ENST00000373582 human ensembl 74_37 +1 known missense c.99 p.K33N 1.000 NULL pfam_FAM167 - no_errors FAM167B HGNC ENSG00000183615 tier1 - - 74 0 0.00 76 4 5.00 FAM46A 0 genome.wustl.edu 37 6 82459466 82459466 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 82459466 82459466 C A SNP FAM46A ENST00000369754 human ensembl 74_37 -1 known missense c.1332 p.Q444H 1.000 NULL pfam_DUF1693 - no_errors FAM46A HGNC ENSG00000112773 84 0 0.00 70 4 5.41 FAT1 0 genome.wustl.edu 37 4 187510244 187510244 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 187510244 187510244 G T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.13269 p.D4423E 1.000 NULL 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 - - 58 0 0.00 70 4 5.41 FAT4 0 genome.wustl.edu 37 4 126402848 126402848 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 126402848 126402848 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.12771 p.G4257 0.976 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 50 0 0.00 40 39 49.37 FAT4 0 genome.wustl.edu 37 4 126241321 126241321 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 126241321 126241321 G T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.3755 p.G1252V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 46 0 0.00 55 3 5.17 FBN2 0 genome.wustl.edu 37 5 127595289 127595289 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 5 127595289 127595289 C T SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.8597 p.G2866D 0.999 pirsf_FBN,superfamily_Cadherin-like pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 50 0 0.00 43 4 8.51 FBN3 0 genome.wustl.edu 37 19 8152011 8152011 + Missense_Mutation SNP A A G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 8152011 8152011 A G SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.6704 p.V2235A 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 tier1 - - 42 0 0.00 28 10 26.32 FBXL4 0 genome.wustl.edu 37 6 99353423 99353423 + Missense_Mutation SNP A A G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 99353423 99353423 A G SNP FBXL4 ENST00000229971 human ensembl 74_37 -1 known missense c.982 p.Y328H 0.999 superfamily_F-box_dom,pfscan_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL4 HGNC ENSG00000112234 tier1 - - 46 0 0.00 41 22 34.92 FLG 0 genome.wustl.edu 37 1 152276671 152276671 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 152276671 152276671 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.10691 p.R3564H 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 rs7518080 - 110 0 0.00 230 28 10.85 FOLR4 0 genome.wustl.edu 37 11 94039705 94039705 + Nonsense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 94039705 94039705 C A SNP FOLR4 ENST00000440961 human ensembl 74_37 +1 novel nonsense c.165 p.C55* 1.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR4 HGNC ENSG00000183560 tier1 - - 18 0 0.00 8 6 42.86 FOS 0 genome.wustl.edu 37 14 75748089 75748089 + Missense_Mutation SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 14 75748089 75748089 T C SNP FOS ENST00000303562 human ensembl 74_37 +1 known missense c.1105 p.S369P 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOS HGNC ENSG00000170345 tier1 - - 47 0 0.00 11 23 67.65 FRG1B 0 genome.wustl.edu 37 20 29631557 29631557 + Missense_Mutation SNP A A G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 20 29631557 29631557 A G SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known missense c.353 p.K118R 1.000 pfam_FRG1 pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 33 0 0.00 40 3 6.98 FRMPD3 0 genome.wustl.edu 37 X 106845185 106845185 + Silent SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 X 106845185 106845185 C A SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known silent c.4015 p.R1339 0.983 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 tier1 - - 42 0 0.00 6 16 72.73 FZD2 0 genome.wustl.edu 37 17 42636566 42636566 + Missense_Mutation SNP A A G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 17 42636566 42636566 A G SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known missense c.1510 p.I504V 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 tier1 - - 92 0 0.00 79 8 9.20 GABBR2 0 genome.wustl.edu 37 9 101056109 101056109 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 9 101056109 101056109 C T SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known missense c.2618 p.R873Q 0.997 NULL pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 tier1 - - 69 0 0.00 19 72 79.12 GCNT3 0 genome.wustl.edu 37 15 59911753 59911753 + Nonstop_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 15 59911753 59911753 G T SNP GCNT3 ENST00000396065 human ensembl 74_37 +1 known nonstop c.1316 p.*439L 1.000 NULL pfam_Glyco_trans_14 - no_errors GCNT3 HGNC ENSG00000140297 tier1 - - 48 0 0.00 72 4 5.19 GIGYF1 0 genome.wustl.edu 37 7 100284957 100284957 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 7 100284957 100284957 G T SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known missense c.446 p.P149H 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 45 0 0.00 58 4 6.45 GOLGA6L7P 0 genome.wustl.edu 37 15 29090312 29090312 + RNA SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 15 29090312 29090312 G A SNP GOLGA6L7P ENST00000569815 human ensembl 74_37 -1 putative rna NULL NULL 0.005 - - - no_errors GOLGA6L7P HGNC ENSG00000261649 9 0 0.00 14 3 17.65 GORASP1 0 genome.wustl.edu 37 3 39141811 39141811 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 39141811 39141811 C A SNP GORASP1 ENST00000319283 human ensembl 74_37 -1 known missense c.750 p.Q250H 0.996 pfam_GRASP55/65_PDZ pfam_GRASP55/65_PDZ,superfamily_PDZ - no_errors GORASP1 HGNC ENSG00000114745 tier1 - - 60 0 0.00 43 4 8.51 GPAT2 0 genome.wustl.edu 37 2 96691728 96691728 + Silent SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 96691728 96691728 G A SNP GPAT2 ENST00000359548 human ensembl 74_37 -1 known silent c.1188 p.G396 0.063 NULL smart_Plipid/glycerol_acylTrfase - no_errors GPAT2 HGNC ENSG00000186281 tier1 - - 97 0 0.00 88 18 16.98 GPR39 0 genome.wustl.edu 37 2 133402990 133402990 + Silent SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 133402990 133402990 G A SNP GPR39 ENST00000329321 human ensembl 74_37 +1 known silent c.1173 p.P391 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 tier1 - - 62 0 0.00 36 15 29.41 GPR45 0 genome.wustl.edu 37 2 105858480 105858480 + Silent SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 105858480 105858480 C A SNP GPR45 ENST00000258456 human ensembl 74_37 +1 known silent c.165 p.V55 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 tier1 - - 64 0 0.00 51 4 7.27 GPRC5A 0 genome.wustl.edu 37 12 13061546 13061546 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 13061546 13061546 G T SNP GPRC5A ENST00000014914 human ensembl 74_37 +1 known missense c.363 p.K121N 0.899 pfam_GPCR_3_C pfam_GPCR_3_C - no_errors GPRC5A HGNC ENSG00000013588 70 0 0.00 73 4 5.19 GRIN2A 0 genome.wustl.edu 37 16 9857432 9857432 + Silent SNP A A G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 16 9857432 9857432 A G SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known silent c.3969 p.N1323 0.004 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 tier1 - - 59 0 0.00 83 122 59.51 GRM1 0 genome.wustl.edu 37 6 146720166 146720166 + Missense_Mutation SNP T T G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 146720166 146720166 T G SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.1991 p.V664G 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 tier1 - - 42 0 0.00 24 17 41.46 GRPEL2 0 genome.wustl.edu 37 5 148725272 148725272 + RNA SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 5 148725272 148725272 C A SNP GRPEL2 ENST00000507562 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GRPEL2 HGNC ENSG00000164284 tier1 - - 52 0 0.00 42 4 8.70 GSTCD 0 genome.wustl.edu 37 4 106763267 106763267 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 106763267 106763267 C T SNP GSTCD ENST00000360505 human ensembl 74_37 +1 known missense c.1741 p.L581F 1.000 NULL pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom,superfamily_Glutathione-S-Trfase_C-like - no_errors GSTCD HGNC ENSG00000138780 tier1 - - 32 0 0.00 33 20 37.74 HABP2 0 genome.wustl.edu 37 10 115340369 115340369 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 115340369 115340369 C T SNP HABP2 ENST00000351270 human ensembl 74_37 +1 known silent c.756 p.D252 0.841 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Peptidase_S1,pfam_Kringle,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HABP2 HGNC ENSG00000148702 tier1 rs142304622 - 72 0 0.00 32 29 47.54 HAS1 0 genome.wustl.edu 37 19 52222984 52222984 + Silent SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 52222984 52222984 G A SNP HAS1 ENST00000601714 human ensembl 74_37 -1 known silent c.198 p.Y66 0.998 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 tier1 - - 10 0 0.00 12 6 33.33 HCFC2 0 genome.wustl.edu 37 12 104492126 104492126 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 104492126 104492126 G T SNP HCFC2 ENST00000229330 human ensembl 74_37 +1 known missense c.1746 p.E582D 0.465 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 tier1 - - 91 0 0.00 226 16 6.61 HCN3 0 genome.wustl.edu 37 1 155257872 155257872 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 155257872 155257872 G T SNP HCN3 ENST00000368358 human ensembl 74_37 +1 known missense c.1943 p.R648L 1.000 NULL pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN3 HGNC ENSG00000143630 47 0 0.00 34 2 5.56 HECTD4 0 genome.wustl.edu 37 12 112631334 112631334 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 112631334 112631334 G T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.8378 p.T2793N 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 68 0 0.00 73 4 5.19 HECTD4 0 genome.wustl.edu 37 12 112685929 112685929 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 112685929 112685929 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.3674 p.A1225V 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 28 0 0.00 51 4 7.27 HERC2 0 genome.wustl.edu 37 15 28431882 28431882 + Missense_Mutation SNP T T G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 15 28431882 28431882 T G SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.8666 p.E2889A 1.000 superfamily_Galactose-bd-like pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 50 0 0.00 21 14 40.00 HERC2P3 0 genome.wustl.edu 37 15 20588458 20588458 + RNA SNP G G C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 15 20588458 20588458 G C SNP HERC2P3 ENST00000428453 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors HERC2P3 HGNC ENSG00000180229 tier1 rs2291971 - 11 0 0.00 6 10 62.50 HFE2 0 genome.wustl.edu 37 1 145416451 145416451 + Nonsense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 145416451 145416451 C T SNP HFE2 ENST00000336751 human ensembl 74_37 +1 known nonsense c.796 p.Q266* 0.043 pfam_RGM_C pfam_RGM_N,pfam_RGM_C - no_errors HFE2 HGNC ENSG00000168509 tier1 - - 160 0 0.00 151 76 33.48 HMCN1 0 genome.wustl.edu 37 1 186017922 186017922 + Silent SNP A A T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 186017922 186017922 A T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.6528 p.A2176 0.957 pfam_Ig_I-set,smart_Ig_V-set_subgr,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 - - 40 0 0.00 48 13 21.31 HNF4A 0 genome.wustl.edu 37 20 43047127 43047127 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 20 43047127 43047127 G T SNP HNF4A ENST00000316099 human ensembl 74_37 +1 known missense c.711 p.M237I 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC ENSG00000101076 tier1 - - 26 0 0.00 27 4 12.90 HPGDS 0 genome.wustl.edu 37 4 95220738 95220738 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 95220738 95220738 G A SNP HPGDS ENST00000295256 human ensembl 74_37 -1 known missense c.493 p.P165S 0.844 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors HPGDS HGNC ENSG00000163106 tier1 - - 69 0 0.00 84 13 13.40 HTR7 0 genome.wustl.edu 37 10 92502287 92502288 + Splice_Site INS - - A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 92502287 92502288 - A INS HTR7 ENST00000336152 human ensembl 74_37 -1 known splice_site_ins c.1394-3_1394-2 e4-2 0.999:0.019 - - - no_errors HTR7 HGNC ENSG00000148680 tier1 18 0 0.00 20 2 9.09 HUWE1 0 genome.wustl.edu 37 X 53600757 53600757 + Missense_Mutation SNP T T A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 X 53600757 53600757 T A SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.6265 p.I2089F 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 64 0 0.00 38 23 37.70 ICMT 0 genome.wustl.edu 37 1 6291979 6291979 + Missense_Mutation SNP A A C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 6291979 6291979 A C SNP ICMT ENST00000343813 human ensembl 74_37 -1 known missense c.655 p.W219G 1.000 pfam_ICMT_MeTrfase pfam_ICMT_MeTrfase - no_errors ICMT HGNC ENSG00000116237 tier1 - - 188 0 0.00 174 35 16.75 IDH3B 0 genome.wustl.edu 37 20 2639430 2639430 + Silent SNP A A C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 20 2639430 2639430 A C SNP IDH3B ENST00000380843 human ensembl 74_37 -1 known silent c.1125 p.S375 0.994 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3B HGNC ENSG00000101365 tier1 - - 94 0 0.00 44 24 35.29 IFFO2 0 genome.wustl.edu 37 1 19236843 19236843 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 19236843 19236843 C T SNP IFFO2 ENST00000455833 human ensembl 74_37 -1 known missense c.1441 p.A481T 0.835 pfam_IF pfam_IF - no_errors IFFO2 HGNC ENSG00000169991 tier1 - - 109 0 0.00 113 6 5.04 IFI27L2 0 genome.wustl.edu 37 14 94594153 94594153 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 14 94594153 94594153 C T SNP IFI27L2 ENST00000238609 human ensembl 74_37 -1 known missense c.376 p.E126K 0.726 NULL pfam_IFI6/IFI27 - no_errors IFI27L2 HGNC ENSG00000119632 tier1 - - 115 0 0.00 90 32 26.23 IFT140 0 genome.wustl.edu 37 16 1574888 1574888 + Missense_Mutation SNP A A C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 16 1574888 1574888 A C SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known missense c.2894 p.L965R 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 IFT140 HGNC ENSG00000187535 tier1 - - 197 0 0.00 87 11 11.22 IGF2R 0 genome.wustl.edu 37 6 160494982 160494982 + Missense_Mutation SNP A A T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 160494982 160494982 A T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.5141 p.K1714I 1.000 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 tier1 - - 83 0 0.00 73 19 20.65 IL4R 0 genome.wustl.edu 37 16 27374546 27374546 + Missense_Mutation SNP A A G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 16 27374546 27374546 A G SNP IL4R ENST00000170630 human ensembl 74_37 +1 known missense c.1873 p.S625G 0.067 NULL pfam_IL-4_rcpt-alpha_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 tier1 - - 87 0 0.00 214 16 6.93 IL7R 0 genome.wustl.edu 37 5 35876108 35876108 + Silent SNP T T G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 5 35876108 35876108 T G SNP IL7R ENST00000303115 human ensembl 74_37 +1 known silent c.900 p.P300 0.871 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 tier1 - - 41 0 0.00 7 38 84.44 IMPDH2 0 genome.wustl.edu 37 3 49065934 49065934 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 49065934 49065934 G T SNP IMPDH2 ENST00000326739 human ensembl 74_37 -1 known missense c.179 p.T60N 1.000 pfam_IMP_DH_GMPRt,pfam_2Npropane_dOase,pirsf_IMP_DH,tigrfam_IMP_DH pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,pfam_NanE,smart_CBS_dom,pirsf_IMP_DH,tigrfam_IMP_DH - no_errors IMPDH2 HGNC ENSG00000178035 tier1 - - 69 0 0.00 61 4 6.15 IPO4 0 genome.wustl.edu 37 14 24657939 24657939 + Nonsense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 14 24657939 24657939 C A SNP IPO4 ENST00000354464 human ensembl 74_37 -1 known nonsense c.55 p.E19* 0.997 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC ENSG00000196497 tier1 - - 76 0 0.00 95 7 6.86 ITGAM 0 genome.wustl.edu 37 16 31309066 31309066 + Missense_Mutation SNP A A T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 16 31309066 31309066 A T SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known missense c.1501 p.R501W 0.091 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 tier1 - - 110 0 0.00 369 31 7.75 ITPKB 0 genome.wustl.edu 37 1 226923281 226923281 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 226923281 226923281 G T SNP ITPKB ENST00000272117 human ensembl 74_37 -1 known missense c.1879 p.L627M 0.996 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 tier1 - - 58 0 0.00 64 4 5.88 IWS1 0 genome.wustl.edu 37 2 128261067 128261067 + Silent SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 128261067 128261067 G A SNP IWS1 ENST00000295321 human ensembl 74_37 -1 known silent c.1305 p.T435 0.009 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 tier1 - - 27 0 0.00 32 4 11.11 JAK2 0 genome.wustl.edu 37 9 5069023 5069023 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 9 5069023 5069023 G T SNP JAK2 ENST00000381652 human ensembl 74_37 +1 known missense c.1328 p.R443L 0.984 pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,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_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 tier1 - - 56 0 0.00 43 4 8.51 JMJD1C 0 genome.wustl.edu 37 10 64967532 64967532 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 64967532 64967532 C T SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known silent c.3897 p.Q1299 0.941 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 tier1 - - 29 0 0.00 48 12 20.00 KCNAB2 0 genome.wustl.edu 37 1 6111615 6111615 + Missense_Mutation SNP A A T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 6111615 6111615 A T SNP KCNAB2 ENST00000378083 human ensembl 74_37 +1 known missense c.19 p.S7C 1.000 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB2 HGNC ENSG00000069424 tier1 - - 32 0 0.00 18 27 60.00 KCNMA1 0 genome.wustl.edu 37 10 78799285 78799285 + Splice_Site SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 78799285 78799285 C T SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known splice_site c.1859+1 e15+1 1.000 - - - no_errors KCNMA1 HGNC ENSG00000156113 tier1 - - 36 0 0.00 36 16 30.77 KCNN3 0 genome.wustl.edu 37 1 154842330 154842331 + In_Frame_Ins INS - - TGC TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 154842330 154842331 - TGC INS KCNN3 ENST00000271915 human ensembl 74_37 -1 novel in_frame_ins c.111_110 p.41in_frame_insQ 0.893:0.882 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 tier1 139 0 0.00 125 22 14.97 KCNQ1DN 0 genome.wustl.edu 37 11 2892082 2892082 + RNA SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 2892082 2892082 C T SNP KCNQ1DN ENST00000441418 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors KCNQ1DN HGNC ENSG00000237941 tier1 - - 129 0 0.00 72 55 43.31 KCNU1 0 genome.wustl.edu 37 8 36767014 36767014 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 8 36767014 36767014 G T SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known missense c.2292 p.W764C 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 tier1 - - 36 0 0.00 65 4 5.80 KHDC1 0 genome.wustl.edu 37 6 74001721 74001721 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 74001721 74001721 C T SNP KHDC1 ENST00000370384 human ensembl 74_37 -1 putative missense c.206 p.R69K 0.999 NULL NULL - no_errors KHDC1 HGNC ENSG00000135314 91 0 0.00 145 11 7.05 KHDC1 0 genome.wustl.edu 37 6 74001756 74001756 + Silent SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 74001756 74001756 G A SNP KHDC1 ENST00000370384 human ensembl 74_37 -1 putative silent c.171 p.N57 0.608 NULL NULL - no_errors KHDC1 HGNC ENSG00000135314 92 0 0.00 151 12 7.36 KIAA0825 0 genome.wustl.edu 37 5 93753085 93753085 + Missense_Mutation SNP T T A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 5 93753085 93753085 T A SNP KIAA0825 ENST00000312498 human ensembl 74_37 -1 known missense c.2498 p.K833I 0.449 NULL NULL - no_errors KIAA0825 HGNC ENSG00000185261 tier1 - - 33 0 0.00 26 16 38.10 KIAA1549L 0 genome.wustl.edu 37 11 33667346 33667346 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 33667346 33667346 C T SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.4651 p.P1551S 1.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 tier1 - - 114 0 0.00 70 15 17.65 KIAA2022 0 genome.wustl.edu 37 X 73962149 73962149 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 X 73962149 73962149 G T SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.2243 p.P748H 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 37 0 0.00 39 3 7.14 KIF26B 0 genome.wustl.edu 37 1 245809487 245809487 + Missense_Mutation SNP A A C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 245809487 245809487 A C SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.2163 p.K721N 0.968 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 41 0 0.00 66 7 9.59 KLHL32 0 genome.wustl.edu 37 6 97561851 97561851 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 97561851 97561851 C A SNP KLHL32 ENST00000369261 human ensembl 74_37 +1 known missense c.820 p.Q274K 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL32 HGNC ENSG00000186231 42 0 0.00 38 2 5.00 KMT2D 0 genome.wustl.edu 37 12 49433544 49433544 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 49433544 49433544 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.8009 p.S2670F 0.919 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 68 0 0.00 25 14 35.90 LARGE 0 genome.wustl.edu 37 22 33712229 33712229 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 22 33712229 33712229 C T SNP LARGE ENST00000354992 human ensembl 74_37 -1 known silent c.1293 p.Q431 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 tier1 - - 30 0 0.00 27 19 41.30 LATS2 0 genome.wustl.edu 37 13 21562256 21562256 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 13 21562256 21562256 C A SNP LATS2 ENST00000382592 human ensembl 74_37 -1 known missense c.1663 p.D555Y 0.432 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 tier1 - - 130 0 0.00 57 27 32.14 LGALS4 0 genome.wustl.edu 37 19 39303571 39303571 + RNA SNP G G C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 39303571 39303571 G C SNP LGALS4 ENST00000597803 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors LGALS4 HGNC ENSG00000171747 tier1 - - 66 0 0.00 96 8 7.69 LHX8 0 genome.wustl.edu 37 1 75602808 75602808 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 75602808 75602808 C T SNP LHX8 ENST00000294638 human ensembl 74_37 +1 known silent c.129 p.D43 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX8 HGNC ENSG00000162624 tier1 - - 28 0 0.00 28 10 25.64 LINC00618 0 genome.wustl.edu 37 14 97411731 97411731 + RNA DEL A A - TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 14 97411731 97411731 A - DEL LINC00618 ENST00000435624 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors LINC00618 HGNC ENSG00000225163 tier1 26 0 0.00 17 9 34.62 LMBR1L 0 genome.wustl.edu 37 12 49494393 49494393 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 49494393 49494393 G T SNP LMBR1L ENST00000267102 human ensembl 74_37 -1 known missense c.1119 p.S373R 1.000 pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt - no_errors LMBR1L HGNC ENSG00000139636 tier1 - - 67 0 0.00 78 5 6.02 LOC100129434 0 genome.wustl.edu 37 2 56403059 56403059 + RNA SNP A A C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 56403059 56403059 A C SNP LOC100129434 ENST00000432793 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC007743.1 Clone_based_vega_gene ENSG00000233251 tier1 - - 16 0 0.00 21 12 36.36 LOC100996870 0 genome.wustl.edu 37 9 66466216 66466216 + RNA SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 9 66466216 66466216 C T SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.068 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 tier1 rs112543984 - 8 0 0.00 7 7 50.00 LOC101929847 0 genome.wustl.edu 37 15 84868719 84868719 + RNA SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 15 84868719 84868719 G T SNP LOC101929847 ENST00000316967 human ensembl 74_37 -1 known rna NULL NULL 0.305 - - - no_errors AC103965.1 Clone_based_vega_gene ENSG00000225151 54 0 0.00 33 3 8.11 LOC283692 0 genome.wustl.edu 37 15 83360866 83360866 + RNA SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 15 83360866 83360866 G A SNP LOC283692 ENST00000560650 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-752G15.3 Clone_based_vega_gene ENSG00000259462 tier1 - - 92 0 0.00 64 26 28.89 LRP1B 0 genome.wustl.edu 37 2 141819787 141819787 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 141819787 141819787 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.1069 p.D357N 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_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 8 0 0.00 2 2 50.00 LRRC4B 0 genome.wustl.edu 37 19 51021420 51021420 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 51021420 51021420 G A SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.1550 p.T517M 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,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 LRRC4B HGNC ENSG00000131409 tier1 - - 24 0 0.00 17 13 43.33 LRRC6 0 genome.wustl.edu 37 8 133584607 133584607 + Missense_Mutation SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 8 133584607 133584607 T C SNP LRRC6 ENST00000250173 human ensembl 74_37 -1 known missense c.1348 p.S450G 0.000 NULL superfamily_HSP20-like_chaperone,smart_U2A'_phosphoprotein32A_C,pfscan_CS_dom - no_errors LRRC6 HGNC ENSG00000129295 tier1 - - 48 0 0.00 72 11 13.25 LRRK2 0 genome.wustl.edu 37 12 40643716 40643716 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 40643716 40643716 G T SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.927 p.Q309H 0.176 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 32 0 0.00 25 2 7.41 MACC1 0 genome.wustl.edu 37 7 20199215 20199215 + Missense_Mutation SNP G G C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 7 20199215 20199215 G C SNP MACC1 ENST00000332878 human ensembl 74_37 -1 known missense c.769 p.P257A 1.000 NULL pfam_SH3_2,superfamily_DEATH-like_dom - no_errors MACC1 HGNC ENSG00000183742 tier1 - - 34 0 0.00 46 17 26.98 MACF1 0 genome.wustl.edu 37 1 39800561 39800561 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 39800561 39800561 C T SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative silent c.8412 p.S2804 0.011 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_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 MACF1 HGNC ENSG00000127603 tier1 - - 52 0 0.00 54 35 39.33 MAEL 0 genome.wustl.edu 37 1 166990945 166990945 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 166990945 166990945 C A SNP MAEL ENST00000367872 human ensembl 74_37 +1 known missense c.1158 p.S386R 0.986 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_CH-domain - no_errors MAEL HGNC ENSG00000143194 tier1 - - 54 0 0.00 78 16 17.02 MAF 0 genome.wustl.edu 37 16 79632734 79632734 + Missense_Mutation SNP A A G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 16 79632734 79632734 A G SNP MAF ENST00000326043 human ensembl 74_37 -1 known missense c.1066 p.F356L 1.000 NULL pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAF HGNC ENSG00000178573 tier1 - - 132 0 0.00 79 35 30.70 MAGEB10 0 genome.wustl.edu 37 X 27839520 27839520 + Nonsense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 X 27839520 27839520 G T SNP MAGEB10 ENST00000356790 human ensembl 74_37 +1 known nonsense c.97 p.E33* 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB10 HGNC ENSG00000177689 tier1 - - 47 0 0.00 56 4 6.67 MAGI1 0 genome.wustl.edu 37 3 65425633 65425633 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 65425633 65425633 C A SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.1191 p.K397N 1.000 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 27 0 0.00 23 2 8.00 MAN2B2 0 genome.wustl.edu 37 4 6596273 6596273 + Nonsense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 6596273 6596273 C T SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known nonsense c.871 p.Q291* 1.000 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 tier1 - - 47 0 0.00 65 4 5.80 MANSC4 0 genome.wustl.edu 37 12 27916260 27916260 + Missense_Mutation SNP C C G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 27916260 27916260 C G SNP MANSC4 ENST00000381273 human ensembl 74_37 -1 novel missense c.434 p.R145T 0.000 NULL pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC - no_errors MANSC4 HGNC ENSG00000205693 66 0 0.00 120 10 7.69 MAP2 0 genome.wustl.edu 37 2 210559473 210559473 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 210559473 210559473 C T SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.2579 p.T860M 0.735 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 25 0 0.00 40 17 29.82 MAP2 0 genome.wustl.edu 37 2 210588377 210588377 + Missense_Mutation SNP A A C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 210588377 210588377 A C SNP MAP2 ENST00000199940 human ensembl 74_37 +1 known missense c.1235 p.K412T 1.000 pfam_MAP_tubulin-bd_rpt pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 54 0 0.00 61 21 25.61 MAP3K7 0 genome.wustl.edu 37 6 91266319 91266319 + Silent SNP T T A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 91266319 91266319 T A SNP MAP3K7 ENST00000369329 human ensembl 74_37 -1 known silent c.507 p.T169 0.995 pirsf_MAPKKK7,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_MAPKKK7,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 - no_errors MAP3K7 HGNC ENSG00000135341 tier1 - - 108 0 0.00 83 36 30.25 MGA 0 genome.wustl.edu 37 15 41988910 41988910 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 15 41988910 41988910 G T SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.1702 p.D568Y 0.001 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 tier1 - - 59 0 0.00 74 4 5.06 MIR200A 0 genome.wustl.edu 37 1 1103288 1103288 + RNA SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 1103288 1103288 C T SNP MIR200A ENST00000384875 human ensembl 74_37 +1 known rna NULL NULL 0.320 - - - no_errors MIR200A HGNC ENSG00000207607 tier1 - - 220 0 0.00 66 131 66.16 MIR495 0 genome.wustl.edu 37 14 101500143 101500143 + RNA SNP A A C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 14 101500143 101500143 A C SNP MIR495 ENST00000385010 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR495 HGNC ENSG00000207743 tier1 - - 30 0 0.00 16 19 54.29 MLEC 0 genome.wustl.edu 37 12 121125148 121125150 + In_Frame_Del DEL CTG CTG - TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 121125148 121125150 CTG - DEL MLEC ENST00000228506 human ensembl 74_37 +1 known in_frame_del c.49_51 p.L20in_frame_del 1.000:1.000:1.000 NULL pfam_Malectin - no_errors MLEC HGNC ENSG00000110917 tier1 26 0 0.00 25 4 13.79 MMP26 0 genome.wustl.edu 37 11 5010967 5010967 + Silent SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 5010967 5010967 G T SNP MMP26 ENST00000300762 human ensembl 74_37 +1 known silent c.189 p.R63 0.000 superfamily_Peptidoglycan-bd-like pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A - no_errors MMP26 HGNC ENSG00000167346 13 0 0.00 34 2 5.56 MNDA 0 genome.wustl.edu 37 1 158815572 158815572 + Silent SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 158815572 158815572 T C SNP MNDA ENST00000368141 human ensembl 74_37 +1 known silent c.766 p.L256 0.058 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 tier1 - - 66 0 0.00 72 24 25.00 MPP2 0 genome.wustl.edu 37 17 41981824 41981824 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 17 41981824 41981824 G A SNP MPP2 ENST00000461854 human ensembl 74_37 -1 known missense c.5 p.P2L 0.988 NULL pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP2 HGNC ENSG00000108852 tier1 - - 93 0 0.00 107 34 23.94 MRGPRX3 0 genome.wustl.edu 37 11 18159055 18159055 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 18159055 18159055 G T SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known missense c.306 p.M102I 0.025 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 tier1 - - 41 0 0.00 51 4 7.27 MRPL55 0 genome.wustl.edu 37 1 228294529 228294529 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 228294529 228294529 C T SNP MRPL55 ENST00000366731 human ensembl 74_37 -1 known missense c.427 p.E143K 0.000 pfam_Ribosomal_L55_mit pfam_Ribosomal_L55_mit - no_errors MRPL55 HGNC ENSG00000162910 tier1 - - 77 0 0.00 33 35 51.47 MRPS33 0 genome.wustl.edu 37 7 140710420 140710420 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 7 140710420 140710420 G A SNP MRPS33 ENST00000324787 human ensembl 74_37 -1 known missense c.14 p.S5L 1.000 NULL pfam_Ribosomal_S27/S33_mit - no_errors MRPS33 HGNC ENSG00000090263 tier1 - - 84 0 0.00 46 16 25.81 MUC16 0 genome.wustl.edu 37 19 9059054 9059054 + Silent SNP A A C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 9059054 9059054 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.28392 p.T9464 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 60 0 0.00 74 50 40.32 MUC5B 0 genome.wustl.edu 37 11 1270633 1270633 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 1270633 1270633 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.12532 p.R4178C 0.623 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 - - 209 0 0.00 24 118 83.10 MUC6 0 genome.wustl.edu 37 11 1016777 1016777 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 1016777 1016777 G T SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.6024 p.H2008Q 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 - - 745 0 0.00 527 38 6.54 MYCBP2 0 genome.wustl.edu 37 13 77663012 77663012 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 13 77663012 77663012 C A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.10680 p.M3560I 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 tier1 - - 39 0 0.00 28 3 9.68 MYH15 0 genome.wustl.edu 37 3 108127151 108127151 + Silent SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 108127151 108127151 G T SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known silent c.4656 p.V1552 0.625 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 tier1 - - 31 0 0.00 60 4 6.25 MYL3 0 genome.wustl.edu 37 3 46904847 46904847 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 46904847 46904847 C A SNP MYL3 ENST00000292327 human ensembl 74_37 -1 known missense c.34 p.D12Y 0.084 NULL pfscan_EF_hand_dom - no_errors MYL3 HGNC ENSG00000160808 tier1 - - 103 0 0.00 92 5 5.15 MYLK 0 genome.wustl.edu 37 3 123368043 123368044 + Splice_Site INS - - G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 123368043 123368044 0 G INS MYLK ENST00000360304 human ensembl 74_37 -1 known splice_site_ins c.4289-3_4289-2 e22-2 0.975:0.100 - - - no_errors MYLK HGNC ENSG00000065534 57 0 0.00 78 6 7.14 MYO18B 0 genome.wustl.edu 37 22 26231269 26231269 + Silent SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 22 26231269 26231269 T C SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known silent c.3067 p.L1023 0.003 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 - - 53 0 0.00 26 52 66.67 MYO1A 0 genome.wustl.edu 37 12 57432204 57432204 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 57432204 57432204 G T SNP MYO1A ENST00000300119 human ensembl 74_37 -1 known missense c.1752 p.N584K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 52 0 0.00 71 4 5.33 MYOC 0 genome.wustl.edu 37 1 171605844 171605844 + Nonsense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 171605844 171605844 C A SNP MYOC ENST00000037502 human ensembl 74_37 -1 known nonsense c.736 p.G246* 1.000 smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors MYOC HGNC ENSG00000034971 42 0 0.00 68 4 5.56 MYRF 0 genome.wustl.edu 37 11 61541595 61541595 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 61541595 61541595 G T SNP MYRF ENST00000278836 human ensembl 74_37 +1 known missense c.1272 p.K424N 1.000 pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 tier1 - - 76 0 0.00 54 4 6.90 N4BP1 0 genome.wustl.edu 37 16 48595560 48595560 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 16 48595560 48595560 C T SNP N4BP1 ENST00000262384 human ensembl 74_37 -1 known missense c.994 p.E332K 0.718 NULL pfam_RNase_Zc3h12 - no_errors N4BP1 HGNC ENSG00000102921 tier1 - - 21 0 0.00 21 12 36.36 NBPF1 0 genome.wustl.edu 37 1 16921146 16921146 + RNA SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 16921146 16921146 T C SNP NBPF1 ENST00000420513 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors NBPF1 HGNC ENSG00000219481 tier1 rs1759165 - 8 0 0.00 16 4 20.00 NCKAP5 0 genome.wustl.edu 37 2 133554203 133554203 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 133554203 133554203 G T SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.907 p.H303N 0.073 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 tier1 - - 32 0 0.00 46 4 8.00 NDUFA1 0 genome.wustl.edu 37 X 119005968 119005968 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 X 119005968 119005968 G T SNP NDUFA1 ENST00000371437 human ensembl 74_37 +1 known missense c.94 p.G32W 0.907 pirsf_NADH_Ub_cplx-1_asu_su-1 pirsf_NADH_Ub_cplx-1_asu_su-1 - no_errors NDUFA1 HGNC ENSG00000125356 tier1 - - 61 0 0.00 50 4 7.41 NEU2 0 genome.wustl.edu 37 2 233899463 233899463 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 233899463 233899463 C A SNP NEU2 ENST00000233840 human ensembl 74_37 +1 known missense c.839 p.P280H 0.996 superfamily_Sialidases superfamily_Sialidases - no_errors NEU2 HGNC ENSG00000115488 64 0 0.00 69 6 8.00 NFAT5 0 genome.wustl.edu 37 16 69727099 69727099 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 16 69727099 69727099 C T SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known missense c.3371 p.T1124I 0.989 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 tier1 - - 47 0 0.00 64 4 5.88 NLGN4X 0 genome.wustl.edu 37 X 6069501 6069501 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 X 6069501 6069501 G A SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.7 p.R3W 0.967 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 tier1 - - 34 0 0.00 13 38 74.51 NOS2 0 genome.wustl.edu 37 17 26093544 26093544 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 17 26093544 26093544 C T SNP NOS2 ENST00000313735 human ensembl 74_37 -1 known silent c.2238 p.P746 0.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 tier1 - - 75 0 0.00 67 30 30.93 NPFFR1 0 genome.wustl.edu 37 10 72020484 72020484 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 72020484 72020484 C T SNP NPFFR1 ENST00000277942 human ensembl 74_37 -1 novel missense c.334 p.D112N 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_1,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR1 HGNC ENSG00000148734 tier1 - - 35 0 0.00 23 8 25.81 NPHS1 0 genome.wustl.edu 37 19 36330497 36330497 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 36330497 36330497 G A SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known missense c.2828 p.P943L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-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 NPHS1 HGNC ENSG00000161270 tier1 - - 106 0 0.00 142 13 8.39 NRXN1 0 genome.wustl.edu 37 2 50149314 50149314 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 50149314 50149314 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.4268 p.T1423M 1.000 NULL 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 rs201871400 - 41 0 0.00 58 24 29.27 NSUN7 0 genome.wustl.edu 37 4 40809088 40809088 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 40809088 40809088 C A SNP NSUN7 ENST00000381782 human ensembl 74_37 +1 known missense c.1411 p.P471T 1.000 NULL pfam_Fmu/NOL1/Nop2p - no_errors NSUN7 HGNC ENSG00000179299 41 0 0.00 64 4 5.88 NTSR2 0 genome.wustl.edu 37 2 11810004 11810006 + In_Frame_Del DEL CAG CAG - TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 11810004 11810006 CAG - DEL NTSR2 ENST00000306928 human ensembl 74_37 -1 known in_frame_del c.252_250 p.L84in_frame_del 0.976:0.984:0.971 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NT2_rcpt,prints_NT_rcpt,prints_GPCR_Rhodpsn - no_errors NTSR2 HGNC ENSG00000169006 tier1 42 0 0.00 40 4 9.09 OCA2 0 genome.wustl.edu 37 15 28234767 28234767 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 15 28234767 28234767 G T SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.1162 p.L388M 0.983 pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 tier1 - - 60 0 0.00 54 4 6.90 OGFOD3 0 genome.wustl.edu 37 17 80361875 80361875 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 17 80361875 80361875 G A SNP OGFOD3 ENST00000329197 human ensembl 74_37 -1 known missense c.637 p.R213C 0.992 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors OGFOD3 HGNC ENSG00000181396 tier1 - - 65 0 0.00 50 16 24.24 OMD 0 genome.wustl.edu 37 9 95177560 95177560 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 9 95177560 95177560 G T SNP OMD ENST00000375550 human ensembl 74_37 -1 known missense c.1140 p.F380L 0.916 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors OMD HGNC ENSG00000127083 tier1 - - 48 0 0.00 76 4 5.00 OR10K2 0 genome.wustl.edu 37 1 158390251 158390251 + Frame_Shift_Del DEL T T - TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 158390251 158390251 T - DEL OR10K2 ENST00000314902 human ensembl 74_37 -1 known frame_shift_del c.406 p.M136fs 0.981 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K2 HGNC ENSG00000180708 tier1 26 0 0.00 38 2 5.00 OR4A5 0 genome.wustl.edu 37 11 51411994 51411994 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 51411994 51411994 C A SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known missense c.402 p.M134I 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 33 0 0.00 42 3 6.67 OR4C11 0 genome.wustl.edu 37 11 55371506 55371506 + Missense_Mutation SNP A A G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 55371506 55371506 A G SNP OR4C11 ENST00000302231 human ensembl 74_37 -1 known missense c.344 p.L115P 0.867 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C11 HGNC ENSG00000172188 tier1 - - 25 0 0.00 22 16 42.11 OR51I1 0 genome.wustl.edu 37 11 5462646 5462646 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 5462646 5462646 G T SNP OR51I1 ENST00000380211 human ensembl 74_37 -1 known missense c.99 p.F33L 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I1 HGNC ENSG00000167359 20 0 0.00 34 2 5.56 OR52A5 0 genome.wustl.edu 37 11 5153446 5153446 + Silent SNP A A G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 5153446 5153446 A G SNP OR52A5 ENST00000307388 human ensembl 74_37 -1 known silent c.427 p.L143 0.000 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 OR52A5 HGNC ENSG00000171944 tier1 - - 58 0 0.00 19 81 81.00 OR52E2 0 genome.wustl.edu 37 11 5080587 5080587 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 5080587 5080587 G T SNP OR52E2 ENST00000321522 human ensembl 74_37 -1 known missense c.271 p.L91I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E2 HGNC ENSG00000176787 32 0 0.00 32 3 8.57 OR5A2 0 genome.wustl.edu 37 11 59189513 59189513 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 59189513 59189513 G T SNP OR5A2 ENST00000302040 human ensembl 74_37 -1 known missense c.914 p.A305D 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5A2 HGNC ENSG00000172324 tier1 - - 50 0 0.00 51 5 8.93 OR8H3 0 genome.wustl.edu 37 11 55890377 55890377 + Missense_Mutation SNP T T A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 55890377 55890377 T A SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known missense c.529 p.F177I 0.995 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 tier1 - - 23 0 0.00 6 24 80.00 ORMDL3 0 genome.wustl.edu 37 17 38080379 38080379 + Silent SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 17 38080379 38080379 G A SNP ORMDL3 ENST00000304046 human ensembl 74_37 -1 known silent c.78 p.Y26 0.997 pfam_ORMDL,pirsf_ORMDL pfam_ORMDL,pirsf_ORMDL - no_errors ORMDL3 HGNC ENSG00000172057 tier1 - - 64 0 0.00 54 25 31.65 OTOGL 0 genome.wustl.edu 37 12 80645477 80645477 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 80645477 80645477 G T SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known missense c.1030 p.D344Y 1.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 35 0 0.00 45 4 8.00 OXNAD1 0 genome.wustl.edu 37 3 16327858 16327858 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 16327858 16327858 G T SNP OXNAD1 ENST00000544043 human ensembl 74_37 +1 known missense c.247 p.A83S 0.001 superfamily_Riboflavin_synthase-like_b-brl pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6,superfamily_Riboflavin_synthase-like_b-brl,prints_Phe_hydroxylase,prints_NADH-Cyt_B5_reductase - no_errors OXNAD1 HGNC ENSG00000154814 34 0 0.00 36 2 5.26 P2RX1 0 genome.wustl.edu 37 17 3807317 3807317 + Silent SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 17 3807317 3807317 G T SNP P2RX1 ENST00000225538 human ensembl 74_37 -1 known silent c.429 p.G143 0.995 pfam_P2X_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X1_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX1 HGNC ENSG00000108405 tier1 - - 57 0 0.00 41 5 10.87 PALD1 0 genome.wustl.edu 37 10 72298676 72298676 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 72298676 72298676 C T SNP PALD1 ENST00000263563 human ensembl 74_37 +1 known missense c.1481 p.A494V 0.989 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 tier1 rs141292267 - 64 0 0.00 49 10 16.95 PCDH10 0 genome.wustl.edu 37 4 134073782 134073782 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 134073782 134073782 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.2487 p.S829 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 tier1 - - 88 0 0.00 32 20 38.46 PCDH10 0 genome.wustl.edu 37 4 134073920 134073920 + Silent SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 134073920 134073920 C A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.2625 p.S875 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 69 0 0.00 28 2 6.67 PCDH15 0 genome.wustl.edu 37 10 56423985 56423985 + Nonsense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 56423985 56423985 G T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known nonsense c.38 p.S13* 0.002 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 43 0 0.00 29 4 12.12 PCDHB16 0 genome.wustl.edu 37 5 140562945 140562945 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 5 140562945 140562945 G A SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.811 p.G271S 0.157 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 tier1 - - 68 0 0.00 9 60 86.96 PCDHGA2 0 genome.wustl.edu 37 5 140720764 140720764 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 5 140720764 140720764 C T SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known silent c.2226 p.G742 0.111 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 tier1 - - 203 0 0.00 126 19 13.10 PCDHGA8 0 genome.wustl.edu 37 5 140773787 140773787 + Silent SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 5 140773787 140773787 C A SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known silent c.1407 p.A469 0.801 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 tier1 - - 112 0 0.00 52 34 39.53 PCDHGB4 0 genome.wustl.edu 37 5 140768647 140768647 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 5 140768647 140768647 C T SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known missense c.1196 p.T399M 0.000 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 PCDHGB4 HGNC ENSG00000253953 tier1 - - 87 0 0.00 38 23 37.70 PCED1B 0 genome.wustl.edu 37 12 47630009 47630009 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 47630009 47630009 G A SNP PCED1B ENST00000432328 human ensembl 74_37 +1 known missense c.1163 p.R388H 0.000 NULL NULL - no_errors PCED1B HGNC ENSG00000179715 tier1 - - 54 0 0.00 21 8 26.67 PCSK1 0 genome.wustl.edu 37 5 95757621 95757621 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 5 95757621 95757621 C A SNP PCSK1 ENST00000311106 human ensembl 74_37 -1 known missense c.583 p.D195Y 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 34 0 0.00 55 3 5.08 PCYOX1L 0 genome.wustl.edu 37 5 148745521 148745521 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 5 148745521 148745521 G T SNP PCYOX1L ENST00000274569 human ensembl 74_37 +1 known missense c.487 p.A163S 1.000 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1L HGNC ENSG00000145882 tier1 - - 57 0 0.00 74 4 5.13 PDE6C 0 genome.wustl.edu 37 10 95418860 95418860 + Splice_Site SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 95418860 95418860 G T SNP PDE6C ENST00000371447 human ensembl 74_37 +1 known splice_site c.2145-1 e18-1 1.000 - - - no_errors PDE6C HGNC ENSG00000095464 65 0 0.00 68 4 5.56 PDK2 0 genome.wustl.edu 37 17 48184157 48184157 + Splice_Site SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 17 48184157 48184157 G T SNP PDK2 ENST00000503176 human ensembl 74_37 +1 known splice_site c.518-1 e5-1 1.000 - - - no_errors PDK2 HGNC ENSG00000005882 28 0 0.00 38 4 9.52 PEAR1 0 genome.wustl.edu 37 1 156884559 156884559 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 156884559 156884559 C T SNP PEAR1 ENST00000292357 human ensembl 74_37 +1 known missense c.3083 p.P1028L 0.990 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC ENSG00000187800 tier1 - - 99 0 0.00 132 12 8.33 PET117 0 genome.wustl.edu 37 20 18122859 18122859 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 20 18122859 18122859 G T SNP PET117 ENST00000432901 human ensembl 74_37 +1 known missense c.104 p.R35L 0.888 NULL NULL - no_errors PET117 HGNC ENSG00000232838 tier1 - - 75 0 0.00 101 6 5.61 PEX3 0 genome.wustl.edu 37 6 143780297 143780297 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 143780297 143780297 C T SNP PEX3 ENST00000367591 human ensembl 74_37 +1 known missense c.149 p.A50V 1.000 pfam_Peroxin-3 pfam_Peroxin-3 - no_errors PEX3 HGNC ENSG00000034693 41 0 0.00 57 4 6.56 PGBD1 0 genome.wustl.edu 37 6 28269344 28269344 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 28269344 28269344 G T SNP PGBD1 ENST00000259883 human ensembl 74_37 +1 known missense c.1713 p.W571C 1.000 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 tier1 - - 29 0 0.00 55 4 6.78 PGBD2 0 genome.wustl.edu 37 1 249212492 249212492 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 249212492 249212492 C A SNP PGBD2 ENST00000329291 human ensembl 74_37 +1 known missense c.1709 p.T570N 0.939 NULL NULL - no_errors PGBD2 HGNC ENSG00000185220 tier1 - - 36 0 0.00 62 4 6.06 PGBD5 0 genome.wustl.edu 37 1 230472966 230472966 + Silent SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 230472966 230472966 G T SNP PGBD5 ENST00000321327 human ensembl 74_37 -1 known silent c.1053 p.L351 0.435 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 tier1 - - 78 0 0.00 111 6 5.13 PHC1 0 genome.wustl.edu 37 12 9085324 9085324 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 9085324 9085324 C T SNP PHC1 ENST00000543824 human ensembl 74_37 +1 known missense c.1271 p.A424V 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC1 HGNC ENSG00000111752 tier1 - - 97 0 0.00 66 24 26.67 PHLDB2 0 genome.wustl.edu 37 3 111632384 111632384 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 111632384 111632384 C T SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known silent c.1554 p.D518 0.046 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 tier1 - - 26 0 0.00 29 6 17.14 PIK3CB 0 genome.wustl.edu 37 3 138452210 138452210 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 138452210 138452210 G A SNP PIK3CB ENST00000289153 human ensembl 74_37 -1 known missense c.1043 p.T348I 1.000 superfamily_C2_dom,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,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 PIK3CB HGNC ENSG00000051382 tier1 - - 102 0 0.00 106 28 20.74 PIK3R2 0 genome.wustl.edu 37 19 18271374 18271374 + Splice_Site SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 18271374 18271374 G T SNP PIK3R2 ENST00000222254 human ensembl 74_37 +1 known splice_site c.415+1 e2+1 1.000 - - - no_errors PIK3R2 HGNC ENSG00000105647 85 0 0.00 52 3 5.45 PKD1L3 0 genome.wustl.edu 37 16 71986875 71986875 + RNA SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 16 71986875 71986875 G T SNP PKD1L3 ENST00000335106 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PKD1L3 HGNC ENSG00000187008 tier1 - - 29 0 0.00 51 4 7.27 PKHD1L1 0 genome.wustl.edu 37 8 110527510 110527510 + Nonsense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 8 110527510 110527510 G T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known nonsense c.11665 p.E3889* 0.643 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 40 0 0.00 56 3 5.08 PLCL1 0 genome.wustl.edu 37 2 198950711 198950711 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 198950711 198950711 C T SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.2470 p.R824W 1.000 superfamily_C2_dom,smart_C2_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 tier1 - - 54 0 0.00 78 24 23.53 PLSCR2 0 genome.wustl.edu 37 3 146171805 146171805 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 146171805 146171805 G T SNP PLSCR2 ENST00000336685 human ensembl 74_37 -1 known missense c.467 p.A156E 0.000 pfam_Scramblase,superfamily_Tubby_C-like pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR2 HGNC ENSG00000163746 44 0 0.00 55 3 5.17 PNLIPRP2 0 genome.wustl.edu 37 10 118404628 118404628 + RNA SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 118404628 118404628 C T SNP PNLIPRP2 ENST00000298771 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PNLIPRP2 HGNC ENSG00000165862 tier1 - - 37 0 0.00 64 4 5.88 PNPLA1 0 genome.wustl.edu 37 6 36270166 36270166 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 36270166 36270166 C A SNP PNPLA1 ENST00000457797 human ensembl 74_37 +1 known missense c.1307 p.P436H 0.000 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA1 HGNC ENSG00000180316 42 0 0.00 56 4 6.67 PNPLA6 0 genome.wustl.edu 37 19 7620583 7620583 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 7620583 7620583 C T SNP PNPLA6 ENST00000414982 human ensembl 74_37 +1 known silent c.3057 p.I1019 0.197 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 tier1 - - 71 0 0.00 35 16 31.37 POGK 0 genome.wustl.edu 37 1 166818561 166818561 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 166818561 166818561 C T SNP POGK ENST00000367875 human ensembl 74_37 +1 known missense c.745 p.R249W 0.922 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors POGK HGNC ENSG00000143157 tier1 - - 49 0 0.00 66 21 24.14 POM121L2 0 genome.wustl.edu 37 6 27278524 27278524 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 27278524 27278524 G A SNP POM121L2 ENST00000444565 human ensembl 74_37 -1 known missense c.1426 p.P476S 0.000 NULL NULL - no_errors POM121L2 HGNC ENSG00000158553 tier1 - - 81 0 0.00 64 48 42.48 POMC 0 genome.wustl.edu 37 2 25384477 25384477 + Missense_Mutation SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 25384477 25384477 T C SNP POMC ENST00000264708 human ensembl 74_37 -1 known missense c.277 p.S93G 1.000 NULL pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC ENSG00000115138 18 0 0.00 23 4 14.81 POMT2 0 genome.wustl.edu 37 14 77772637 77772637 + RNA SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 14 77772637 77772637 G T SNP POMT2 ENST00000555788 human ensembl 74_37 -1 known rna NULL NULL 0.136 - - - no_errors POMT2 HGNC ENSG00000009830 tier1 - - 44 0 0.00 60 4 6.15 POMZP3 0 genome.wustl.edu 37 7 76240786 76240786 + Missense_Mutation SNP A A C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 7 76240786 76240786 A C SNP POMZP3 ENST00000310842 human ensembl 74_37 -1 known missense c.560 p.L187R 0.466 NULL pfam_ZP_dom - no_errors POMZP3 HGNC ENSG00000146707 29 0 0.00 66 6 5.88 POT1 0 genome.wustl.edu 37 7 124503562 124503562 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 7 124503562 124503562 G T SNP POT1 ENST00000357628 human ensembl 74_37 -1 known missense c.388 p.H130N 0.600 pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 - no_errors POT1 HGNC ENSG00000128513 tier1 - - 32 0 0.00 47 4 7.84 POTEC 0 genome.wustl.edu 37 18 14534903 14534903 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 18 14534903 14534903 C T SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.914 p.G305E 0.193 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 POTEC HGNC ENSG00000183206 tier1 - - 259 0 0.00 196 35 15.15 POTEH 0 genome.wustl.edu 37 22 16279269 16279269 + Missense_Mutation SNP A A T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 22 16279269 16279269 A T SNP POTEH ENST00000343518 human ensembl 74_37 -1 known missense c.954 p.H318Q 0.022 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 POTEH HGNC ENSG00000198062 tier1 - - 487 0 0.00 701 65 8.46 PRAMEF1 0 genome.wustl.edu 37 1 12855855 12855855 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 12855855 12855855 C A SNP PRAMEF1 ENST00000332296 human ensembl 74_37 +1 known missense c.1135 p.L379I 0.329 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 tier1 - - 133 0 0.00 123 108 46.75 PRDM15 0 genome.wustl.edu 37 21 43220665 43220666 + RNA DEL AA AA - TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 21 43220665 43220666 AA - DEL PRDM15 ENST00000470586 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.001 - - - no_errors PRDM15 HGNC ENSG00000141956 tier1 45 0 0.00 22 2 8.33 PRR23B 0 genome.wustl.edu 37 3 138739030 138739030 + Silent SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 138739030 138739030 G A SNP PRR23B ENST00000329447 human ensembl 74_37 -1 known silent c.474 p.D158 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC ENSG00000184814 tier1 - - 163 0 0.00 121 59 32.78 PRR23C 0 genome.wustl.edu 37 3 138762947 138762947 + Silent SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 138762947 138762947 G A SNP PRR23C ENST00000413199 human ensembl 74_37 -1 known silent c.516 p.A172 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23C HGNC ENSG00000233701 tier1 - - 113 0 0.00 65 85 56.67 PRRC2A 0 genome.wustl.edu 37 6 31595606 31595606 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 31595606 31595606 G A SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.1355 p.R452Q 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 tier1 - - 103 0 0.00 118 19 13.77 PSG1 0 genome.wustl.edu 37 19 43372351 43372351 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 43372351 43372351 C A SNP PSG1 ENST00000312439 human ensembl 74_37 -1 known missense c.1145 p.R382L 0.003 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG1 HGNC ENSG00000231924 tier1 - - 175 0 0.00 306 99 24.32 PSG11 0 genome.wustl.edu 37 19 43522939 43522939 + Frame_Shift_Del DEL A A - TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 43522939 43522939 A - DEL PSG11 ENST00000320078 human ensembl 74_37 -1 known frame_shift_del c.692 p.V231fs 0.007 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG11 HGNC ENSG00000243130 tier1 170 0 0.00 307 70 18.57 PSG3 0 genome.wustl.edu 37 19 43234055 43234055 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 43234055 43234055 C T SNP PSG3 ENST00000327495 human ensembl 74_37 -1 known missense c.863 p.R288Q 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 tier1 - - 174 0 0.00 362 115 24.11 PTPN14 0 genome.wustl.edu 37 1 214625231 214625231 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 214625231 214625231 G T SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known missense c.261 p.D87E 1.000 pfam_FERM_N,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,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 PTPN14 HGNC ENSG00000152104 tier1 - - 38 0 0.00 49 48 49.48 PTPRJ 0 genome.wustl.edu 37 11 48146607 48146607 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 48146607 48146607 C A SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.962 p.S321Y 0.000 smart_Fibronectin_type3 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 49 0 0.00 53 4 7.02 PTPRK 0 genome.wustl.edu 37 6 128304446 128304446 + Missense_Mutation SNP C C G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 128304446 128304446 C G SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known missense c.3379 p.D1127H 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 tier1 - - 38 0 0.00 47 9 15.79 PTPRN2 0 genome.wustl.edu 37 7 157985175 157985175 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 7 157985175 157985175 G T SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.462 p.H154Q 0.006 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 tier1 - - 101 0 0.00 36 4 10.00 PYGO1 0 genome.wustl.edu 37 15 55838889 55838889 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 15 55838889 55838889 G T SNP PYGO1 ENST00000302000 human ensembl 74_37 -1 known missense c.592 p.P198T 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO1 HGNC ENSG00000171016 tier1 - - 51 0 0.00 43 25 36.76 RAD54L 0 genome.wustl.edu 37 1 46738139 46738139 + Missense_Mutation SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 46738139 46738139 T C SNP RAD54L ENST00000371975 human ensembl 74_37 +1 known missense c.1171 p.C391R 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L HGNC ENSG00000085999 tier1 - - 34 0 0.00 72 5 6.49 RAPGEF4 0 genome.wustl.edu 37 2 173894894 173894894 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 173894894 173894894 G T SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known missense c.2561 p.C854F 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 tier1 - - 37 0 0.00 72 4 5.26 RASGRF2 0 genome.wustl.edu 37 5 80419466 80419466 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 5 80419466 80419466 C A SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known missense c.2476 p.L826I 0.882 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N 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 RASGRF2 HGNC ENSG00000113319 tier1 - - 59 0 0.00 69 5 6.76 RASL10B 0 genome.wustl.edu 37 17 34062293 34062293 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 17 34062293 34062293 C T SNP RASL10B ENST00000268864 human ensembl 74_37 +1 known silent c.90 p.S30 1.000 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RASL10B HGNC ENSG00000141150 tier1 - - 76 0 0.00 61 32 34.41 RAVER1 0 genome.wustl.edu 37 19 10428164 10428164 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 10428164 10428164 G A SNP RAVER1 ENST00000293677 human ensembl 74_37 -1 known missense c.2237 p.A746V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER1 HGNC ENSG00000161847 tier1 - - 123 0 0.00 73 49 39.84 RBMXL3 0 genome.wustl.edu 37 X 114424944 114424944 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 X 114424944 114424944 G T SNP RBMXL3 ENST00000424776 human ensembl 74_37 +1 known missense c.940 p.A314S 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 84 0 0.00 70 4 5.41 RRP8 0 genome.wustl.edu 37 11 6623228 6623228 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 6623228 6623228 G T SNP RRP8 ENST00000254605 human ensembl 74_37 -1 known missense c.317 p.S106Y 0.839 NULL pfam_Methyltransferase-rel,pfam_Methyltransf_11 - no_errors RRP8 HGNC ENSG00000132275 tier1 - - 68 0 0.00 63 4 5.97 RSPH10B 0 genome.wustl.edu 37 7 5997557 5997557 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 7 5997557 5997557 C T SNP RSPH10B ENST00000337579 human ensembl 74_37 -1 known missense c.761 p.R254Q 1.000 pfam_MORN,smart_MORN pfam_MORN,smart_MORN - no_errors RSPH10B HGNC ENSG00000155026 tier1 - - 40 0 0.00 44 6 12.00 RTKN2 0 genome.wustl.edu 37 10 63983041 63983041 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 63983041 63983041 G T SNP RTKN2 ENST00000373789 human ensembl 74_37 -1 known missense c.737 p.A246D 0.997 NULL pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC ENSG00000182010 tier1 - - 41 0 0.00 66 4 5.71 SARM1 0 genome.wustl.edu 37 17 26723195 26723195 + Nonsense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 17 26723195 26723195 G T SNP SARM1 ENST00000457710 human ensembl 74_37 +1 novel nonsense c.1963 p.E655* 1.000 smart_TIR_dom pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM - no_errors SARM1 HGNC ENSG00000004139 49 0 0.00 54 3 5.26 SCARB1 0 genome.wustl.edu 37 12 125348162 125348162 + Silent SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 125348162 125348162 G T SNP SCARB1 ENST00000415380 human ensembl 74_37 -1 known silent c.105 p.L35 0.988 pfam_CD36 pfam_CD36,prints_CD36,prints_CD36_antigen - no_errors SCARB1 HGNC ENSG00000073060 tier1 - - 111 0 0.00 71 4 5.33 SCYL1 0 genome.wustl.edu 37 11 65299049 65299049 + Silent SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 65299049 65299049 G T SNP SCYL1 ENST00000270176 human ensembl 74_37 +1 known silent c.1011 p.V337 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors SCYL1 HGNC ENSG00000142186 tier1 - - 76 0 0.00 72 4 5.19 SEMA6D 0 genome.wustl.edu 37 15 48063590 48063590 + Nonsense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 15 48063590 48063590 C T SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known nonsense c.2830 p.R944* 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 tier1 - - 27 0 0.00 9 6 40.00 SERPINE2 0 genome.wustl.edu 37 2 224849554 224849554 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 224849554 224849554 C A SNP SERPINE2 ENST00000258405 human ensembl 74_37 -1 known missense c.799 p.A267S 0.992 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE2 HGNC ENSG00000135919 tier1 - - 43 0 0.00 46 56 54.37 SETD5 0 genome.wustl.edu 37 3 9512170 9512170 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 9512170 9512170 G A SNP SETD5 ENST00000402198 human ensembl 74_37 +1 known missense c.2752 p.A918T 0.997 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 49 0 0.00 58 4 6.45 SF1 0 genome.wustl.edu 37 11 64534503 64534505 + In_Frame_Del DEL GGC GGC - TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 64534503 64534505 GGC - DEL SF1 ENST00000377390 human ensembl 74_37 -1 known in_frame_del c.1451_1449 p.P485in_frame_del 1.000:1.000:0.998 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 tier1 27 0 0.00 23 2 8.00 SF3A3 0 genome.wustl.edu 37 1 38442611 38442611 + Missense_Mutation SNP T T G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 38442611 38442611 T G SNP SF3A3 ENST00000373019 human ensembl 74_37 -1 known missense c.950 p.N317T 1.000 NULL pfam_DUF3449,pfam_SF3a60_bindingd,pfscan_Znf_C2H2_matrin - no_errors SF3A3 HGNC ENSG00000183431 tier1 - - 50 0 0.00 92 7 7.07 SFRP2 0 genome.wustl.edu 37 4 154702638 154702638 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 154702638 154702638 G A SNP SFRP2 ENST00000274063 human ensembl 74_37 -1 known missense c.853 p.R285C 1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP2 HGNC ENSG00000145423 tier1 - - 36 0 0.00 36 18 32.73 SGK1 0 genome.wustl.edu 37 6 134583168 134583168 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 134583168 134583168 G T SNP SGK1 ENST00000367858 human ensembl 74_37 -1 known missense c.188 p.S63Y 0.284 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors SGK1 HGNC ENSG00000118515 45 0 0.00 59 4 6.35 SGSM1 0 genome.wustl.edu 37 22 25243762 25243762 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 22 25243762 25243762 G T SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known missense c.301 p.A101S 0.737 pfam_Run,pfscan_Run 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 SGSM1 HGNC ENSG00000167037 tier1 - - 112 0 0.00 96 23 19.33 SH3GL2 0 genome.wustl.edu 37 9 17747117 17747117 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 9 17747117 17747117 C T SNP SH3GL2 ENST00000380607 human ensembl 74_37 +1 known silent c.99 p.F33 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,pfam_BAR_dom-cont,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3GL2 HGNC ENSG00000107295 tier1 - - 93 0 0.00 71 41 36.61 SH3RF1 0 genome.wustl.edu 37 4 170057668 170057668 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 170057668 170057668 G T SNP SH3RF1 ENST00000284637 human ensembl 74_37 -1 known missense c.869 p.P290Q 0.999 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC ENSG00000154447 tier1 - - 48 0 0.00 63 4 5.97 SHANK2 0 genome.wustl.edu 37 11 70666754 70666754 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 70666754 70666754 C T SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.1211 p.R404H 0.999 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 21 0 0.00 12 4 25.00 SHANK3 0 genome.wustl.edu 37 22 51159738 51159738 + Silent SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 22 51159738 51159738 G A SNP SHANK3 ENST00000262795 human ensembl 74_37 +1 known silent c.3525 p.P1175 0.975 NULL pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 tier1 - - 88 0 0.00 62 35 36.08 SIK1 0 genome.wustl.edu 37 21 44837639 44837639 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 21 44837639 44837639 C T SNP SIK1 ENST00000270162 human ensembl 74_37 -1 known missense c.1760 p.R587Q 1.000 pirsf_Ser/Thr_kinase_SIK1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK1 HGNC ENSG00000142178 tier1 - - 187 0 0.00 73 43 37.07 SIRT1 0 genome.wustl.edu 37 10 69666016 69666016 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 69666016 69666016 G T SNP SIRT1 ENST00000403579 human ensembl 74_37 +1 novel missense c.5 p.C2F 1.000 pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC ENSG00000096717 tier1 - - 59 0 0.00 64 4 5.88 SLC22A12 0 genome.wustl.edu 37 11 64359294 64359294 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 64359294 64359294 G T SNP SLC22A12 ENST00000377574 human ensembl 74_37 +1 known missense c.266 p.R89L 0.779 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC ENSG00000197891 99 0 0.00 71 4 5.33 SLC22A4 0 genome.wustl.edu 37 5 131663064 131663064 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 5 131663064 131663064 G T SNP SLC22A4 ENST00000200652 human ensembl 74_37 +1 known missense c.919 p.A307S 0.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A4 HGNC ENSG00000197208 tier1 - - 58 0 0.00 76 4 5.00 SLC23A1 0 genome.wustl.edu 37 5 138717693 138717693 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 5 138717693 138717693 G T SNP SLC23A1 ENST00000353963 human ensembl 74_37 -1 known missense c.196 p.L66M 1.000 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A1 HGNC ENSG00000170482 59 0 0.00 52 3 5.45 SLC9A3 0 genome.wustl.edu 37 5 475247 475247 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 5 475247 475247 C A SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known missense c.2252 p.G751V 1.000 NULL pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 tier1 - - 24 0 0.00 21 4 16.00 SLC9A4 0 genome.wustl.edu 37 2 103121712 103121712 + Splice_Site SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 103121712 103121712 G T SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known splice_site c.981-1 e4-1 0.999 - - - no_errors SLC9A4 HGNC ENSG00000180251 22 0 0.00 32 2 5.88 SLCO1B3 0 genome.wustl.edu 37 12 21014003 21014003 + Missense_Mutation SNP A A C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 21014003 21014003 A C SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.412 p.S138R 0.001 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 - - 108 0 0.00 117 48 29.09 SLITRK5 0 genome.wustl.edu 37 13 88329844 88329844 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 13 88329844 88329844 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.2201 p.R734H 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 tier1 - - 41 0 0.00 31 11 26.19 SMARCC2 0 genome.wustl.edu 37 12 56559127 56559128 + Frame_Shift_Ins INS - - G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 56559127 56559128 0 G INS SMARCC2 ENST00000267064 human ensembl 74_37 -1 known frame_shift_ins c.3114_3113 p.G1039fs 1.000:1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 143 0 0.00 140 8 5.41 SMOC2 0 genome.wustl.edu 37 6 169053815 169053815 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 169053815 169053815 G A SNP SMOC2 ENST00000354536 human ensembl 74_37 +1 known missense c.1225 p.V409M 0.998 pfam_SPARC/Testican_Ca-bd-dom,pfscan_EF_hand_dom pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 tier1 - - 112 0 0.00 81 37 31.36 SNHG14 0 genome.wustl.edu 37 15 25330419 25330419 + RNA SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 15 25330419 25330419 T C SNP SNHG14 ENST00000546682 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 91 0 0.00 87 34 28.10 SNORD109A 0 genome.wustl.edu 37 15 25287217 25287217 + RNA SNP A A C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 15 25287217 25287217 A C SNP SNORD109A ENST00000604135 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors SNORD109A HGNC ENSG00000270246 tier1 - - 47 0 0.00 40 27 40.30 SNTG1 0 genome.wustl.edu 37 8 51449339 51449339 + Silent SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 8 51449339 51449339 T C SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known silent c.651 p.S217 0.998 smart_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 tier1 - - 15 0 0.00 16 5 23.81 SNX6 0 genome.wustl.edu 37 14 35032375 35032375 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 14 35032375 35032375 G T SNP SNX6 ENST00000362031 human ensembl 74_37 -1 known missense c.1210 p.L404I 1.000 pfam_Vps5_C,pfam_BAR_dom,pirsf_Snx5_Snx6 pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX6 HGNC ENSG00000129515 tier1 - - 50 0 0.00 50 4 7.41 SOGA3 0 genome.wustl.edu 37 6 127836128 127836128 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 127836128 127836128 G T SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.1166 p.A389D 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 tier1 - - 70 0 0.00 37 4 9.76 SON 0 genome.wustl.edu 37 21 34932343 34932343 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 21 34932343 34932343 G T SNP SON ENST00000300278 human ensembl 74_37 +1 known missense c.6818 p.G2273V 1.000 NULL superfamily_WD40_repeat_dom - no_errors SON HGNC ENSG00000159140 tier1 - - 58 0 0.00 58 4 6.45 SORL1 0 genome.wustl.edu 37 11 121458833 121458833 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 121458833 121458833 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.3919 p.D1307N 0.996 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt 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 26 0 0.00 28 3 9.68 SPINT1 0 genome.wustl.edu 37 15 41148489 41148489 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 15 41148489 41148489 G A SNP SPINT1 ENST00000344051 human ensembl 74_37 +1 known missense c.1352 p.G451D 0.972 NULL pfam_Prot_inh_Kunz-m,pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_Prot_inh_Kunz-m,superfamily_LDrepeatLR_classA_rpt,superfamily_PKD_dom,smart_MANSC_N,smart_Prot_inh_Kunz-m,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors SPINT1 HGNC ENSG00000166145 36 0 0.00 38 2 5.00 SPRY4 0 genome.wustl.edu 37 5 141694439 141694439 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 5 141694439 141694439 C T SNP SPRY4 ENST00000344120 human ensembl 74_37 -1 known missense c.304 p.A102T 0.099 NULL pfam_Sprouty - no_errors SPRY4 HGNC ENSG00000187678 61 0 0.00 48 3 5.88 SPTA1 0 genome.wustl.edu 37 1 158637762 158637762 + Missense_Mutation SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 158637762 158637762 T C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.1924 p.K642E 1.000 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 - - 36 0 0.00 28 13 31.71 SRCAP 0 genome.wustl.edu 37 16 30736370 30736371 + Frame_Shift_Ins INS - - C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 16 30736370 30736371 0 C INS SRCAP ENST00000262518 human ensembl 74_37 +1 known frame_shift_ins c.5625_5626 p.P1878fs 1.000:1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 60 0 0.00 149 8 5.10 SRSF6 0 genome.wustl.edu 37 20 42088794 42088794 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 20 42088794 42088794 G A SNP SRSF6 ENST00000244020 human ensembl 74_37 +1 known missense c.503 p.G168D 1.000 pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF6 HGNC ENSG00000124193 74 0 0.00 87 5 5.43 STAU2 0 genome.wustl.edu 37 8 74621378 74621378 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 8 74621378 74621378 C A SNP STAU2 ENST00000524300 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU2 HGNC ENSG00000040341 tier1 - - 33 0 0.00 42 4 8.70 STK33 0 genome.wustl.edu 37 11 8478953 8478953 + Nonsense_Mutation SNP G G C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 8478953 8478953 G C SNP STK33 ENST00000315204 human ensembl 74_37 -1 known nonsense c.632 p.S211* 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 STK33 HGNC ENSG00000130413 tier1 - - 48 0 0.00 13 50 79.37 STRBP 0 genome.wustl.edu 37 9 125898332 125898332 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 9 125898332 125898332 C A SNP STRBP ENST00000348403 human ensembl 74_37 -1 known missense c.1761 p.K587N 1.000 NULL pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STRBP HGNC ENSG00000165209 tier1 - - 39 0 0.00 68 5 6.76 SUPT20H 0 genome.wustl.edu 37 13 37595648 37595648 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 13 37595648 37595648 G T SNP SUPT20H ENST00000350612 human ensembl 74_37 -1 known missense c.1753 p.L585I 1.000 NULL pfam_Spt20 - no_errors SUPT20H HGNC ENSG00000102710 23 0 0.00 33 2 5.71 TADA2B 0 genome.wustl.edu 37 4 7056185 7056185 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 7056185 7056185 G T SNP TADA2B ENST00000310074 human ensembl 74_37 +1 known missense c.667 p.A223S 1.000 pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 tier1 - - 84 0 0.00 52 24 31.58 TBC1D13 0 genome.wustl.edu 37 9 131565639 131565639 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 9 131565639 131565639 C T SNP TBC1D13 ENST00000372648 human ensembl 74_37 +1 known silent c.654 p.Y218 0.361 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,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D13 HGNC ENSG00000107021 tier1 - - 129 0 0.00 22 90 80.36 TBXA2R 0 genome.wustl.edu 37 19 3595872 3595872 + Missense_Mutation SNP C C G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 3595872 3595872 C G SNP TBXA2R ENST00000589966 human ensembl 74_37 -1 putative missense c.457 p.V153L 0.964 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt - no_errors TBXA2R HGNC ENSG00000006638 tier1 - - 96 0 0.00 93 7 7.00 TENM3 0 genome.wustl.edu 37 4 183600932 183600932 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 183600932 183600932 C T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known silent c.1440 p.A480 0.763 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 tier1 - - 46 0 0.00 36 29 44.62 TIAM2 0 genome.wustl.edu 37 6 155486490 155486490 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 155486490 155486490 G T SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.2308 p.G770W 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,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 TIAM2 HGNC ENSG00000146426 tier1 - - 64 0 0.00 82 5 5.75 TIAM2 0 genome.wustl.edu 37 6 155486407 155486407 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 155486407 155486407 G T SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.2225 p.R742I 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,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 TIAM2 HGNC ENSG00000146426 54 0 0.00 56 4 6.67 TMEM59 0 genome.wustl.edu 37 1 54502396 54502396 + RNA DEL A A - TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 54502396 54502396 A - DEL TMEM59 ENST00000470395 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TMEM59 HGNC ENSG00000116209 tier1 40 0 0.00 71 6 7.79 TMEM69 0 genome.wustl.edu 37 1 46158897 46158897 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 46158897 46158897 G T SNP TMEM69 ENST00000372025 human ensembl 74_37 +1 known missense c.64 p.V22L 0.000 NULL pfam_DUF3429 - no_errors TMEM69 HGNC ENSG00000159596 tier1 - - 29 0 0.00 60 4 6.15 TMX3 0 genome.wustl.edu 37 18 66348308 66348308 + Silent SNP T T G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 18 66348308 66348308 T G SNP TMX3 ENST00000299608 human ensembl 74_37 -1 known silent c.945 p.S315 0.995 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors TMX3 HGNC ENSG00000166479 tier1 - - 26 0 0.00 26 9 25.71 TNFAIP3 0 genome.wustl.edu 37 6 138197171 138197171 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 138197171 138197171 G T SNP TNFAIP3 ENST00000237289 human ensembl 74_37 +1 known missense c.673 p.A225S 0.937 pfam_OTU,pfscan_OTU pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC ENSG00000118503 65 0 0.00 73 4 5.19 TNIP3 0 genome.wustl.edu 37 4 122075707 122075707 + Missense_Mutation SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 122075707 122075707 T C SNP TNIP3 ENST00000057513 human ensembl 74_37 -1 known missense c.491 p.K164R 1.000 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 tier1 - - 59 0 0.00 60 34 36.17 TNR 0 genome.wustl.edu 37 1 175331871 175331871 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 175331871 175331871 C T SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.2782 p.E928K 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 tier1 - - 76 0 0.00 149 35 19.02 TNXB 0 genome.wustl.edu 37 6 32036806 32036806 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 32036806 32036806 G T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.5695 p.L1899I 0.932 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 59 0 0.00 58 4 6.45 TPTE2 0 genome.wustl.edu 37 13 20038637 20038637 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 13 20038637 20038637 G T SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.700 p.P234T 1.000 pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 76 0 0.00 76 4 5.00 TRIM11 0 genome.wustl.edu 37 1 228582844 228582844 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 228582844 228582844 C A SNP TRIM11 ENST00000284551 human ensembl 74_37 -1 known missense c.969 p.E323D 1.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM11 HGNC ENSG00000154370 tier1 - - 65 0 0.00 73 6 7.59 TRIM5 0 genome.wustl.edu 37 11 5701291 5701291 + Silent SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 11 5701291 5701291 G T SNP TRIM5 ENST00000305836 human ensembl 74_37 -1 known silent c.117 p.L39 0.953 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM5 HGNC ENSG00000132256 62 0 0.00 61 4 6.15 TRPV4 0 genome.wustl.edu 37 12 110240891 110240891 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 12 110240891 110240891 C T SNP TRPV4 ENST00000261740 human ensembl 74_37 -1 known missense c.617 p.R206H 1.000 tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 tier1 - - 62 0 0.00 54 8 12.90 TSHZ3 0 genome.wustl.edu 37 19 31769762 31769762 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 31769762 31769762 C T SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.937 p.A313T 0.907 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 tier1 rs200738522 - 34 0 0.00 61 18 21.69 TTC28 0 genome.wustl.edu 37 22 28389392 28389392 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 22 28389392 28389392 C T SNP TTC28 ENST00000397906 human ensembl 74_37 -1 novel missense c.5359 p.A1787T 0.999 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 tier1 - - 87 0 0.00 29 29 50.00 TTN 0 genome.wustl.edu 37 2 179396213 179396213 + Silent SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 179396213 179396213 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.97425 p.R32475 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 40 0 0.00 39 4 9.30 TTN 0 genome.wustl.edu 37 2 179439379 179439379 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 179439379 179439379 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.63776 p.P21259H 1.000 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 - - 39 0 0.00 51 7 12.07 TTN 0 genome.wustl.edu 37 2 179401681 179401681 + Silent SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 179401681 179401681 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.92451 p.I30817 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 43 0 0.00 40 3 6.98 TTN 0 genome.wustl.edu 37 2 179404446 179404446 + Silent SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 179404446 179404446 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.90642 p.G30214 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 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 21 0 0.00 24 2 7.69 TTN 0 genome.wustl.edu 37 2 179424606 179424608 + In_Frame_Del DEL TTC TTC - TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 179424606 179424608 TTC 0 DEL TTN ENST00000342992 human ensembl 74_37 -1 known in_frame_del c.78549_78547 p.E26183in_frame_del 1.000:1.000:1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 26 0 0.00 49 7 12.50 TTN 0 genome.wustl.edu 37 2 179453427 179453427 + Silent SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 179453427 179453427 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.55321 p.R18441 0.985 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 35 0 0.00 55 3 5.17 TTN 0 genome.wustl.edu 37 2 179577515 179577515 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 179577515 179577515 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.23505 p.F7835L 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 29 0 0.00 19 2 9.52 TUBA3C 0 genome.wustl.edu 37 13 19751215 19751215 + Missense_Mutation SNP A A G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 13 19751215 19751215 A G SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known missense c.908 p.V303A 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 tier1 - - 184 0 0.00 141 21 12.96 TUBGCP4 0 genome.wustl.edu 37 15 43678001 43678001 + Nonsense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 15 43678001 43678001 G T SNP TUBGCP4 ENST00000260383 human ensembl 74_37 +1 known nonsense c.736 p.E246* 1.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP4 HGNC ENSG00000137822 tier1 - - 71 0 0.00 70 4 5.41 TUSC2 0 genome.wustl.edu 37 3 50363557 50363557 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 50363557 50363557 C A SNP TUSC2 ENST00000232496 human ensembl 74_37 -1 known missense c.328 p.V110L 1.000 NULL NULL - no_errors TUSC2 HGNC ENSG00000114383 tier1 - - 97 0 0.00 73 15 17.05 TYRO3 0 genome.wustl.edu 37 15 41853368 41853368 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 15 41853368 41853368 G T SNP TYRO3 ENST00000263798 human ensembl 74_37 +1 known missense c.168 p.Q56H 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TYRO3 HGNC ENSG00000092445 tier1 - - 69 0 0.00 75 4 5.06 UGT1A10 0 genome.wustl.edu 37 2 234545575 234545575 + Missense_Mutation SNP A A G TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 234545575 234545575 A G SNP UGT1A10 ENST00000344644 human ensembl 74_37 +1 known missense c.407 p.Y136C 0.001 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A10 HGNC ENSG00000242515 tier1 - - 54 0 0.00 104 9 7.96 URB1 0 genome.wustl.edu 37 21 33694247 33694247 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 21 33694247 33694247 G T SNP URB1 ENST00000382751 human ensembl 74_37 -1 known missense c.5348 p.T1783K 0.007 superfamily_ARM-type_fold pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC ENSG00000142207 tier1 - - 55 0 0.00 26 17 39.53 UROC1 0 genome.wustl.edu 37 3 126208173 126208173 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 126208173 126208173 C A SNP UROC1 ENST00000290868 human ensembl 74_37 -1 known missense c.1654 p.D552Y 0.999 pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 57 0 0.00 50 3 5.66 USP29 0 genome.wustl.edu 37 19 57641839 57641839 + Missense_Mutation SNP A A C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 57641839 57641839 A C SNP USP29 ENST00000254181 human ensembl 74_37 +1 known missense c.1796 p.K599T 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP29 HGNC ENSG00000131864 tier1 - - 30 0 0.00 56 20 26.32 UTP3 0 genome.wustl.edu 37 4 71555010 71555010 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 4 71555010 71555010 G A SNP UTP3 ENST00000254803 human ensembl 74_37 +1 known missense c.616 p.D206N 1.000 NULL pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D - no_errors UTP3 HGNC ENSG00000132467 tier1 - - 52 0 0.00 59 8 11.94 VAV3 0 genome.wustl.edu 37 1 108145687 108145687 + Missense_Mutation SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 108145687 108145687 T C SNP VAV3 ENST00000370056 human ensembl 74_37 -1 known missense c.2114 p.E705G 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 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,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 tier1 - - 48 0 0.00 26 36 58.06 VPS4A 0 genome.wustl.edu 37 16 69350218 69350218 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 16 69350218 69350218 G A SNP VPS4A ENST00000254950 human ensembl 74_37 +1 known missense c.224 p.R75Q 0.998 smart_MIT pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4A HGNC ENSG00000132612 tier1 - - 119 0 0.00 109 42 27.81 WASL 0 genome.wustl.edu 37 7 123329200 123329200 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 7 123329200 123329200 G T SNP WASL ENST00000223023 human ensembl 74_37 -1 known missense c.1352 p.A451D 1.000 superfamily_WASP_C pfam_WH1/EVH1,pfam_CRIB_dom,pfam_WH2_dom,superfamily_WASP_C,smart_WH1/EVH1,smart_CRIB_dom,smart_WH2_dom,pfscan_CRIB_dom,pfscan_WH1/EVH1,pfscan_WH2_dom - no_errors WASL HGNC ENSG00000106299 36 0 0.00 42 4 8.70 WDR16 0 genome.wustl.edu 37 17 9489127 9489127 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 17 9489127 9489127 G T SNP WDR16 ENST00000299764 human ensembl 74_37 +1 known missense c.138 p.Q46H 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR16 HGNC ENSG00000166596 tier1 - - 48 0 0.00 59 4 6.35 WDR27 0 genome.wustl.edu 37 6 170052081 170052081 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 170052081 170052081 G T SNP WDR27 ENST00000448612 human ensembl 74_37 -1 known missense c.1426 p.Q476K 0.608 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR27 HGNC ENSG00000184465 tier1 - - 73 0 0.00 68 4 5.56 XAB2 0 genome.wustl.edu 37 19 7685536 7685536 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 7685536 7685536 G T SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known missense c.1991 p.A664E 0.987 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 98 0 0.00 66 4 5.71 XDH 0 genome.wustl.edu 37 2 31609316 31609316 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 31609316 31609316 G T SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.757 p.P253T 0.978 pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 27 0 0.00 64 4 5.88 XIRP1 0 genome.wustl.edu 37 3 39226171 39226171 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 39226171 39226171 G T SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.4766 p.T1589K 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 tier1 - - 54 0 0.00 58 4 6.45 XPO1 0 genome.wustl.edu 37 2 61719269 61719269 + Silent SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 2 61719269 61719269 G T SNP XPO1 ENST00000401558 human ensembl 74_37 -1 known silent c.1788 p.R596 0.907 superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 59 0 0.00 87 5 5.43 ZBED1 0 genome.wustl.edu 37 X 2407512 2407512 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 X 2407512 2407512 G A SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known missense c.1249 p.P417S 1.000 superfamily_RNaseH-like_dom pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 tier1 - - 80 0 0.00 66 8 10.81 ZCWPW2 0 genome.wustl.edu 37 3 28566121 28566121 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 3 28566121 28566121 G A SNP ZCWPW2 ENST00000383768 human ensembl 74_37 +1 known missense c.1013 p.C338Y 1.000 NULL pfam_Znf_CW,pfam_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW - no_errors ZCWPW2 HGNC ENSG00000206559 69 0 0.00 86 7 7.53 ZFAT 0 genome.wustl.edu 37 8 135490915 135490915 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 8 135490915 135490915 G A SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.3542 p.T1181M 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 tier1 - - 39 0 0.00 28 4 12.50 ZFHX4 0 genome.wustl.edu 37 8 77766811 77766811 + Silent SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 8 77766811 77766811 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.7654 p.L2552 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 29 0 0.00 31 13 29.55 ZFP30 0 genome.wustl.edu 37 19 38126679 38126679 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 38126679 38126679 C T SNP ZFP30 ENST00000351218 human ensembl 74_37 -1 known missense c.763 p.G255R 0.037 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 ZFP30 HGNC ENSG00000120784 tier1 - - 54 0 0.00 91 12 11.65 ZIM2 0 genome.wustl.edu 37 19 57286732 57286732 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 57286732 57286732 C A SNP ZIM2 ENST00000221722 human ensembl 74_37 -1 known missense c.908 p.G303V 0.918 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ENSG00000269699 tier1 - - 48 0 0.00 52 4 7.14 ZMYM1 0 genome.wustl.edu 37 1 35580031 35580031 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 35580031 35580031 G A SNP ZMYM1 ENST00000359858 human ensembl 74_37 +1 novel missense c.2600 p.R867Q 0.972 superfamily_RNaseH-like_dom pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM1 HGNC ENSG00000197056 tier1 - - 58 0 0.00 54 22 28.95 ZMYM3 0 genome.wustl.edu 37 X 70473041 70473041 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 X 70473041 70473041 C A SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known missense c.65 p.G22V 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 tier1 - - 70 0 0.00 72 4 5.26 ZNF177 0 genome.wustl.edu 37 19 9491836 9491836 + Missense_Mutation SNP A A C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 9491836 9491836 A C SNP ZNF177 ENST00000434737 human ensembl 74_37 +1 known missense c.829 p.T277P 0.118 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 ZNF177 HGNC ENSG00000188629 tier1 - - 25 0 0.00 25 25 50.00 ZNF32 0 genome.wustl.edu 37 10 44139834 44139834 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 10 44139834 44139834 C A SNP ZNF32 ENST00000374433 human ensembl 74_37 -1 known missense c.486 p.E162D 0.028 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF32 HGNC ENSG00000169740 tier1 - - 65 0 0.00 54 4 6.90 ZNF451 0 genome.wustl.edu 37 6 56965914 56965914 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 6 56965914 56965914 G A SNP ZNF451 ENST00000370708 human ensembl 74_37 +1 known missense c.700 p.E234K 1.000 NULL pfam_LAP2alpha - no_errors ZNF451 HGNC ENSG00000112200 21 0 0.00 52 4 7.14 ZNF461 0 genome.wustl.edu 37 19 37129824 37129824 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 37129824 37129824 C T SNP ZNF461 ENST00000588268 human ensembl 74_37 -1 known missense c.1423 p.G475S 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 ZNF461 HGNC ENSG00000197808 tier1 - - 58 0 0.00 89 28 23.73 ZNF48 0 genome.wustl.edu 37 16 30409330 30409330 + Silent SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 16 30409330 30409330 C A SNP ZNF48 ENST00000320159 human ensembl 74_37 +1 known silent c.759 p.P253 0.637 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 tier1 - - 86 0 0.00 136 13 8.72 ZNF496 0 genome.wustl.edu 37 1 247464366 247464366 + Missense_Mutation SNP C C T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 1 247464366 247464366 C T SNP ZNF496 ENST00000366498 human ensembl 74_37 -1 known missense c.1327 p.V443M 0.905 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 tier1 - - 99 0 0.00 95 7 6.86 ZNF581 0 genome.wustl.edu 37 19 56156513 56156513 + Silent SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 56156513 56156513 G A SNP ZNF581 ENST00000270451 human ensembl 74_37 +1 known silent c.576 p.T192 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF581 HGNC ENSG00000171425 tier1 - - 212 0 0.00 182 49 21.12 ZNF627 0 genome.wustl.edu 37 19 11727779 11727779 + Missense_Mutation SNP T T C TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 19 11727779 11727779 T C SNP ZNF627 ENST00000361113 human ensembl 74_37 +1 known missense c.461 p.F154S 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF627 HGNC ENSG00000198551 tier1 - - 110 0 0.00 101 36 26.28 ZNF770 0 genome.wustl.edu 37 15 35275397 35275397 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 15 35275397 35275397 G T SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known missense c.239 p.P80H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 tier1 - - 75 0 0.00 68 4 5.56 ZNF81 0 genome.wustl.edu 37 X 47775683 47775683 + Silent SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 766dcd2a-8fce-43da-826c-7d1b73bedbce 26e187fb-b287-4cd8-80ec-215cae9d6379 X 47775683 47775683 C A SNP ZNF81 ENST00000338637 human ensembl 74_37 +1 known silent c.1638 p.T546 0.987 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 ZNF81 HGNC ENSG00000197779 tier1 - - 18 0 0.00 0 18 100.00