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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val PLEKHM2 0 genome.wustl.edu 37 1 16054148 16054148 + Silent SNP G G T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 1 16054148 16054148 G T SNP PLEKHM2 ENST00000375799 human ensembl 74_37 +1 known silent c.1581 p.L527 0.091 NULL pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 tier1 - - 36 0 0.00 44 4 8.33 MDM2 0 genome.wustl.edu 37 12 69210612 69210612 + Silent SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 12 69210612 69210612 G A SNP MDM2 ENST00000462284 human ensembl 74_37 +1 known silent c.195 p.Q65 1.000 pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4 pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM2 HGNC ENSG00000135679 tier1 - - 50 0 0.00 41 4 8.89 MTX1 0 genome.wustl.edu 37 1 155178611 155178611 + Frame_Shift_Del DEL C C - TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 1 155178611 155178611 C - DEL MTX1 ENST00000368376 human ensembl 74_37 +1 known frame_shift_del c.16 p.R8fs 0.998 NULL pfam_Sam37/metaxin,superfamily_Glutathione-S-Trfase_C-like - no_errors MTX1 HGNC ENSG00000173171 tier1 13 0 0.00 6 2 25.00 TNKS2 0 genome.wustl.edu 37 10 93576932 93576932 + Missense_Mutation SNP G G T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 10 93576932 93576932 G T SNP TNKS2 ENST00000371627 human ensembl 74_37 +1 known missense c.466 p.D156Y 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 tier1 - - 29 0 0.00 28 5 15.15 DEC1 0 genome.wustl.edu 37 9 118068191 118068191 + R SNP T T A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 9 118068191 118068191 T A SNP DEC1 ENST00000477580 human ensembl 74_37 +1 known rna NULL NULL 0.409 - - - no_errors DEC1 HGNC ENSG00000173077 tier1 - - 58 0 0.00 45 4 8.16 ATRX 0 genome.wustl.edu 37 X 76872085 76872086 + Frame_Shift_Ins INS - - A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 X 76872085 76872086 - A INS ATRX ENST00000373344 human ensembl 74_37 -1 known frame_shift_ins c.5562_5561 p.L1854fs 1.000:1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 106 0 0.00 35 30 46.15 FAM171A1 0 genome.wustl.edu 37 10 15256356 15256356 + Missense_Mutation SNP G G T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 10 15256356 15256356 G T SNP FAM171A1 ENST00000378116 human ensembl 74_37 -1 known missense c.1231 p.H411N 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 tier1 - - 40 0 0.00 24 4 14.29 TMEM25 0 genome.wustl.edu 37 11 118402987 118402987 + Missense_Mutation SNP T T A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 11 118402987 118402987 T A SNP TMEM25 ENST00000533102 human ensembl 74_37 +1 known missense c.193 p.W65R 1.000 pfam_CD80_C2-set,pfscan_Ig-like_dom pfam_CD80_C2-set,pfscan_Ig-like_dom - no_errors TMEM25 HGNC ENSG00000149582 tier1 - - 33 0 0.00 33 4 10.81 PLG 0 genome.wustl.edu 37 6 161139335 161139335 + Missense_Mutation SNP C C A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 6 161139335 161139335 C A SNP PLG ENST00000308192 human ensembl 74_37 +1 known missense c.797 p.P266Q 0.475 pirsf_Pept_S1A_plasmin,superfamily_Kringle-like pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 tier1 - - 31 0 0.00 39 6 13.33 SNHG14 0 genome.wustl.edu 37 15 25226996 25226996 + R SNP G G T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 15 25226996 25226996 G T SNP SNHG14 ENST00000551631 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 9 0 0.00 5 4 44.44 TMEM246 0 genome.wustl.edu 37 9 104238794 104238794 + Missense_Mutation SNP C C A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 9 104238794 104238794 C A SNP TMEM246 ENST00000374847 human ensembl 74_37 -1 known missense c.581 p.C194F 1.000 NULL NULL - no_errors TMEM246 HGNC ENSG00000165152 tier1 - - 34 0 0.00 40 4 8.89 CAMK4 0 genome.wustl.edu 37 5 110560133 110560134 + R INS - - GGCAGCGGCGGC TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 5 110560133 110560134 - GGCAGCGGCGGC INS CAMK4 ENST00000509408 human ensembl 74_37 +1 known rna NULL NULL 0.033:0.224 - - - no_errors CAMK4 HGNC ENSG00000152495 tier1 LOC101060604 0 genome.wustl.edu 37 16 21531204 21531204 + R SNP G G C TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 16 21531204 21531204 G C SNP LOC101060604 ENST00000435197 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2547E10.2 Clone_based_vega_gene ENSG00000180747 tier1 - - 161 0 0.00 137 32 18.93 DGCR8 0 genome.wustl.edu 37 22 20077333 20077333 + Missense_Mutation SNP G G T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 22 20077333 20077333 G T SNP DGCR8 ENST00000351989 human ensembl 74_37 +1 known missense c.1022 p.R341L 1.000 NULL pfam_dsR-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsR-bd_dom,pfscan_WW_dom,pfscan_dsR-bd_dom - no_errors DGCR8 HGNC ENSG00000128191 tier1 - - 32 0 0.00 31 4 11.43 DENND4B 0 genome.wustl.edu 37 1 153913520 153913520 + Missense_Mutation SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 1 153913520 153913520 C T SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.1186 p.A396T 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 tier1 - - 25 0 0.00 38 4 9.52 ATMIN 0 genome.wustl.edu 37 16 81078150 81078150 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 16 81078150 81078150 G A SNP ATMIN ENST00000299575 human ensembl 74_37 +1 known missense c.2047 p.A683T 0.156 NULL smart_Znf_C2H2-like - no_errors ATMIN HGNC ENSG00000166454 tier1 - - 36 0 0.00 19 3 13.64 RASA4CP 0 genome.wustl.edu 37 7 44073723 44073723 + R SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 7 44073723 44073723 C T SNP RASA4CP ENST00000425524 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RASA4CP HGNC ENSG00000228903 tier1 - - 110 0 0.00 97 10 9.35 SCN4B 0 genome.wustl.edu 37 11 118006825 118006826 + R INS - - A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 11 118006825 118006826 - A INS SCN4B ENST00000423160 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors SCN4B HGNC ENSG00000177098 tier1 11 0 0.00 6 4 40.00 XIST 0 genome.wustl.edu 37 X 73044010 73044010 + R SNP G G T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 X 73044010 73044010 G T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.053 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 24 0 0.00 15 4 21.05 CAPN2 0 genome.wustl.edu 37 1 223963659 223963659 + R SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 1 223963659 223963659 C T SNP CAPN2 ENST00000463997 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors CAPN2 HGNC ENSG00000162909 tier1 - - 20 0 0.00 13 3 18.75 ABCC8 0 genome.wustl.edu 37 11 17427096 17427096 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 11 17427096 17427096 G A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.3347 p.T1116M 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 tier1 - - 31 0 0.00 17 16 48.48 CACFD1 0 genome.wustl.edu 37 9 136330517 136330517 + Missense_Mutation SNP G G T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 9 136330517 136330517 G T SNP CACFD1 ENST00000540581 human ensembl 74_37 +1 known missense c.268 p.A90S 0.969 pfam_TVP18/Ca-channel_flower pfam_TVP18/Ca-channel_flower - no_errors CACFD1 HGNC ENSG00000160325 tier1 - - 32 0 0.00 28 5 15.15 EH 0 genome.wustl.edu 37 1 225754957 225754957 + Missense_Mutation SNP G G T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 1 225754957 225754957 G T SNP EH ENST00000366844 human ensembl 74_37 -1 known missense c.165 p.D55E 1.000 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors EH HGNC ENSG00000154380 tier1 - - 52 0 0.00 35 4 10.26 CD300LB 0 genome.wustl.edu 37 17 72521968 72521968 + Missense_Mutation SNP C C A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 17 72521968 72521968 C A SNP CD300LB ENST00000392621 human ensembl 74_37 -1 known missense c.400 p.D134Y 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300LB HGNC ENSG00000178789 tier1 - - 71 0 0.00 36 7 16.28 NLRP4 0 genome.wustl.edu 37 19 56369983 56369983 + Nonsense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 19 56369983 56369983 G A SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known nonsense c.1224 p.W408* 0.998 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 tier1 - - 68 0 0.00 53 8 13.11 WRB 0 genome.wustl.edu 37 21 40763742 40763742 + Missense_Mutation SNP G G T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 21 40763742 40763742 G T SNP WRB ENST00000333781 human ensembl 74_37 +1 known missense c.316 p.V106F 1.000 NULL NULL - no_errors WRB HGNC ENSG00000182093 tier1 - - 31 0 0.00 30 7 18.92 PELI3 0 genome.wustl.edu 37 11 66243176 66243176 + Silent SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 11 66243176 66243176 G A SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known silent c.948 p.K316 1.000 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 tier1 - - 12 0 0.00 12 4 25.00 SOS2 0 genome.wustl.edu 37 14 50623782 50623782 + Silent SNP G G T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 14 50623782 50623782 G T SNP SOS2 ENST00000216373 human ensembl 74_37 -1 known silent c.1992 p.G664 0.954 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 tier1 - - 57 0 0.00 45 4 8.16 UPF2 0 genome.wustl.edu 37 10 11997274 11997274 + Missense_Mutation SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 10 11997274 11997274 C T SNP UPF2 ENST00000356352 human ensembl 74_37 -1 known missense c.2807 p.G936D 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 tier1 - - 76 0 0.00 29 4 12.12 BTBD17 0 genome.wustl.edu 37 17 72357877 72357877 + Missense_Mutation SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 17 72357877 72357877 C T SNP BTBD17 ENST00000375366 human ensembl 74_37 -1 known missense c.82 p.A28T 0.993 NULL pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD17 HGNC ENSG00000204347 tier1 - - 57 0 0.00 52 5 8.77 FRRS1 0 genome.wustl.edu 37 1 100176425 100176425 + Missense_Mutation SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 1 100176425 100176425 C T SNP FRRS1 ENST00000287474 human ensembl 74_37 -1 known missense c.1561 p.V521I 1.000 pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors FRRS1 HGNC ENSG00000156869 tier1 - - 71 0 0.00 122 17 12.23 DAB1 0 genome.wustl.edu 37 1 57535064 57535064 + Missense_Mutation SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 1 57535064 57535064 C T SNP DAB1 ENST00000371231 human ensembl 74_37 -1 known missense c.632 p.R211H 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB1 HGNC ENSG00000173406 tier1 - - 46 0 0.00 62 12 16.22 C1orf86 0 genome.wustl.edu 37 1 2118644 2118644 + Missense_Mutation SNP G G C TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 1 2118644 2118644 G C SNP C1orf86 ENST00000414253 human ensembl 74_37 -1 known missense c.541 p.L181V 1.000 NULL NULL - no_errors C1orf86 HGNC ENSG00000162585 tier1 - - 47 0 0.00 66 10 13.16 ZNF75D 0 genome.wustl.edu 37 X 134427799 134427799 + Frame_Shift_Del DEL C C - TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 X 134427799 134427799 C - DEL ZNF75D ENST00000370766 human ensembl 74_37 -1 known frame_shift_del c.268 p.E90fs 0.728 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF75D HGNC ENSG00000186376 tier1 37 0 0.00 7 2 22.22 ZNF697 0 genome.wustl.edu 37 1 120165569 120165569 + Missense_Mutation SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 1 120165569 120165569 C T SNP ZNF697 ENST00000421812 human ensembl 74_37 -1 known missense c.1397 p.R466H 0.313 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ENSG00000143067 tier1 - - 32 0 0.00 16 17 51.52 RIMBP2 0 genome.wustl.edu 37 12 130927121 130927121 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 12 130927121 130927121 G A SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.725 p.T242M 0.237 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 tier1 rs147881182 - 52 0 0.00 57 15 20.83 CCDC105 0 genome.wustl.edu 37 19 15132310 15132310 + Silent SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 19 15132310 15132310 G A SNP CCDC105 ENST00000292574 human ensembl 74_37 +1 known silent c.1020 p.A340 0.945 pfam_Tektin pfam_Tektin - no_errors CCDC105 HGNC ENSG00000160994 tier1 - - 41 0 0.00 35 6 14.63 CPT1B 0 genome.wustl.edu 37 22 51007780 51007780 + Missense_Mutation SNP T T A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 22 51007780 51007780 T A SNP CPT1B ENST00000312108 human ensembl 74_37 -1 known missense c.2306 p.K769M 0.980 NULL pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 tier1 - - 74 0 0.00 53 5 8.62 KIAA1841 0 genome.wustl.edu 37 2 61315638 61315639 + R INS - - TA TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 2 61315638 61315639 - TA INS KIAA1841 ENST00000482513 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors KIAA1841 HGNC ENSG00000162929 tier1 22 0 0.00 19 3 13.64 SLC38A4 0 genome.wustl.edu 37 12 47172381 47172381 + Missense_Mutation SNP T T C TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 12 47172381 47172381 T C SNP SLC38A4 ENST00000266579 human ensembl 74_37 -1 known missense c.896 p.E299G 0.319 NULL pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 tier1 - - 34 0 0.00 20 22 52.38 JAKMIP3 0 genome.wustl.edu 37 10 133930650 133930650 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 10 133930650 133930650 G A SNP JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known missense c.205 p.A69T 0.811 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 tier1 - - 35 0 0.00 13 12 48.00 ZNF610 0 genome.wustl.edu 37 19 52869325 52869325 + Missense_Mutation SNP T T C TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 19 52869325 52869325 T C SNP ZNF610 ENST00000321287 human ensembl 74_37 +1 known missense c.694 p.Y232H 0.068 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 ZNF610 HGNC ENSG00000167554 tier1 - - 40 0 0.00 37 4 9.76 KLF5 0 genome.wustl.edu 37 13 73636861 73636861 + Frame_Shift_Del DEL G G - TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 13 73636861 73636861 G - DEL KLF5 ENST00000377687 human ensembl 74_37 +1 known frame_shift_del c.1124 p.C375fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF5 HGNC ENSG00000102554 tier1 43 0 0.00 12 2 14.29 MYO5A 0 genome.wustl.edu 37 15 52688573 52688573 + Missense_Mutation SNP A A T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 15 52688573 52688573 A T SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.1341 p.N447K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 tier1 - - 67 0 0.00 52 5 8.77 CHD5 0 genome.wustl.edu 37 1 6214848 6214848 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 1 6214848 6214848 G A SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.617 p.A206V 1.000 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 tier1 - - 29 0 0.00 43 6 12.24 LMTK2 0 genome.wustl.edu 37 7 97770732 97770732 + Silent SNP T T C TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 7 97770732 97770732 T C SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known silent c.255 p.D85 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 tier1 - - 25 0 0.00 33 4 10.81 C20orf194 0 genome.wustl.edu 37 20 3305587 3305587 + Missense_Mutation SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 20 3305587 3305587 C T SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known missense c.1217 p.G406E 0.004 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 tier1 - - 58 0 0.00 69 6 8.00 ASCC3 0 genome.wustl.edu 37 6 101253758 101253758 + Splice_Site SNP T T A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 6 101253758 101253758 T A SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known splice_site c.802-2 e4-2 0.999 - - - no_errors ASCC3 HGNC ENSG00000112249 tier1 - - 34 0 0.00 18 3 14.29 WRN 0 genome.wustl.edu 37 8 31014958 31014958 + Silent SNP C C G TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 8 31014958 31014958 C G SNP WRN ENST00000298139 human ensembl 74_37 +1 known silent c.3894 p.G1298 1.000 NULL pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_D/R_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_D_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 tier1 - - 30 0 0.00 17 8 32.00 GPR182 0 genome.wustl.edu 37 12 57390107 57390107 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 12 57390107 57390107 G A SNP GPR182 ENST00000300098 human ensembl 74_37 +1 known missense c.1114 p.A372T 0.005 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G10D_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors GPR182 HGNC ENSG00000166856 tier1 - - 38 0 0.00 21 11 34.38 CDH20 0 genome.wustl.edu 37 18 59166690 59166690 + Missense_Mutation SNP C C A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 18 59166690 59166690 C A SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.518 p.T173N 0.994 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 tier1 - - 34 0 0.00 46 26 36.11 TECTA 0 genome.wustl.edu 37 11 121028808 121028808 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 11 121028808 121028808 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.4564 p.D1522N 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 26 0 0.00 17 4 19.05 C2CD3 0 genome.wustl.edu 37 11 73814461 73814461 + Silent SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 11 73814461 73814461 G A SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known silent c.2295 p.L765 0.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 tier1 - - 85 0 0.00 43 19 30.65 ACAN 0 genome.wustl.edu 37 15 89390479 89390479 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 15 89390479 89390479 G A SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.1435 p.V479I 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 tier1 - - 53 0 0.00 40 11 21.57 ZNF268 0 genome.wustl.edu 37 12 133779911 133779911 + Missense_Mutation SNP C C G TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 12 133779911 133779911 C G SNP ZNF268 ENST00000228289 human ensembl 74_37 +1 known missense c.1639 p.Q547E 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 ZNF268 HGNC ENSG00000090612 tier1 - - 30 0 0.00 49 12 19.67 ASB2 0 genome.wustl.edu 37 14 94430829 94430829 + Silent SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 14 94430829 94430829 G A SNP ASB2 ENST00000555019 human ensembl 74_37 -1 novel silent c.57 p.Y19 1.000 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB2 HGNC ENSG00000100628 tier1 - - 42 0 0.00 41 4 8.89 KCNV2 0 genome.wustl.edu 37 9 2717764 2717764 + Missense_Mutation SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 9 2717764 2717764 C T SNP KCNV2 ENST00000382082 human ensembl 74_37 +1 known missense c.25 p.R9W 0.005 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 tier1 - - 51 0 0.00 41 30 42.25 RNF167 0 genome.wustl.edu 37 17 4844429 4844429 + Missense_Mutation SNP A A T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 17 4844429 4844429 A T SNP RNF167 ENST00000262482 human ensembl 74_37 +1 known missense c.142 p.T48S 0.003 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF167 HGNC ENSG00000108523 tier1 - - 35 0 0.00 35 4 10.26 SFMBT2 0 genome.wustl.edu 37 10 7214483 7214483 + Missense_Mutation SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 10 7214483 7214483 C T SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.2125 p.V709M 0.289 superfamily_ARM-type_fold pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 tier1 - - 70 0 0.00 37 8 17.78 SLIT2 0 genome.wustl.edu 37 4 20525452 20525452 + Silent SNP T T C TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 4 20525452 20525452 T C SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known silent c.1200 p.L400 0.992 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 57 0 0.00 39 5 11.36 ENSG00000249149 0 genome.wustl.edu 37 5 72706300 72706300 + R SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 5 72706300 72706300 C T SNP ENSG00000249149 ENST00000505955 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-79P5.3 Clone_based_vega_gene ENSG00000249149 tier1 - - 20 0 0.00 4 11 73.33 SHROOM3 0 genome.wustl.edu 37 4 77662897 77662897 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 4 77662897 77662897 G A SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.3571 p.G1191R 0.002 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 tier1 - - 14 0 0.00 19 7 26.92 CAPN13 0 genome.wustl.edu 37 2 31000431 31000431 + Splice_Site SNP A A T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 2 31000431 31000431 A T SNP CAPN13 ENST00000295055 human ensembl 74_37 -1 known splice_site c.271+2 e2+2 1.000 - - - no_errors CAPN13 HGNC ENSG00000162949 tier1 - - 61 0 0.00 40 8 16.67 CEP89 0 genome.wustl.edu 37 19 33392250 33392250 + Missense_Mutation SNP A A G TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 19 33392250 33392250 A G SNP CEP89 ENST00000305768 human ensembl 74_37 -1 known missense c.1634 p.L545P 0.997 NULL NULL - no_errors CEP89 HGNC ENSG00000121289 tier1 - - 42 0 0.00 37 4 9.76 ZDHHC1 0 genome.wustl.edu 37 16 67428948 67428948 + Missense_Mutation SNP G G T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 16 67428948 67428948 G T SNP ZDHHC1 ENST00000348579 human ensembl 74_37 -1 known missense c.1187 p.A396E 0.002 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC1 HGNC ENSG00000159714 tier1 - - 33 0 0.00 30 4 11.76 FBN3 0 genome.wustl.edu 37 19 8131121 8131121 + Silent SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 19 8131121 8131121 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known silent c.8112 p.S2704 0.000 pirsf_FBN 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 - - 76 0 0.00 47 7 12.96 INCENP 0 genome.wustl.edu 37 11 61897827 61897827 + Silent SNP A A G TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 11 61897827 61897827 A G SNP INCENP ENST00000394818 human ensembl 74_37 +1 known silent c.828 p.P276 0.003 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 tier1 - - 62 0 0.00 44 24 35.29 AGAP2 0 genome.wustl.edu 37 12 58123509 58123509 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 12 58123509 58123509 G A SNP AGAP2 ENST00000547588 human ensembl 74_37 -1 known missense c.2470 p.P824S 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP2 HGNC ENSG00000135439 tier1 - - 47 0 0.00 48 7 12.73 CHD9 0 genome.wustl.edu 37 16 53321893 53321893 + Missense_Mutation SNP A A C TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 16 53321893 53321893 A C SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.5214 p.K1738N 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 tier1 - - 43 0 0.00 11 22 66.67 UNC5B 0 genome.wustl.edu 37 10 73044578 73044578 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 10 73044578 73044578 G A SNP UNC5B ENST00000335350 human ensembl 74_37 +1 known missense c.406 p.A136T 0.987 smart_Ig_sub pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5B HGNC ENSG00000107731 tier1 - - 25 0 0.00 12 5 29.41 TSC2 0 genome.wustl.edu 37 16 2136285 2136285 + Missense_Mutation SNP A A T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 16 2136285 2136285 A T SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known missense c.4754 p.K1585M 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 tier1 - - 48 0 0.00 43 4 8.51 PATZ1 0 genome.wustl.edu 37 22 31723052 31723052 + Missense_Mutation SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 22 31723052 31723052 C T SNP PATZ1 ENST00000266269 human ensembl 74_37 -1 known missense c.1889 p.R630Q 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC ENSG00000100105 tier1 - - 50 0 0.00 43 5 10.42 LGI1 0 genome.wustl.edu 37 10 95537148 95537148 + Silent SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 10 95537148 95537148 G A SNP LGI1 ENST00000371418 human ensembl 74_37 +1 known silent c.300 p.S100 0.995 smart_Leu-rich_rpt_typical-subtyp pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI1 HGNC ENSG00000108231 tier1 - - 45 0 0.00 49 5 9.26 CAP1 0 genome.wustl.edu 37 1 40535300 40535300 + R SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 1 40535300 40535300 G A SNP CAP1 ENST00000461993 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CAP1 HGNC ENSG00000131236 tier1 - - 57 0 0.00 54 6 10.00 DPY19L2 0 genome.wustl.edu 37 12 63974526 63974526 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 12 63974526 63974526 G A SNP DPY19L2 ENST00000324472 human ensembl 74_37 -1 known missense c.1816 p.R606C 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L2 HGNC ENSG00000177990 tier1 - - 78 0 0.00 81 17 17.35 WRNIP1 0 genome.wustl.edu 37 6 2770457 2770457 + Missense_Mutation SNP G G T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 6 2770457 2770457 G T SNP WRNIP1 ENST00000380773 human ensembl 74_37 +1 known missense c.1118 p.R373L 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_D_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC ENSG00000124535 tier1 - - 57 0 0.00 25 4 13.79 KCNT2 0 genome.wustl.edu 37 1 196309693 196309693 + Missense_Mutation SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 1 196309693 196309693 C T SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.1561 p.V521I 1.000 pfam_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 rs200217178 - 33 0 0.00 19 7 26.92 ITGA3 0 genome.wustl.edu 37 17 48154746 48154746 + Frame_Shift_Del DEL G G - TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 17 48154746 48154746 G - DEL ITGA3 ENST00000320031 human ensembl 74_37 +1 known frame_shift_del c.2074 p.A693fs 0.455 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 tier1 49 0 0.00 26 3 10.34 DPH1 0 genome.wustl.edu 37 17 1933486 1933486 + Missense_Mutation SNP G G T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 17 1933486 1933486 G T SNP DPH1 ENST00000263083 human ensembl 74_37 +1 known missense c.38 p.G13V 0.001 NULL pfam_DPH1/DPH2,pirsf_DPH1_eu/DPH2_arc,tigrfam_DPH1/DPH2 - no_errors DPH1 HGNC ENSG00000108963 tier1 - - 32 0 0.00 35 4 10.26 C20orf26 0 genome.wustl.edu 37 20 20258030 20258030 + Silent SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 20 20258030 20258030 C T SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known silent c.2724 p.D908 0.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 tier1 - - 44 0 0.00 76 7 8.43 FN3K 0 genome.wustl.edu 37 17 80696429 80696429 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 17 80696429 80696429 G A SNP FN3K ENST00000300784 human ensembl 74_37 +1 known missense c.206 p.R69Q 0.840 pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase - no_errors FN3K HGNC ENSG00000167363 tier1 - - 39 0 0.00 25 9 26.47 PPM1B 0 genome.wustl.edu 37 2 44429142 44429142 + Silent SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 2 44429142 44429142 G A SNP PPM1B ENST00000282412 human ensembl 74_37 +1 known silent c.804 p.L268 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom - no_errors PPM1B HGNC ENSG00000138032 tier1 - - 32 0 0.00 44 4 8.33 POPDC2 0 genome.wustl.edu 37 3 119367292 119367292 + Missense_Mutation SNP G G T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 3 119367292 119367292 G T SNP POPDC2 ENST00000341124 human ensembl 74_37 -1 known missense c.824 p.A275D 0.714 NULL pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC2 HGNC ENSG00000121577 tier1 - - 28 0 0.00 31 4 11.43 RAI1 0 genome.wustl.edu 37 17 17697094 17697096 + In_Frame_Del DEL CAG CAG - TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 17 17697094 17697096 CAG - DEL RAI1 ENST00000353383 human ensembl 74_37 +1 known in_frame_del c.832_834 p.Q281in_frame_del 0.831:0.157:0.050 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 tier1 49 0 0.00 45 5 10.00 GEN1 0 genome.wustl.edu 37 2 17941359 17941359 + Missense_Mutation SNP A A T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 2 17941359 17941359 A T SNP GEN1 ENST00000317402 human ensembl 74_37 +1 known missense c.149 p.K50M 1.000 pfam_XPG_D_repair_N,smart_XPG_D_repair_N pfam_XPG-I_dom,pfam_XPG_D_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_D_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors GEN1 HGNC ENSG00000178295 tier1 - - 79 0 0.00 39 4 9.30 KRTAP24-1 0 genome.wustl.edu 37 21 31654516 31654516 + Silent SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 21 31654516 31654516 G A SNP KRTAP24-1 ENST00000340345 human ensembl 74_37 -1 known silent c.735 p.C245 0.979 NULL pfam_KRTAP_PMG - no_errors KRTAP24-1 HGNC ENSG00000188694 tier1 - - 37 0 0.00 41 4 8.89 MFSD6L 0 genome.wustl.edu 37 17 8701913 8701913 + Missense_Mutation SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 17 8701913 8701913 C T SNP MFSD6L ENST00000329805 human ensembl 74_37 -1 known missense c.526 p.V176I 0.000 NULL superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6L HGNC ENSG00000185156 tier1 - - 56 0 0.00 63 9 12.50 PTPRU 0 genome.wustl.edu 37 1 29641954 29641954 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 1 29641954 29641954 G A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.3328 p.V1110I 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 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 tier1 - - 35 0 0.00 43 4 8.51 TP53 0 genome.wustl.edu 37 17 7577570 7577570 + Missense_Mutation SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 17 7577570 7577570 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.711 p.M237I 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 40 0 0.00 8 28 77.78 CDC42BPG 0 genome.wustl.edu 37 11 64594547 64594547 + Missense_Mutation SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 11 64594547 64594547 C T SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.4364 p.R1455Q 0.586 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 tier1 - - 25 0 0.00 26 5 16.13 ENSG00000264057 0 genome.wustl.edu 37 17 62927326 62927326 + R SNP T T G TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 17 62927326 62927326 T G SNP ENSG00000264057 ENST00000583052 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-583F2.1 Clone_based_vega_gene ENSG00000264057 tier1 - - 23 0 0.00 11 8 42.11 HOOK2 0 genome.wustl.edu 37 19 12874393 12874393 + Silent SNP T T C TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 19 12874393 12874393 T C SNP HOOK2 ENST00000397668 human ensembl 74_37 -1 known silent c.1959 p.R653 0.020 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 tier1 - - 40 0 0.00 35 21 37.50 ARSE 0 genome.wustl.edu 37 X 2864082 2864082 + Silent SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 X 2864082 2864082 G A SNP ARSE ENST00000545496 human ensembl 74_37 -1 known silent c.1023 p.H341 0.789 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSE HGNC ENSG00000157399 tier1 - - 76 0 0.00 47 13 21.67 HELZ2 0 genome.wustl.edu 37 20 62195106 62195106 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 20 62195106 62195106 G A SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.5069 p.A1690V 0.008 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 tier1 - - 47 0 0.00 77 36 31.86 RBMX 0 genome.wustl.edu 37 X 135956028 135956028 + R DEL G G - TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 X 135956028 135956028 G - DEL RBMX ENST00000496459 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RBMX HGNC ENSG00000147274 tier1 26 0 0.00 10 4 28.57 CATSPER2P1 0 genome.wustl.edu 37 15 44028967 44028967 + R SNP G G T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 15 44028967 44028967 G T SNP CATSPER2P1 ENST00000381680 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 tier1 - - 33 0 0.00 28 4 12.50 NUGGC 0 genome.wustl.edu 37 8 27884481 27884481 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 8 27884481 27884481 G A SNP NUGGC ENST00000341513 human ensembl 74_37 -1 known missense c.2243 p.A748V 0.979 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 tier1 - - 42 0 0.00 42 4 8.70 SHANK1 0 genome.wustl.edu 37 19 51217492 51217492 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 19 51217492 51217492 G A SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.587 p.A196V 0.985 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 tier1 - - 67 0 0.00 34 5 12.82 WDR45 0 genome.wustl.edu 37 X 48932827 48932827 + Missense_Mutation SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 X 48932827 48932827 C T SNP WDR45 ENST00000322995 human ensembl 74_37 -1 known missense c.974 p.R325H 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45 HGNC ENSG00000196998 tier1 - - 33 0 0.00 52 8 13.33 COG2 0 genome.wustl.edu 37 1 230807385 230807385 + Missense_Mutation SNP A A G TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 1 230807385 230807385 A G SNP COG2 ENST00000366669 human ensembl 74_37 +1 known missense c.898 p.S300G 1.000 NULL pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC ENSG00000135775 tier1 - - 68 0 0.00 30 11 26.83 YY1 0 genome.wustl.edu 37 14 100742831 100742831 + Missense_Mutation SNP G G T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 14 100742831 100742831 G T SNP YY1 ENST00000262238 human ensembl 74_37 +1 known missense c.908 p.C303F 1.000 smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY1 HGNC ENSG00000100811 tier1 - - 35 0 0.00 38 4 9.52 SOX14 0 genome.wustl.edu 37 3 137484304 137484304 + Missense_Mutation SNP G G T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 3 137484304 137484304 G T SNP SOX14 ENST00000306087 human ensembl 74_37 +1 known missense c.678 p.K226N 1.000 NULL pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX14 HGNC ENSG00000168875 tier1 - - 51 0 0.00 20 10 33.33 PELI3 0 genome.wustl.edu 37 11 66243493 66243493 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 11 66243493 66243493 G A SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known missense c.1265 p.C422Y 1.000 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 tier1 - - 12 0 0.00 10 7 41.18 USP18 0 genome.wustl.edu 37 22 18652696 18652696 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 22 18652696 18652696 G A SNP USP18 ENST00000215794 human ensembl 74_37 +1 known missense c.713 p.R238H 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP18 HGNC ENSG00000184979 tier1 - - 87 0 0.00 91 14 13.33 OGDHL 0 genome.wustl.edu 37 10 50953842 50953842 + Splice_Site SNP A A G TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 10 50953842 50953842 A G SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known splice_site c.1476+2 e10+2 1.000 - - - no_errors OGDHL HGNC ENSG00000197444 tier1 - - 30 0 0.00 25 4 13.79 ELAVL3 0 genome.wustl.edu 37 19 11565658 11565658 + Missense_Mutation SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 19 11565658 11565658 C T SNP ELAVL3 ENST00000359227 human ensembl 74_37 -1 known missense c.787 p.A263T 1.000 tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_R,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 tier1 - - 43 0 0.00 35 8 18.60 KHDRBS2 0 genome.wustl.edu 37 6 62604721 62604721 + Missense_Mutation SNP A A T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 6 62604721 62604721 A T SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.629 p.I210N 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 tier1 - - 55 0 0.00 50 9 15.25 NRD1 0 genome.wustl.edu 37 1 52305981 52305981 + Missense_Mutation SNP C C T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 1 52305981 52305981 C T SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known missense c.547 p.D183N 1.000 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 tier1 - - 31 0 0.00 35 4 10.26 DJC13 0 genome.wustl.edu 37 3 132175605 132175605 + Missense_Mutation SNP G G T TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 3 132175605 132175605 G T SNP DJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.1278 p.E426D 1.000 NULL pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DJC13 HGNC ENSG00000138246 tier1 - - 29 0 0.00 21 3 12.50 DTX1 0 genome.wustl.edu 37 12 113496104 113496104 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 3ace7f8c-f2d1-4d11-a831-3a6c4596b7cc e53ef50a-f7fe-49d0-a177-771e1fad6e10 12 113496104 113496104 G A SNP DTX1 ENST00000257600 human ensembl 74_37 +1 known missense c.107 p.R36H 1.000 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 tier1 - - 49 0 0.00 97 9 8.49