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 ACADS 0 genome.wustl.edu 37 12 121176660 121176660 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 12 121176660 121176660 C T SNP ACADS ENST00000242592 human ensembl 74_37 +1 known missense c.971 p.A324V 1.000 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADS HGNC ENSG00000122971 77 0 0.00 56 4 6.67 ACOT11 0 genome.wustl.edu 37 1 55070051 55070051 + Silent SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 55070051 55070051 G A SNP ACOT11 ENST00000371316 human ensembl 74_37 +1 known silent c.1185 p.L395 1.000 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT11 HGNC ENSG00000162390 tier1 - - 60 0 0.00 32 11 25.58 ADAM32 0 genome.wustl.edu 37 8 39103684 39103684 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 8 39103684 39103684 G T SNP ADAM32 ENST00000379907 human ensembl 74_37 +1 known missense c.1901 p.G634V 0.998 pfscan_EG-like_dom pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC ENSG00000197140 tier1 - - 44 0 0.00 50 4 7.41 ADAMTS12 0 genome.wustl.edu 37 5 33588775 33588775 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 5 33588775 33588775 G T SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.2794 p.P932T 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 tier1 - - 53 0 0.00 39 4 9.30 ADAMTS16 0 genome.wustl.edu 37 5 5232548 5232548 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 5 5232548 5232548 C T SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.1769 p.S590L 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 tier1 - - 66 0 0.00 49 11 18.33 ADAMTS2 0 genome.wustl.edu 37 5 178634684 178634684 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 5 178634684 178634684 G A SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known missense c.721 p.R241C 0.470 prints_Pept_M12B_ADAM-TS2 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 tier1 rs140045997 - 91 0 0.00 60 22 26.83 ADH6 0 genome.wustl.edu 37 4 100130052 100130052 + Silent SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 4 100130052 100130052 G A SNP ADH6 ENST00000394899 human ensembl 74_37 -1 known silent c.601 p.L201 1.000 smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH6 HGNC ENSG00000172955 26 0 0.00 36 2 5.26 ADRBK2 0 genome.wustl.edu 37 22 26070486 26070486 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 22 26070486 26070486 C T SNP ADRBK2 ENST00000324198 human ensembl 74_37 +1 known missense c.638 p.T213I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors ADRBK2 HGNC ENSG00000100077 tier1 - - 91 0 0.00 71 4 5.33 AGBL1 0 genome.wustl.edu 37 15 87089267 87089267 + Missense_Mutation SNP A A G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 15 87089267 87089267 A G SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.2582 p.K861R 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 tier1 - - 64 0 0.00 40 14 25.93 AKAP3 0 genome.wustl.edu 37 12 4736244 4736244 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 12 4736244 4736244 C T SNP AKAP3 ENST00000228850 human ensembl 74_37 -1 known silent c.1824 p.K608 0.762 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 40 0 0.00 34 2 5.56 AMBRA1 0 genome.wustl.edu 37 11 46515709 46515709 + Silent SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 46515709 46515709 C A SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known silent c.2385 p.R795 0.874 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 tier1 - - 40 0 0.00 35 5 12.50 AMOT 0 genome.wustl.edu 37 X 112058796 112058796 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 X 112058796 112058796 C T SNP AMOT ENST00000371959 human ensembl 74_37 -1 known silent c.1182 p.Q394 0.970 NULL pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 34 0 0.00 24 3 11.11 ANKRD30A 0 genome.wustl.edu 37 10 37430816 37430816 + Missense_Mutation SNP T T A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 10 37430816 37430816 T A SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.823 p.L275M 0.003 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 tier1 - - 139 0 0.00 118 10 7.81 ANKRD50 0 genome.wustl.edu 37 4 125590831 125590831 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 4 125590831 125590831 C T SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.3601 p.A1201T 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 39 0 0.00 37 2 5.13 ANKRD54 0 genome.wustl.edu 37 22 38227856 38227856 + RNA SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 22 38227856 38227856 C T SNP ANKRD54 ENST00000498417 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD54 HGNC ENSG00000100124 tier1 - - 33 0 0.00 40 4 9.09 ANKS1B 0 genome.wustl.edu 37 12 99640518 99640518 + Silent SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 12 99640518 99640518 C A SNP ANKS1B ENST00000329257 human ensembl 74_37 -1 known silent c.1881 p.G627 0.997 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 tier1 - - 45 0 0.00 34 8 19.05 AP2A2 0 genome.wustl.edu 37 11 994158 994158 + Silent SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 994158 994158 G A SNP AP2A2 ENST00000332231 human ensembl 74_37 +1 known silent c.1872 p.T624 0.083 pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 54 0 0.00 40 4 9.09 APOA4 0 genome.wustl.edu 37 11 116692293 116692293 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 116692293 116692293 C T SNP APOA4 ENST00000357780 human ensembl 74_37 -1 known missense c.481 p.A161T 0.001 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA4 HGNC ENSG00000110244 15 0 0.00 22 3 12.00 APOB 0 genome.wustl.edu 37 2 21239325 21239325 + Silent SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 2 21239325 21239325 G T SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.3318 p.L1106 0.043 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 31 0 0.00 42 4 8.70 APOBEC3G 0 genome.wustl.edu 37 22 39477202 39477202 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 22 39477202 39477202 C T SNP APOBEC3G ENST00000407997 human ensembl 74_37 +1 known missense c.436 p.R146C 0.000 pfam_APOBEC_C,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC ENSG00000239713 tier1 rs200526446 - 70 0 0.00 31 8 20.51 ARHGAP9 0 genome.wustl.edu 37 12 57869649 57869649 + Nonsense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 12 57869649 57869649 C T SNP ARHGAP9 ENST00000356411 human ensembl 74_37 -1 known nonsense c.1278 p.W426* 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP9 HGNC ENSG00000123329 87 0 0.00 74 4 5.13 ARHGEF15 0 genome.wustl.edu 37 17 8215791 8215791 + Nonsense_Mutation SNP C C G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 17 8215791 8215791 C G SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known nonsense c.434 p.S145* 0.931 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 tier1 - - 125 0 0.00 62 14 18.42 ARID1A 0 genome.wustl.edu 37 1 27087417 27087417 + Frame_Shift_Del DEL C C - TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 27087417 27087417 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.1991 p.S664fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 49 0 0.00 34 14 29.17 ASPDH 0 genome.wustl.edu 37 19 51016575 51016575 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 19 51016575 51016575 C T SNP ASPDH ENST00000389208 human ensembl 74_37 -1 known missense c.151 p.V51M 0.764 pfam_Asp/hSer_DH_NAD-bd pfam_Asp_DH,pfam_Asp/hSer_DH_NAD-bd - no_errors ASPDH HGNC ENSG00000204653 tier1 - - 67 0 0.00 47 4 7.84 ATM 0 genome.wustl.edu 37 11 108143528 108143528 + Missense_Mutation SNP T T G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 108143528 108143528 T G SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.3233 p.L1078R 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 - - 50 0 0.00 34 6 15.00 ATP8B1 0 genome.wustl.edu 37 18 55334367 55334367 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 18 55334367 55334367 G T SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known missense c.2242 p.L748I 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B1 HGNC ENSG00000081923 tier1 - - 47 0 0.00 21 3 12.50 ATP8B2 0 genome.wustl.edu 37 1 154307045 154307045 + Missense_Mutation SNP T T G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 154307045 154307045 T G SNP ATP8B2 ENST00000368489 human ensembl 74_37 +1 known missense c.914 p.L305R 0.997 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B2 HGNC ENSG00000143515 tier1 - - 25 0 0.00 18 5 21.74 ATP9B 0 genome.wustl.edu 37 18 76936828 76936828 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 18 76936828 76936828 G A SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.794 p.R265Q 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 32 0 0.00 25 2 7.41 ATPAF1 0 genome.wustl.edu 37 1 47110925 47110925 + Missense_Mutation SNP G G C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 47110925 47110925 G C SNP ATPAF1 ENST00000576409 human ensembl 74_37 -1 known missense c.661 p.L221V 1.000 pfam_ATP11 pfam_ATP11 - no_errors ATPAF1 HGNC ENSG00000123472 tier1 - - 23 0 0.00 25 7 21.88 ATRX 0 genome.wustl.edu 37 X 76920219 76920219 + Silent SNP A A G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 X 76920219 76920219 A G SNP ATRX ENST00000373344 human ensembl 74_37 -1 known silent c.3858 p.S1286 0.991 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 - - 32 0 0.00 23 3 11.54 BAI3 0 genome.wustl.edu 37 6 69349111 69349111 + Missense_Mutation SNP G G C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 6 69349111 69349111 G C SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.544 p.E182Q 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 32 0 0.00 29 2 6.45 BRINP1 0 genome.wustl.edu 37 9 121929790 121929790 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 9 121929790 121929790 G A SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.1858 p.R620C 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 44 0 0.00 27 7 20.59 BRINP2 0 genome.wustl.edu 37 1 177250184 177250184 + Nonsense_Mutation SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 177250184 177250184 C A SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known nonsense c.1872 p.C624* 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 tier1 - - 46 0 0.00 23 12 34.29 C2 0 genome.wustl.edu 37 6 31896637 31896637 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 6 31896637 31896637 C T SNP C2 ENST00000299367 human ensembl 74_37 +1 known missense c.385 p.R129C 0.631 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pirsf_Compl_C2_B,pfscan_Sushi_SCR_CCP pfam_VWF_A,pfam_Peptidase_S1,pfam_Sushi_SCR_CCP,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1,pirsf_Compl_C2_B,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C2 HGNC ENSG00000166278 tier1 - - 35 0 0.00 55 4 6.78 C7orf34 0 genome.wustl.edu 37 7 142636712 142636712 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 7 142636712 142636712 C T SNP C7orf34 ENST00000409607 human ensembl 74_37 +1 known silent c.69 p.G23 0.531 NULL NULL - no_errors C7orf34 HGNC ENSG00000165131 23 0 0.00 32 4 11.11 C7orf55-LUC7L2 0 genome.wustl.edu 37 7 139045070 139045071 + Splice_Site INS - - AA TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 7 139045070 139045071 - AA INS C7orf55-LUC7L2 ENST00000354926 human ensembl 74_37 +1 known splice_site_ins c.61+2_61+1 e1+2 1.000:1.000 - - - no_errors C7orf55-LUC7L2 HGNC ENSG00000146963 tier1 23 0 0.00 29 6 17.14 CACNA1H 0 genome.wustl.edu 37 16 1250520 1250520 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 16 1250520 1250520 C T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known silent c.1068 p.N356 0.992 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 tier1 - - 72 0 0.00 61 12 16.00 CARNS1 0 genome.wustl.edu 37 11 67191150 67191150 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 67191150 67191150 C T SNP CARNS1 ENST00000445895 human ensembl 74_37 +1 known missense c.1931 p.A644V 0.170 pfscan_ATP-grasp superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 38 0 0.00 26 2 7.14 CCAR2 0 genome.wustl.edu 37 8 22472942 22472942 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 8 22472942 22472942 C T SNP CCAR2 ENST00000308511 human ensembl 74_37 +1 known missense c.1210 p.R404C 1.000 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 56 0 0.00 54 3 5.17 CCDC141 0 genome.wustl.edu 37 2 179914590 179914590 + Missense_Mutation SNP T T C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 2 179914590 179914590 T C SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known missense c.79 p.K27E 1.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 tier1 - - 67 0 0.00 47 4 7.84 CCDC168 0 genome.wustl.edu 37 13 103386123 103386123 + Nonsense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 13 103386123 103386123 G A SNP CCDC168 ENST00000322527 human ensembl 74_37 -1 known nonsense c.3037 p.R1013* 0.001 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 50 0 0.00 38 4 9.52 CCDC173 0 genome.wustl.edu 37 2 170502518 170502518 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 2 170502518 170502518 G T SNP CCDC173 ENST00000447353 human ensembl 74_37 -1 known missense c.1492 p.Q498K 0.994 NULL NULL - no_errors CCDC173 HGNC ENSG00000154479 tier1 - - 90 0 0.00 83 5 5.68 CCR5 0 genome.wustl.edu 37 3 46414667 46414667 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 3 46414667 46414667 G A SNP CCR5 ENST00000292303 human ensembl 74_37 +1 known missense c.274 p.A92T 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_CCR5,prints_Chemokine_CCR1,prints_ATII_rcpt - no_errors CCR5 HGNC ENSG00000160791 tier1 - - 52 0 0.00 40 4 9.09 CDH12 0 genome.wustl.edu 37 5 21760691 21760691 + Missense_Mutation SNP T T G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 5 21760691 21760691 T G SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.1609 p.N537H 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 CDH12 HGNC ENSG00000154162 tier1 - - 55 0 0.00 64 9 12.33 CDKN1C 0 genome.wustl.edu 37 11 2906386 2906386 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 2906386 2906386 C T SNP CDKN1C ENST00000414822 human ensembl 74_37 -1 known missense c.334 p.A112T 0.004 NULL pfam_CDI - no_errors CDKN1C HGNC ENSG00000129757 31 0 0.00 10 7 38.89 CDKN2A 0 genome.wustl.edu 37 9 21971119 21971119 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 9 21971119 21971119 C T SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known missense c.239 p.R80Q 0.875 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 25 0 0.00 19 3 13.64 CEBPA 0 genome.wustl.edu 37 19 33793280 33793280 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 19 33793280 33793280 G T SNP CEBPA ENST00000498907 human ensembl 74_37 -1 known missense c.41 p.P14Q 0.995 pirsf_CCAAT/enhancer-binding pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP - no_errors CEBPA HGNC ENSG00000245848 12 0 0.00 3 3 50.00 CENPI 0 genome.wustl.edu 37 X 100395679 100395679 + Nonsense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 X 100395679 100395679 G T SNP CENPI ENST00000372927 human ensembl 74_37 +1 known nonsense c.1495 p.E499* 1.000 pfam_CENP-I pfam_CENP-I - no_errors CENPI HGNC ENSG00000102384 tier1 - - 23 0 0.00 28 4 12.50 CHEK2 0 genome.wustl.edu 37 22 29130401 29130401 + Missense_Mutation SNP A A T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 22 29130401 29130401 A T SNP CHEK2 ENST00000382580 human ensembl 74_37 -1 known missense c.309 p.F103L 1.000 superfamily_SMAD_FHA_domain pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom - no_errors CHEK2 HGNC ENSG00000183765 tier1 - - 55 0 0.00 44 4 8.33 CHM 0 genome.wustl.edu 37 X 85117942 85117943 + RNA INS - - A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 X 85117942 85117943 - A INS CHM ENST00000467744 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.002 - - - no_errors CHM HGNC ENSG00000188419 tier1 35 0 0.00 35 3 7.89 CLEC17A 0 genome.wustl.edu 37 19 14720879 14720879 + Missense_Mutation SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 19 14720879 14720879 C A SNP CLEC17A ENST00000417570 human ensembl 74_37 +1 known missense c.1008 p.F336L 0.964 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC17A HGNC ENSG00000187912 tier1 - - 80 0 0.00 45 4 8.16 CNTNAP3B 0 genome.wustl.edu 37 9 43844248 43844248 + Missense_Mutation SNP T T G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 9 43844248 43844248 T G SNP CNTNAP3B ENST00000377564 human ensembl 74_37 +1 known missense c.1582 p.L528V 0.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3B HGNC ENSG00000154529 tier1 - - 101 0 0.00 74 17 18.68 COL11A2 0 genome.wustl.edu 37 6 33141688 33141688 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 6 33141688 33141688 G A SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.2545 p.R849W 1.000 pfam_Collagen 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 COL11A2 HGNC ENSG00000204248 51 0 0.00 37 2 5.00 COL4A2 0 genome.wustl.edu 37 13 111160399 111160399 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 13 111160399 111160399 C T SNP COL4A2 ENST00000360467 human ensembl 74_37 +1 known missense c.4712 p.A1571V 0.998 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 40 0 0.00 37 2 5.13 CUL1 0 genome.wustl.edu 37 7 148480983 148480983 + Splice_Site SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 7 148480983 148480983 G T SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known splice_site c.1191+1 e9+1 1.000 - - - no_errors CUL1 HGNC ENSG00000055130 tier1 - - 77 0 0.00 59 4 6.35 CUX1 0 genome.wustl.edu 37 7 101740766 101740766 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 7 101740766 101740766 G A SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known missense c.424 p.E142K 0.999 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 tier1 - - 66 0 0.00 38 9 19.15 CXXC5 0 genome.wustl.edu 37 5 139060236 139060236 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 5 139060236 139060236 C T SNP CXXC5 ENST00000302517 human ensembl 74_37 +1 known missense c.128 p.A43V 0.017 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors CXXC5 HGNC ENSG00000171604 56 0 0.00 43 4 8.51 DAGLB 0 genome.wustl.edu 37 7 6487513 6487513 + RNA SNP G G C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 7 6487513 6487513 G C SNP DAGLB ENST00000479922 human ensembl 74_37 -1 known rna NULL NULL 0.856 - - - no_errors DAGLB HGNC ENSG00000164535 tier1 - - 42 0 0.00 32 13 28.89 DCAF12 0 genome.wustl.edu 37 9 34125063 34125063 + Missense_Mutation SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 9 34125063 34125063 C A SNP DCAF12 ENST00000361264 human ensembl 74_37 -1 known missense c.291 p.W97C 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12 HGNC ENSG00000198876 20 0 0.00 22 3 12.00 DCPS 0 genome.wustl.edu 37 11 126215610 126215610 + RNA SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 126215610 126215610 G A SNP DCPS ENST00000530860 human ensembl 74_37 +1 known rna NULL NULL 0.829 - - - no_errors DCPS HGNC ENSG00000110063 tier1 - - 29 0 0.00 17 3 15.00 DDX3X 0 genome.wustl.edu 37 X 41207101 41207101 + RNA SNP T T G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 X 41207101 41207101 T G SNP DDX3X ENST00000478993 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DDX3X HGNC ENSG00000215301 tier1 - - 30 0 0.00 18 8 30.77 DDX60L 0 genome.wustl.edu 37 4 169391990 169391991 + Splice_Site INS - - A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 4 169391990 169391991 - A INS DDX60L ENST00000513901 human ensembl 74_37 -1 known splice_site_ins c.NULL NULL 0.006:0.001 - - - no_errors DDX60L HGNC ENSG00000181381 tier1 15 0 0.00 7 3 30.00 DET1 0 genome.wustl.edu 37 15 89074069 89074069 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 15 89074069 89074069 G T SNP DET1 ENST00000444300 human ensembl 74_37 -1 known missense c.901 p.P301T 0.996 pfam_De-etiolated_protein_1_Det1 pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC ENSG00000140543 45 0 0.00 27 2 6.90 DKK2 0 genome.wustl.edu 37 4 107845203 107845203 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 4 107845203 107845203 G A SNP DKK2 ENST00000285311 human ensembl 74_37 -1 novel missense c.688 p.R230C 1.000 NULL pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd - no_errors DKK2 HGNC ENSG00000155011 tier1 - - 30 0 0.00 21 10 31.25 DLEC1 0 genome.wustl.edu 37 3 38103733 38103733 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 3 38103733 38103733 C T SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known silent c.747 p.N249 0.003 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 tier1 - - 46 0 0.00 39 5 11.11 DPH6 0 genome.wustl.edu 37 15 35742931 35742931 + Missense_Mutation SNP T T C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 15 35742931 35742931 T C SNP DPH6 ENST00000256538 human ensembl 74_37 -1 known missense c.460 p.I154V 1.000 pfam_DUF71_dom,tigrfam_DUF71_dom pfam_DUF71_dom,tigrfam_DUF71_dom - no_errors DPH6 HGNC ENSG00000134146 tier1 - - 63 0 0.00 52 4 7.14 DSC1 0 genome.wustl.edu 37 18 28737381 28737381 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 18 28737381 28737381 G A SNP DSC1 ENST00000257198 human ensembl 74_37 -1 known missense c.304 p.R102W 0.000 pfam_Cadherin_pro_dom,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_pro_dom,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin/Desmocollin,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSC1 HGNC ENSG00000134765 tier1 - - 75 0 0.00 43 4 8.51 DST 0 genome.wustl.edu 37 6 56357224 56357224 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 6 56357224 56357224 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.20465 p.A6822V 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 48 0 0.00 38 2 5.00 DUOX1 0 genome.wustl.edu 37 15 45431424 45431424 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 15 45431424 45431424 G T SNP DUOX1 ENST00000561166 human ensembl 74_37 +1 known missense c.136 p.A46S 0.000 pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Recoverin - no_errors DUOX1 HGNC ENSG00000137857 tier1 - - 44 0 0.00 25 4 13.79 EBF2 0 genome.wustl.edu 37 8 25890600 25890600 + Splice_Site SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 8 25890600 25890600 C T SNP EBF2 ENST00000520164 human ensembl 74_37 -1 known splice_site c.551+1 e6+1 1.000 - - - no_errors EBF2 HGNC ENSG00000221818 tier1 - - 59 0 0.00 38 4 9.52 EFCAB1 0 genome.wustl.edu 37 8 49647756 49647756 + RNA SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 8 49647756 49647756 G A SNP EFCAB1 ENST00000521002 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EFCAB1 HGNC ENSG00000034239 tier1 - - 33 0 0.00 23 8 25.81 EIF2B5 0 genome.wustl.edu 37 3 183855472 183855472 + Nonsense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 3 183855472 183855472 C T SNP EIF2B5 ENST00000273783 human ensembl 74_37 +1 known nonsense c.385 p.R129* 1.000 NULL pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain - no_errors EIF2B5 HGNC ENSG00000145191 tier1 - - 43 0 0.00 61 6 8.96 EMR2 0 genome.wustl.edu 37 19 14875291 14875291 + Missense_Mutation SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 19 14875291 14875291 C A SNP EMR2 ENST00000315576 human ensembl 74_37 -1 known missense c.1038 p.K346N 0.002 prints_GPCR_2_CD97 pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR2 HGNC ENSG00000127507 tier1 - - 61 0 0.00 40 5 11.11 EMR3 0 genome.wustl.edu 37 19 14774282 14774282 + Silent SNP A A G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 19 14774282 14774282 A G SNP EMR3 ENST00000253673 human ensembl 74_37 -1 known silent c.147 p.Y49 0.000 smart_EG-like_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97 - no_errors EMR3 HGNC ENSG00000131355 68 0 0.00 66 4 5.71 EN1 0 genome.wustl.edu 37 2 119600674 119600674 + Missense_Mutation SNP A A T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 2 119600674 119600674 A T SNP EN1 ENST00000295206 human ensembl 74_37 -1 known missense c.1019 p.L340H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4 - no_errors EN1 HGNC ENSG00000163064 tier1 - - 54 0 0.00 46 11 19.30 ENSG00000223697 0 genome.wustl.edu 37 8 133854715 133854715 + RNA DEL T T - TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 8 133854715 133854715 T - DEL ENSG00000223697 ENST00000608375 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors AF230666.2 Clone_based_vega_gene ENSG00000223697 tier1 43 0 0.00 40 5 11.11 ENSG00000259480 0 genome.wustl.edu 37 15 23130582 23130582 + RNA SNP T T G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 15 23130582 23130582 T G SNP ENSG00000259480 ENST00000560053 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-26F2.1 Clone_based_vega_gene ENSG00000259480 tier1 - - 126 0 0.00 94 29 23.58 ENSG00000261711 0 genome.wustl.edu 37 16 34712321 34712321 + RNA SNP T T C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 16 34712321 34712321 T C SNP ENSG00000261711 ENST00000569028 human ensembl 74_37 -1 known rna NULL NULL 0.054 - - - no_errors RP11-80F22.9 Clone_based_vega_gene ENSG00000261711 tier1 - - 54 0 0.00 39 4 9.30 EPB41L1 0 genome.wustl.edu 37 20 34778674 34778674 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 20 34778674 34778674 C T SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known missense c.1255 p.R419C 1.000 pfam_FERM-adjacent,pirsf_Band_41_protein pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 tier1 - - 37 0 0.00 29 9 23.68 EPS15L1 0 genome.wustl.edu 37 19 16506198 16506198 + Missense_Mutation SNP G G C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 19 16506198 16506198 G C SNP EPS15L1 ENST00000455140 human ensembl 74_37 -1 known missense c.1872 p.D624E 1.000 NULL superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ENSG00000127527 tier1 - - 90 0 0.00 69 4 5.48 ERC2 0 genome.wustl.edu 37 3 56044601 56044601 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 3 56044601 56044601 C T SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known missense c.1796 p.R599H 1.000 pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 tier1 - - 64 0 0.00 43 9 17.31 FAM149B1 0 genome.wustl.edu 37 10 74934538 74934538 + Silent SNP A A G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 10 74934538 74934538 A G SNP FAM149B1 ENST00000242505 human ensembl 74_37 +1 known silent c.141 p.T47 0.991 NULL pfam_DUF3719 - no_errors FAM149B1 HGNC ENSG00000138286 48 0 0.00 41 4 8.89 FARSA 0 genome.wustl.edu 37 19 13041425 13041425 + Splice_Site SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 19 13041425 13041425 C T SNP FARSA ENST00000314606 human ensembl 74_37 -1 known splice_site c.285+1 e2+1 1.000 - - - no_errors FARSA HGNC ENSG00000179115 tier1 - - 50 0 0.00 25 9 26.47 FBN1 0 genome.wustl.edu 37 15 48805826 48805826 + Missense_Mutation SNP T T C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 15 48805826 48805826 T C SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.1508 p.E503G 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_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 tier1 - - 44 0 0.00 42 4 8.70 FBXL17 0 genome.wustl.edu 37 5 107521860 107521860 + Missense_Mutation SNP A A C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 5 107521860 107521860 A C SNP FBXL17 ENST00000542267 human ensembl 74_37 -1 known missense c.1703 p.L568R 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL17 HGNC ENSG00000145743 tier1 - - 100 0 0.00 67 15 18.29 FLYWCH1 0 genome.wustl.edu 37 16 2983971 2983971 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 16 2983971 2983971 G T SNP FLYWCH1 ENST00000399667 human ensembl 74_37 +1 known missense c.1504 p.G502W 0.005 NULL pfam_Znf_FLYWCH - no_errors FLYWCH1 HGNC ENSG00000059122 tier1 - - 17 0 0.00 15 4 20.00 FOXS1 0 genome.wustl.edu 37 20 30432416 30432416 + Silent SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 20 30432416 30432416 G A SNP FOXS1 ENST00000375978 human ensembl 74_37 -1 known silent c.930 p.S310 0.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXS1 HGNC ENSG00000179772 tier1 rs139927827 - 81 0 0.00 65 30 31.58 FZR1 0 genome.wustl.edu 37 19 3525874 3525874 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 19 3525874 3525874 G T SNP FZR1 ENST00000395095 human ensembl 74_37 +1 known missense c.78 p.E26D 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FZR1 HGNC ENSG00000105325 tier1 - - 49 0 0.00 58 4 6.45 GAB3 0 genome.wustl.edu 37 X 153906516 153906516 + Missense_Mutation SNP T T G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 X 153906516 153906516 T G SNP GAB3 ENST00000424127 human ensembl 74_37 -1 known missense c.1703 p.K568T 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 tier1 - - 26 0 0.00 11 12 52.17 GABBR1 0 genome.wustl.edu 37 6 29574700 29574700 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 6 29574700 29574700 C T SNP GABBR1 ENST00000377034 human ensembl 74_37 -1 known missense c.2191 p.V731M 0.994 pfam_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 tier1 - - 53 0 0.00 27 11 28.95 GALNT7 0 genome.wustl.edu 37 4 174223211 174223211 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 4 174223211 174223211 G T SNP GALNT7 ENST00000265000 human ensembl 74_37 +1 known missense c.1162 p.A388S 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT7 HGNC ENSG00000109586 tier1 - - 59 0 0.00 55 4 6.78 GLDC 0 genome.wustl.edu 37 9 6589249 6589249 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 9 6589249 6589249 G A SNP GLDC ENST00000321612 human ensembl 74_37 -1 known missense c.1526 p.P509L 0.998 tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo - no_errors GLDC HGNC ENSG00000178445 tier1 - - 46 0 0.00 29 4 12.12 GLI4 0 genome.wustl.edu 37 8 144357978 144357978 + RNA SNP C C G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 8 144357978 144357978 C G SNP GLI4 ENST00000523812 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GLI4 HGNC ENSG00000250571 tier1 - - 34 0 0.00 22 6 21.43 GOLGA3 0 genome.wustl.edu 37 12 133373178 133373178 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 12 133373178 133373178 G A SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.2047 p.R683W 0.996 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 tier1 - - 65 0 0.00 47 4 7.84 GPHA2 0 genome.wustl.edu 37 11 64702840 64702840 + Silent SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 64702840 64702840 G A SNP GPHA2 ENST00000279168 human ensembl 74_37 -1 known silent c.93 p.C31 0.989 pfam_DAN,pfscan_Cys_knot_C,pfscan_Glyco_hormone pfam_DAN,pfscan_Cys_knot_C,pfscan_Glyco_hormone - no_errors GPHA2 HGNC ENSG00000149735 tier1 - - 44 0 0.00 47 4 7.84 GPR153 0 genome.wustl.edu 37 1 6313985 6313985 + Silent SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 6313985 6313985 G A SNP GPR153 ENST00000377893 human ensembl 74_37 -1 known silent c.579 p.I193 0.983 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GCR_153/162 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR153,prints_GCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 tier1 - - 40 0 0.00 43 7 14.00 GPR158 0 genome.wustl.edu 37 10 25861813 25861813 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 10 25861813 25861813 G A SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.1750 p.V584I 0.989 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 36 0 0.00 35 9 20.45 GREB1 0 genome.wustl.edu 37 2 11758761 11758761 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 2 11758761 11758761 C T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.3760 p.R1254C 0.001 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 86 0 0.00 57 9 13.64 GRID1 0 genome.wustl.edu 37 10 87615841 87615841 + Missense_Mutation SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 10 87615841 87615841 C A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.1058 p.R353L 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 61 0 0.00 37 2 5.13 GRIN2D 0 genome.wustl.edu 37 19 48917815 48917815 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 19 48917815 48917815 C T SNP GRIN2D ENST00000263269 human ensembl 74_37 +1 known silent c.1386 p.C462 1.000 smart_Iontro_glu_rcpt 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 GRIN2D HGNC ENSG00000105464 84 0 0.00 38 4 9.52 GSTT1 0 genome.wustl.edu 37 22 24382981 24382981 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 22 24382981 24382981 C T SNP GSTT1 ENST00000418883 human ensembl 74_37 -1 known silent c.213 p.L71 0.000 NULL superfamily_Thioredoxin-like_fold - no_errors GSTT1 HGNC ENSG00000184674 tier1 - - 52 0 0.00 49 4 7.55 GTSF1L 0 genome.wustl.edu 37 20 42355079 42355079 + Nonsense_Mutation SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 20 42355079 42355079 C A SNP GTSF1L ENST00000373003 human ensembl 74_37 -1 known nonsense c.256 p.E86* 0.001 NULL pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors GTSF1L HGNC ENSG00000124196 tier1 - - 46 0 0.00 49 21 30.00 HDAC6 0 genome.wustl.edu 37 X 48676794 48676794 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 X 48676794 48676794 G A SNP HDAC6 ENST00000444343 human ensembl 74_37 +1 known missense c.2204 p.R735H 0.809 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 tier1 - - 18 0 0.00 11 6 35.29 HDC 0 genome.wustl.edu 37 15 50544900 50544900 + Silent SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 15 50544900 50544900 G T SNP HDC ENST00000267845 human ensembl 74_37 -1 known silent c.859 p.R287 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors HDC HGNC ENSG00000140287 48 0 0.00 31 3 8.82 HECW1-IT1 0 genome.wustl.edu 37 7 43157830 43157831 + RNA INS - - A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 7 43157830 43157831 - A INS HECW1-IT1 ENST00000322220 human ensembl 74_37 +1 known rna NULL NULL 0.031:0.000 - - - no_errors HECW1-IT1 HGNC ENSG00000181211 tier1 51 0 0.00 32 7 17.95 HIST2H2AC 0 genome.wustl.edu 37 1 149858858 149858858 + Missense_Mutation SNP A A T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 149858858 149858858 A T SNP HIST2H2AC ENST00000331380 human ensembl 74_37 +1 known missense c.334 p.I112F 1.000 superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AC HGNC ENSG00000184260 tier1 - - 134 0 0.00 94 24 20.34 HSP90B1 0 genome.wustl.edu 37 12 104335268 104335268 + Silent SNP A A G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 12 104335268 104335268 A G SNP HSP90B1 ENST00000299767 human ensembl 74_37 +1 known silent c.1173 p.T391 0.063 pirsf_Hsp90_fam,pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90B1 HGNC ENSG00000166598 tier1 - - 82 0 0.00 53 15 22.06 IBSP 0 genome.wustl.edu 37 4 88732640 88732640 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 4 88732640 88732640 G A SNP IBSP ENST00000226284 human ensembl 74_37 +1 known missense c.532 p.G178S 0.980 pfam_BSP_II pfam_BSP_II - no_errors IBSP HGNC ENSG00000029559 tier1 - - 40 0 0.00 23 8 25.81 ID3 0 genome.wustl.edu 37 1 23885693 23885693 + Missense_Mutation SNP G G C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 23885693 23885693 G C SNP ID3 ENST00000374561 human ensembl 74_37 -1 known missense c.225 p.D75E 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ID3 HGNC ENSG00000117318 tier1 - - 55 0 0.00 37 4 9.76 IKZF4 0 genome.wustl.edu 37 12 56428846 56428846 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 12 56428846 56428846 G A SNP IKZF4 ENST00000262032 human ensembl 74_37 +1 known missense c.1489 p.E497K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF4 HGNC ENSG00000123411 tier1 - - 43 0 0.00 23 6 20.69 IQSEC2 0 genome.wustl.edu 37 X 53279888 53279888 + Missense_Mutation SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 X 53279888 53279888 C A SNP IQSEC2 ENST00000396435 human ensembl 74_37 -1 known missense c.1870 p.D624Y 0.994 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 tier1 - - 23 0 0.00 21 4 16.00 KANK4 0 genome.wustl.edu 37 1 62732473 62732475 + In_Frame_Del DEL TTC TTC - TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 62732473 62732475 TTC - DEL KANK4 ENST00000371153 human ensembl 74_37 -1 known in_frame_del c.2250_2248 p.E750in_frame_del 0.965:0.998:1.000 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 tier1 30 0 0.00 13 3 18.75 KCND2 0 genome.wustl.edu 37 7 119914757 119914757 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 7 119914757 119914757 C T SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.71 p.S24L 1.000 pfam_Shal-type pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 tier1 - - 40 0 0.00 39 10 20.41 KCNJ16 0 genome.wustl.edu 37 17 68128730 68128730 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 17 68128730 68128730 G T SNP KCNJ16 ENST00000283936 human ensembl 74_37 +1 known missense c.502 p.A168S 0.999 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir - no_errors KCNJ16 HGNC ENSG00000153822 tier1 - - 62 0 0.00 43 8 15.69 KCNQ5 0 genome.wustl.edu 37 6 73332285 73332285 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 6 73332285 73332285 G A SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.368 p.R123H 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 tier1 - - 70 0 0.00 56 12 17.65 KIAA0922 0 genome.wustl.edu 37 4 154541996 154541996 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 4 154541996 154541996 G T SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known missense c.3656 p.R1219I 1.000 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 tier1 - - 72 0 0.00 53 4 7.02 KIAA1033 0 genome.wustl.edu 37 12 105558045 105558045 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 12 105558045 105558045 C T SNP KIAA1033 ENST00000332180 human ensembl 74_37 +1 known missense c.3314 p.T1105I 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 tier1 - - 33 0 0.00 26 9 25.00 KIAA1324L 0 genome.wustl.edu 37 7 86541502 86541502 + Missense_Mutation SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 7 86541502 86541502 C A SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known missense c.2055 p.L685F 1.000 superfamily_Man6P_isomerase_rcpt-bd_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 tier1 - - 26 0 0.00 34 9 20.93 KIAA1614 0 genome.wustl.edu 37 1 180914462 180914462 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 180914462 180914462 G A SNP KIAA1614 ENST00000367588 human ensembl 74_37 +1 known missense c.3311 p.R1104H 0.917 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 tier1 - - 52 0 0.00 35 11 23.91 KIAA1683 0 genome.wustl.edu 37 19 18368166 18368166 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 19 18368166 18368166 C T SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known missense c.3928 p.A1310T 0.006 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 tier1 rs138028745 - 41 0 0.00 21 9 30.00 KIF20A 0 genome.wustl.edu 37 5 137522914 137522914 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 5 137522914 137522914 C T SNP KIF20A ENST00000394894 human ensembl 74_37 +1 known missense c.2485 p.R829C 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20A HGNC ENSG00000112984 tier1 - - 23 0 0.00 15 7 31.82 KIF3A 0 genome.wustl.edu 37 5 132039180 132039180 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 5 132039180 132039180 G A SNP KIF3A ENST00000378735 human ensembl 74_37 -1 known missense c.1369 p.R457W 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF3A HGNC ENSG00000131437 tier1 - - 30 0 0.00 13 5 27.78 KLHL32 0 genome.wustl.edu 37 6 97423985 97423985 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 6 97423985 97423985 C T SNP KLHL32 ENST00000369261 human ensembl 74_37 +1 known silent c.136 p.L46 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_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 49 0 0.00 32 2 5.88 LINC00174 0 genome.wustl.edu 37 7 65842331 65842331 + RNA SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 7 65842331 65842331 C A SNP LINC00174 ENST00000421767 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors LINC00174 HGNC ENSG00000179406 tier1 - - 23 0 0.00 27 4 12.90 LINC00305 0 genome.wustl.edu 37 18 61747618 61747618 + RNA SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 18 61747618 61747618 G T SNP LINC00305 ENST00000323355 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00305 HGNC ENSG00000179676 tier1 - - 48 0 0.00 68 4 5.56 LINC00477 0 genome.wustl.edu 37 12 24736553 24736553 + RNA SNP T T C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 12 24736553 24736553 T C SNP LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.389 - - - no_errors LINC00477 HGNC ENSG00000197503 tier1 - - 44 0 0.00 46 9 16.36 LOC101930284 0 genome.wustl.edu 37 1 143230236 143230236 + RNA SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 143230236 143230236 C A SNP LOC101930284 ENST00000427309 human ensembl 74_37 -1 known rna NULL NULL 0.204 - - - no_errors RP11-782C8.5 Clone_based_vega_gene ENSG00000225278 tier1 - - 29 0 0.00 28 4 12.50 LOXHD1 0 genome.wustl.edu 37 18 44109156 44109156 + Missense_Mutation SNP T T C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 18 44109156 44109156 T C SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known missense c.4514 p.K1505R 1.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 tier1 - - 55 0 0.00 30 5 14.29 LOXL2 0 genome.wustl.edu 37 8 23167424 23167424 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 8 23167424 23167424 G A SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known missense c.1637 p.T546I 0.999 superfamily_Srcr_rcpt-rel pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 45 0 0.00 32 6 15.38 LRP1B 0 genome.wustl.edu 37 2 141598614 141598614 + Missense_Mutation SNP A A C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 2 141598614 141598614 A C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.4987 p.L1663V 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 86 0 0.00 50 14 21.88 LRRC16A 0 genome.wustl.edu 37 6 25606315 25606315 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 6 25606315 25606315 G A SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel missense c.3661 p.E1221K 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 tier1 - - 61 0 0.00 54 4 6.90 LRRC49 0 genome.wustl.edu 37 15 71329574 71329574 + Missense_Mutation SNP A A T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 15 71329574 71329574 A T SNP LRRC49 ENST00000260382 human ensembl 74_37 +1 known missense c.1760 p.N587I 0.011 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC49 HGNC ENSG00000137821 32 0 0.00 19 2 9.52 LRRC7 0 genome.wustl.edu 37 1 70226051 70226051 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 70226051 70226051 C T SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.164 p.A55V 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 tier1 - - 49 0 0.00 38 4 9.52 LRRIQ1 0 genome.wustl.edu 37 12 85517961 85517961 + Missense_Mutation SNP A A G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 12 85517961 85517961 A G SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.3671 p.K1224R 0.012 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 39 0 0.00 28 10 26.32 LRTM1 0 genome.wustl.edu 37 3 54958762 54958762 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 3 54958762 54958762 C T SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.488 p.R163Q 0.945 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 tier1 - - 47 0 0.00 26 3 10.34 LYST 0 genome.wustl.edu 37 1 235976294 235976294 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 235976294 235976294 G A SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.260 p.P87L 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 39 0 0.00 28 2 6.67 MAML3 0 genome.wustl.edu 37 4 140811108 140811108 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 4 140811108 140811108 C T SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known silent c.1482 p.Q494 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 tier1 - - 26 0 0.00 21 4 16.00 MAN1B1 0 genome.wustl.edu 37 9 139992307 139992307 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 9 139992307 139992307 G T SNP MAN1B1 ENST00000371589 human ensembl 74_37 +1 known missense c.648 p.E216D 0.988 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1B1 HGNC ENSG00000177239 tier1 - - 54 0 0.00 64 4 5.88 MANEA 0 genome.wustl.edu 37 6 96044722 96044722 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 6 96044722 96044722 G T SNP MANEA ENST00000358812 human ensembl 74_37 +1 known missense c.654 p.K218N 1.000 superfamily_Glycoside_hydrolase_SF superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 33 0 0.00 35 2 5.41 MAP2 0 genome.wustl.edu 37 2 210557839 210557839 + Silent SNP T T C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 2 210557839 210557839 T C SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.945 p.S315 0.997 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 43 0 0.00 27 9 25.00 MAP3K7 0 genome.wustl.edu 37 6 91261851 91261851 + Missense_Mutation SNP G G C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 6 91261851 91261851 G C SNP MAP3K7 ENST00000369329 human ensembl 74_37 -1 known missense c.784 p.L262V 1.000 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 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 - - 63 0 0.00 58 6 9.38 MAPRE2 0 genome.wustl.edu 37 18 32682021 32682021 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 18 32682021 32682021 G T SNP MAPRE2 ENST00000300249 human ensembl 74_37 +1 known missense c.508 p.V170L 0.993 superfamily_CH-domain pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain - no_errors MAPRE2 HGNC ENSG00000166974 70 0 0.00 38 3 7.32 MDN1 0 genome.wustl.edu 37 6 90440489 90440489 + Missense_Mutation SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 6 90440489 90440489 C A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.5096 p.G1699V 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 - - 71 0 0.00 45 4 8.16 MEGF8 0 genome.wustl.edu 37 19 42855402 42855402 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 19 42855402 42855402 G A SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.2771 p.R924H 1.000 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 87 0 0.00 52 4 7.14 METTL13 0 genome.wustl.edu 37 1 171753485 171753485 + Silent SNP C C G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 171753485 171753485 C G SNP METTL13 ENST00000361735 human ensembl 74_37 +1 known silent c.759 p.A253 1.000 NULL pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 tier1 - - 44 0 0.00 34 12 26.09 MICA 0 genome.wustl.edu 37 6 31379008 31379008 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 6 31379008 31379008 C T SNP MICA ENST00000449934 human ensembl 74_37 +1 known missense c.485 p.A162V 0.001 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors MICA HGNC ENSG00000204520 tier1 - - 37 0 0.00 35 6 14.63 MLLT4 0 genome.wustl.edu 37 6 168265353 168265353 + Silent SNP G G C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 6 168265353 168265353 G C SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known silent c.228 p.A76 0.009 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 76 0 0.00 56 3 5.08 MS4A14 0 genome.wustl.edu 37 11 60164185 60164185 + Missense_Mutation SNP T T C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 60164185 60164185 T C SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.134 p.L45S 0.715 pfam_CD20-like pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 59 0 0.00 60 4 6.25 MT-ND4L 0 genome.wustl.edu 37 MT 10670 10670 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 MT 10670 10670 C T SNP MT-ND4L ENST00000361335 human ensembl 74_37 +1 known silent c.201 p.A67 NULL pfam_NADH_UbQ_OxRdtase_chain4L/K pfam_NADH_UbQ_OxRdtase_chain4L/K - no_errors MT-ND4L HGNC ENSG00000212907 tier1 - - 33 0 0.00 12 2 14.29 MT1H 0 genome.wustl.edu 37 16 56703817 56703817 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 16 56703817 56703817 C T SNP MT1H ENST00000332374 human ensembl 74_37 +1 known silent c.21 p.C7 0.025 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1H HGNC ENSG00000205358 tier1 - - 92 0 0.00 97 6 5.83 MUC5B 0 genome.wustl.edu 37 11 1280192 1280192 + Silent SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 1280192 1280192 C A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.16623 p.G5541 0.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C 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 - - 59 0 0.00 21 11 34.38 MYPN 0 genome.wustl.edu 37 10 69881426 69881426 + Missense_Mutation SNP T T A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 10 69881426 69881426 T A SNP MYPN ENST00000358913 human ensembl 74_37 +1 known missense c.231 p.N77K 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 tier1 - - 61 0 0.00 42 4 8.70 NACAD 0 genome.wustl.edu 37 7 45122736 45122736 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 7 45122736 45122736 C T SNP NACAD ENST00000490531 human ensembl 74_37 -1 known missense c.3043 p.A1015T 0.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACAD HGNC ENSG00000136274 tier1 - - 33 0 0.00 12 3 20.00 NAP1L3 0 genome.wustl.edu 37 X 92926986 92926986 + Missense_Mutation SNP A A G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 X 92926986 92926986 A G SNP NAP1L3 ENST00000373079 human ensembl 74_37 -1 known missense c.1318 p.F440L 1.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 tier1 - - 34 0 0.00 14 6 30.00 NBEA 0 genome.wustl.edu 37 13 35730247 35730248 + Frame_Shift_Ins INS - - A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 13 35730247 35730248 0 A INS NBEA ENST00000310336 human ensembl 74_37 +1 known frame_shift_ins c.2555_2556 p.N854fs 1.000:1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 51 0 0.00 78 7 8.24 NCOA6 0 genome.wustl.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 20 33345744 33345744 C T SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known silent c.807 p.Q269 0.002 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 46 0 0.00 68 4 5.56 NELL2 0 genome.wustl.edu 37 12 44913815 44913815 + Silent SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 12 44913815 44913815 G T SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known silent c.2523 p.G841 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 tier1 - - 44 0 0.00 33 4 10.81 NMNAT2 0 genome.wustl.edu 37 1 183221791 183221791 + Silent SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 183221791 183221791 G T SNP NMNAT2 ENST00000287713 human ensembl 74_37 -1 known silent c.909 p.I303 1.000 NULL pfam_Cyt_trans-like - no_errors NMNAT2 HGNC ENSG00000157064 tier1 - - 69 0 0.00 64 4 5.80 NMNAT2 0 genome.wustl.edu 37 1 183387334 183387334 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 183387334 183387334 C T SNP NMNAT2 ENST00000287713 human ensembl 74_37 -1 known silent c.69 p.G23 0.999 pfam_Cyt_trans-like pfam_Cyt_trans-like - no_errors NMNAT2 HGNC ENSG00000157064 tier1 - - 44 0 0.00 37 8 17.78 NOM1 0 genome.wustl.edu 37 7 156752836 156752836 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 7 156752836 156752836 G T SNP NOM1 ENST00000275820 human ensembl 74_37 +1 known missense c.1600 p.G534W 0.013 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors NOM1 HGNC ENSG00000146909 70 0 0.00 49 3 5.77 NRP2 0 genome.wustl.edu 37 2 206592644 206592644 + Silent SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 2 206592644 206592644 G T SNP NRP2 ENST00000360409 human ensembl 74_37 +1 known silent c.1020 p.T340 0.005 pirsf_Neuropilin,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 pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 30 0 0.00 34 2 5.56 OPHN1 0 genome.wustl.edu 37 X 67273604 67273604 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 X 67273604 67273604 G T SNP OPHN1 ENST00000355520 human ensembl 74_37 -1 known missense c.2207 p.T736N 0.996 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 36 0 0.00 55 4 6.67 OR10H5 0 genome.wustl.edu 37 19 15905096 15905096 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 19 15905096 15905096 C T SNP OR10H5 ENST00000308940 human ensembl 74_37 +1 known missense c.238 p.R80C 0.079 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 OR10H5 HGNC ENSG00000172519 tier1 rs142693914 - 73 0 0.00 62 11 15.07 OR2Y1 0 genome.wustl.edu 37 5 180166493 180166493 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 5 180166493 180166493 G A SNP OR2Y1 ENST00000307832 human ensembl 74_37 -1 known missense c.566 p.A189V 0.000 pfam_GPCR_Rhodpsn,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 OR2Y1 HGNC ENSG00000174339 25 0 0.00 17 2 10.53 OR4A16 0 genome.wustl.edu 37 11 55111323 55111323 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 55111323 55111323 G T SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known missense c.647 p.C216F 0.637 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 50 0 0.00 25 2 7.41 OR4C12 0 genome.wustl.edu 37 11 50003816 50003816 + Silent SNP A A G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 50003816 50003816 A G SNP OR4C12 ENST00000335238 human ensembl 74_37 -1 known silent c.222 p.S74 0.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4C12 HGNC ENSG00000221954 tier1 - - 77 0 0.00 61 19 23.75 OR4C6 0 genome.wustl.edu 37 11 55432669 55432669 + Missense_Mutation SNP A A C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 55432669 55432669 A C SNP OR4C6 ENST00000314259 human ensembl 74_37 +1 known missense c.27 p.E9D 0.975 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C6 HGNC ENSG00000181903 tier1 - - 31 0 0.00 10 3 23.08 OR51M1 0 genome.wustl.edu 37 11 5411357 5411357 + Missense_Mutation SNP A A C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 5411357 5411357 A C SNP OR51M1 ENST00000328611 human ensembl 74_37 +1 known missense c.729 p.Q243H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51M1 HGNC ENSG00000184698 tier1 - - 47 0 0.00 39 5 11.36 OR52I2 0 genome.wustl.edu 37 11 4608198 4608198 + Silent SNP T T G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 4608198 4608198 T G SNP OR52I2 ENST00000312614 human ensembl 74_37 +1 known silent c.156 p.S52 0.078 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52I2 HGNC ENSG00000226288 tier1 - - 77 0 0.00 42 11 20.75 OR52N2 0 genome.wustl.edu 37 11 5841919 5841919 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 5841919 5841919 G A SNP OR52N2 ENST00000317037 human ensembl 74_37 +1 known missense c.354 p.M118I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52N2 HGNC ENSG00000180988 49 0 0.00 27 2 6.67 OR5W2 0 genome.wustl.edu 37 11 55681987 55681987 + Missense_Mutation SNP T T G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 55681987 55681987 T G SNP OR5W2 ENST00000344514 human ensembl 74_37 -1 known missense c.72 p.K24N 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5W2 HGNC ENSG00000187612 tier1 - - 58 0 0.00 47 8 14.55 OR8H1 0 genome.wustl.edu 37 11 56058343 56058343 + Missense_Mutation SNP A A C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 56058343 56058343 A C SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known missense c.196 p.L66V 0.046 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 OR8H1 HGNC ENSG00000181693 tier1 - - 81 0 0.00 50 13 20.63 OR8K5 0 genome.wustl.edu 37 11 55927568 55927568 + Missense_Mutation SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 55927568 55927568 C A SNP OR8K5 ENST00000313447 human ensembl 74_37 -1 known missense c.226 p.V76F 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K5 HGNC ENSG00000181752 tier1 - - 43 0 0.00 38 7 15.56 OSBPL3 0 genome.wustl.edu 37 7 24874153 24874153 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 7 24874153 24874153 G T SNP OSBPL3 ENST00000313367 human ensembl 74_37 -1 known missense c.1698 p.S566R 0.989 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 49 0 0.00 44 3 6.38 PAQR5 0 genome.wustl.edu 37 15 69652441 69652441 + Missense_Mutation SNP A A G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 15 69652441 69652441 A G SNP PAQR5 ENST00000340965 human ensembl 74_37 +1 known missense c.22 p.R8G 1.000 NULL pfam_HlyIII-related - no_errors PAQR5 HGNC ENSG00000137819 tier1 - - 33 0 0.00 45 4 8.16 PARD3B 0 genome.wustl.edu 37 2 206036969 206036969 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 2 206036969 206036969 C T SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known missense c.1655 p.A552V 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 68 0 0.00 63 4 5.97 PART1 0 genome.wustl.edu 37 5 59783742 59783743 + RNA INS - - A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 5 59783742 59783743 - A INS PART1 ENST00000515734 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.033 - - - no_errors PART1 HGNC ENSG00000152931 tier1 21 0 0.00 21 4 16.00 PAXIP1 0 genome.wustl.edu 37 7 154760609 154760611 + In_Frame_Del DEL CTG CTG - TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 7 154760609 154760611 CTG - DEL PAXIP1 ENST00000397192 human ensembl 74_37 -1 known in_frame_del c.1302_1300 p.Q434in_frame_del 0.998:0.998:0.999 NULL pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 tier1 31 0 0.00 36 5 12.20 PCDHA5 0 genome.wustl.edu 37 5 140203227 140203227 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 5 140203227 140203227 G A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known missense c.1867 p.V623M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 tier1 rs138093911 - 136 0 0.00 105 16 13.11 PCDHB6 0 genome.wustl.edu 37 5 140530327 140530327 + Missense_Mutation SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 5 140530327 140530327 C A SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.489 p.S163R 0.958 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 PCDHB6 HGNC ENSG00000113211 tier1 - - 34 0 0.00 52 4 7.14 PCM1 0 genome.wustl.edu 37 8 17868164 17868164 + Missense_Mutation SNP A A G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 8 17868164 17868164 A G SNP PCM1 ENST00000325083 human ensembl 74_37 +1 known missense c.5207 p.D1736G 1.000 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 tier1 - - 50 0 0.00 44 4 8.33 PCSK9 0 genome.wustl.edu 37 1 55523165 55523165 + Silent SNP A A G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 55523165 55523165 A G SNP PCSK9 ENST00000302118 human ensembl 74_37 +1 known silent c.1158 p.S386 0.040 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel pfam_Peptidase_S8/S53_dom,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK9 HGNC ENSG00000169174 tier1 - - 41 0 0.00 47 4 7.84 PDHA2 0 genome.wustl.edu 37 4 96762002 96762002 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 4 96762002 96762002 C T SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known missense c.701 p.A234V 0.999 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 tier1 rs201115909 - 64 0 0.00 50 4 7.41 PDZRN4 0 genome.wustl.edu 37 12 41585273 41585273 + Missense_Mutation SNP A A C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 12 41585273 41585273 A C SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known missense c.662 p.K221T 0.969 superfamily_PDZ pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 tier1 - - 31 0 0.00 27 11 28.95 PGGT1B 0 genome.wustl.edu 37 5 114557680 114557680 + Silent SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 5 114557680 114557680 G T SNP PGGT1B ENST00000419445 human ensembl 74_37 -1 known silent c.684 p.A228 0.891 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors PGGT1B HGNC ENSG00000164219 tier1 - - 54 0 0.00 32 3 8.57 PIK3R5 0 genome.wustl.edu 37 17 8791758 8791758 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 17 8791758 8791758 G A SNP PIK3R5 ENST00000447110 human ensembl 74_37 -1 known missense c.1346 p.T449M 0.001 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 tier1 - - 66 0 0.00 34 7 17.07 PKD2 0 genome.wustl.edu 37 4 88929174 88929176 + In_Frame_Del DEL GAG GAG - TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 4 88929174 88929176 GAG - DEL PKD2 ENST00000237596 human ensembl 74_37 +1 known in_frame_del c.289_291 p.E100in_frame_del 1.000:1.000:1.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 tier1 33 0 0.00 22 4 15.38 PKDREJ 0 genome.wustl.edu 37 22 46656747 46656747 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 22 46656747 46656747 G T SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.2473 p.Q825K 0.000 pfscan_REJ-like pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 60 0 0.00 47 4 7.84 PLEKHA7 0 genome.wustl.edu 37 11 16877392 16877392 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 16877392 16877392 C T SNP PLEKHA7 ENST00000448080 human ensembl 74_37 -1 known silent c.375 p.T125 0.029 NULL pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA7 HGNC ENSG00000166689 tier1 rs145257579 - 51 0 0.00 31 9 22.50 PLEKHB2 0 genome.wustl.edu 37 2 131904337 131904337 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 2 131904337 131904337 G T SNP PLEKHB2 ENST00000403716 human ensembl 74_37 +1 known missense c.660 p.W220C 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHB2 HGNC ENSG00000115762 tier1 - - 68 0 0.00 46 4 8.00 PLXNA2 0 genome.wustl.edu 37 1 208217905 208217905 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 208217905 208217905 C T SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known silent c.3822 p.L1274 0.988 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 tier1 - - 46 0 0.00 34 4 10.53 POSTN 0 genome.wustl.edu 37 13 38151912 38151912 + Silent SNP T T C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 13 38151912 38151912 T C SNP POSTN ENST00000379747 human ensembl 74_37 -1 known silent c.1986 p.K662 1.000 pirsf_TGFb-ind_bIGH3/osteoblast_fac2 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 tier1 - - 135 0 0.00 71 12 14.46 POTEH 0 genome.wustl.edu 37 22 16279279 16279279 + Missense_Mutation SNP A A C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 22 16279279 16279279 A C SNP POTEH ENST00000343518 human ensembl 74_37 -1 known missense c.944 p.L315R 0.103 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 - - 763 0 0.00 601 41 6.39 PPP1R15A 0 genome.wustl.edu 37 19 49379107 49379107 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 19 49379107 49379107 G T SNP PPP1R15A ENST00000200453 human ensembl 74_37 +1 known missense c.1902 p.L634F 0.000 NULL pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15A HGNC ENSG00000087074 tier1 - - 48 0 0.00 38 4 9.52 PPP1R21 0 genome.wustl.edu 37 2 48737157 48737157 + Nonsense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 2 48737157 48737157 C T SNP PPP1R21 ENST00000294952 human ensembl 74_37 +1 known nonsense c.2089 p.R697* 1.000 pfam_KLRAQ/TTKRSYEDQ_C pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF - no_errors PPP1R21 HGNC ENSG00000162869 tier1 - - 32 0 0.00 29 5 14.71 PPP1R9A 0 genome.wustl.edu 37 7 94881072 94881072 + Splice_Site SNP A A C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 7 94881072 94881072 A C SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known splice_site c.2331-2 e9-2 1.000 - - - no_errors PPP1R9A HGNC ENSG00000158528 tier1 - - 62 0 0.00 45 15 25.00 PRF1 0 genome.wustl.edu 37 10 72358125 72358125 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 10 72358125 72358125 C T SNP PRF1 ENST00000373209 human ensembl 74_37 -1 known missense c.1352 p.S451N 0.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom - no_errors PRF1 HGNC ENSG00000180644 tier1 - - 52 0 0.00 32 5 13.51 PRIM2 0 genome.wustl.edu 37 6 57512786 57512787 + RNA INS - - GC TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 6 57512786 57512787 - GC INS PRIM2 ENST00000389488 human ensembl 74_37 +1 known rna NULL NULL 0.067:0.057 - - - no_errors PRIM2 HGNC ENSG00000146143 tier1 35 0 0.00 16 3 15.79 PROKR1 0 genome.wustl.edu 37 2 68882627 68882627 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 2 68882627 68882627 C T SNP PROKR1 ENST00000303786 human ensembl 74_37 +1 known silent c.1101 p.G367 0.014 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR1 HGNC ENSG00000169618 25 0 0.00 26 2 7.14 PROKR2 0 genome.wustl.edu 37 20 5294744 5294744 + Missense_Mutation SNP A A T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 20 5294744 5294744 A T SNP PROKR2 ENST00000217270 human ensembl 74_37 -1 known missense c.272 p.L91H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 tier1 - - 79 0 0.00 60 4 6.25 PSD2 0 genome.wustl.edu 37 5 139219650 139219650 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 5 139219650 139219650 G T SNP PSD2 ENST00000274710 human ensembl 74_37 +1 known missense c.2007 p.Q669H 1.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 tier1 - - 39 0 0.00 32 4 11.11 PTBP3 0 genome.wustl.edu 37 9 115038236 115038236 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 9 115038236 115038236 C T SNP PTBP3 ENST00000458258 human ensembl 74_37 -1 known missense c.194 p.R65H 1.000 pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP3 HGNC ENSG00000119314 tier1 - - 100 0 0.00 107 6 5.31 PTPN13 0 genome.wustl.edu 37 4 87687596 87687596 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 4 87687596 87687596 C T SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known silent c.4270 p.L1424 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 tier1 - - 50 0 0.00 45 4 8.16 PURG 0 genome.wustl.edu 37 8 30890164 30890164 + Silent SNP T T A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 8 30890164 30890164 T A SNP PURG ENST00000475541 human ensembl 74_37 -1 known silent c.135 p.S45 0.327 NULL pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURG HGNC ENSG00000172733 49 0 0.00 51 4 7.27 RAB4B 0 genome.wustl.edu 37 19 41289869 41289869 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 19 41289869 41289869 C T SNP RAB4B ENST00000357052 human ensembl 74_37 +1 known missense c.319 p.R107C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB4B HGNC ENSG00000167578 tier1 - - 93 0 0.00 51 18 26.09 RAD51AP2 0 genome.wustl.edu 37 2 17697366 17697366 + Missense_Mutation SNP T T C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 2 17697366 17697366 T C SNP RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known missense c.2317 p.K773E 0.000 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 tier1 - - 68 0 0.00 42 10 19.23 RASAL2 0 genome.wustl.edu 37 1 178269224 178269224 + Missense_Mutation SNP A A G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 178269224 178269224 A G SNP RASAL2 ENST00000367649 human ensembl 74_37 +1 known missense c.428 p.E143G 0.999 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 tier1 - - 57 0 0.00 44 4 8.33 RASGRF1 0 genome.wustl.edu 37 15 79341902 79341902 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 15 79341902 79341902 C T SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.560 p.R187H 0.994 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 31 0 0.00 28 3 9.68 RBM26 0 genome.wustl.edu 37 13 79943032 79943032 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 13 79943032 79943032 G T SNP RBM26 ENST00000438724 human ensembl 74_37 -1 known missense c.728 p.S243Y 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 tier1 - - 94 0 0.00 64 4 5.88 RIMS2 0 genome.wustl.edu 37 8 104897916 104897916 + Silent SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 8 104897916 104897916 G A SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1089 p.R363 0.998 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 58 0 0.00 40 4 9.09 RNF10 0 genome.wustl.edu 37 12 120995414 120995414 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 12 120995414 120995414 G A SNP RNF10 ENST00000413266 human ensembl 74_37 +1 known missense c.896 p.R299K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF10 HGNC ENSG00000022840 tier1 - - 46 0 0.00 18 6 25.00 RNF213 0 genome.wustl.edu 37 17 78272202 78272202 + Silent SNP G G C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 17 78272202 78272202 G C SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.2094 p.L698 0.991 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 28 0 0.00 34 2 5.56 RNFT2 0 genome.wustl.edu 37 12 117289626 117289626 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 12 117289626 117289626 C T SNP RNFT2 ENST00000319176 human ensembl 74_37 +1 putative silent c.843 p.P281 0.068 NULL NULL - no_errors RNFT2 HGNC ENSG00000135119 tier1 - - 86 0 0.00 66 4 5.71 RORA 0 genome.wustl.edu 37 15 60792129 60792129 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 15 60792129 60792129 G T SNP RORA ENST00000261523 human ensembl 74_37 -1 known missense c.1468 p.L490I 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core 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_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORA HGNC ENSG00000069667 55 0 0.00 60 4 6.25 RP1L1 0 genome.wustl.edu 37 8 10480591 10480591 + Nonsense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 8 10480591 10480591 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known nonsense c.121 p.R41* 1.000 smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 53 0 0.00 35 7 16.67 RPA2 0 genome.wustl.edu 37 1 28240737 28240737 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 28240737 28240737 G A SNP RPA2 ENST00000313433 human ensembl 74_37 -1 known missense c.218 p.A73V 0.000 NULL pfam_RPA_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold - no_errors RPA2 HGNC ENSG00000117748 tier1 - - 94 0 0.00 68 4 5.56 RPAP2 0 genome.wustl.edu 37 1 92846361 92846361 + Missense_Mutation SNP A A T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 92846361 92846361 A T SNP RPAP2 ENST00000610020 human ensembl 74_37 +1 known missense c.1769 p.E590V 1.000 NULL pfam_DUF408 - no_errors RPAP2 HGNC ENSG00000122484 tier1 - - 83 0 0.00 58 13 18.31 RPAP3 0 genome.wustl.edu 37 12 48090064 48090064 + Silent SNP C C G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 12 48090064 48090064 C G SNP RPAP3 ENST00000005386 human ensembl 74_37 -1 known silent c.540 p.L180 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors RPAP3 HGNC ENSG00000005175 59 0 0.00 66 4 5.71 RPL31 0 genome.wustl.edu 37 2 101622446 101622446 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 2 101622446 101622446 C T SNP RPL31 ENST00000264258 human ensembl 74_37 +1 known missense c.259 p.R87W 1.000 pfam_Ribosomal_L31e,superfamily_Ribosomal_L31e_dom pfam_Ribosomal_L31e,superfamily_Ribosomal_L31e_dom - no_errors RPL31 HGNC ENSG00000071082 tier1 - - 35 0 0.00 25 4 13.79 RRP12 0 genome.wustl.edu 37 10 99129214 99129214 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 10 99129214 99129214 C T SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known missense c.2923 p.V975M 0.001 superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 20 0 0.00 29 4 12.12 RTTN 0 genome.wustl.edu 37 18 67753884 67753884 + Missense_Mutation SNP T T A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 18 67753884 67753884 T A SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.4339 p.M1447L 1.000 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 tier1 - - 75 0 0.00 52 4 7.14 RYR3 0 genome.wustl.edu 37 15 33988632 33988632 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 15 33988632 33988632 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.6074 p.R2025H 1.000 pfam_Ca-rel_channel pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 43 0 0.00 26 2 7.14 SCN5A 0 genome.wustl.edu 37 3 38651309 38651309 + Missense_Mutation SNP A A C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 3 38651309 38651309 A C SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.850 p.F284V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 tier1 - - 36 0 0.00 35 5 12.50 SEC23B 0 genome.wustl.edu 37 20 18511355 18511355 + Missense_Mutation SNP A A T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 20 18511355 18511355 A T SNP SEC23B ENST00000262544 human ensembl 74_37 +1 known missense c.1141 p.T381S 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC ENSG00000101310 76 0 0.00 57 3 5.00 SEC31A 0 genome.wustl.edu 37 4 83745770 83745770 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 4 83745770 83745770 G T SNP SEC31A ENST00000432794 human ensembl 74_37 -1 known missense c.3388 p.L1130I 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 tier1 - - 70 0 0.00 56 5 8.20 SEC61A2 0 genome.wustl.edu 37 10 12185143 12185143 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 10 12185143 12185143 G T SNP SEC61A2 ENST00000298428 human ensembl 74_37 +1 known missense c.169 p.D57Y 1.000 pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A2 HGNC ENSG00000065665 60 0 0.00 60 4 6.25 SELENBP1 0 genome.wustl.edu 37 1 151338125 151338125 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 151338125 151338125 G A SNP SELENBP1 ENST00000426705 human ensembl 74_37 -1 known missense c.1084 p.R362C 1.000 pfam_Se-bd pfam_Se-bd - no_errors SELENBP1 HGNC ENSG00000143416 tier1 - - 43 0 0.00 27 9 25.00 SGOL2 0 genome.wustl.edu 37 2 201399805 201399805 + Silent SNP A A C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 2 201399805 201399805 A C SNP SGOL2 ENST00000357799 human ensembl 74_37 +1 known silent c.220 p.R74 1.000 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 tier1 - - 97 0 0.00 59 19 24.36 SH2B3 0 genome.wustl.edu 37 12 111885533 111885533 + Missense_Mutation SNP T T A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 12 111885533 111885533 T A SNP SH2B3 ENST00000341259 human ensembl 74_37 +1 putative missense c.1310 p.M437K 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Phe_ZIP,pfam_SH2,pfam_Pleckstrin_homology,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B3 HGNC ENSG00000111252 tier1 - - 41 0 0.00 22 10 31.25 SH3BP1 0 genome.wustl.edu 37 22 38061636 38061636 + Missense_Mutation SNP T T C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 22 38061636 38061636 T C SNP SH3BP1 ENST00000599616 human ensembl 74_37 +1 known missense c.1576 p.Y526H 1.000 superfamily_HAD-like_dom pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,superfamily_HAD-like_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 tier1 - - 46 0 0.00 43 4 8.51 SIPA1L1 0 genome.wustl.edu 37 14 72090894 72090894 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 14 72090894 72090894 C T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.1759 p.R587W 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 tier1 - - 47 0 0.00 43 7 14.00 SIRPA 0 genome.wustl.edu 37 20 1896101 1896101 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 20 1896101 1896101 G A SNP SIRPA ENST00000400068 human ensembl 74_37 +1 known missense c.436 p.A146T 0.976 NULL pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPA HGNC ENSG00000198053 tier1 - - 55 0 0.00 37 7 15.91 SIRT5 0 genome.wustl.edu 37 6 13595764 13595764 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 6 13595764 13595764 G T SNP SIRT5 ENST00000606117 human ensembl 74_37 +1 known missense c.531 p.K177N 1.000 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT5 HGNC ENSG00000124523 tier1 - - 45 0 0.00 51 4 7.27 SLC30A8 0 genome.wustl.edu 37 8 118159330 118159330 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 8 118159330 118159330 C T SNP SLC30A8 ENST00000456015 human ensembl 74_37 +1 known missense c.209 p.A70V 1.000 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A8 HGNC ENSG00000164756 36 0 0.00 37 2 5.13 SLC39A12 0 genome.wustl.edu 37 10 18276412 18276412 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 10 18276412 18276412 C T SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known silent c.1101 p.Y367 1.000 NULL pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 32 0 0.00 35 2 5.41 SLC4A4 0 genome.wustl.edu 37 4 72425833 72425833 + Frame_Shift_Del DEL A A - TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 4 72425833 72425833 A - DEL SLC4A4 ENST00000425175 human ensembl 74_37 +1 known frame_shift_del c.2961 p.G989fs 1.000 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 tier1 41 0 0.00 33 3 8.33 SLC6A10P 0 genome.wustl.edu 37 16 32896410 32896410 + RNA SNP G G C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 16 32896410 32896410 G C SNP SLC6A10P ENST00000330048 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors SLC6A10P HGNC ENSG00000214617 tier1 - - 14 0 0.00 11 6 35.29 SLC6A5 0 genome.wustl.edu 37 11 20628637 20628637 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 20628637 20628637 C T SNP SLC6A5 ENST00000525748 human ensembl 74_37 +1 known missense c.764 p.A255V 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 tier1 - - 61 0 0.00 38 4 9.52 SLIT1 0 genome.wustl.edu 37 10 98808783 98808783 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 10 98808783 98808783 C T SNP SLIT1 ENST00000266058 human ensembl 74_37 -1 known missense c.1394 p.R465H 1.000 pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,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 SLIT1 HGNC ENSG00000187122 tier1 - - 83 0 0.00 59 10 14.49 SMCHD1 0 genome.wustl.edu 37 18 2688427 2688427 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 18 2688427 2688427 C T SNP SMCHD1 ENST00000320876 human ensembl 74_37 +1 known missense c.674 p.P225L 0.997 superfamily_HATPase_ATP-bd pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 tier1 - - 82 0 0.00 110 14 11.29 SNHG14 0 genome.wustl.edu 37 15 25432513 25432513 + RNA SNP A A C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 15 25432513 25432513 A C SNP SNHG14 ENST00000424208 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 26 0 0.00 15 15 50.00 SOGA2 0 genome.wustl.edu 37 18 8793068 8793068 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 18 8793068 8793068 G A SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.1960 p.A654T 0.711 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 36 0 0.00 31 2 6.06 SP8 0 genome.wustl.edu 37 7 20824044 20824046 + In_Frame_Del DEL GCC GCC - TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 7 20824044 20824046 GCC - DEL SP8 ENST00000418710 human ensembl 74_37 -1 known in_frame_del c.1392_1390 p.G464in_frame_del 1.000:1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1 - no_errors SP8 HGNC ENSG00000164651 tier1 20 0 0.00 8 3 27.27 SPAG17 0 genome.wustl.edu 37 1 118624196 118624196 + Missense_Mutation SNP T T A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 118624196 118624196 T A SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.1832 p.E611V 0.947 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 46 0 0.00 48 3 5.88 SRFBP1 0 genome.wustl.edu 37 5 121330324 121330324 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 5 121330324 121330324 G T SNP SRFBP1 ENST00000339397 human ensembl 74_37 +1 known missense c.229 p.A77S 1.000 NULL pfam_Bud-site_select_BUD22 - no_errors SRFBP1 HGNC ENSG00000151304 58 0 0.00 59 4 6.35 STAT3 0 genome.wustl.edu 37 17 40475078 40475078 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 17 40475078 40475078 C T SNP STAT3 ENST00000264657 human ensembl 74_37 -1 known missense c.1832 p.S611N 1.000 pfam_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC ENSG00000168610 tier1 - - 44 0 0.00 54 4 6.90 STT3B 0 genome.wustl.edu 37 3 31674472 31674472 + Nonsense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 3 31674472 31674472 G T SNP STT3B ENST00000295770 human ensembl 74_37 +1 known nonsense c.2233 p.E745* 1.000 NULL pfam_Oligo_trans_STT3 - no_errors STT3B HGNC ENSG00000163527 65 0 0.00 53 4 7.02 SYNCRIP 0 genome.wustl.edu 37 6 86332363 86332363 + Missense_Mutation SNP T T A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 6 86332363 86332363 T A SNP SYNCRIP ENST00000369622 human ensembl 74_37 -1 known missense c.845 p.K282M 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 49 0 0.00 35 2 5.41 SYNE1 0 genome.wustl.edu 37 6 152473212 152473212 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 6 152473212 152473212 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.24194 p.R8065H 1.000 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 57 0 0.00 27 12 30.77 TBC1D27 0 genome.wustl.edu 37 17 16829387 16829387 + RNA SNP A A G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 17 16829387 16829387 A G SNP TBC1D27 ENST00000261651 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors TBC1D27 HGNC ENSG00000128438 tier1 - - 51 0 0.00 33 14 29.79 TEAD4 0 genome.wustl.edu 37 12 3104001 3104001 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 12 3104001 3104001 C T SNP TEAD4 ENST00000359864 human ensembl 74_37 +1 known silent c.69 p.T23 0.993 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD4 HGNC ENSG00000197905 tier1 rs149191988 - 63 0 0.00 38 8 17.39 TENM1 0 genome.wustl.edu 37 X 123631044 123631044 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 X 123631044 123631044 C T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.3517 p.G1173S 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 tier1 - - 43 0 0.00 23 18 43.90 TF 0 genome.wustl.edu 37 3 133476751 133476751 + Nonsense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 3 133476751 133476751 G T SNP TF ENST00000402696 human ensembl 74_37 +1 known nonsense c.1009 p.E337* 0.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 54 0 0.00 47 3 6.00 THOC2 0 genome.wustl.edu 37 X 122802071 122802071 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 X 122802071 122802071 G T SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known missense c.956 p.S319Y 1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 tier1 - - 42 0 0.00 29 4 12.12 TIGD7 0 genome.wustl.edu 37 16 3349697 3349697 + Silent SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 16 3349697 3349697 G T SNP TIGD7 ENST00000268674 human ensembl 74_37 -1 known silent c.918 p.S306 0.486 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 28 0 0.00 18 2 10.00 TKT 0 genome.wustl.edu 37 3 53262291 53262291 + Splice_Site SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 3 53262291 53262291 C T SNP TKT ENST00000423525 human ensembl 74_37 -1 known splice_site c.1479+1 e11+1 1.000 - - - no_errors TKT HGNC ENSG00000163931 tier1 - - 56 0 0.00 46 4 8.00 TMEM117 0 genome.wustl.edu 37 12 44783276 44783276 + RNA SNP A A C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 12 44783276 44783276 A C SNP TMEM117 ENST00000546978 human ensembl 74_37 +1 known rna NULL NULL 0.929 - - - no_errors TMEM117 HGNC ENSG00000139173 tier1 - - 38 0 0.00 28 9 24.32 TMEM8B 0 genome.wustl.edu 37 9 35835363 35835363 + RNA SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 9 35835363 35835363 C A SNP TMEM8B ENST00000464519 human ensembl 74_37 +1 known rna NULL NULL 0.091 - - - no_errors TMEM8B HGNC ENSG00000137103 tier1 - - 52 0 0.00 26 12 31.58 TMTC1 0 genome.wustl.edu 37 12 29936404 29936404 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 12 29936404 29936404 G A SNP TMTC1 ENST00000539277 human ensembl 74_37 -1 putative missense c.281 p.P94L 1.000 NULL pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 tier1 - - 151 0 0.00 107 34 24.11 TOP2B 0 genome.wustl.edu 37 3 25675418 25675418 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 3 25675418 25675418 C T SNP TOP2B ENST00000264331 human ensembl 74_37 -1 known missense c.940 p.A314T 1.000 pfam_Topo_IIA_bsu_dom2,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 tier1 - - 56 0 0.00 40 4 9.09 TOPBP1 0 genome.wustl.edu 37 3 133362168 133362168 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 3 133362168 133362168 G T SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known missense c.1897 p.L633I 1.000 superfamily_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 46 0 0.00 32 2 5.88 TP53 0 genome.wustl.edu 37 17 7578395 7578395 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 17 7578395 7578395 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.535 p.H179Y 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 36 0 0.00 28 10 26.32 TP53TG1 0 genome.wustl.edu 37 7 86974517 86974517 + RNA SNP T T C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 7 86974517 86974517 T C SNP TP53TG1 ENST00000359941 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TP53TG1 HGNC ENSG00000182165 tier1 - - 49 0 0.00 31 18 36.73 TRAP1 0 genome.wustl.edu 37 16 3722755 3722755 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 16 3722755 3722755 G T SNP TRAP1 ENST00000246957 human ensembl 74_37 -1 known missense c.1111 p.L371I 1.000 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors TRAP1 HGNC ENSG00000126602 tier1 - - 50 0 0.00 39 4 9.30 TRIM63 0 genome.wustl.edu 37 1 26386784 26386784 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 26386784 26386784 C T SNP TRIM63 ENST00000374272 human ensembl 74_37 -1 known silent c.570 p.Q190 1.000 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM63 HGNC ENSG00000158022 tier1 - - 51 0 0.00 32 8 20.00 TRIP12 0 genome.wustl.edu 37 2 230683196 230683196 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 2 230683196 230683196 G T SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known missense c.1339 p.Q447K 1.000 superfamily_ARM-type_fold pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 73 0 0.00 76 4 5.00 TSKU 0 genome.wustl.edu 37 11 76506652 76506652 + Splice_Site SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 76506652 76506652 G A SNP TSKU ENST00000333090 human ensembl 74_37 +1 known splice_site c.1-1 e1-1 0.940 - - - no_errors TSKU HGNC ENSG00000182704 51 0 0.00 43 4 8.51 TTN 0 genome.wustl.edu 37 2 179471802 179471802 + Missense_Mutation SNP A A T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 2 179471802 179471802 A T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.45823 p.F15275I 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 33 0 0.00 30 9 23.08 TTN 0 genome.wustl.edu 37 2 179602912 179602912 + Silent SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 2 179602912 179602912 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.10536 p.S3512 0.701 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 tier1 - - 81 0 0.00 68 4 5.41 TUBBP5 0 genome.wustl.edu 37 9 141071577 141071577 + RNA SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 9 141071577 141071577 C T SNP TUBBP5 ENST00000290377 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP5 HGNC ENSG00000159247 tier1 - - 138 0 0.00 122 25 16.89 TYRO3 0 genome.wustl.edu 37 15 41870083 41870083 + Splice_Site SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 15 41870083 41870083 G T SNP TYRO3 ENST00000263798 human ensembl 74_37 +1 known splice_site c.2283-1 e19-1 1.000 - - - no_errors TYRO3 HGNC ENSG00000092445 74 0 0.00 38 3 7.32 UFC1 0 genome.wustl.edu 37 1 161126856 161126856 + RNA SNP A A G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 161126856 161126856 A G SNP UFC1 ENST00000482672 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors UFC1 HGNC ENSG00000143222 tier1 - - 42 0 0.00 27 6 18.18 UNC93B1 0 genome.wustl.edu 37 11 67770600 67770600 + Missense_Mutation SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 67770600 67770600 C A SNP UNC93B1 ENST00000227471 human ensembl 74_37 -1 known missense c.284 p.R95L 1.000 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 tier1 - - 25 0 0.00 30 5 14.29 USP7 0 genome.wustl.edu 37 16 8989526 8989527 + Frame_Shift_Ins INS - - G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 16 8989526 8989527 - G INS USP7 ENST00000344836 human ensembl 74_37 -1 known frame_shift_ins c.2892_2891 p.A965fs 0.071:1.000 NULL pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 tier1 48 0 0.00 49 9 15.52 UST 0 genome.wustl.edu 37 6 149208144 149208144 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 6 149208144 149208144 C T SNP UST ENST00000367463 human ensembl 74_37 +1 known silent c.270 p.D90 1.000 superfamily_P-loop_NTPase pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors UST HGNC ENSG00000111962 63 0 0.00 66 4 5.71 VIL1 0 genome.wustl.edu 37 2 219296821 219296821 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 2 219296821 219296821 G A SNP VIL1 ENST00000248444 human ensembl 74_37 +1 known missense c.1256 p.G419D 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VIL1 HGNC ENSG00000127831 36 0 0.00 35 4 10.26 VPRBP 0 genome.wustl.edu 37 3 51456251 51456251 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 3 51456251 51456251 G A SNP VPRBP ENST00000335891 human ensembl 74_37 -1 known missense c.1969 p.R657W 1.000 superfamily_WD40_repeat_dom,superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC ENSG00000145041 tier1 - - 34 0 0.00 20 11 35.48 VPS13B 0 genome.wustl.edu 37 8 100829828 100829828 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 8 100829828 100829828 G T SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.8233 p.V2745F 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 - - 55 0 0.00 42 4 8.70 VWDE 0 genome.wustl.edu 37 7 12396913 12396913 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 7 12396913 12396913 G A SNP VWDE ENST00000452576 human ensembl 74_37 -1 known missense c.3503 p.A1168V 0.909 superfamily_Cadherin-like,smart_EG-like_dom pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors VWDE HGNC ENSG00000146530 tier1 - - 62 0 0.00 47 4 7.84 WAC 0 genome.wustl.edu 37 10 28899699 28899699 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 10 28899699 28899699 G A SNP WAC ENST00000354911 human ensembl 74_37 +1 known missense c.1237 p.A413T 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WAC HGNC ENSG00000095787 tier1 - - 80 0 0.00 75 4 5.06 WBSCR17 0 genome.wustl.edu 37 7 70885995 70885995 + Missense_Mutation SNP A A T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 7 70885995 70885995 A T SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.866 p.E289V 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 tier1 - - 68 0 0.00 61 12 16.44 WDR72 0 genome.wustl.edu 37 15 54003577 54003577 + Silent SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 15 54003577 54003577 G A SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known silent c.813 p.I271 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 WDR72 HGNC ENSG00000166415 tier1 - - 58 0 0.00 42 4 8.70 WT1 0 genome.wustl.edu 37 11 32456254 32456254 + Missense_Mutation SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 11 32456254 32456254 C A SNP WT1 ENST00000332351 human ensembl 74_37 -1 known missense c.638 p.R213L 1.000 pfam_Wilms_tumour_N pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour - no_errors WT1 HGNC ENSG00000184937 tier1 - - 40 0 0.00 39 6 13.33 WWC2 0 genome.wustl.edu 37 4 184182451 184182451 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 4 184182451 184182451 G T SNP WWC2 ENST00000448232 human ensembl 74_37 +1 known missense c.1675 p.G559C 0.952 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC2 HGNC ENSG00000151718 tier1 - - 48 0 0.00 24 3 11.11 WWOX 0 genome.wustl.edu 37 16 78142384 78142384 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 16 78142384 78142384 G A SNP WWOX ENST00000566780 human ensembl 74_37 +1 known missense c.172 p.D58N 1.000 superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH - no_errors WWOX HGNC ENSG00000186153 tier1 - - 56 0 0.00 49 5 9.26 XPO1 0 genome.wustl.edu 37 2 61726050 61726051 + Splice_Site INS - - A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 2 61726050 61726051 - A INS XPO1 ENST00000401558 human ensembl 74_37 -1 known splice_site_ins c.591-3_591-2 e7-2 1.000:0.996 - - - no_errors XPO1 HGNC ENSG00000082898 tier1 17 0 0.00 16 3 15.79 XPO4 0 genome.wustl.edu 37 13 21417073 21417073 + Missense_Mutation SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 13 21417073 21417073 C T SNP XPO4 ENST00000255305 human ensembl 74_37 -1 known missense c.688 p.A230T 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 tier1 - - 139 0 0.00 65 21 24.14 ZC3H13 0 genome.wustl.edu 37 13 46559440 46559440 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 13 46559440 46559440 G T SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.1712 p.P571H 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 tier1 - - 63 0 0.00 53 5 8.62 ZFAT 0 genome.wustl.edu 37 8 135545194 135545194 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 8 135545194 135545194 G A SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.2998 p.H1000Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 tier1 - - 67 0 0.00 40 14 25.45 ZNF219 0 genome.wustl.edu 37 14 21561155 21561155 + Missense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 14 21561155 21561155 G T SNP ZNF219 ENST00000360947 human ensembl 74_37 -1 known missense c.301 p.R101S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_rcpt - no_errors ZNF219 HGNC ENSG00000165804 14 0 0.00 24 4 14.29 ZNF280D 0 genome.wustl.edu 37 15 56981230 56981230 + RNA SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 15 56981230 56981230 G T SNP ZNF280D ENST00000561126 human ensembl 74_37 -1 putative rna NULL NULL 0.173 - - - no_errors ZNF280D HGNC ENSG00000137871 tier1 - - 94 0 0.00 66 4 5.71 ZNF488 0 genome.wustl.edu 37 10 48371120 48371120 + Silent SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 10 48371120 48371120 C A SNP ZNF488 ENST00000395702 human ensembl 74_37 +1 known silent c.588 p.L196 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF488 HGNC ENSG00000165388 50 0 0.00 41 3 6.82 ZNF561 0 genome.wustl.edu 37 19 9727893 9727893 + RNA SNP C C A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 19 9727893 9727893 C A SNP ZNF561 ENST00000470932 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF561 HGNC ENSG00000171469 tier1 - - 85 0 0.00 49 17 25.76 ZNF585A 0 genome.wustl.edu 37 19 37605982 37605982 + RNA SNP A A G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 19 37605982 37605982 A G SNP ZNF585A ENST00000588723 human ensembl 74_37 -1 known rna NULL NULL 0.136 - - - no_errors ZNF585A HGNC ENSG00000196967 tier1 - - 70 0 0.00 39 6 13.33 ZNF695 0 genome.wustl.edu 37 1 247150387 247150387 + Nonsense_Mutation SNP G G T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 1 247150387 247150387 G T SNP ZNF695 ENST00000339986 human ensembl 74_37 -1 known nonsense c.1430 p.S477* 0.011 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 ZNF695 HGNC ENSG00000197472 tier1 - - 68 0 0.00 66 5 7.04 ZSWIM6 0 genome.wustl.edu 37 5 60821679 60821679 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b6b94782-491a-4150-bcb6-7c4cc2d0ef25 46ff075c-bad7-476a-8841-bb8e7378c3b9 5 60821679 60821679 C T SNP ZSWIM6 ENST00000252744 human ensembl 74_37 +1 novel silent c.1566 p.C522 0.576 NULL pfscan_Znf_SWIM,prints_Antifreeze_1 - no_errors ZSWIM6 HGNC ENSG00000130449 tier1 - - 33 0 0.00 39 4 9.30