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 AADAT 0 genome.wustl.edu 37 4 170983068 170983068 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 4 170983068 170983068 G A SNP AADAT ENST00000509167 human ensembl 74_37 -1 known missense c.1223 p.S408L 0.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors AADAT HGNC ENSG00000109576 tier1 - - 32 0 0.00 15 7 31.82 ABHD3 0 genome.wustl.edu 37 18 19284501 19284501 + Silent SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 18 19284501 19284501 G A SNP ABHD3 ENST00000289119 human ensembl 74_37 -1 known silent c.126 p.V42 0.973 pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD3 HGNC ENSG00000158201 tier1 - - 119 0 0.00 103 15 12.71 ACCS 0 genome.wustl.edu 37 11 44089204 44089204 + Silent SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 44089204 44089204 C T SNP ACCS ENST00000263776 human ensembl 74_37 +1 known silent c.27 p.F9 0.006 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCS HGNC ENSG00000110455 tier1 - - 74 0 0.00 38 13 25.49 ACE2 0 genome.wustl.edu 37 X 15618926 15618926 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 15618926 15618926 C T SNP ACE2 ENST00000252519 human ensembl 74_37 -1 known missense c.109 p.E37K 1.000 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE2 HGNC ENSG00000130234 tier1 rs146676783 - 90 0 0.00 111 25 18.38 ACPT 0 genome.wustl.edu 37 19 51294951 51294951 + Silent SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 19 51294951 51294951 G A SNP ACPT ENST00000270593 human ensembl 74_37 +1 novel silent c.342 p.E114 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPT HGNC ENSG00000142513 tier1 - - 67 0 0.00 43 8 15.69 ACTA2 0 genome.wustl.edu 37 10 90699272 90699272 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 10 90699272 90699272 G T SNP ACTA2 ENST00000224784 human ensembl 74_37 -1 known missense c.800 p.S267Y 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA2 HGNC ENSG00000107796 33 0 0.00 33 4 10.81 ADNP2 0 genome.wustl.edu 37 18 77893549 77893549 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 18 77893549 77893549 C T SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known missense c.253 p.L85F 0.999 smart_Znf_C2H2-like superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 91 0 0.00 61 4 6.15 AFG3L1P 0 genome.wustl.edu 37 16 90057396 90057396 + RNA SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 16 90057396 90057396 C T SNP AFG3L1P ENST00000388970 human ensembl 74_37 +1 known rna NULL NULL 0.146 - - - no_errors AFG3L1P HGNC ENSG00000223959 tier1 - - 23 0 0.00 11 7 38.89 AKAP5 0 genome.wustl.edu 37 14 64935503 64935503 + Missense_Mutation SNP A A G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 14 64935503 64935503 A G SNP AKAP5 ENST00000320636 human ensembl 74_37 +1 known missense c.391 p.K131E 0.139 NULL pfam_Pkinase-A_anch_WSK-motif - no_errors AKAP5 HGNC ENSG00000179841 tier1 - - 82 0 0.00 71 12 14.46 AMER1 0 genome.wustl.edu 37 X 63413072 63413072 + Missense_Mutation SNP T T C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 63413072 63413072 T C SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known missense c.95 p.K32R 0.137 NULL pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 tier1 - - 58 0 0.00 26 4 13.33 ANGPT4 0 genome.wustl.edu 37 20 858914 858914 + Silent SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 20 858914 858914 G A SNP ANGPT4 ENST00000381922 human ensembl 74_37 -1 known silent c.1110 p.L370 0.998 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT4 HGNC ENSG00000101280 tier1 - - 21 0 0.00 21 6 22.22 ANKRD11 0 genome.wustl.edu 37 16 89349603 89349603 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 16 89349603 89349603 G A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.3347 p.A1116V 0.892 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 tier1 - - 39 0 0.00 31 4 11.43 ANXA4 0 genome.wustl.edu 37 2 70035228 70035228 + RNA SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 2 70035228 70035228 G A SNP ANXA4 ENST00000468815 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ANXA4 HGNC ENSG00000196975 tier1 - - 17 0 0.00 6 10 62.50 APLP1 0 genome.wustl.edu 37 19 36370269 36370269 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 19 36370269 36370269 G A SNP APLP1 ENST00000221891 human ensembl 74_37 +1 known missense c.1882 p.E628K 1.000 pfam_APP_amyloid_C,prints_Amyloid_glyco pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco - no_errors APLP1 HGNC ENSG00000105290 tier1 - - 80 0 0.00 66 15 18.52 ARHGAP36 0 genome.wustl.edu 37 X 130217775 130217775 + Silent SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 130217775 130217775 G A SNP ARHGAP36 ENST00000276211 human ensembl 74_37 +1 known silent c.387 p.K129 0.846 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 tier1 - - 120 0 0.00 26 15 36.59 ARMCX6 0 genome.wustl.edu 37 X 100871258 100871258 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 100871258 100871258 C T SNP ARMCX6 ENST00000361910 human ensembl 74_37 -1 known missense c.353 p.C118Y 0.000 pfam_ARM-rpt_dom pfam_ARM-rpt_dom - no_errors ARMCX6 HGNC ENSG00000198960 tier1 - - 161 0 0.00 76 18 19.15 ASB7 0 genome.wustl.edu 37 15 101170231 101170231 + Silent SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 15 101170231 101170231 C T SNP ASB7 ENST00000332783 human ensembl 74_37 +1 known silent c.801 p.F267 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB7 HGNC ENSG00000183475 tier1 - - 123 0 0.00 107 29 21.32 ATAD2 0 genome.wustl.edu 37 8 124368675 124368675 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 8 124368675 124368675 C G SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.1600 p.D534H 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 tier1 - - 58 0 0.00 94 12 11.32 ATG5 0 genome.wustl.edu 37 6 106756264 106756264 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 6 106756264 106756264 C G SNP ATG5 ENST00000343245 human ensembl 74_37 -1 known missense c.211 p.E71Q 1.000 NULL pfam_Atg5 - no_errors ATG5 HGNC ENSG00000057663 tier1 - - 75 0 0.00 61 10 14.08 ATP1A1 0 genome.wustl.edu 37 1 116926723 116926723 + Nonsense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 116926723 116926723 G T SNP ATP1A1 ENST00000295598 human ensembl 74_37 +1 known nonsense c.100 p.E34* 1.000 tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A1 HGNC ENSG00000163399 71 0 0.00 76 4 5.00 ATXN2L 0 genome.wustl.edu 37 16 28845927 28845927 + Silent SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 16 28845927 28845927 G T SNP ATXN2L ENST00000395547 human ensembl 74_37 +1 known silent c.2346 p.T782 0.674 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 47 0 0.00 30 4 11.76 BDNF 0 genome.wustl.edu 37 11 27679606 27679606 + Frame_Shift_Del DEL T T - TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 27679606 27679606 T - DEL BDNF ENST00000438929 human ensembl 74_37 -1 known frame_shift_del c.752 p.K251fs 1.000 pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel - no_errors BDNF HGNC ENSG00000176697 tier1 39 0 0.00 30 2 6.25 BEND4 0 genome.wustl.edu 37 4 42145544 42145544 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 4 42145544 42145544 C T SNP BEND4 ENST00000502486 human ensembl 74_37 -1 known missense c.955 p.E319K 1.000 NULL pfam_BEN_domain - no_errors BEND4 HGNC ENSG00000188848 tier1 - - 42 0 0.00 17 8 30.77 BMS1P18 0 genome.wustl.edu 37 14 19904313 19904313 + RNA SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 14 19904313 19904313 C G SNP BMS1P18 ENST00000549877 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BMS1P18 HGNC ENSG00000215394 tier1 - - 109 0 0.00 86 13 13.13 BPIFB1 0 genome.wustl.edu 37 20 31886920 31886920 + RNA SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 20 31886920 31886920 G C SNP BPIFB1 ENST00000464032 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors BPIFB1 HGNC ENSG00000125999 tier1 - - 60 0 0.00 38 19 33.33 BRINP1 0 genome.wustl.edu 37 9 122011301 122011301 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 9 122011301 122011301 G T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.346 p.Q116K 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 67 0 0.00 28 2 6.67 C20orf112 0 genome.wustl.edu 37 20 31041537 31041537 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 20 31041537 31041537 C T SNP C20orf112 ENST00000359676 human ensembl 74_37 -1 known missense c.415 p.D139N 1.000 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 tier1 - - 43 0 0.00 35 5 12.50 C6orf163 0 genome.wustl.edu 37 6 88060192 88060192 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 6 88060192 88060192 G C SNP C6orf163 ENST00000388923 human ensembl 74_37 +1 known missense c.324 p.L108F 0.933 NULL NULL - no_errors C6orf163 HGNC ENSG00000203872 tier1 - - 104 0 0.00 88 24 21.05 CACNA2D3 0 genome.wustl.edu 37 3 54661816 54661816 + Missense_Mutation SNP C C A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 3 54661816 54661816 C A SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.966 p.H322Q 0.995 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 tier1 - - 40 0 0.00 31 4 11.43 CAMKK2 0 genome.wustl.edu 37 12 121678327 121678329 + In_Frame_Del DEL CTT CTT - TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 12 121678327 121678329 CTT - DEL CAMKK2 ENST00000392474 human ensembl 74_37 -1 known in_frame_del c.1615_1613 p.KG538in_frame_delR 0.005:0.000:0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMKK2 HGNC ENSG00000110931 tier1 77 0 0.00 65 6 8.45 CARNS1 0 genome.wustl.edu 37 11 67186432 67186432 + Silent SNP A A G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 67186432 67186432 A G SNP CARNS1 ENST00000445895 human ensembl 74_37 +1 known silent c.570 p.A190 0.989 NULL superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 tier1 - - 37 0 0.00 29 8 21.62 CARNS1 0 genome.wustl.edu 37 11 67186451 67186451 + Missense_Mutation SNP A A C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 67186451 67186451 A C SNP CARNS1 ENST00000445895 human ensembl 74_37 +1 known missense c.589 p.T197P 1.000 NULL superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 tier1 - - 34 0 0.00 25 9 26.47 CBL 0 genome.wustl.edu 37 11 119170428 119170428 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 119170428 119170428 G C SNP CBL ENST00000264033 human ensembl 74_37 +1 known missense c.2658 p.E886D 0.962 pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 55 0 0.00 13 4 23.53 CC2D1A 0 genome.wustl.edu 37 19 14023373 14023373 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 19 14023373 14023373 G C SNP CC2D1A ENST00000318003 human ensembl 74_37 +1 known missense c.345 p.Q115H 0.998 NULL pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom - no_errors CC2D1A HGNC ENSG00000132024 tier1 - - 18 0 0.00 2 5 71.43 CCDC60 0 genome.wustl.edu 37 12 119954500 119954500 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 12 119954500 119954500 G C SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known missense c.956 p.R319T 0.000 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 tier1 - - 55 0 0.00 28 4 12.50 CCM2L 0 genome.wustl.edu 37 20 30619042 30619043 + In_Frame_Ins INS - - GAC TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 20 30619042 30619043 - GAC INS CCM2L ENST00000300415 human ensembl 74_37 +1 known in_frame_ins c.1641_1642 p.551in_frame_insD 0.994:1.000 NULL NULL - no_errors CCM2L HGNC ENSG00000101331 tier1 10 0 0.00 6 4 40.00 CD207 0 genome.wustl.edu 37 2 71061152 71061152 + Splice_Site SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 2 71061152 71061152 C T SNP CD207 ENST00000410009 human ensembl 74_37 -1 known splice_site c.191-1 e3-1 0.998 - - - no_errors CD207 HGNC ENSG00000116031 tier1 - - 28 0 0.00 2 4 66.67 CDC26 0 genome.wustl.edu 37 9 116029647 116029647 + Missense_Mutation SNP T T C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 9 116029647 116029647 T C SNP CDC26 ENST00000374206 human ensembl 74_37 -1 known missense c.154 p.S52G 0.997 pfam_APC_suCDC26 pfam_APC_suCDC26 - no_errors CDC26 HGNC ENSG00000176386 tier1 - - 54 0 0.00 16 22 57.89 CDKL5 0 genome.wustl.edu 37 X 18622887 18622887 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 18622887 18622887 G T SNP CDKL5 ENST00000379989 human ensembl 74_37 +1 known missense c.1843 p.V615L 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDKL5 HGNC ENSG00000008086 38 0 0.00 46 3 6.12 CDR1 0 genome.wustl.edu 37 X 139866523 139866523 + Missense_Mutation SNP C C A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 139866523 139866523 C A SNP CDR1 ENST00000370532 human ensembl 74_37 -1 known missense c.9 p.W3C 0.001 NULL NULL - no_errors CDR1 HGNC ENSG00000184258 tier1 - - 159 0 0.00 62 6 8.82 CKM 0 genome.wustl.edu 37 19 45821144 45821144 + Missense_Mutation SNP C C A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 19 45821144 45821144 C A SNP CKM ENST00000221476 human ensembl 74_37 -1 known missense c.287 p.R96L 1.000 pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKM HGNC ENSG00000104879 tier1 - - 74 0 0.00 48 10 17.24 CLCNKA 0 genome.wustl.edu 37 1 16349185 16349185 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 16349185 16349185 C T SNP CLCNKA ENST00000331433 human ensembl 74_37 +1 known missense c.71 p.P24L 0.945 prints_Cl_channel-K pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC ENSG00000186510 tier1 - - 64 0 0.00 20 24 54.55 CNOT6L 0 genome.wustl.edu 37 4 78740515 78740516 + RNA DEL AC AC - TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 4 78740515 78740516 AC - DEL CNOT6L ENST00000506166 human ensembl 74_37 -1 known rna NULL NULL 0.994:0.997 - - - no_errors CNOT6L HGNC ENSG00000138767 tier1 46 0 0.00 23 2 8.00 COG6 0 genome.wustl.edu 37 13 40239254 40239254 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 13 40239254 40239254 G A SNP COG6 ENST00000455146 human ensembl 74_37 +1 known missense c.391 p.D131N 1.000 pfam_COG6 pfam_COG6 - no_errors COG6 HGNC ENSG00000133103 tier1 - - 224 0 0.00 124 67 35.08 COL19A1 0 genome.wustl.edu 37 6 70850865 70850865 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 6 70850865 70850865 G A SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.1466 p.G489E 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 tier1 - - 143 0 0.00 82 24 22.64 COQ4 0 genome.wustl.edu 37 9 131088140 131088140 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 9 131088140 131088140 C G SNP COQ4 ENST00000300452 human ensembl 74_37 +1 known missense c.382 p.L128V 1.000 pfam_Coq4 pfam_Coq4 - no_errors COQ4 HGNC ENSG00000167113 42 0 0.00 11 2 15.38 CRB1 0 genome.wustl.edu 37 1 197404164 197404164 + Silent SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 197404164 197404164 C T SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known silent c.3171 p.N1057 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 tier1 rs62636284 - 52 0 0.00 34 9 20.93 CRLS1 0 genome.wustl.edu 37 20 6011944 6011944 + Silent SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 20 6011944 6011944 C T SNP CRLS1 ENST00000378863 human ensembl 74_37 +1 known silent c.588 p.Y196 0.982 NULL pfam_CDP-OH_P_trans - no_errors CRLS1 HGNC ENSG00000088766 tier1 - - 50 0 0.00 56 4 6.67 CTAGE5 0 genome.wustl.edu 37 14 39763208 39763208 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 14 39763208 39763208 C T SNP CTAGE5 ENST00000396158 human ensembl 74_37 +1 known missense c.515 p.A172V 0.002 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 tier1 rs139644527 - 108 0 0.00 77 36 31.86 CTTN 0 genome.wustl.edu 37 11 70277335 70277335 + Silent SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 70277335 70277335 G A SNP CTTN ENST00000301843 human ensembl 74_37 +1 known silent c.1215 p.S405 0.938 superfamily_SH3_domain,prints_p67phox pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors CTTN HGNC ENSG00000085733 25 0 0.00 55 4 6.78 CUBN 0 genome.wustl.edu 37 10 16878337 16878337 + Silent SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 10 16878337 16878337 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.10077 p.S3359 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 95 0 0.00 52 4 7.14 CUL1 0 genome.wustl.edu 37 7 148497645 148497645 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 7 148497645 148497645 G A SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known missense c.2302 p.E768K 1.000 pfam_Cullin_neddylation_domain,smart_Cullin_neddylation_domain pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 tier1 - - 81 0 0.00 28 33 54.10 CXorf57 0 genome.wustl.edu 37 X 105855928 105855928 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 105855928 105855928 G T SNP CXorf57 ENST00000372548 human ensembl 74_37 +1 known missense c.618 p.K206N 0.237 NULL superfamily_NA-bd_OB-fold - no_errors CXorf57 HGNC ENSG00000147231 tier1 - - 95 0 0.00 48 4 7.69 CYLC2 0 genome.wustl.edu 37 9 105767853 105767853 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 9 105767853 105767853 G C SNP CYLC2 ENST00000374798 human ensembl 74_37 +1 known missense c.940 p.D314H 0.005 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 tier1 - - 125 0 0.00 24 43 64.18 DBF4 0 genome.wustl.edu 37 7 87537005 87537005 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 7 87537005 87537005 C G SNP DBF4 ENST00000265728 human ensembl 74_37 +1 known missense c.1552 p.L518V 0.724 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4 HGNC ENSG00000006634 tier1 - - 57 0 0.00 46 26 36.11 DCAF12L1 0 genome.wustl.edu 37 X 125685531 125685531 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 125685531 125685531 C T SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.1061 p.R354Q 0.930 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 DCAF12L1 HGNC ENSG00000198889 tier1 - - 58 0 0.00 10 9 47.37 DCAF12L2 0 genome.wustl.edu 37 X 125299586 125299586 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 125299586 125299586 C T SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.322 p.A108T 0.993 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 tier1 - - 50 0 0.00 14 5 26.32 DDX19A 0 genome.wustl.edu 37 16 70404231 70404231 + Nonsense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 16 70404231 70404231 G T SNP DDX19A ENST00000302243 human ensembl 74_37 +1 known nonsense c.1126 p.E376* 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX19A HGNC ENSG00000168872 tier1 - - 56 0 0.00 30 16 34.78 DEPDC5 0 genome.wustl.edu 37 22 32215189 32215189 + Silent SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 22 32215189 32215189 C T SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known silent c.1848 p.R616 0.943 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 tier1 - - 31 0 0.00 38 4 9.52 DERA 0 genome.wustl.edu 37 12 16109917 16109917 + Missense_Mutation SNP A A T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 12 16109917 16109917 A T SNP DERA ENST00000428559 human ensembl 74_37 +1 known missense c.79 p.R27W 0.983 NULL pfam_DeoC/FbaB/lacD_aldolase,pirsf_DeoC,tigrfam_DeoC - no_errors DERA HGNC ENSG00000023697 tier1 - - 60 0 0.00 35 10 22.22 DHRS7C 0 genome.wustl.edu 37 17 9674864 9674864 + Missense_Mutation SNP A A G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 17 9674864 9674864 A G SNP DHRS7C ENST00000330255 human ensembl 74_37 -1 known missense c.880 p.F294L 1.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7C HGNC ENSG00000184544 tier1 - - 81 0 0.00 39 4 9.30 DLEC1 0 genome.wustl.edu 37 3 38163174 38163174 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 3 38163174 38163174 G T SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.4922 p.W1641L 1.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 tier1 - - 37 0 0.00 4 20 83.33 DLGAP1 0 genome.wustl.edu 37 18 3879663 3879663 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 18 3879663 3879663 C T SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known missense c.406 p.G136S 1.000 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 tier1 - - 14 0 0.00 14 4 22.22 DMXL2 0 genome.wustl.edu 37 15 51857295 51857295 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 15 51857295 51857295 C G SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.354 p.W118C 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 tier1 - - 154 0 0.00 121 32 20.92 DNAH12 0 genome.wustl.edu 37 3 57391391 57391391 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 3 57391391 57391391 G T SNP DNAH12 ENST00000351747 human ensembl 74_37 -1 known missense c.6508 p.Q2170K 0.443 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 50 0 0.00 39 3 7.14 DSE 0 genome.wustl.edu 37 6 116579735 116579735 + Silent SNP T T A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 6 116579735 116579735 T A SNP DSE ENST00000540275 human ensembl 74_37 +1 known silent c.129 p.L43 1.000 NULL NULL - no_errors DSE HGNC ENSG00000111817 tier1 - - 18 0 0.00 7 9 56.25 DSP 0 genome.wustl.edu 37 6 7580047 7580048 + Frame_Shift_Ins INS - - AAGT TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 6 7580047 7580048 - AAGT INS DSP ENST00000379802 human ensembl 74_37 +1 known frame_shift_ins c.3624_3625 p.Y1209fs 1.000:1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 tier1 43 0 0.00 12 10 45.45 DYNC1H1 0 genome.wustl.edu 37 14 102470942 102470942 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 14 102470942 102470942 G T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.4971 p.M1657I 1.000 pfam_Dynein_heavy_dom-2,superfamily_Thioredoxin-like_fold pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 93 0 0.00 94 5 5.05 EFTUD2 0 genome.wustl.edu 37 17 42931671 42931671 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 17 42931671 42931671 C G SNP EFTUD2 ENST00000426333 human ensembl 74_37 -1 known missense c.2313 p.Q771H 1.000 pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 tier1 - - 43 0 0.00 47 5 9.62 EGF 0 genome.wustl.edu 37 4 110915911 110915911 + Silent SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 4 110915911 110915911 C T SNP EGF ENST00000265171 human ensembl 74_37 +1 known silent c.2880 p.L960 0.000 pirsf_Pro-epidermal_GF pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 tier1 - - 47 0 0.00 28 7 20.00 EIF3J 0 genome.wustl.edu 37 15 44853291 44853291 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 15 44853291 44853291 G A SNP EIF3J ENST00000261868 human ensembl 74_37 +1 known missense c.721 p.A241T 1.000 pfam_eIF3j pfam_eIF3j - no_errors EIF3J HGNC ENSG00000104131 75 0 0.00 64 4 5.88 EIF4G3 0 genome.wustl.edu 37 1 21219891 21219893 + RNA DEL TCT TCT - TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 21219891 21219893 TCT - DEL EIF4G3 ENST00000374933 human ensembl 74_37 -1 known rna NULL NULL 0.781:0.836:0.918 - - - no_errors EIF4G3 HGNC ENSG00000075151 tier1 22 0 0.00 21 3 12.50 ELFN2 0 genome.wustl.edu 37 22 37769180 37769180 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 22 37769180 37769180 C T SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.2395 p.A799T 1.000 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 tier1 - - 51 0 0.00 39 12 23.53 ENSG00000231645 0 genome.wustl.edu 37 17 20418649 20418649 + RNA SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 17 20418649 20418649 C T SNP ENSG00000231645 ENST00000581013 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC025627.9 Clone_based_vega_gene ENSG00000231645 tier1 - - 87 0 0.00 29 10 25.64 ENSG00000255532 0 genome.wustl.edu 37 11 49391909 49391909 + RNA SNP C C A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 49391909 49391909 C A SNP ENSG00000255532 ENST00000529081 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2026G22.1 Clone_based_vega_gene ENSG00000255532 tier1 - - 123 0 0.00 84 23 21.50 ENSG00000257743 0 genome.wustl.edu 37 7 141838447 141838447 + Missense_Mutation SNP C C A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 7 141838447 141838447 C A SNP ENSG00000257743 ENST00000477922 human ensembl 74_37 +1 putative missense c.1066 p.R356S 0.990 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 tier1 - - 97 0 0.00 68 4 5.56 ENSG00000258603 0 genome.wustl.edu 37 14 74083610 74083610 + RNA SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 14 74083610 74083610 C T SNP ENSG00000258603 ENST00000555011 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP3-414A15.10 Clone_based_vega_gene ENSG00000258603 tier1 - - 16 0 0.00 14 7 33.33 ENSG00000261423 0 genome.wustl.edu 37 15 72766629 72766629 + RNA SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 15 72766629 72766629 C T SNP ENSG00000261423 ENST00000565181 human ensembl 74_37 -1 known rna NULL NULL 0.986 - - - no_errors RP11-1007O24.3 Clone_based_vega_gene ENSG00000261423 tier1 - - 18 0 0.00 12 6 33.33 ENSG00000267075 0 genome.wustl.edu 37 17 20451588 20451588 + RNA SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 17 20451588 20451588 C T SNP ENSG00000267075 ENST00000591705 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-434D2.3 Clone_based_vega_gene ENSG00000267075 tier1 - - 37 0 0.00 30 4 11.76 EPM2A 0 genome.wustl.edu 37 6 145992502 145992502 + RNA SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 6 145992502 145992502 G A SNP EPM2A ENST00000461700 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors EPM2A HGNC ENSG00000112425 tier1 - - 66 0 0.00 51 18 26.09 EPS15 0 genome.wustl.edu 37 1 51887718 51887719 + RNA INS - - A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 51887718 51887719 - A INS EPS15 ENST00000493793 human ensembl 74_37 -1 known rna NULL NULL 0.103:0.380 - - - no_errors EPS15 HGNC ENSG00000085832 tier1 21 0 0.00 12 4 25.00 EVA1C 0 genome.wustl.edu 37 21 33887546 33887546 + RNA SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 21 33887546 33887546 G A SNP EVA1C ENST00000485488 human ensembl 74_37 +1 known rna NULL NULL 0.305 - - - no_errors EVA1C HGNC ENSG00000166979 tier1 - - 48 0 0.00 96 15 13.51 FAM114A2 0 genome.wustl.edu 37 5 153381887 153381887 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 5 153381887 153381887 G A SNP FAM114A2 ENST00000351797 human ensembl 74_37 -1 known missense c.1180 p.H394Y 1.000 NULL pfam_DUF719 - no_errors FAM114A2 HGNC ENSG00000055147 tier1 - - 54 0 0.00 32 8 20.00 FAM135B 0 genome.wustl.edu 37 8 139144977 139144977 + Silent SNP A A C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 8 139144977 139144977 A C SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known silent c.4080 p.T1360 0.976 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 tier1 - - 44 0 0.00 43 14 24.56 FAM135B 0 genome.wustl.edu 37 8 139255189 139255189 + Nonsense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 8 139255189 139255189 G C SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known nonsense c.665 p.S222* 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 tier1 - - 65 0 0.00 51 7 12.07 FAM208A 0 genome.wustl.edu 37 3 56662638 56662638 + Missense_Mutation SNP T T C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 3 56662638 56662638 T C SNP FAM208A ENST00000355628 human ensembl 74_37 -1 known missense c.3569 p.Y1190C 1.000 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 tier1 - - 92 0 0.00 43 14 24.56 FANCB 0 genome.wustl.edu 37 X 14863281 14863281 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 14863281 14863281 G C SNP FANCB ENST00000324138 human ensembl 74_37 -1 known missense c.1624 p.P542A 0.000 NULL NULL - no_errors FANCB HGNC ENSG00000181544 tier1 - - 77 0 0.00 78 7 8.24 FASTK 0 genome.wustl.edu 37 7 150776949 150776949 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 7 150776949 150776949 C T SNP FASTK ENST00000297532 human ensembl 74_37 -1 known missense c.143 p.R48Q 0.995 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC ENSG00000164896 tier1 - - 21 0 0.00 7 11 61.11 FAT2 0 genome.wustl.edu 37 5 150901029 150901029 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 5 150901029 150901029 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.11125 p.E3709K 1.000 NULL pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 44 0 0.00 27 16 37.21 FAT2 0 genome.wustl.edu 37 5 150929062 150929062 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 5 150929062 150929062 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.4583 p.R1528Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 28 0 0.00 19 15 44.12 FAT2 0 genome.wustl.edu 37 5 150948297 150948297 + Nonsense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 5 150948297 150948297 G A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known nonsense c.196 p.Q66* 0.024 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 47 0 0.00 24 18 42.86 FAT4 0 genome.wustl.edu 37 4 126372870 126372870 + Missense_Mutation SNP A A G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 4 126372870 126372870 A G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.10699 p.S3567G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 25 0 0.00 11 5 31.25 FBXO43 0 genome.wustl.edu 37 8 101154003 101154003 + Missense_Mutation SNP A A G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 8 101154003 101154003 A G SNP FBXO43 ENST00000428847 human ensembl 74_37 -1 known missense c.479 p.V160A 0.031 NULL pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 tier1 - - 59 0 0.00 71 4 5.33 FCRL5 0 genome.wustl.edu 37 1 157512737 157512737 + Silent SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 157512737 157512737 C T SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known silent c.1035 p.L345 0.010 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 tier1 - - 42 0 0.00 25 5 16.67 FGD4 0 genome.wustl.edu 37 12 32772733 32772733 + Silent SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 12 32772733 32772733 G A SNP FGD4 ENST00000427716 human ensembl 74_37 +1 known silent c.1440 p.E480 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC ENSG00000139132 tier1 - - 63 0 0.00 41 10 19.61 FLT3 0 genome.wustl.edu 37 13 28622425 28622425 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 13 28622425 28622425 C T SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known missense c.1192 p.D398N 0.045 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FLT3 HGNC ENSG00000122025 tier1 - - 97 0 0.00 77 16 17.20 FMN2 0 genome.wustl.edu 37 1 240370862 240370862 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 240370862 240370862 G A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.2750 p.G917E 0.005 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 86 0 0.00 39 19 32.20 FMN2 0 genome.wustl.edu 37 1 240637787 240637787 + RNA SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 240637787 240637787 G C SNP FMN2 ENST00000496950 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 37 0 0.00 33 5 13.16 FOXO1 0 genome.wustl.edu 37 13 41134632 41134632 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 13 41134632 41134632 C T SNP FOXO1 ENST00000379561 human ensembl 74_37 -1 known missense c.996 p.M332I 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO1 HGNC ENSG00000150907 tier1 - - 37 0 0.00 22 4 15.38 GALK1 0 genome.wustl.edu 37 17 73759429 73759429 + Silent SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 17 73759429 73759429 C T SNP GALK1 ENST00000437911 human ensembl 74_37 -1 known silent c.537 p.T179 0.163 pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase - no_errors GALK1 HGNC ENSG00000108479 tier1 - - 51 0 0.00 33 27 45.00 GALNT6 0 genome.wustl.edu 37 12 51785413 51785414 + RNA INS - - A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 12 51785413 51785414 - A INS GALNT6 ENST00000603203 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.005 - - - no_errors GALNT6 HGNC ENSG00000139629 tier1 15 0 0.00 6 3 33.33 GLT1D1 0 genome.wustl.edu 37 12 129431943 129431943 + Silent SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 12 129431943 129431943 G A SNP GLT1D1 ENST00000442111 human ensembl 74_37 +1 known silent c.720 p.K240 0.982 pfam_Glyco_trans_1 pfam_Glyco_trans_1 - no_errors GLT1D1 HGNC ENSG00000151948 tier1 - - 39 0 0.00 16 7 30.43 GLYAT 0 genome.wustl.edu 37 11 58478152 58478152 + Silent SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 58478152 58478152 G C SNP GLYAT ENST00000344743 human ensembl 74_37 -1 known silent c.399 p.L133 0.698 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYAT HGNC ENSG00000149124 tier1 - - 69 0 0.00 27 27 50.00 GNL3L 0 genome.wustl.edu 37 X 54584945 54584945 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 54584945 54584945 G T SNP GNL3L ENST00000336470 human ensembl 74_37 +1 known missense c.1523 p.R508L 0.000 NULL pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL3L HGNC ENSG00000130119 tier1 rs145061026 - 46 0 0.00 36 6 14.29 GOLGA6L2 0 genome.wustl.edu 37 15 23685544 23685544 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 15 23685544 23685544 C G SNP GOLGA6L2 ENST00000567107 human ensembl 74_37 -1 putative missense c.2078 p.R693T 0.003 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 tier1 - - 111 0 0.00 80 10 11.11 GPBP1L1 0 genome.wustl.edu 37 1 46124684 46124684 + RNA SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 46124684 46124684 G T SNP GPBP1L1 ENST00000495616 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GPBP1L1 HGNC ENSG00000159592 tier1 - - 51 0 0.00 64 4 5.88 GPR112 0 genome.wustl.edu 37 X 135430243 135430243 + Nonsense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 135430243 135430243 C T SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known nonsense c.4378 p.Q1460* 0.079 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 tier1 - - 44 0 0.00 22 3 12.00 GPR116 0 genome.wustl.edu 37 6 46826698 46826698 + Frame_Shift_Del DEL T T - TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 6 46826698 46826698 T - DEL GPR116 ENST00000265417 human ensembl 74_37 -1 known frame_shift_del c.2942 p.D981fs 0.193 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 tier1 56 0 0.00 18 15 45.45 GPR52 0 genome.wustl.edu 37 1 174417614 174417614 + Nonsense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 174417614 174417614 C G SNP GPR52 ENST00000367685 human ensembl 74_37 +1 known nonsense c.365 p.S122* 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR52 HGNC ENSG00000203737 tier1 - - 52 0 0.00 16 12 42.86 GREB1L 0 genome.wustl.edu 37 18 19080511 19080511 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 18 19080511 19080511 C T SNP GREB1L ENST00000424526 human ensembl 74_37 +1 known missense c.3980 p.T1327M 0.999 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors GREB1L HGNC ENSG00000141449 tier1 - - 48 0 0.00 47 12 20.34 GRID2 0 genome.wustl.edu 37 4 94693600 94693600 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 4 94693600 94693600 C T SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.2975 p.T992I 0.998 NULL pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 38 0 0.00 11 2 15.38 GRK4 0 genome.wustl.edu 37 4 2993963 2993963 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 4 2993963 2993963 G A SNP GRK4 ENST00000398052 human ensembl 74_37 +1 known missense c.283 p.D95N 0.985 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,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,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK4 HGNC ENSG00000125388 tier1 - - 65 0 0.00 45 9 16.67 GSTO1 0 genome.wustl.edu 37 10 106022789 106022789 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 10 106022789 106022789 C T SNP GSTO1 ENST00000369713 human ensembl 74_37 +1 known missense c.419 p.A140V 0.350 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_GST_C,pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_omega - no_errors GSTO1 HGNC ENSG00000148834 61 0 0.00 46 3 6.12 GUCY1B2 0 genome.wustl.edu 37 13 51594564 51594564 + RNA SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 13 51594564 51594564 G T SNP GUCY1B2 ENST00000389600 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GUCY1B2 HGNC ENSG00000123201 tier1 - - 55 0 0.00 39 4 9.30 HECW2 0 genome.wustl.edu 37 2 197066110 197066110 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 2 197066110 197066110 G A SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.4610 p.A1537V 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 tier1 - - 55 0 0.00 21 11 34.38 HIPK2 0 genome.wustl.edu 37 7 139416649 139416649 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 7 139416649 139416649 G T SNP HIPK2 ENST00000406875 human ensembl 74_37 -1 known missense c.185 p.P62Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK2 HGNC ENSG00000064393 tier1 - - 79 0 0.00 37 4 9.76 HOXA-AS3 0 genome.wustl.edu 37 7 27192368 27192368 + RNA SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 7 27192368 27192368 G C SNP HOXA-AS3 ENST00000518947 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HOXA-AS3 HGNC ENSG00000254369 tier1 - - 95 0 0.00 60 11 15.49 HS3ST6 0 genome.wustl.edu 37 16 1961956 1961956 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 16 1961956 1961956 C T SNP HS3ST6 ENST00000293937 human ensembl 74_37 -1 known missense c.664 p.A222T 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST6 HGNC ENSG00000162040 tier1 - - 87 0 0.00 43 14 24.56 HSD17B7P2 0 genome.wustl.edu 37 10 38654432 38654432 + RNA SNP A A G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 10 38654432 38654432 A G SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 57 0 0.00 36 3 7.69 HYDIN 0 genome.wustl.edu 37 16 71019134 71019134 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 16 71019134 71019134 G C SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.4286 p.S1429C 0.733 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 63 0 0.00 30 17 36.17 IGSF3 0 genome.wustl.edu 37 1 117146501 117146501 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 117146501 117146501 G A SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known missense c.1429 p.R477C 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 51 0 0.00 22 6 21.43 IQCG 0 genome.wustl.edu 37 3 197639584 197639584 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 3 197639584 197639584 G C SNP IQCG ENST00000265239 human ensembl 74_37 -1 known missense c.925 p.H309D 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC ENSG00000114473 tier1 - - 85 0 0.00 76 30 28.04 IQCJ-SCHIP1 0 genome.wustl.edu 37 3 159482272 159482274 + In_Frame_Del DEL GCA GCA - TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 3 159482272 159482274 GCA - DEL IQCJ-SCHIP1 ENST00000485419 human ensembl 74_37 +1 known in_frame_del c.332_334 p.S115in_frame_del 1.000:1.000:1.000 NULL pfam_SCHIP_1 - no_errors IQCJ-SCHIP1 HGNC ENSG00000250588 tier1 32 0 0.00 41 4 8.89 IQSEC3 0 genome.wustl.edu 37 12 247635 247635 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 12 247635 247635 C T SNP IQSEC3 ENST00000326261 human ensembl 74_37 +1 known missense c.1106 p.A369V 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC3 HGNC ENSG00000120645 tier1 - - 11 0 0.00 6 5 45.45 ITGA2B 0 genome.wustl.edu 37 17 42462407 42462407 + Silent SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 17 42462407 42462407 C G SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known silent c.708 p.S236 0.323 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 tier1 - - 76 0 0.00 45 13 22.41 ITIH2 0 genome.wustl.edu 37 10 7786241 7786241 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 10 7786241 7786241 G C SNP ITIH2 ENST00000358415 human ensembl 74_37 +1 known missense c.2406 p.Q802H 0.021 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 tier1 - - 36 0 0.00 16 10 38.46 JAK3 0 genome.wustl.edu 37 19 17937609 17937609 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 19 17937609 17937609 C G SNP JAK3 ENST00000458235 human ensembl 74_37 -1 known missense c.3318 p.E1106D 0.249 superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 tier1 - - 42 0 0.00 33 8 19.51 KATNAL2 0 genome.wustl.edu 37 18 44584698 44584698 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 18 44584698 44584698 C T SNP KATNAL2 ENST00000245121 human ensembl 74_37 +1 known missense c.209 p.S70L 0.004 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNAL2 HGNC ENSG00000167216 tier1 - - 72 0 0.00 40 6 13.04 KCNH3 0 genome.wustl.edu 37 12 49935472 49935472 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 12 49935472 49935472 G A SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known missense c.370 p.A124T 1.000 pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_PAS,smart_PAC,pfscan_PAS-assoc_C,tigrfam_PAS pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 49 0 0.00 40 3 6.98 KCTD3 0 genome.wustl.edu 37 1 215793774 215793774 + Silent SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 215793774 215793774 G A SNP KCTD3 ENST00000259154 human ensembl 74_37 +1 known silent c.2262 p.R754 0.966 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 tier1 - - 101 0 0.00 65 20 23.53 KHDRBS1 0 genome.wustl.edu 37 1 32508359 32508359 + RNA SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 32508359 32508359 C G SNP KHDRBS1 ENST00000307714 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors KHDRBS1 HGNC ENSG00000121774 tier1 - - 59 0 0.00 24 34 57.63 KHDRBS1 0 genome.wustl.edu 37 1 32508568 32508568 + RNA SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 32508568 32508568 C G SNP KHDRBS1 ENST00000307714 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors KHDRBS1 HGNC ENSG00000121774 tier1 - - 65 0 0.00 24 24 50.00 KIAA1210 0 genome.wustl.edu 37 X 118221021 118221021 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 118221021 118221021 C T SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known missense c.4172 p.S1391N 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 tier1 - - 53 0 0.00 16 4 20.00 KIAA1644 0 genome.wustl.edu 37 22 44681532 44681532 + Nonsense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 22 44681532 44681532 G T SNP KIAA1644 ENST00000381176 human ensembl 74_37 -1 putative nonsense c.375 p.Y125* 1.000 NULL NULL - no_errors KIAA1644 HGNC ENSG00000138944 tier1 - - 63 0 0.00 61 4 6.15 KIF21A 0 genome.wustl.edu 37 12 39703442 39703442 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 12 39703442 39703442 G C SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known missense c.4226 p.S1409C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 tier1 - - 53 0 0.00 19 21 52.50 KIF21A 0 genome.wustl.edu 37 12 39760156 39760156 + Missense_Mutation SNP C C A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 12 39760156 39760156 C A SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known missense c.899 p.G300V 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 tier1 - - 57 0 0.00 33 19 36.54 LAMA4 0 genome.wustl.edu 37 6 112466087 112466087 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 6 112466087 112466087 G A SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.2402 p.T801M 0.024 pfam_Laminin_II,superfamily_Focal_adhesion_kin_target_dom pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 tier1 - - 46 0 0.00 44 5 10.20 LITAF 0 genome.wustl.edu 37 16 11643500 11643500 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 16 11643500 11643500 C T SNP LITAF ENST00000339430 human ensembl 74_37 -1 known missense c.479 p.R160H 1.000 pfam_LITAF,smart_LITAF pfam_LITAF,smart_LITAF - no_errors LITAF HGNC ENSG00000189067 tier1 - - 40 0 0.00 18 12 40.00 LOC283335 0 genome.wustl.edu 37 12 53434012 53434013 + RNA INS - - TA TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 12 53434012 53434013 - TA INS LOC283335 ENST00000546566 human ensembl 74_37 -1 known rna NULL NULL 0.774:0.052 - - - no_errors RP11-983P16.4 Clone_based_vega_gene ENSG00000257337 tier1 24 0 0.00 22 5 18.52 LRP5L 0 genome.wustl.edu 37 22 25750717 25750717 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 22 25750717 25750717 G T SNP LRP5L ENST00000402785 human ensembl 74_37 -1 known missense c.501 p.F167L 1.000 smart_LDLR_classB_rpt pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5L HGNC ENSG00000100068 tier1 - - 66 0 0.00 35 30 46.15 LRRC37A3 0 genome.wustl.edu 37 17 62892159 62892159 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 17 62892159 62892159 G T SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known missense c.1217 p.A406D 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 tier1 rs199539333 - 30 0 0.00 23 7 23.33 LRRCC1 0 genome.wustl.edu 37 8 86027421 86027421 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 8 86027421 86027421 G A SNP LRRCC1 ENST00000360375 human ensembl 74_37 +1 known missense c.631 p.E211K 0.157 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 tier1 - - 80 0 0.00 119 8 6.30 LRRIQ4 0 genome.wustl.edu 37 3 169539752 169539752 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 3 169539752 169539752 C G SNP LRRIQ4 ENST00000340806 human ensembl 74_37 +1 known missense c.43 p.H15D 0.069 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ4 HGNC ENSG00000188306 tier1 - - 63 0 0.00 129 17 11.64 LRRK2 0 genome.wustl.edu 37 12 40689290 40689290 + Silent SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 12 40689290 40689290 G A SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known silent c.2940 p.E980 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 61 0 0.00 17 17 50.00 LZTS1 0 genome.wustl.edu 37 8 20112381 20112381 + Frame_Shift_Del DEL G G - TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 8 20112381 20112381 G - DEL LZTS1 ENST00000265801 human ensembl 74_37 -1 known frame_shift_del c.312 p.K105fs 0.989 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 tier1 29 0 0.00 16 2 11.11 MACF1 0 genome.wustl.edu 37 1 39835766 39835766 + Nonsense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 39835766 39835766 C T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known nonsense c.6817 p.Q2273* 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 72 0 0.00 83 7 7.78 MAGEB6 0 genome.wustl.edu 37 X 26212543 26212543 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 26212543 26212543 G T SNP MAGEB6 ENST00000379034 human ensembl 74_37 +1 known missense c.580 p.A194S 0.434 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 tier1 - - 107 0 0.00 132 19 12.58 MALAT1 0 genome.wustl.edu 37 11 65266460 65266460 + RNA SNP T T A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 65266460 65266460 T A SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 76 0 0.00 71 12 14.46 MANEA 0 genome.wustl.edu 37 6 96053781 96053781 + Nonsense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 6 96053781 96053781 G T SNP MANEA ENST00000358812 human ensembl 74_37 +1 known nonsense c.889 p.G297* 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 tier1 - - 52 0 0.00 45 10 18.18 MANEA 0 genome.wustl.edu 37 6 96053793 96053793 + Frame_Shift_Del DEL G G - TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 6 96053793 96053793 G - DEL MANEA ENST00000358812 human ensembl 74_37 +1 known frame_shift_del c.901 p.A301fs 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 tier1 50 0 0.00 42 9 17.65 MANEA 0 genome.wustl.edu 37 6 96053797 96053797 + Missense_Mutation SNP T T C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 6 96053797 96053797 T C SNP MANEA ENST00000358812 human ensembl 74_37 +1 known missense c.905 p.L302P 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 tier1 - - 50 0 0.00 41 9 18.00 MC2R 0 genome.wustl.edu 37 18 13884645 13884645 + Silent SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 18 13884645 13884645 G T SNP MC2R ENST00000327606 human ensembl 74_37 -1 known silent c.873 p.I291 0.997 prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn - no_errors MC2R HGNC ENSG00000185231 tier1 - - 35 0 0.00 18 6 25.00 MCF2L2 0 genome.wustl.edu 37 3 182933848 182933848 + Nonsense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 3 182933848 182933848 G C SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known nonsense c.2405 p.S802* 0.081 superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 tier1 - - 69 0 0.00 67 18 21.18 MEI4 0 genome.wustl.edu 37 6 78633056 78633056 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 6 78633056 78633056 G T SNP MEI4 ENST00000602452 human ensembl 74_37 +1 novel missense c.1151 p.R384I 0.663 NULL NULL - no_errors MEI4 HGNC ENSG00000269964 tier1 - - 64 0 0.00 41 29 41.43 METAP2 0 genome.wustl.edu 37 12 95906601 95906601 + Missense_Mutation SNP A A G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 12 95906601 95906601 A G SNP METAP2 ENST00000323666 human ensembl 74_37 +1 known missense c.1093 p.T365A 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2 - no_errors METAP2 HGNC ENSG00000111142 tier1 - - 75 0 0.00 17 25 59.52 METTL21EP 0 genome.wustl.edu 37 13 103548145 103548145 + RNA SNP A A G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 13 103548145 103548145 A G SNP METTL21EP ENST00000605100 human ensembl 74_37 +1 known rna NULL NULL 0.492 - - - no_errors METTL21EP HGNC ENSG00000250878 8 0 0.00 1 2 66.67 MGC21881 0 genome.wustl.edu 37 9 66554111 66554111 + RNA SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 9 66554111 66554111 C T SNP MGC21881 ENST00000305709 human ensembl 74_37 +1 known rna NULL NULL 0.543 - - - no_errors RP11-262H14.4 Clone_based_vega_gene ENSG00000170161 tier1 - - 15 0 0.00 3 2 40.00 MLLT10 0 genome.wustl.edu 37 10 22015215 22015215 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 10 22015215 22015215 C T SNP MLLT10 ENST00000307729 human ensembl 74_37 +1 known missense c.1921 p.H641Y 0.966 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 tier1 - - 58 0 0.00 21 5 19.23 MOSPD2 0 genome.wustl.edu 37 X 14921105 14921105 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 14921105 14921105 G C SNP MOSPD2 ENST00000380492 human ensembl 74_37 +1 known missense c.556 p.D186H 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_MSP_dom,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_MSP_dom - no_errors MOSPD2 HGNC ENSG00000130150 tier1 - - 170 0 0.00 173 25 12.63 MT-CO2 0 genome.wustl.edu 37 MT 8009 8009 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 MT 8009 8009 G A SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known missense c.424 p.V142M NULL pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 tier1 rs199474826 - 542 0 0.00 38 201 84.10 MUC12 0 genome.wustl.edu 37 7 100637250 100637250 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 7 100637250 100637250 C G SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.3406 p.P1136A 0.000 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 74 0 0.00 38 12 24.00 MUC16 0 genome.wustl.edu 37 19 9003588 9003588 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 19 9003588 9003588 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.40052 p.T13351M 0.013 pfam_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 81 0 0.00 52 8 13.33 MXRA5 0 genome.wustl.edu 37 X 3248082 3248082 + Frame_Shift_Del DEL A A - TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 3248082 3248082 A - DEL MXRA5 ENST00000217939 human ensembl 74_37 -1 known frame_shift_del c.686 p.L229fs 0.193 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 tier1 75 0 0.00 32 4 11.11 MYH15 0 genome.wustl.edu 37 3 108163547 108163547 + Silent SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 3 108163547 108163547 C T SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known silent c.2655 p.L885 0.994 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 tier1 - - 59 0 0.00 74 13 14.94 MYO15A 0 genome.wustl.edu 37 17 18023073 18023073 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 17 18023073 18023073 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.959 p.S320L 0.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 tier1 - - 158 0 0.00 72 23 24.21 NCOA2 0 genome.wustl.edu 37 8 71050559 71050559 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 8 71050559 71050559 C G SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.3037 p.E1013Q 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 tier1 - - 169 0 0.00 173 21 10.82 NCOA6 0 genome.wustl.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 20 33330968 33330970 TGC 0 DEL NCOA6 ENST00000359003 human ensembl 74_37 -1 known in_frame_del c.3092_3090 p.Q1032in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 38 0 0.00 21 4 16.00 NEB 0 genome.wustl.edu 37 2 152512796 152512796 + Silent SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 2 152512796 152512796 G T SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.6366 p.V2122 0.990 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 57 0 0.00 24 2 7.69 NELFB 0 genome.wustl.edu 37 9 140151336 140151336 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 9 140151336 140151336 G A SNP NELFB ENST00000343053 human ensembl 74_37 +1 known missense c.427 p.V143M 0.995 pfam_COBRA1 pfam_COBRA1 - no_errors NELFB HGNC ENSG00000188986 tier1 - - 29 0 0.00 16 3 15.79 NLRP12 0 genome.wustl.edu 37 19 54308650 54308650 + Silent SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 19 54308650 54308650 G A SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known silent c.2298 p.L766 0.007 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 tier1 - - 33 0 0.00 15 10 40.00 NLRP7 0 genome.wustl.edu 37 19 55450647 55450647 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 19 55450647 55450647 C T SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known missense c.1624 p.D542N 0.044 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 tier1 - - 39 0 0.00 16 6 27.27 NLRP9 0 genome.wustl.edu 37 19 56223887 56223887 + Frame_Shift_Del DEL T T - TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 19 56223887 56223887 T - DEL NLRP9 ENST00000332836 human ensembl 74_37 -1 known frame_shift_del c.2571 p.K857fs 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 tier1 24 0 0.00 22 2 8.33 NOS1 0 genome.wustl.edu 37 12 117655876 117655876 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 12 117655876 117655876 C T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.4264 p.E1422K 1.000 pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 - - 38 0 0.00 18 6 25.00 NR0B2 0 genome.wustl.edu 37 1 27240299 27240299 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 27240299 27240299 G A SNP NR0B2 ENST00000254227 human ensembl 74_37 -1 known missense c.133 p.R45W 0.894 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B2 HGNC ENSG00000131910 tier1 - - 47 0 0.00 19 20 51.28 NRDE2 0 genome.wustl.edu 37 14 90756756 90756756 + Missense_Mutation SNP A A T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 14 90756756 90756756 A T SNP NRDE2 ENST00000354366 human ensembl 74_37 -1 known missense c.2038 p.F680I 0.000 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 tier1 - - 53 0 0.00 59 15 20.27 OFD1 0 genome.wustl.edu 37 X 13770835 13770835 + Silent SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 13770835 13770835 G A SNP OFD1 ENST00000398395 human ensembl 74_37 +1 known silent c.1068 p.L356 0.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 tier1 - - 60 0 0.00 63 4 5.97 OR10A2 0 genome.wustl.edu 37 11 6891244 6891244 + Nonsense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 6891244 6891244 C T SNP OR10A2 ENST00000307322 human ensembl 74_37 +1 known nonsense c.259 p.Q87* 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A2 HGNC ENSG00000170790 tier1 - - 43 0 0.00 29 11 27.50 OR52E6 0 genome.wustl.edu 37 11 5862196 5862196 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 5862196 5862196 G T SNP OR52E6 ENST00000379946 human ensembl 74_37 -1 known missense c.944 p.T315K 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E6 HGNC ENSG00000205409 tier1 - - 54 0 0.00 12 17 58.62 OR52K1 0 genome.wustl.edu 37 11 4510699 4510699 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 4510699 4510699 C T SNP OR52K1 ENST00000307632 human ensembl 74_37 +1 known missense c.569 p.A190V 0.902 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 OR52K1 HGNC ENSG00000196778 63 0 0.00 41 4 8.70 OR52N1 0 genome.wustl.edu 37 11 5809409 5809409 + Missense_Mutation SNP A A G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 5809409 5809409 A G SNP OR52N1 ENST00000317078 human ensembl 74_37 -1 known missense c.638 p.I213T 0.785 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N1 HGNC ENSG00000181001 tier1 - - 33 0 0.00 16 8 33.33 OR5B21 0 genome.wustl.edu 37 11 58275221 58275221 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 58275221 58275221 G A SNP OR5B21 ENST00000360374 human ensembl 74_37 -1 known missense c.358 p.R120C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B21 HGNC ENSG00000198283 tier1 - - 18 0 0.00 12 5 29.41 OR5D16 0 genome.wustl.edu 37 11 55606363 55606363 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 55606363 55606363 G T SNP OR5D16 ENST00000378396 human ensembl 74_37 +1 known missense c.136 p.G46W 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D16 HGNC ENSG00000205029 tier1 - - 92 0 0.00 46 22 32.35 P2RX4 0 genome.wustl.edu 37 12 121670443 121670443 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 12 121670443 121670443 G T SNP P2RX4 ENST00000337233 human ensembl 74_37 +1 known missense c.1008 p.M336I 1.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X4_purnocptor,prints_P2X_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX4 HGNC ENSG00000135124 tier1 - - 22 0 0.00 11 3 21.43 PAK3 0 genome.wustl.edu 37 X 110406853 110406853 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 110406853 110406853 C T SNP PAK3 ENST00000360648 human ensembl 74_37 +1 known missense c.772 p.P258S 0.952 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK3 HGNC ENSG00000077264 tier1 - - 81 0 0.00 31 9 22.50 PAM 0 genome.wustl.edu 37 5 102363888 102363888 + Splice_Site SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 5 102363888 102363888 G T SNP PAM ENST00000438793 human ensembl 74_37 +1 known splice_site c.2690-1 e24-1 1.000 - - - no_errors PAM HGNC ENSG00000145730 tier1 - - 30 0 0.00 50 4 7.41 PCDH1 0 genome.wustl.edu 37 5 141243774 141243774 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 5 141243774 141243774 C T SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known missense c.2122 p.E708K 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 tier1 - - 19 0 0.00 11 10 47.62 PCDHGA6 0 genome.wustl.edu 37 5 140755585 140755585 + Silent SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 5 140755585 140755585 C T SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known silent c.1935 p.A645 0.012 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 PCDHGA6 HGNC ENSG00000253731 tier1 - - 96 0 0.00 48 36 42.86 PCDHGA6 0 genome.wustl.edu 37 5 140755848 140755848 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 5 140755848 140755848 C T SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known missense c.2198 p.A733V 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 tier1 - - 102 0 0.00 44 27 38.03 PDE4C 0 genome.wustl.edu 37 19 18322638 18322638 + Silent SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 19 18322638 18322638 G A SNP PDE4C ENST00000355502 human ensembl 74_37 -1 known silent c.1722 p.R574 0.778 pfam_PDEase_catalytic_dom,prints_PDEase pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4C HGNC ENSG00000105650 tier1 - - 26 0 0.00 18 5 21.74 PIEZO1 0 genome.wustl.edu 37 16 88790293 88790293 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 16 88790293 88790293 G T SNP PIEZO1 ENST00000301015 human ensembl 74_37 -1 novel missense c.4321 p.Q1441K 0.998 NULL pfam_Piezo - no_errors PIEZO1 HGNC ENSG00000103335 tier1 - - 57 0 0.00 55 5 8.33 PKHD1L1 0 genome.wustl.edu 37 8 110408292 110408292 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 8 110408292 110408292 G A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.848 p.R283Q 0.280 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 rs199719733 - 80 0 0.00 64 12 15.79 PKHD1L1 0 genome.wustl.edu 37 8 110471942 110471942 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 8 110471942 110471942 G C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.7123 p.D2375H 1.000 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 115 0 0.00 138 12 8.00 PLCG1 0 genome.wustl.edu 37 20 39795158 39795158 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 20 39795158 39795158 G T SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known missense c.2043 p.M681I 1.000 pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,pirsf_PLC-gamma,pfscan_SH2,prints_SH2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 tier1 - - 17 0 0.00 12 6 33.33 PLIN4 0 genome.wustl.edu 37 19 4512994 4512994 + Silent SNP A A G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 19 4512994 4512994 A G SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel silent c.936 p.S312 0.000 superfamily_Ankyrin_rpt-contain_dom pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 20 0 0.00 22 3 12.00 PLXND1 0 genome.wustl.edu 37 3 129279267 129279267 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 3 129279267 129279267 G A SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.5039 p.T1680M 0.971 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,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 PLXND1 HGNC ENSG00000004399 tier1 - - 41 0 0.00 40 12 23.08 PNISR 0 genome.wustl.edu 37 6 99848036 99848036 + RNA DEL A A - TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 6 99848036 99848036 A - DEL PNISR ENST00000481229 human ensembl 74_37 -1 known rna NULL NULL 0.986 - - - no_errors PNISR HGNC ENSG00000132424 tier1 68 0 0.00 53 8 13.11 POGLUT1 0 genome.wustl.edu 37 3 119204210 119204210 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 3 119204210 119204210 C G SNP POGLUT1 ENST00000295588 human ensembl 74_37 +1 known missense c.614 p.S205C 0.996 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,smart_LipoPS_modifying - no_errors POGLUT1 HGNC ENSG00000163389 tier1 - - 123 0 0.00 165 21 11.29 POLQ 0 genome.wustl.edu 37 3 121230769 121230769 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 3 121230769 121230769 C T SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.1576 p.E526K 1.000 pfscan_Helicase_C pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 tier1 - - 89 0 0.00 89 20 18.35 PON3 0 genome.wustl.edu 37 7 95001650 95001650 + Nonsense_Mutation SNP C C A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 7 95001650 95001650 C A SNP PON3 ENST00000265627 human ensembl 74_37 -1 known nonsense c.202 p.G68* 1.000 NULL pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON3 HGNC ENSG00000105852 tier1 - - 62 0 0.00 64 4 5.88 POT1 0 genome.wustl.edu 37 7 124481087 124481087 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 7 124481087 124481087 G C SNP POT1 ENST00000357628 human ensembl 74_37 -1 known missense c.1309 p.H437D 1.000 NULL pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 - no_errors POT1 HGNC ENSG00000128513 tier1 - - 44 0 0.00 32 12 27.27 PRB2 0 genome.wustl.edu 37 12 11546642 11546642 + Nonsense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 12 11546642 11546642 G A SNP PRB2 ENST00000389362 human ensembl 74_37 -1 known nonsense c.370 p.Q124* 0.318 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 tier1 - - 237 0 0.00 145 14 8.75 PRKDC 0 genome.wustl.edu 37 8 48866215 48866215 + Nonsense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 8 48866215 48866215 G C SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known nonsense c.686 p.S229* 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 PRKDC HGNC ENSG00000253729 tier1 - - 36 0 0.00 39 9 18.75 PRPF38A 0 genome.wustl.edu 37 1 52871486 52871486 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 52871486 52871486 G C SNP PRPF38A ENST00000257181 human ensembl 74_37 +1 known missense c.265 p.E89Q 1.000 pfam_PRP38 pfam_PRP38 - no_errors PRPF38A HGNC ENSG00000134748 tier1 - - 62 0 0.00 69 16 18.82 PRR14L 0 genome.wustl.edu 37 22 32112599 32112599 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 22 32112599 32112599 C G SNP PRR14L ENST00000397493 human ensembl 74_37 -1 known missense c.1226 p.R409T 0.004 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 tier1 - - 73 0 0.00 75 17 18.48 PRSS27 0 genome.wustl.edu 37 16 2763677 2763677 + Silent SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 16 2763677 2763677 G T SNP PRSS27 ENST00000302641 human ensembl 74_37 -1 known silent c.531 p.I177 0.057 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS27 HGNC ENSG00000172382 20 0 0.00 14 2 12.50 PRSS36 0 genome.wustl.edu 37 16 31151696 31151696 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 16 31151696 31151696 G C SNP PRSS36 ENST00000268281 human ensembl 74_37 -1 known missense c.2208 p.I736M 0.999 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 tier1 - - 77 0 0.00 36 16 30.77 PTCH2 0 genome.wustl.edu 37 1 45292420 45292420 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 45292420 45292420 C G SNP PTCH2 ENST00000372192 human ensembl 74_37 -1 known missense c.2716 p.E906Q 1.000 tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 tier1 - - 25 0 0.00 8 18 69.23 PTPLAD1 0 genome.wustl.edu 37 15 65855215 65855215 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 15 65855215 65855215 G C SNP PTPLAD1 ENST00000261875 human ensembl 74_37 +1 known missense c.525 p.L175F 0.931 NULL pfam_Tyr_Pase-like_PTPLA,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors PTPLAD1 HGNC ENSG00000074696 tier1 - - 122 0 0.00 77 25 24.51 PTPLAD1 0 genome.wustl.edu 37 15 65856552 65856552 + Splice_Site SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 15 65856552 65856552 G C SNP PTPLAD1 ENST00000261875 human ensembl 74_37 +1 known splice_site c.533-1 e7-1 1.000 - - - no_errors PTPLAD1 HGNC ENSG00000074696 tier1 - - 47 0 0.00 26 5 16.13 PTPN18 0 genome.wustl.edu 37 2 131117002 131117002 + Silent SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 2 131117002 131117002 G A SNP PTPN18 ENST00000175756 human ensembl 74_37 +1 known silent c.312 p.T104 0.003 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN18 HGNC ENSG00000072135 tier1 - - 49 0 0.00 36 4 10.00 RAPGEF2 0 genome.wustl.edu 37 4 160268112 160268112 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 4 160268112 160268112 C T SNP RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known missense c.3191 p.S1064L 0.995 NULL pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 tier1 - - 74 0 0.00 38 10 20.83 RBBP6 0 genome.wustl.edu 37 16 24581206 24581206 + Silent SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 16 24581206 24581206 G A SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known silent c.3195 p.E1065 1.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 tier1 - - 65 0 0.00 34 26 43.33 RBL2 0 genome.wustl.edu 37 16 53499461 53499461 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 16 53499461 53499461 C T SNP RBL2 ENST00000262133 human ensembl 74_37 +1 known missense c.1810 p.P604S 0.993 pfam_RB_A,superfamily_Cyclin-like pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL2 HGNC ENSG00000103479 tier1 - - 181 0 0.00 109 64 36.99 RFPL2 0 genome.wustl.edu 37 22 32587270 32587270 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 22 32587270 32587270 C T SNP RFPL2 ENST00000400237 human ensembl 74_37 -1 known missense c.626 p.R209Q 0.015 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors RFPL2 HGNC ENSG00000128253 tier1 - - 73 0 0.00 38 52 57.78 SCAMP1 0 genome.wustl.edu 37 5 77772628 77772628 + RNA DEL A A - TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 5 77772628 77772628 A - DEL SCAMP1 ENST00000320280 human ensembl 74_37 +1 known rna NULL NULL 0.109 - - - no_errors SCAMP1 HGNC ENSG00000085365 tier1 36 0 0.00 24 3 11.11 SCARNA9 0 genome.wustl.edu 37 11 93454868 93454868 + RNA SNP A A G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 93454868 93454868 A G SNP SCARNA9 ENST00000530422 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SCARNA9 HGNC ENSG00000254911 36 0 0.00 60 6 9.09 SCARNA9 0 genome.wustl.edu 37 11 93454869 93454869 + RNA SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 93454869 93454869 C T SNP SCARNA9 ENST00000530422 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SCARNA9 HGNC ENSG00000254911 35 0 0.00 63 4 5.97 SCFD2 0 genome.wustl.edu 37 4 54231952 54231952 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 4 54231952 54231952 C G SNP SCFD2 ENST00000401642 human ensembl 74_37 -1 known missense c.157 p.D53H 0.394 NULL pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD2 HGNC ENSG00000184178 tier1 - - 39 0 0.00 35 10 22.22 SEPT12 0 genome.wustl.edu 37 16 4838399 4838399 + RNA SNP C C A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 16 4838399 4838399 C A SNP SEPT12 ENST00000591861 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SEPT12 HGNC ENSG00000140623 tier1 - - 21 0 0.00 13 6 31.58 SETD3 0 genome.wustl.edu 37 14 99870582 99870582 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 14 99870582 99870582 C T SNP SETD3 ENST00000331768 human ensembl 74_37 -1 known missense c.1157 p.R386Q 1.000 pfam_Rubisco_LSMT_subst-bd,superfamily_Rubisco_LSMT_subst-bd pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd - no_errors SETD3 HGNC ENSG00000183576 tier1 - - 62 0 0.00 42 13 23.64 SETX 0 genome.wustl.edu 37 9 135158548 135158549 + RNA DEL AA AA - TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 9 135158548 135158549 AA - DEL SETX ENST00000474172 human ensembl 74_37 -1 known rna NULL NULL 0.010:0.003 - - - no_errors SETX HGNC ENSG00000107290 tier1 31 0 0.00 29 2 6.45 SGSM1 0 genome.wustl.edu 37 22 25280128 25280128 + Missense_Mutation SNP C C A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 22 25280128 25280128 C A SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known missense c.1769 p.T590K 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 tier1 - - 36 0 0.00 30 9 23.08 SH3D21 0 genome.wustl.edu 37 1 36785719 36785719 + Silent SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 36785719 36785719 C T SNP SH3D21 ENST00000453908 human ensembl 74_37 +1 known silent c.1455 p.V485 0.011 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors SH3D21 HGNC ENSG00000214193 tier1 - - 72 0 0.00 38 13 25.49 SIGIRR 0 genome.wustl.edu 37 11 406070 406070 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 406070 406070 G C SNP SIGIRR ENST00000382520 human ensembl 74_37 -1 known missense c.1348 p.P450A 0.006 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors SIGIRR HGNC ENSG00000185187 tier1 - - 34 0 0.00 18 12 40.00 SIGLEC5 0 genome.wustl.edu 37 19 52133213 52133213 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 19 52133213 52133213 C G SNP SIGLEC5 ENST00000570106 human ensembl 74_37 -1 known missense c.294 p.K98N 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 tier1 - - 18 0 0.00 9 3 25.00 SIPA1L2 0 genome.wustl.edu 37 1 232650439 232650439 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 232650439 232650439 C T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.647 p.R216Q 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 tier1 - - 40 0 0.00 16 5 23.81 SLC7A2 0 genome.wustl.edu 37 8 17412489 17412489 + Silent SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 8 17412489 17412489 C T SNP SLC7A2 ENST00000398090 human ensembl 74_37 +1 known silent c.1210 p.L404 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 tier1 - - 70 0 0.00 17 10 37.04 SLFNL1 0 genome.wustl.edu 37 1 41483370 41483370 + Silent SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 41483370 41483370 G T SNP SLFNL1 ENST00000302946 human ensembl 74_37 -1 known silent c.894 p.P298 0.066 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4 - no_errors SLFNL1 HGNC ENSG00000171790 31 0 0.00 29 3 9.38 SLITRK3 0 genome.wustl.edu 37 3 164907208 164907208 + Silent SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 3 164907208 164907208 G A SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known silent c.1411 p.L471 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 tier1 - - 50 0 0.00 101 9 8.18 SMARCA5 0 genome.wustl.edu 37 4 144459835 144459835 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 4 144459835 144459835 G T SNP SMARCA5 ENST00000283131 human ensembl 74_37 +1 known missense c.1588 p.D530Y 1.000 pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC ENSG00000153147 104 0 0.00 57 4 6.56 SNORD115-41 0 genome.wustl.edu 37 15 25490689 25490689 + RNA SNP A A C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 15 25490689 25490689 A C SNP SNORD115-41 ENST00000363608 human ensembl 74_37 +1 known rna NULL NULL 0.965 - - - no_errors SNORD115-41 HGNC ENSG00000200478 tier1 - - 68 0 0.00 23 13 36.11 SPANXC 0 genome.wustl.edu 37 X 140336535 140336535 + Missense_Mutation SNP T T A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 140336535 140336535 T A SNP SPANXC ENST00000358993 human ensembl 74_37 -1 known missense c.56 p.N19I 0.001 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXC HGNC ENSG00000198573 tier1 - - 387 0 0.00 183 48 20.69 SPOCK3 0 genome.wustl.edu 37 4 167655806 167655806 + RNA SNP A A C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 4 167655806 167655806 A C SNP SPOCK3 ENST00000507137 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SPOCK3 HGNC ENSG00000196104 tier1 - - 39 0 0.00 15 8 34.78 SPPL3 0 genome.wustl.edu 37 12 121220483 121220483 + Silent SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 12 121220483 121220483 G T SNP SPPL3 ENST00000353487 human ensembl 74_37 -1 known silent c.477 p.L159 1.000 pfam_Peptidase_A22B_SPP,smart_Preselin/SPP pfam_Peptidase_A22B_SPP,smart_Preselin/SPP - no_errors SPPL3 HGNC ENSG00000157837 tier1 - - 60 0 0.00 52 4 7.14 SRCAP 0 genome.wustl.edu 37 16 30749318 30749318 + Nonsense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 16 30749318 30749318 G T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known nonsense c.7957 p.E2653* 0.999 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 12 0 0.00 7 7 50.00 SRRM2 0 genome.wustl.edu 37 16 2816501 2816501 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 16 2816501 2816501 G T SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.5972 p.R1991L 0.404 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 33 0 0.00 22 3 12.00 ST6GALNAC3 0 genome.wustl.edu 37 1 77094397 77094397 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 77094397 77094397 G A SNP ST6GALNAC3 ENST00000328299 human ensembl 74_37 +1 known missense c.824 p.G275E 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC3 HGNC ENSG00000184005 tier1 - - 60 0 0.00 27 30 52.63 STAMBPL1 0 genome.wustl.edu 37 10 90672913 90672913 + Missense_Mutation SNP C C A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 10 90672913 90672913 C A SNP STAMBPL1 ENST00000371927 human ensembl 74_37 +1 known missense c.476 p.A159E 0.959 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBPL1 HGNC ENSG00000138134 tier1 - - 49 0 0.00 43 4 8.51 STARD9 0 genome.wustl.edu 37 15 42985567 42985567 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 15 42985567 42985567 C T SNP STARD9 ENST00000290607 human ensembl 74_37 +1 known missense c.11791 p.H3931Y 0.002 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 tier1 - - 43 0 0.00 26 7 21.21 SUPT6H 0 genome.wustl.edu 37 17 27023872 27023872 + Silent SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 17 27023872 27023872 G A SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known silent c.3981 p.K1327 1.000 pirsf_TF_Spt6,pfscan_SH2 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 36 0 0.00 7 2 22.22 SUV420H1 0 genome.wustl.edu 37 11 67957421 67957421 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 67957421 67957421 C G SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known missense c.123 p.K41N 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 tier1 - - 67 0 0.00 80 89 52.66 SYNDIG1L 0 genome.wustl.edu 37 14 74876117 74876117 + Missense_Mutation SNP C C A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 14 74876117 74876117 C A SNP SYNDIG1L ENST00000331628 human ensembl 74_37 -1 known missense c.331 p.A111S 0.001 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1L HGNC ENSG00000183379 tier1 - - 44 0 0.00 38 9 19.15 SYT4 0 genome.wustl.edu 37 18 40850370 40850370 + Nonsense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 18 40850370 40850370 C T SNP SYT4 ENST00000255224 human ensembl 74_37 -1 known nonsense c.1214 p.W405* 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 tier1 - - 32 0 0.00 23 4 14.81 TAF1 0 genome.wustl.edu 37 X 70612510 70612510 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 70612510 70612510 C T SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.2870 p.T957M 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 tier1 - - 72 0 0.00 28 10 26.32 TAF1D 0 genome.wustl.edu 37 11 93469859 93469859 + Splice_Site SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 93469859 93469859 C G SNP TAF1D ENST00000323981 human ensembl 74_37 -1 known splice_site c.693+1 e4+1 1.000 - - - no_errors TAF1D HGNC ENSG00000166012 tier1 - - 41 0 0.00 68 6 8.11 TAS2R30 0 genome.wustl.edu 37 12 11286602 11286602 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 12 11286602 11286602 C T SNP TAS2R30 ENST00000539585 human ensembl 74_37 -1 known missense c.242 p.R81K 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R30 HGNC ENSG00000256188 tier1 - - 97 0 0.00 63 21 25.00 TCF4 0 genome.wustl.edu 37 18 52896218 52896218 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 18 52896218 52896218 C T SNP TCF4 ENST00000398339 human ensembl 74_37 -1 known missense c.2045 p.R682Q 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 TCF4 HGNC ENSG00000196628 tier1 rs121909121 - 36 0 0.00 29 14 32.56 TCN2 0 genome.wustl.edu 37 22 31019043 31019043 + Nonsense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 22 31019043 31019043 C T SNP TCN2 ENST00000215838 human ensembl 74_37 +1 known nonsense c.1195 p.R399* 1.000 NULL pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors TCN2 HGNC ENSG00000185339 tier1 - - 67 0 0.00 46 6 11.54 TERF2IP 0 genome.wustl.edu 37 16 75690378 75690378 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 16 75690378 75690378 G C SNP TERF2IP ENST00000300086 human ensembl 74_37 +1 known missense c.1069 p.D357H 1.000 NULL pfam_Rap1_Myb_dom,superfamily_Homeodomain-like,superfamily_BRCT_dom - no_errors TERF2IP HGNC ENSG00000166848 tier1 - - 44 0 0.00 30 18 37.50 TFCP2L1 0 genome.wustl.edu 37 2 121995273 121995273 + Nonsense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 2 121995273 121995273 G T SNP TFCP2L1 ENST00000263707 human ensembl 74_37 -1 known nonsense c.929 p.S310* 1.000 superfamily_SAM/pointed pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2L1 HGNC ENSG00000115112 30 0 0.00 7 2 22.22 THPO 0 genome.wustl.edu 37 3 184091254 184091254 + Silent SNP A A G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 3 184091254 184091254 A G SNP THPO ENST00000204615 human ensembl 74_37 -1 known silent c.345 p.S115 0.989 pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin - no_errors THPO HGNC ENSG00000090534 tier1 - - 55 0 0.00 49 9 15.52 TMED3 0 genome.wustl.edu 37 15 79614407 79614407 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 15 79614407 79614407 C T SNP TMED3 ENST00000299705 human ensembl 74_37 +1 known missense c.505 p.R169W 1.000 pfam_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED3 HGNC ENSG00000166557 tier1 - - 58 0 0.00 29 11 27.50 TMEM163 0 genome.wustl.edu 37 2 135215728 135215728 + Silent SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 2 135215728 135215728 C G SNP TMEM163 ENST00000281924 human ensembl 74_37 -1 known silent c.684 p.V228 1.000 NULL NULL - no_errors TMEM163 HGNC ENSG00000152128 tier1 - - 25 0 0.00 7 8 53.33 TMEM191A 0 genome.wustl.edu 37 22 21055369 21055369 + RNA DEL A A - TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 22 21055369 21055369 A - DEL TMEM191A ENST00000359859 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors TMEM191A HGNC ENSG00000226287 tier1 11 0 0.00 6 2 25.00 TMEM70 0 genome.wustl.edu 37 8 74893683 74893683 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 8 74893683 74893683 G C SNP TMEM70 ENST00000312184 human ensembl 74_37 +1 known missense c.610 p.D204H 0.117 pfam_DUF1301_TMEM70 pfam_DUF1301_TMEM70 - no_errors TMEM70 HGNC ENSG00000175606 tier1 - - 45 0 0.00 52 14 21.21 TNIP1 0 genome.wustl.edu 37 5 150410288 150410288 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 5 150410288 150410288 C G SNP TNIP1 ENST00000315050 human ensembl 74_37 -1 known missense c.1897 p.E633Q 0.047 NULL superfamily_ARM-type_fold - no_errors TNIP1 HGNC ENSG00000145901 43 0 0.00 37 5 11.90 TP53 0 genome.wustl.edu 37 17 7576652 7576652 + Silent SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 17 7576652 7576652 C T SNP TP53 ENST00000420246 human ensembl 74_37 -1 known silent c.999 p.Q333 0.131 NULL pfam_p53_DNA-bd,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 57 0 0.00 31 13 29.55 TP53 0 genome.wustl.edu 37 17 7578442 7578442 + Missense_Mutation SNP T T C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 17 7578442 7578442 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.488 p.Y163C 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 rs148924904 - 18 0 0.00 13 13 50.00 TRIM49B 0 genome.wustl.edu 37 11 49059204 49059204 + Missense_Mutation SNP T T A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 49059204 49059204 T A SNP TRIM49B ENST00000332682 human ensembl 74_37 +1 known missense c.1034 p.V345D 0.524 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49B HGNC ENSG00000182053 tier1 - - 201 0 0.00 139 26 15.76 TTN 0 genome.wustl.edu 37 2 179486304 179486304 + Silent SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 2 179486304 179486304 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.37543 p.R12515 0.489 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 36 0 0.00 25 2 7.41 TXNL4A 0 genome.wustl.edu 37 18 77733717 77733717 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 18 77733717 77733717 G A SNP TXNL4A ENST00000269601 human ensembl 74_37 -1 known missense c.397 p.P133S 1.000 pfam_mRNA_splic_U5,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 - no_errors TXNL4A HGNC ENSG00000141759 tier1 - - 48 0 0.00 30 14 31.82 UBAP2L 0 genome.wustl.edu 37 1 154215741 154215741 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 154215741 154215741 C G SNP UBAP2L ENST00000361546 human ensembl 74_37 +1 known missense c.805 p.L269V 1.000 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC ENSG00000143569 tier1 - - 83 0 0.00 33 32 49.23 UBQLN4 0 genome.wustl.edu 37 1 156018300 156018300 + Silent SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 156018300 156018300 G T SNP UBQLN4 ENST00000368309 human ensembl 74_37 -1 known silent c.892 p.R298 0.976 NULL pfam_Ubiquitin_dom,pfam_UBA/Ts_N,pfam_Rad60/SUMO_like,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN4 HGNC ENSG00000160803 tier1 - - 51 0 0.00 48 4 7.69 UNC13C 0 genome.wustl.edu 37 15 54307496 54307496 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 15 54307496 54307496 C G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.2396 p.S799C 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 40 0 0.00 18 9 33.33 UNC13C 0 genome.wustl.edu 37 15 54542505 54542505 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 15 54542505 54542505 C T SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.3311 p.T1104M 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 35 0 0.00 21 4 16.00 UNC13C 0 genome.wustl.edu 37 15 54614270 54614270 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 15 54614270 54614270 C G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.4402 p.R1468G 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 76 0 0.00 44 7 13.73 UPB1 0 genome.wustl.edu 37 22 24896222 24896222 + Silent SNP C C A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 22 24896222 24896222 C A SNP UPB1 ENST00000326010 human ensembl 74_37 +1 known silent c.252 p.P84 0.001 superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors UPB1 HGNC ENSG00000100024 tier1 - - 20 0 0.00 11 10 47.62 USP24 0 genome.wustl.edu 37 1 55643796 55643796 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 55643796 55643796 C T SNP USP24 ENST00000294383 human ensembl 74_37 -1 novel missense c.334 p.E112K 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 tier1 - - 189 0 0.00 160 33 17.10 USP36 0 genome.wustl.edu 37 17 76795028 76795028 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 17 76795028 76795028 C T SNP USP36 ENST00000312010 human ensembl 74_37 -1 known missense c.3202 p.V1068M 0.997 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP36 HGNC ENSG00000055483 34 0 0.00 17 2 10.53 USP6NL 0 genome.wustl.edu 37 10 11505038 11505038 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 10 11505038 11505038 G A SNP USP6NL ENST00000379237 human ensembl 74_37 -1 known missense c.1958 p.P653L 0.987 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors USP6NL HGNC ENSG00000148429 tier1 - - 106 0 0.00 57 19 25.00 VPS13D 0 genome.wustl.edu 37 1 12378163 12378163 + Missense_Mutation SNP C C A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 1 12378163 12378163 C A SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.7183 p.L2395I 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 tier1 - - 52 0 0.00 34 12 26.09 WAC 0 genome.wustl.edu 37 10 28821727 28821727 + RNA SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 10 28821727 28821727 C G SNP WAC ENST00000528491 human ensembl 74_37 +1 known rna NULL NULL 0.137 - - - no_errors WAC HGNC ENSG00000095787 tier1 - - 83 0 0.00 27 11 28.95 WSCD2 0 genome.wustl.edu 37 12 108618549 108618549 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 12 108618549 108618549 G A SNP WSCD2 ENST00000261400 human ensembl 74_37 +1 known missense c.716 p.R239K 0.992 pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 tier1 - - 16 0 0.00 10 6 37.50 XIST 0 genome.wustl.edu 37 X 73070744 73070744 + RNA SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 X 73070744 73070744 G A SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 52 0 0.00 17 13 43.33 XRCC5 0 genome.wustl.edu 37 2 217024864 217024864 + Missense_Mutation SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 2 217024864 217024864 G T SNP XRCC5 ENST00000392132 human ensembl 74_37 +1 known missense c.1744 p.A582S 1.000 superfamily_Ku_PK_bind pfam_Ku_N,pfam_Ku_PK_bind,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,superfamily_SPOC_like_C_dom,superfamily_Ku_PK_bind,smart_VWF_A,smart_Ku70/Ku80_beta-barrel_dom - no_errors XRCC5 HGNC ENSG00000079246 tier1 - - 85 0 0.00 67 5 6.94 ZAK 0 genome.wustl.edu 37 2 174074471 174074471 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 2 174074471 174074471 C G SNP ZAK ENST00000375213 human ensembl 74_37 +1 known missense c.759 p.F253L 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_gn ENSG00000091436 tier1 - - 31 0 0.00 8 9 52.94 ZC3H13 0 genome.wustl.edu 37 13 46538007 46538010 + Frame_Shift_Del DEL TTTC TTTC - TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 TTTC TTTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 13 46538007 46538010 TTTC - DEL ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_del c.4642_4639 p.E1547fs 1.000:1.000:1.000:1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 tier1 102 0 0.00 65 15 18.75 ZDBF2 0 genome.wustl.edu 37 2 207172018 207172018 + Silent SNP C C A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 2 207172018 207172018 C A SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known silent c.2766 p.I922 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 tier1 - - 66 0 0.00 38 11 22.45 ZDBF2 0 genome.wustl.edu 37 2 207174923 207174923 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 2 207174923 207174923 C G SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.5671 p.Q1891E 0.301 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 tier1 - - 40 0 0.00 23 4 14.81 ZDHHC8P1 0 genome.wustl.edu 37 22 23744334 23744334 + RNA SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 22 23744334 23744334 G A SNP ZDHHC8P1 ENST00000255890 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZDHHC8P1 HGNC ENSG00000133519 tier1 - - 84 0 0.00 70 4 5.41 ZFP91 0 genome.wustl.edu 37 11 58384873 58384873 + Silent SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 58384873 58384873 C T SNP ZFP91 ENST00000316059 human ensembl 74_37 +1 known silent c.1407 p.L469 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP91 HGNC ENSG00000186660 tier1 - - 15 0 0.00 19 12 38.71 ZHX1 0 genome.wustl.edu 37 8 124265591 124265591 + Missense_Mutation SNP G G A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 8 124265591 124265591 G A SNP ZHX1 ENST00000297857 human ensembl 74_37 -1 known missense c.2596 p.R866W 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 tier1 - - 70 0 0.00 103 8 7.21 ZNF250 0 genome.wustl.edu 37 8 146115388 146115388 + Silent SNP G G T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 8 146115388 146115388 G T SNP ZNF250 ENST00000292579 human ensembl 74_37 -1 known silent c.114 p.R38 0.045 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF250 HGNC ENSG00000196150 tier1 - - 47 0 0.00 55 4 6.78 ZNF259 0 genome.wustl.edu 37 11 116652907 116652907 + Missense_Mutation SNP C C G TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 11 116652907 116652907 C G SNP ZNF259 ENST00000227322 human ensembl 74_37 -1 known missense c.1146 p.E382D 0.986 pfam_Znf_ZPR1,smart_Znf_ZPR1,tigrfam_Znf_ZPR1 pfam_Znf_ZPR1,smart_Znf_ZPR1,tigrfam_Znf_ZPR1 - no_errors ZNF259 HGNC ENSG00000109917 tier1 - - 63 0 0.00 31 15 32.61 ZNF292 0 genome.wustl.edu 37 6 87965877 87965877 + Missense_Mutation SNP C C A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 6 87965877 87965877 C A SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.2530 p.Q844K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 tier1 - - 42 0 0.00 14 7 33.33 ZNF79 0 genome.wustl.edu 37 9 130206956 130206956 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 9 130206956 130206956 C T SNP ZNF79 ENST00000342483 human ensembl 74_37 +1 known missense c.977 p.T326I 0.970 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF79 HGNC ENSG00000196152 tier1 - - 64 0 0.00 30 4 11.76 ZNF804B 0 genome.wustl.edu 37 7 88847592 88847592 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 7 88847592 88847592 G C SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.232 p.D78H 1.000 pfam_Znf_C2H2_jaz pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 55 0 0.00 43 11 20.37 ZNF91 0 genome.wustl.edu 37 19 23544910 23544910 + Missense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 19 23544910 23544910 C T SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known missense c.871 p.E291K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 tier1 - - 99 0 0.00 75 12 13.79 ZNRF3 0 genome.wustl.edu 37 22 29446744 29446744 + Nonsense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bbffd8c8-f1a8-43d1-8064-a79678d11b20 f279b1d8-e75b-468c-b25d-587804a7ea13 22 29446744 29446744 C T SNP ZNRF3 ENST00000544604 human ensembl 74_37 +1 known nonsense c.2575 p.R859* 0.001 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF3 HGNC ENSG00000183579 tier1 - - 76 0 0.00 39 31 44.29