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 ABCB8 0 genome.wustl.edu 37 7 150725613 150725613 + Missense_Mutation SNP A A G TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 7 150725613 150725613 A G SNP ABCB8 ENST00000297504 human ensembl 74_37 +1 known missense c.11 p.H4R 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB8 HGNC ENSG00000197150 tier1 - - 71 0 0.00 22 5 18.52 ACAD11 0 genome.wustl.edu 37 3 132297707 132297707 + Missense_Mutation SNP C C T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 3 132297707 132297707 C T SNP ACAD11 ENST00000264990 human ensembl 74_37 -1 known missense c.1707 p.M569I 1.000 superfamily_AcylCoA_DH/oxidase_NM_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ENSG00000240303 tier1 - - 47 0 0.00 51 6 10.53 ACTR10 0 genome.wustl.edu 37 14 58678109 58678109 + Missense_Mutation SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 14 58678109 58678109 G T SNP ACTR10 ENST00000254286 human ensembl 74_37 +1 known missense c.442 p.V148L 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR10 HGNC ENSG00000131966 tier1 - - 26 0 0.00 35 4 10.26 ANGPT4 0 genome.wustl.edu 37 20 861854 861854 + Missense_Mutation SNP A A G TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 20 861854 861854 A G SNP ANGPT4 ENST00000381922 human ensembl 74_37 -1 known missense c.911 p.V304A 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 - - 44 0 0.00 24 6 20.00 ANKRD27 0 genome.wustl.edu 37 19 33134495 33134495 + Silent SNP G G A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 19 33134495 33134495 G A SNP ANKRD27 ENST00000306065 human ensembl 74_37 -1 known silent c.568 p.L190 0.888 NULL pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 tier1 - - 60 0 0.00 44 16 26.67 ANO6 0 genome.wustl.edu 37 12 45695847 45695847 + Missense_Mutation SNP A A T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 12 45695847 45695847 A T SNP ANO6 ENST00000425752 human ensembl 74_37 +1 known missense c.121 p.S41C 0.019 NULL pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 tier1 - - 63 0 0.00 54 15 21.74 ARHGAP5 0 genome.wustl.edu 37 14 32561316 32561316 + Nonsense_Mutation SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 14 32561316 32561316 G T SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known nonsense c.1441 p.E481* 1.000 superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 tier1 rs200628183 - 49 0 0.00 37 4 9.76 ARHGAP5 0 genome.wustl.edu 37 14 32561340 32561340 + Missense_Mutation SNP G G A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 14 32561340 32561340 G A SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.1465 p.E489K 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 tier1 rs78337553 - 53 0 0.00 40 10 20.00 ATG7 0 genome.wustl.edu 37 3 11372893 11372893 + Missense_Mutation SNP C C A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 3 11372893 11372893 C A SNP ATG7 ENST00000354449 human ensembl 74_37 +1 known missense c.758 p.A253D 1.000 tigrfam_Atg7 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7 - no_errors ATG7 HGNC ENSG00000197548 tier1 - - 77 0 0.00 38 13 25.49 ATM 0 genome.wustl.edu 37 11 108203581 108203581 + Silent SNP T T C TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 11 108203581 108203581 T C SNP ATM ENST00000278616 human ensembl 74_37 +1 known silent c.7881 p.Y2627 0.992 superfamily_Kinase-like_dom,superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 tier1 - - 30 0 0.00 24 10 29.41 BBX 0 genome.wustl.edu 37 3 107492014 107492014 + Silent SNP C C T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 3 107492014 107492014 C T SNP BBX ENST00000325805 human ensembl 74_37 +1 known silent c.1446 p.D482 1.000 NULL pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors BBX HGNC ENSG00000114439 25 0 0.00 25 2 7.41 BCAM 0 genome.wustl.edu 37 19 45322033 45322033 + Silent SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 19 45322033 45322033 G T SNP BCAM ENST00000270233 human ensembl 74_37 +1 known silent c.1230 p.S410 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 tier1 - - 42 0 0.00 53 4 7.02 BCL2 0 genome.wustl.edu 37 18 60795795 60795795 + RNA SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 18 60795795 60795795 G T SNP BCL2 ENST00000590515 human ensembl 74_37 -1 known rna NULL NULL 0.034 - - - no_errors BCL2 HGNC ENSG00000171791 tier1 - - 22 0 0.00 11 4 26.67 BLNK 0 genome.wustl.edu 37 10 97967644 97967644 + Missense_Mutation SNP G G A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 10 97967644 97967644 G A SNP BLNK ENST00000224337 human ensembl 74_37 -1 known missense c.758 p.T253M 0.045 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC ENSG00000095585 tier1 - - 35 0 0.00 30 4 11.76 BNC2 0 genome.wustl.edu 37 9 16419544 16419544 + Missense_Mutation SNP C C G TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 9 16419544 16419544 C G SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.2743 p.E915Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 tier1 - - 36 0 0.00 24 8 25.00 C1orf173 0 genome.wustl.edu 37 1 75039106 75039106 + Missense_Mutation SNP A A G TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 1 75039106 75039106 A G SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.2288 p.V763A 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 79 0 0.00 64 7 9.86 CBWD1 0 genome.wustl.edu 37 9 123687 123687 + RNA DEL G G - TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 9 123687 123687 G - DEL CBWD1 ENST00000464198 human ensembl 74_37 -1 known rna NULL NULL 0.041 - - - no_errors CBWD1 HGNC ENSG00000172785 tier1 12 0 0.00 14 6 30.00 CDC27 0 genome.wustl.edu 37 17 45235625 45235625 + Missense_Mutation SNP C C G TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 17 45235625 45235625 C G SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known missense c.422 p.S141T 1.000 smart_TPR_repeat pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 tier1 - - 12 0 0.00 20 11 35.48 CDK11A 0 genome.wustl.edu 37 1 1647791 1647791 + Missense_Mutation SNP C C T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 1 1647791 1647791 C T SNP CDK11A ENST00000404249 human ensembl 74_37 -1 known missense c.482 p.R161K 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 CDK11A HGNC ENSG00000008128 tier1 - - 80 0 0.00 72 8 10.00 CHGA 0 genome.wustl.edu 37 14 93398974 93398974 + Missense_Mutation SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 14 93398974 93398974 G T SNP CHGA ENST00000216492 human ensembl 74_37 +1 known missense c.1068 p.K356N 1.000 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGA HGNC ENSG00000100604 tier1 - - 38 0 0.00 41 4 8.89 CHRD 0 genome.wustl.edu 37 3 184102443 184102443 + Missense_Mutation SNP C C A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 3 184102443 184102443 C A SNP CHRD ENST00000204604 human ensembl 74_37 +1 known missense c.1559 p.A520D 0.823 smart_CHRD,pirsf_Chordin,pfscan_CHRD pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 tier1 - - 20 0 0.00 16 5 23.81 COPB2 0 genome.wustl.edu 37 3 139077077 139077077 + Missense_Mutation SNP T T C TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 3 139077077 139077077 T C SNP COPB2 ENST00000333188 human ensembl 74_37 -1 known missense c.2590 p.I864V 0.734 pirsf_COPB2 pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 tier1 - - 33 0 0.00 24 7 22.58 CSMD1 0 genome.wustl.edu 37 8 3200963 3200963 + Nonsense_Mutation SNP C C A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 8 3200963 3200963 C A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known nonsense c.3487 p.G1163* 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 65 0 0.00 29 11 27.50 DDX23 0 genome.wustl.edu 37 12 49229911 49229911 + Missense_Mutation SNP T T C TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 12 49229911 49229911 T C SNP DDX23 ENST00000308025 human ensembl 74_37 -1 known missense c.1375 p.I459V 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd 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 DDX23 HGNC ENSG00000174243 tier1 - - 35 0 0.00 12 8 40.00 DDX60 0 genome.wustl.edu 37 4 169138093 169138093 + Missense_Mutation SNP G G C TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 4 169138093 169138093 G C SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known missense c.5130 p.N1710K 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 tier1 - - 74 0 0.00 66 11 14.29 DHRS12 0 genome.wustl.edu 37 13 52364150 52364150 + Missense_Mutation SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 13 52364150 52364150 G T SNP DHRS12 ENST00000444610 human ensembl 74_37 -1 known missense c.445 p.L149M 0.015 pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors DHRS12 HGNC ENSG00000102796 43 0 0.00 29 2 6.45 DMTN 0 genome.wustl.edu 37 8 21938645 21938645 + Missense_Mutation SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 8 21938645 21938645 G T SNP DMTN ENST00000265800 human ensembl 74_37 +1 known missense c.1045 p.V349L 1.000 superfamily_Villin_headpiece,pfscan_Villin_headpiece pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors DMTN HGNC ENSG00000158856 tier1 - - 32 0 0.00 32 5 13.51 DNAH8 0 genome.wustl.edu 37 6 38874095 38874095 + Missense_Mutation SNP G G C TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 6 38874095 38874095 G C SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.8609 p.G2870A 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 tier1 - - 35 0 0.00 17 8 32.00 DPT 0 genome.wustl.edu 37 1 168698182 168698182 + Nonsense_Mutation SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 1 168698182 168698182 G T SNP DPT ENST00000367817 human ensembl 74_37 -1 known nonsense c.231 p.C77* 1.000 NULL NULL - no_errors DPT HGNC ENSG00000143196 45 0 0.00 40 3 6.98 ENSG00000224363 0 genome.wustl.edu 37 1 144090788 144090788 + RNA SNP C C A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 1 144090788 144090788 C A SNP ENSG00000224363 ENST00000441760 human ensembl 74_37 -1 known rna NULL NULL 0.850 - - - no_errors RP11-289H16.1 Clone_based_vega_gene ENSG00000224363 tier1 - - 33 0 0.00 28 4 12.50 ENSG00000227230 0 genome.wustl.edu 37 1 243303566 243303566 + RNA SNP A A C TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 1 243303566 243303566 A C SNP ENSG00000227230 ENST00000439562 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-261C10.5 Clone_based_vega_gene ENSG00000227230 tier1 - - 30 0 0.00 25 6 19.35 ERCC2 0 genome.wustl.edu 37 19 45860787 45860787 + Missense_Mutation SNP G G A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 19 45860787 45860787 G A SNP ERCC2 ENST00000391945 human ensembl 74_37 -1 known missense c.1322 p.S441L 1.000 superfamily_P-loop_NTPase,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DUF1227,pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors ERCC2 HGNC ENSG00000104884 tier1 - - 44 0 0.00 23 9 28.12 ETFDH 0 genome.wustl.edu 37 4 159624578 159624579 + Frame_Shift_Ins INS - - T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 4 159624578 159624579 - T INS ETFDH ENST00000511912 human ensembl 74_37 +1 known frame_shift_ins c.1120_1121 p.P375fs 1.000:1.000 NULL pfam_ETFD_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors ETFDH HGNC ENSG00000171503 tier1 67 0 0.00 41 10 19.61 FAM149A 0 genome.wustl.edu 37 4 187078796 187078796 + Missense_Mutation SNP G G A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 4 187078796 187078796 G A SNP FAM149A ENST00000356371 human ensembl 74_37 +1 known missense c.1525 p.D509N 0.006 NULL pfam_DUF3719 - no_errors FAM149A HGNC ENSG00000109794 tier1 - - 41 0 0.00 21 14 40.00 FANCI 0 genome.wustl.edu 37 15 89804864 89804864 + Missense_Mutation SNP A A G TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 15 89804864 89804864 A G SNP FANCI ENST00000310775 human ensembl 74_37 +1 known missense c.337 p.I113V 0.980 NULL NULL - no_errors FANCI HGNC ENSG00000140525 tier1 - - 34 0 0.00 28 7 20.00 FBXL16 0 genome.wustl.edu 37 16 747209 747209 + Missense_Mutation SNP C C T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 16 747209 747209 C T SNP FBXL16 ENST00000324361 human ensembl 74_37 -1 known missense c.197 p.R66Q 0.995 NULL superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL16 HGNC ENSG00000127585 8 0 0.00 2 2 50.00 FBXO11 0 genome.wustl.edu 37 2 48040404 48040405 + Frame_Shift_Ins INS - - TC TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 2 48040404 48040405 - TC INS FBXO11 ENST00000403359 human ensembl 74_37 -1 known frame_shift_ins c.2196_2195 p.D732fs 1.000:1.000 superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 pfam_Znf_N-recognin,pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 tier1 29 0 0.00 26 4 13.33 FGFR3 0 genome.wustl.edu 37 4 1807139 1807139 + Missense_Mutation SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 4 1807139 1807139 G T SNP FGFR3 ENST00000340107 human ensembl 74_37 +1 known missense c.1476 p.E492D 1.000 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR3 HGNC ENSG00000068078 34 0 0.00 21 4 16.00 FNDC9 0 genome.wustl.edu 37 5 156770149 156770149 + Silent SNP G G A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 5 156770149 156770149 G A SNP FNDC9 ENST00000312349 human ensembl 74_37 -1 known silent c.396 p.C132 0.990 NULL superfamily_Fibronectin_type3 - no_errors FNDC9 HGNC ENSG00000172568 tier1 - - 43 0 0.00 26 6 18.75 FTO 0 genome.wustl.edu 37 16 53860093 53860093 + Missense_Mutation SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 16 53860093 53860093 G T SNP FTO ENST00000471389 human ensembl 74_37 +1 known missense c.441 p.Q147H 0.220 NULL NULL - no_errors FTO HGNC ENSG00000140718 tier1 - - 27 0 0.00 16 11 40.74 GPBP1L1 0 genome.wustl.edu 37 1 46096321 46096321 + RNA SNP T T C TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 1 46096321 46096321 T C SNP GPBP1L1 ENST00000487436 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors GPBP1L1 HGNC ENSG00000159592 tier1 - - 50 0 0.00 41 15 26.79 GRM8 0 genome.wustl.edu 37 7 126173450 126173450 + Missense_Mutation SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 7 126173450 126173450 G T SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.1986 p.S662R 1.000 pfam_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 49 0 0.00 28 2 6.67 GYLTL1B 0 genome.wustl.edu 37 11 45949867 45949867 + Missense_Mutation SNP C C A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 11 45949867 45949867 C A SNP GYLTL1B ENST00000325468 human ensembl 74_37 +1 known missense c.1894 p.R632S 1.000 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 43 0 0.00 25 2 7.41 HELZ2 0 genome.wustl.edu 37 20 62203295 62203295 + RNA SNP G G A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 20 62203295 62203295 G A SNP HELZ2 ENST00000479540 human ensembl 74_37 -1 known rna NULL NULL 0.747 - - - no_errors HELZ2 HGNC ENSG00000130589 tier1 rs75418499 - 26 0 0.00 15 4 21.05 HMGB1P5 0 genome.wustl.edu 37 3 22424366 22424366 + RNA SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 3 22424366 22424366 G T SNP HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 10 0 0.00 0 3 100.00 HOXA3 0 genome.wustl.edu 37 7 27148113 27148113 + Silent SNP C C T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 7 27148113 27148113 C T SNP HOXA3 ENST00000317201 human ensembl 74_37 -1 known silent c.753 p.K251 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 tier1 - - 53 0 0.00 39 24 38.10 HS6ST1 0 genome.wustl.edu 37 2 129075877 129075877 + Missense_Mutation SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 2 129075877 129075877 G T SNP HS6ST1 ENST00000259241 human ensembl 74_37 -1 known missense c.261 p.D87E 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST1 HGNC ENSG00000136720 tier1 rs200979099 - 10 0 0.00 14 9 39.13 IDE 0 genome.wustl.edu 37 10 94291633 94291633 + Missense_Mutation SNP C C A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 10 94291633 94291633 C A SNP IDE ENST00000265986 human ensembl 74_37 -1 known missense c.533 p.C178F 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 tier1 - - 28 0 0.00 25 4 13.79 IRX6 0 genome.wustl.edu 37 16 55361662 55361662 + Missense_Mutation SNP T T A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 16 55361662 55361662 T A SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known missense c.578 p.V193E 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 tier1 - - 61 0 0.00 47 11 18.64 KIAA1024 0 genome.wustl.edu 37 15 79750680 79750680 + Nonsense_Mutation SNP A A T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 15 79750680 79750680 A T SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known nonsense c.2191 p.R731* 0.121 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 tier1 - - 25 0 0.00 29 10 25.64 LENG8 0 genome.wustl.edu 37 19 54968055 54968055 + Silent SNP G G C TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 19 54968055 54968055 G C SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known silent c.1686 p.L562 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 tier1 - - 49 0 0.00 25 11 30.56 LGR6 0 genome.wustl.edu 37 1 202278273 202278273 + Missense_Mutation SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 1 202278273 202278273 G T SNP LGR6 ENST00000367278 human ensembl 74_37 +1 known missense c.1375 p.A459S 0.985 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 tier1 - - 59 0 0.00 48 4 7.69 LIPH 0 genome.wustl.edu 37 3 185252682 185252682 + Silent SNP G G C TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 3 185252682 185252682 G C SNP LIPH ENST00000296252 human ensembl 74_37 -1 known silent c.288 p.L96 0.059 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC ENSG00000163898 tier1 - - 41 0 0.00 56 4 6.67 LRP6 0 genome.wustl.edu 37 12 12311822 12311822 + Frame_Shift_Del DEL C C - TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 12 12311822 12311822 C - DEL LRP6 ENST00000261349 human ensembl 74_37 -1 known frame_shift_del c.2732 p.G911fs 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_EG-like_dom pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 tier1 31 0 0.00 34 11 24.44 LRRC32 0 genome.wustl.edu 37 11 76370908 76370908 + Missense_Mutation SNP C C T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 11 76370908 76370908 C T SNP LRRC32 ENST00000260061 human ensembl 74_37 -1 known missense c.1729 p.G577S 0.974 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 tier1 - - 34 0 0.00 42 18 30.00 MATN2 0 genome.wustl.edu 37 8 99039880 99039880 + Missense_Mutation SNP T T C TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 8 99039880 99039880 T C SNP MATN2 ENST00000254898 human ensembl 74_37 +1 known missense c.2179 p.Y727H 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC ENSG00000132561 tier1 - - 20 0 0.00 35 14 28.57 MIR519A1 0 genome.wustl.edu 37 19 54255702 54255702 + RNA SNP G G A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 19 54255702 54255702 G A SNP MIR519A1 ENST00000385257 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors MIR519A1 HGNC ENSG00000207992 tier1 - - 80 0 0.00 54 14 20.59 MKI67 0 genome.wustl.edu 37 10 129908757 129908757 + Silent SNP C C T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 10 129908757 129908757 C T SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known silent c.2301 p.P767 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 25 0 0.00 24 2 7.69 MRAS 0 genome.wustl.edu 37 3 138116171 138116171 + Missense_Mutation SNP G G A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 3 138116171 138116171 G A SNP MRAS ENST00000289104 human ensembl 74_37 +1 known missense c.199 p.D67N 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors MRAS HGNC ENSG00000158186 tier1 - - 34 0 0.00 41 14 25.45 MT-CO1 0 genome.wustl.edu 37 MT 6734 6734 + Silent SNP G G A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 MT 6734 6734 G A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known silent c.831 p.M277 NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 rs41413745 - 15 0 0.00 2 6 75.00 MTR 0 genome.wustl.edu 37 1 237057959 237057959 + RNA DEL T T - TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 1 237057959 237057959 T - DEL MTR ENST00000470570 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MTR HGNC ENSG00000116984 tier1 9 0 0.00 5 2 28.57 NAIF1 0 genome.wustl.edu 37 9 130826154 130826154 + Silent SNP C C T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 9 130826154 130826154 C T SNP NAIF1 ENST00000373078 human ensembl 74_37 -1 known silent c.537 p.T179 0.005 NULL NULL - no_errors NAIF1 HGNC ENSG00000171169 tier1 - - 25 0 0.00 14 13 48.15 NLRP1 0 genome.wustl.edu 37 17 5462637 5462637 + Missense_Mutation SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 17 5462637 5462637 G T SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known missense c.1379 p.T460N 0.013 pfscan_NACHT_NTPase pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 tier1 - - 37 0 0.00 29 9 23.68 NOTCH1 0 genome.wustl.edu 37 9 139402553 139402553 + Missense_Mutation SNP A A T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 9 139402553 139402553 A T SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.3364 p.C1122S 1.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 - - 52 0 0.00 16 35 68.63 NTM 0 genome.wustl.edu 37 11 132206566 132206566 + RNA DEL T T - TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 11 132206566 132206566 T - DEL NTM ENST00000474900 human ensembl 74_37 +1 known rna NULL NULL 0.131 - - - no_errors NTM HGNC ENSG00000182667 tier1 11 0 0.00 12 7 36.84 OR10G4 0 genome.wustl.edu 37 11 123886307 123886307 + Missense_Mutation SNP C C T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 11 123886307 123886307 C T SNP OR10G4 ENST00000320891 human ensembl 74_37 +1 known missense c.26 p.A9V 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G4 HGNC ENSG00000254737 31 0 0.00 24 4 14.29 OR4Q3 0 genome.wustl.edu 37 14 20215877 20215877 + Silent SNP A A G TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 14 20215877 20215877 A G SNP OR4Q3 ENST00000331723 human ensembl 74_37 +1 known silent c.291 p.G97 0.612 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 OR4Q3 HGNC ENSG00000182652 tier1 - - 149 0 0.00 130 13 9.09 PCDHGA8 0 genome.wustl.edu 37 5 140773296 140773296 + Missense_Mutation SNP A A G TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 5 140773296 140773296 A G SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.916 p.S306G 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 24 0 0.00 6 2 25.00 PML 0 genome.wustl.edu 37 15 74336717 74336717 + Missense_Mutation SNP A A G TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 15 74336717 74336717 A G SNP PML ENST00000268058 human ensembl 74_37 +1 known missense c.2017 p.I673V 0.783 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 tier1 - - 20 0 0.00 25 8 24.24 POTEH 0 genome.wustl.edu 37 22 16287537 16287537 + Missense_Mutation SNP C C T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 22 16287537 16287537 C T SNP POTEH ENST00000343518 human ensembl 74_37 -1 known missense c.349 p.V117M 0.006 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC ENSG00000198062 tier1 - - 191 0 0.00 185 31 14.29 PRPF3 0 genome.wustl.edu 37 1 150307544 150307544 + Missense_Mutation SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 1 150307544 150307544 G T SNP PRPF3 ENST00000324862 human ensembl 74_37 +1 known missense c.867 p.K289N 1.000 NULL pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors PRPF3 HGNC ENSG00000117360 44 0 0.00 39 4 9.30 PSMB7 0 genome.wustl.edu 37 9 127174691 127174691 + Missense_Mutation SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 9 127174691 127174691 G T SNP PSMB7 ENST00000259457 human ensembl 74_37 -1 known missense c.335 p.S112Y 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_bsu_C,prints_Pept_T1A_subB - no_errors PSMB7 HGNC ENSG00000136930 tier1 - - 45 0 0.00 50 4 7.41 RFX7 0 genome.wustl.edu 37 15 56435084 56435085 + Frame_Shift_Ins INS - - TG TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 15 56435084 56435085 - TG INS RFX7 ENST00000423270 human ensembl 74_37 -1 known frame_shift_ins c.293_292 p.M98fs 1.000:1.000 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 tier1 44 0 0.00 30 14 31.82 S100A12 0 genome.wustl.edu 37 1 153346937 153346937 + Silent SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 1 153346937 153346937 G T SNP S100A12 ENST00000368737 human ensembl 74_37 -1 known silent c.132 p.T44 0.000 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors S100A12 HGNC ENSG00000163221 tier1 - - 43 0 0.00 37 4 9.76 SATB1 0 genome.wustl.edu 37 3 18436270 18436270 + Missense_Mutation SNP C C T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 3 18436270 18436270 C T SNP SATB1 ENST00000417717 human ensembl 74_37 -1 known missense c.890 p.R297Q 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 tier1 - - 81 0 0.00 37 11 22.92 SCN1A 0 genome.wustl.edu 37 2 166872187 166872187 + Silent SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 2 166872187 166872187 G T SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known silent c.3480 p.G1160 0.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 34 0 0.00 63 4 5.97 SEC16B 0 genome.wustl.edu 37 1 177902668 177902668 + Missense_Mutation SNP C C T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 1 177902668 177902668 C T SNP SEC16B ENST00000308284 human ensembl 74_37 -1 known missense c.2675 p.R892Q 0.000 NULL NULL - no_errors SEC16B HGNC ENSG00000120341 41 0 0.00 37 2 5.13 SEC24B 0 genome.wustl.edu 37 4 110427592 110427592 + Missense_Mutation SNP A A G TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 4 110427592 110427592 A G SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known missense c.1597 p.I533V 0.991 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 tier1 - - 23 0 0.00 21 7 25.00 SLC4A3 0 genome.wustl.edu 37 2 220500481 220500481 + Missense_Mutation SNP C C T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 2 220500481 220500481 C T SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known missense c.2140 p.R714W 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 34 0 0.00 28 2 6.67 SLFN12L 0 genome.wustl.edu 37 17 33806863 33806863 + Silent SNP G G A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 17 33806863 33806863 G A SNP SLFN12L ENST00000449046 human ensembl 74_37 -1 known silent c.459 p.H153 0.000 NULL pfam_ATPase_AAA-4 - no_errors SLFN12L HGNC ENSG00000205045 59 0 0.00 51 3 5.56 SNTG2 0 genome.wustl.edu 37 2 1204912 1204912 + Missense_Mutation SNP T T A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 2 1204912 1204912 T A SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known missense c.715 p.L239I 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 tier1 - - 38 0 0.00 26 12 31.58 SPATA32 0 genome.wustl.edu 37 17 43334552 43334552 + Silent SNP G G A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 17 43334552 43334552 G A SNP SPATA32 ENST00000331780 human ensembl 74_37 -1 known silent c.36 p.C12 0.028 NULL NULL - no_errors SPATA32 HGNC ENSG00000184361 31 0 0.00 32 2 5.88 SPTA1 0 genome.wustl.edu 37 1 158636283 158636283 + Silent SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 1 158636283 158636283 G T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.2043 p.T681 0.144 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 14 0 0.00 14 2 12.50 STAU1 0 genome.wustl.edu 37 20 47768220 47768220 + Missense_Mutation SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 20 47768220 47768220 G T SNP STAU1 ENST00000371856 human ensembl 74_37 -1 known missense c.409 p.Q137K 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU1 HGNC ENSG00000124214 tier1 - - 44 0 0.00 48 4 7.69 STRAP 0 genome.wustl.edu 37 12 16043540 16043540 + Missense_Mutation SNP T T G TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 12 16043540 16043540 T G SNP STRAP ENST00000025399 human ensembl 74_37 +1 known missense c.379 p.Y127D 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors STRAP HGNC ENSG00000023734 tier1 - - 52 0 0.00 39 13 25.00 STXBP5 0 genome.wustl.edu 37 6 147632620 147632620 + Missense_Mutation SNP C C A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 6 147632620 147632620 C A SNP STXBP5 ENST00000321680 human ensembl 74_37 +1 known missense c.1102 p.L368I 1.000 pfam_LLGL2,superfamily_WD40_repeat_dom,prints_Lethal2_giant pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 tier1 - - 37 0 0.00 32 5 13.51 TAF4B 0 genome.wustl.edu 37 18 23873435 23873435 + Missense_Mutation SNP C C T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 18 23873435 23873435 C T SNP TAF4B ENST00000269142 human ensembl 74_37 +1 known missense c.1772 p.S591L 1.000 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4B HGNC ENSG00000141384 27 0 0.00 42 3 6.67 TEX38 0 genome.wustl.edu 37 1 47138746 47138746 + Missense_Mutation SNP C C G TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 1 47138746 47138746 C G SNP TEX38 ENST00000569393 human ensembl 74_37 +1 known missense c.401 p.A134G 0.956 NULL NULL - no_errors TEX38 HGNC ENSG00000186118 tier1 - - 40 0 0.00 21 6 22.22 TFCP2 0 genome.wustl.edu 37 12 51489798 51489798 + Missense_Mutation SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 12 51489798 51489798 G T SNP TFCP2 ENST00000257915 human ensembl 74_37 -1 known missense c.1445 p.A482E 1.000 NULL pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2 HGNC ENSG00000135457 22 0 0.00 32 2 5.88 TGFBR2 0 genome.wustl.edu 37 3 30691947 30691947 + Nonsense_Mutation SNP C C G TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 3 30691947 30691947 C G SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known nonsense c.524 p.S175* 0.931 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 tier1 - - 40 0 0.00 22 5 18.52 THSD7A 0 genome.wustl.edu 37 7 11486945 11486945 + Silent SNP C C T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 7 11486945 11486945 C T SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known silent c.2712 p.Q904 1.000 superfamily_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 tier1 - - 39 0 0.00 35 14 28.57 TP53 0 genome.wustl.edu 37 17 7577527 7577527 + Frame_Shift_Del DEL G G - TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 17 7577527 7577527 G - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.754 p.L252fs 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 56 0 0.00 32 21 39.62 TP53 0 genome.wustl.edu 37 17 7577528 7577528 + Silent SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 17 7577528 7577528 G T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known silent c.753 p.I251 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 - - 56 0 0.00 30 22 42.31 TTC40 0 genome.wustl.edu 37 10 134755135 134755135 + Missense_Mutation SNP C C A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 10 134755135 134755135 C A SNP TTC40 ENST00000368582 human ensembl 74_37 -1 known missense c.266 p.C89F 1.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 - - 37 0 0.00 25 8 24.24 TTN 0 genome.wustl.edu 37 2 179571596 179571596 + Silent SNP G G A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 2 179571596 179571596 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.25395 p.V8465 0.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 32 0 0.00 28 6 17.65 UBE2T 0 genome.wustl.edu 37 1 202302447 202302447 + Missense_Mutation SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 1 202302447 202302447 G T SNP UBE2T ENST00000367274 human ensembl 74_37 -1 known missense c.302 p.S101Y 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2T HGNC ENSG00000077152 tier1 - - 57 0 0.00 34 9 20.93 UNC13D 0 genome.wustl.edu 37 17 73827330 73827330 + Silent SNP G G A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 17 73827330 73827330 G A SNP UNC13D ENST00000412096 human ensembl 74_37 -1 known silent c.2547 p.A849 0.985 pfam_Munc13_subgr_dom-2 pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors UNC13D HGNC ENSG00000092929 tier1 - - 34 0 0.00 27 19 41.30 USP27X 0 genome.wustl.edu 37 X 49645918 49645918 + Silent SNP G G A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 X 49645918 49645918 G A SNP USP27X ENST00000508866 human ensembl 74_37 +1 known silent c.1008 p.T336 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP27X HGNC ENSG00000242013 tier1 - - 30 0 0.00 9 9 50.00 USP48 0 genome.wustl.edu 37 1 22033385 22033386 + Frame_Shift_Ins INS - - A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 1 22033385 22033386 - A INS USP48 ENST00000529637 human ensembl 74_37 -1 novel frame_shift_ins c.1976_1975 p.S659fs 0.000:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 tier1 14 0 0.00 31 5 13.89 VPS53 0 genome.wustl.edu 37 17 560766 560766 + RNA SNP G G C TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 17 560766 560766 G C SNP VPS53 ENST00000575207 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors VPS53 HGNC ENSG00000141252 tier1 - - 30 0 0.00 6 11 64.71 WDR24 0 genome.wustl.edu 37 16 740386 740386 + Missense_Mutation SNP C C T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 16 740386 740386 C T SNP WDR24 ENST00000248142 human ensembl 74_37 -1 known missense c.59 p.R20Q 0.026 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR24 HGNC ENSG00000127580 tier1 - - 68 0 0.00 42 14 25.00 ZBED1 0 genome.wustl.edu 37 X 2408163 2408165 + In_Frame_Del DEL TGT TGT - TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 X 2408163 2408165 TGT - DEL ZBED1 ENST00000381218 human ensembl 74_37 -1 known in_frame_del c.598_596 p.DM199in_frame_delV 0.584:0.703:0.959 superfamily_RNaseH-like_dom pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 tier1 63 0 0.00 47 16 25.40 ZBED1 0 genome.wustl.edu 37 X 2408167 2408169 + In_Frame_Del DEL GGT GGT - TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 GGT GGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 X 2408167 2408169 GGT - DEL ZBED1 ENST00000381218 human ensembl 74_37 -1 known in_frame_del c.594_592 p.T198in_frame_del 0.041:0.747:0.750 superfamily_RNaseH-like_dom pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 tier1 63 0 0.00 52 16 23.53 ZFHX4 0 genome.wustl.edu 37 8 77766126 77766126 + Missense_Mutation SNP G G T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 8 77766126 77766126 G T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.6969 p.R2323S 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 24 0 0.00 29 2 6.45 ZNF704 0 genome.wustl.edu 37 8 81550824 81550825 + RNA INS - - A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 8 81550824 81550825 - A INS ZNF704 ENST00000517379 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors ZNF704 HGNC ENSG00000164684 tier1 15 0 0.00 23 2 8.00 ZNF704 0 genome.wustl.edu 37 8 81550825 81550825 + RNA DEL A A - TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 8 81550825 81550825 A - DEL ZNF704 ENST00000517379 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ZNF704 HGNC ENSG00000164684 tier1 15 0 0.00 19 6 24.00 ZNF91 0 genome.wustl.edu 37 19 23525017 23525017 + RNA SNP C C A TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25b2c389-9567-4d9d-bd13-37ec79e35b20 6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4 19 23525017 23525017 C A SNP ZNF91 ENST00000599281 human ensembl 74_37 -1 known rna NULL NULL 0.064 - - - no_errors ZNF91 HGNC ENSG00000167232 tier1 - - 36 0 0.00 16 6 27.27