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 AGAP1 0 genome.wustl.edu 37 2 236649666 236649666 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 2 236649666 236649666 G T SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.370 p.D124Y 1.000 pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 tier1 - - 44 0 0.00 35 27 43.55 AGO2 0 genome.wustl.edu 37 8 141542743 141542743 + RNA SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 8 141542743 141542743 G A SNP AGO2 ENST00000520628 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors AGO2 HGNC ENSG00000123908 tier1 - - 25 0 0.00 19 9 31.03 ALDH1L1 0 genome.wustl.edu 37 3 125855621 125855621 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 3 125855621 125855621 G T SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known missense c.1330 p.P444T 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 tier1 - - 38 0 0.00 25 10 28.57 AMY2B 0 genome.wustl.edu 37 1 104116487 104116487 + Missense_Mutation SNP C C A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 1 104116487 104116487 C A SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.671 p.A224E 0.991 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 tier1 - - 126 0 0.00 51 72 58.54 AMY2B 0 genome.wustl.edu 37 1 104117883 104117883 + Missense_Mutation SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 1 104117883 104117883 G A SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.917 p.R306K 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 tier1 - - 107 0 0.00 69 23 25.00 ANKHD1 0 genome.wustl.edu 37 5 139917797 139917797 + Missense_Mutation SNP C C G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 5 139917797 139917797 C G SNP ANKHD1 ENST00000297183 human ensembl 74_37 +1 known missense c.7355 p.S2452C 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 tier1 - - 54 0 0.00 28 9 24.32 AP4E1 0 genome.wustl.edu 37 15 51250986 51250986 + Silent SNP T T C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 15 51250986 51250986 T C SNP AP4E1 ENST00000261842 human ensembl 74_37 +1 known silent c.1846 p.L616 0.421 superfamily_ARM-type_fold,pirsf_AP4_complex_esu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu - no_errors AP4E1 HGNC ENSG00000081014 tier1 - - 30 0 0.00 31 4 11.43 APOB 0 genome.wustl.edu 37 2 21227283 21227283 + Missense_Mutation SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 2 21227283 21227283 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.11945 p.A3982V 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 114 0 0.00 69 52 42.98 APOB 0 genome.wustl.edu 37 2 21234621 21234621 + Missense_Mutation SNP C C T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 2 21234621 21234621 C T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.5119 p.E1707K 1.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 28 0 0.00 25 16 39.02 ARHGAP21 0 genome.wustl.edu 37 10 24874807 24874807 + Missense_Mutation SNP T T C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 10 24874807 24874807 T C SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known missense c.4411 p.I1471V 0.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 tier1 - - 147 0 0.00 176 63 26.36 ARMC10 0 genome.wustl.edu 37 7 102738985 102738985 + Missense_Mutation SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 7 102738985 102738985 A G SNP ARMC10 ENST00000323716 human ensembl 74_37 +1 known missense c.1017 p.I339M 0.000 superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC10 HGNC ENSG00000170632 39 0 0.00 68 4 5.56 ARRDC3 0 genome.wustl.edu 37 5 90670002 90670002 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 5 90670002 90670002 G T SNP ARRDC3 ENST00000265138 human ensembl 74_37 -1 known missense c.962 p.T321N 1.000 superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC3 HGNC ENSG00000113369 tier1 - - 26 0 0.00 21 3 12.00 ATP13A5 0 genome.wustl.edu 37 3 192997166 192997166 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 3 192997166 192997166 G T SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known missense c.3304 p.R1102S 0.231 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 13 0 0.00 35 2 5.41 BEND2 0 genome.wustl.edu 37 X 18189223 18189223 + Nonsense_Mutation SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 X 18189223 18189223 G A SNP BEND2 ENST00000380033 human ensembl 74_37 -1 known nonsense c.2083 p.Q695* 0.004 pfam_BEN_domain pfam_BEN_domain - no_errors BEND2 HGNC ENSG00000177324 tier1 - - 17 0 0.00 2 9 81.82 C7orf31 0 genome.wustl.edu 37 7 25191224 25191224 + Silent SNP T T C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 7 25191224 25191224 T C SNP C7orf31 ENST00000283905 human ensembl 74_37 -1 known silent c.675 p.V225 0.220 NULL NULL - no_errors C7orf31 HGNC ENSG00000153790 tier1 - - 36 0 0.00 17 20 54.05 C9orf78 0 genome.wustl.edu 37 9 132596001 132596001 + RNA DEL A A - TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 9 132596001 132596001 A - DEL C9orf78 ENST00000461762 human ensembl 74_37 -1 known rna NULL NULL 0.115 - - - no_errors C9orf78 HGNC ENSG00000136819 tier1 20 0 0.00 22 3 12.00 CAND1 0 genome.wustl.edu 37 12 67700046 67700046 + Silent SNP A A T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 12 67700046 67700046 A T SNP CAND1 ENST00000545606 human ensembl 74_37 +1 known silent c.2598 p.S866 0.147 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 tier1 - - 22 0 0.00 14 13 48.15 CBL 0 genome.wustl.edu 37 11 119149355 119149355 + Missense_Mutation SNP T T A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 11 119149355 119149355 T A SNP CBL ENST00000264033 human ensembl 74_37 +1 known missense c.1363 p.Y455N 1.000 NULL 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 tier1 - - 30 0 0.00 14 5 26.32 CCDC39 0 genome.wustl.edu 37 3 180337677 180337677 + Missense_Mutation SNP C C T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 3 180337677 180337677 C T SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known missense c.2080 p.A694T 0.999 superfamily_Prefoldin superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 tier1 - - 38 0 0.00 51 29 36.25 CCT8L2 0 genome.wustl.edu 37 22 17072831 17072831 + Missense_Mutation SNP C C T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 22 17072831 17072831 C T SNP CCT8L2 ENST00000359963 human ensembl 74_37 -1 known missense c.610 p.G204R 0.008 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 tier1 - - 63 0 0.00 13 9 40.91 CDC27 0 genome.wustl.edu 37 17 45214646 45214646 + Silent SNP T T C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 17 45214646 45214646 T C SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known silent c.1803 p.Q601 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 32 0 0.00 53 4 7.02 CDK18 0 genome.wustl.edu 37 1 205498558 205498558 + Splice_Site SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 1 205498558 205498558 G T SNP CDK18 ENST00000506784 human ensembl 74_37 +1 known splice_site c.1268+1 e11+1 1.000 - - - no_errors CDK18 HGNC ENSG00000117266 tier1 - - 29 0 0.00 6 10 62.50 CDK18 0 genome.wustl.edu 37 1 205498560 205498560 + RNA SNP A A T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 1 205498560 205498560 A T SNP CDK18 ENST00000468954 human ensembl 74_37 +1 known rna NULL NULL 0.989 - - - no_errors CDK18 HGNC ENSG00000117266 tier1 - - 27 0 0.00 7 10 58.82 CDKL3 0 genome.wustl.edu 37 5 133643980 133643980 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 5 133643980 133643980 G T SNP CDKL3 ENST00000265334 human ensembl 74_37 -1 known missense c.1213 p.P405T 0.001 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 CDKL3 HGNC ENSG00000006837 tier1 - - 98 0 0.00 32 37 53.62 CDKN2A 0 genome.wustl.edu 37 9 21971111 21971111 + Missense_Mutation SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 9 21971111 21971111 G A SNP CDKN2A ENST00000361570 human ensembl 74_37 -1 known missense c.413 p.A138V 1.000 NULL pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC ENSG00000147889 tier1 rs121913385 - 12 0 0.00 1 11 91.67 CEL 0 genome.wustl.edu 37 9 135945858 135945858 + Missense_Mutation SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 9 135945858 135945858 A G SNP CEL ENST00000372080 human ensembl 74_37 +1 known missense c.1306 p.T436A 0.996 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 tier1 - - 25 0 0.00 29 28 49.12 CENPO 0 genome.wustl.edu 37 2 25037312 25037312 + Missense_Mutation SNP A A C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 2 25037312 25037312 A C SNP CENPO ENST00000260662 human ensembl 74_37 +1 known missense c.284 p.E95A 0.076 NULL pfam_CENP-O - no_errors CENPO HGNC ENSG00000138092 tier1 - - 62 0 0.00 26 28 51.85 CEP290 0 genome.wustl.edu 37 12 88477689 88477689 + Missense_Mutation SNP T T A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 12 88477689 88477689 T A SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.4753 p.I1585F 0.119 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 tier1 - - 32 0 0.00 13 6 31.58 CLEC18B 0 genome.wustl.edu 37 16 74452168 74452168 + Missense_Mutation SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 16 74452168 74452168 G A SNP CLEC18B ENST00000339953 human ensembl 74_37 -1 known missense c.245 p.A82V 0.875 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1 - no_errors CLEC18B HGNC ENSG00000140839 tier1 - - 40 0 0.00 39 6 13.33 CMYA5 0 genome.wustl.edu 37 5 79025179 79025179 + Silent SNP C C A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 5 79025179 79025179 C A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.591 p.T197 0.017 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 16 0 0.00 13 6 31.58 COBL 0 genome.wustl.edu 37 7 51096150 51096150 + Silent SNP G G C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 7 51096150 51096150 G C SNP COBL ENST00000395542 human ensembl 74_37 -1 known silent c.2889 p.V963 0.004 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 tier1 - - 51 0 0.00 24 27 52.94 COL17A1 0 genome.wustl.edu 37 10 105792467 105792468 + Frame_Shift_Ins INS - - CA TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 10 105792467 105792468 - CA INS COL17A1 ENST00000353479 human ensembl 74_37 -1 known frame_shift_ins c.4403_4402 p.G1468fs 1.000:0.998 pfam_Collagen pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 tier1 51 0 0.00 10 26 72.22 COL7A1 0 genome.wustl.edu 37 3 48615783 48615783 + Missense_Mutation SNP C C A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 3 48615783 48615783 C A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.5503 p.D1835Y 1.000 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 tier1 - - 41 0 0.00 6 18 75.00 CSGALNACT2 0 genome.wustl.edu 37 10 43659419 43659419 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 10 43659419 43659419 G T SNP CSGALNACT2 ENST00000374466 human ensembl 74_37 +1 known missense c.1086 p.L362F 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT2 HGNC ENSG00000169826 68 0 0.00 53 3 5.36 CSMD3 0 genome.wustl.edu 37 8 113678609 113678609 + Missense_Mutation SNP C C A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 8 113678609 113678609 C A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.2713 p.V905L 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 CSMD3 HGNC ENSG00000164796 tier1 - - 35 0 0.00 40 21 34.43 DARS2 0 genome.wustl.edu 37 1 173807358 173807358 + Missense_Mutation SNP T T G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 1 173807358 173807358 T G SNP DARS2 ENST00000361951 human ensembl 74_37 +1 known missense c.801 p.D267E 1.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-ligase_IIb_bac/mt pfam_aa-tRNA-synt_II,pfam_GAD_dom,pfam_NA-bd_OB_tRNA,superfamily_GAD_dom,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-ligase_IIb_bac/mt - no_errors DARS2 HGNC ENSG00000117593 tier1 - - 56 0 0.00 40 11 21.57 DAZAP2 0 genome.wustl.edu 37 12 51634217 51634218 + Frame_Shift_Ins INS - - T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 12 51634217 51634218 - T INS DAZAP2 ENST00000549555 human ensembl 74_37 +1 known frame_shift_ins c.104_105 p.T36fs 1.000:1.000 pfam_DAZ_assoc-2 pfam_DAZ_assoc-2 - no_errors DAZAP2 HGNC ENSG00000183283 tier1 61 0 0.00 31 24 43.64 DGCR2 0 genome.wustl.edu 37 22 19052582 19052582 + Splice_Site SNP T T C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 22 19052582 19052582 T C SNP DGCR2 ENST00000263196 human ensembl 74_37 -1 known splice_site c.329-2 e4-2 1.000 - - - no_errors DGCR2 HGNC ENSG00000070413 tier1 - - 15 0 0.00 8 9 52.94 DIO2 0 genome.wustl.edu 37 14 80669418 80669418 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 14 80669418 80669418 G T SNP DIO2 ENST00000557125 human ensembl 74_37 -1 putative missense c.60 p.N20K 1.000 NULL NULL - no_errors DIO2 HGNC ENSG00000211448 tier1 - - 35 0 0.00 11 13 54.17 DMD 0 genome.wustl.edu 37 X 32472792 32472792 + Missense_Mutation SNP A A T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 X 32472792 32472792 A T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.3590 p.V1197D 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 28 0 0.00 12 4 25.00 DNAJC1 0 genome.wustl.edu 37 10 22208845 22208845 + Missense_Mutation SNP C C A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 10 22208845 22208845 C A SNP DNAJC1 ENST00000376980 human ensembl 74_37 -1 known missense c.551 p.S184I 1.000 NULL pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC1 HGNC ENSG00000136770 tier1 - - 28 0 0.00 38 4 9.52 DNAJC13 0 genome.wustl.edu 37 3 132169648 132169648 + Missense_Mutation SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 3 132169648 132169648 A G SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.494 p.Y165C 1.000 NULL pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 tier1 - - 19 0 0.00 11 44 80.00 DTL 0 genome.wustl.edu 37 1 212241588 212241588 + Missense_Mutation SNP C C T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 1 212241588 212241588 C T SNP DTL ENST00000366991 human ensembl 74_37 +1 known missense c.736 p.R246C 1.000 superfamily_WD40_repeat_dom,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 DTL HGNC ENSG00000143476 tier1 - - 71 0 0.00 42 16 27.59 DYSF 0 genome.wustl.edu 37 2 71896314 71896314 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 2 71896314 71896314 G T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.5595 p.K1865N 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 tier1 - - 46 0 0.00 27 9 25.00 EFCAB4A 0 genome.wustl.edu 37 11 829507 829508 + Frame_Shift_Ins INS - - G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 11 829507 829508 - G INS EFCAB4A ENST00000450448 human ensembl 74_37 +1 known frame_shift_ins c.425_426 p.E143fs 0.928:0.997 NULL pfscan_EF_hand_dom - no_errors EFCAB4A HGNC ENSG00000177685 tier1 58 0 0.00 43 10 18.87 EFTUD1P1 0 genome.wustl.edu 37 15 84789874 84789874 + RNA SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 15 84789874 84789874 G T SNP EFTUD1P1 ENST00000560381 human ensembl 74_37 +1 known rna NULL NULL 0.985 - - - no_errors EFTUD1P1 HGNC ENSG00000259404 tier1 - - 47 0 0.00 40 12 23.08 EGR2 0 genome.wustl.edu 37 10 64575631 64575631 + Silent SNP T T G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 10 64575631 64575631 T G SNP EGR2 ENST00000242480 human ensembl 74_37 -1 known silent c.159 p.G53 1.000 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR2 HGNC ENSG00000122877 tier1 - - 16 0 0.00 1 14 93.33 ELFN2 0 genome.wustl.edu 37 22 37771876 37771877 + RNA INS - - CCT TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 22 37771876 37771877 - CCT INS ELFN2 ENST00000414347 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.043 - - - no_errors ELFN2 HGNC ENSG00000166897 tier1 22 0 0.00 13 6 31.58 ELMOD3 0 genome.wustl.edu 37 2 85618819 85618820 + RNA INS - - AGGC TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 2 85618819 85618820 - AGGC INS ELMOD3 ENST00000490508 human ensembl 74_37 +1 known rna NULL NULL 0.004:0.001 - - - no_errors ELMOD3 HGNC ENSG00000115459 tier1 25 0 0.00 20 13 39.39 ENSG00000187811 0 genome.wustl.edu 37 11 71316597 71316597 + Missense_Mutation SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 11 71316597 71316597 G A SNP ENSG00000187811 ENST00000343767 human ensembl 74_37 -1 known missense c.40 p.R14C 0.100 NULL NULL - no_errors AP000867.1 Clone_based_ensembl_gene ENSG00000187811 tier1 - - 113 0 0.00 457 34 6.88 ENSG00000230239 0 genome.wustl.edu 37 1 17185596 17185597 + RNA INS - - A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 1 17185596 17185597 - A INS ENSG00000230239 ENST00000414128 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors RP11-108M9.2 Clone_based_vega_gene ENSG00000230239 tier1 207 0 0.00 167 61 26.75 ENSG00000250770 0 genome.wustl.edu 37 12 3409292 3409292 + RNA SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 12 3409292 3409292 G T SNP ENSG00000250770 ENST00000505276 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-1063M23.1 Clone_based_vega_gene ENSG00000250770 tier1 - - 89 0 0.00 95 6 5.94 ENSG00000259455 0 genome.wustl.edu 37 15 23406970 23406970 + Silent SNP C C T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 15 23406970 23406970 C T SNP ENSG00000259455 ENST00000558241 human ensembl 74_37 -1 novel silent c.1866 p.R622 0.001 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors RP11-467N20.5 Clone_based_vega_gene ENSG00000259455 tier1 - - 234 0 0.00 213 14 6.17 ENSG00000267848 0 genome.wustl.edu 37 20 62585290 62585290 + Missense_Mutation SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 20 62585290 62585290 G A SNP ENSG00000267848 ENST00000595604 human ensembl 74_37 +1 known missense c.284 p.R95H 0.000 NULL NULL - no_errors AL118506.1 Clone_based_ensembl_gene ENSG00000267848 tier1 - - 20 0 0.00 9 14 60.87 ENSG00000270097 0 genome.wustl.edu 37 16 3050153 3050153 + RNA SNP C C T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 16 3050153 3050153 C T SNP ENSG00000270097 ENST00000572086 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LA16c-380H5.3 Clone_based_vega_gene ENSG00000270097 tier1 - - 47 0 0.00 23 26 53.06 ESRP2 0 genome.wustl.edu 37 16 68266687 68266688 + Frame_Shift_Ins INS - - T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 16 68266687 68266688 - T INS ESRP2 ENST00000565858 human ensembl 74_37 -1 known frame_shift_ins c.687_686 p.Q230fs 1.000:1.000 NULL superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC ENSG00000103067 tier1 18 0 0.00 11 14 56.00 FAM126B 0 genome.wustl.edu 37 2 201846144 201846144 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 2 201846144 201846144 G T SNP FAM126B ENST00000418596 human ensembl 74_37 -1 known missense c.1442 p.A481D 0.661 NULL pfam_Hyccin - no_errors FAM126B HGNC ENSG00000155744 tier1 - - 32 0 0.00 36 4 10.00 FAM13B 0 genome.wustl.edu 37 5 137275979 137275979 + Missense_Mutation SNP T T C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 5 137275979 137275979 T C SNP FAM13B ENST00000033079 human ensembl 74_37 -1 known missense c.2683 p.I895V 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 tier1 - - 35 0 0.00 13 18 58.06 FAM200B 0 genome.wustl.edu 37 4 15691676 15691676 + RNA SNP C C T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 4 15691676 15691676 C T SNP FAM200B ENST00000504137 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM200B HGNC ENSG00000237765 tier1 - - 23 0 0.00 4 11 73.33 FAM227A 0 genome.wustl.edu 37 22 39046033 39046033 + Silent SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 22 39046033 39046033 G T SNP FAM227A ENST00000406767 human ensembl 74_37 -1 known silent c.123 p.P41 0.118 NULL superfamily_Staphylcoagulase_N - no_errors FAM227A HGNC ENSG00000184949 tier1 - - 69 0 0.00 47 4 7.84 FBXO21 0 genome.wustl.edu 37 12 117595684 117595684 + Missense_Mutation SNP T T G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 12 117595684 117595684 T G SNP FBXO21 ENST00000330622 human ensembl 74_37 -1 known missense c.1532 p.H511P 1.000 pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom,tigrfam_Hemimethylated_DNA-bd_dom pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 tier1 - - 33 0 0.00 23 10 29.41 FBXO9 0 genome.wustl.edu 37 6 52960336 52960336 + Missense_Mutation SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 6 52960336 52960336 A G SNP FBXO9 ENST00000244426 human ensembl 74_37 +1 known missense c.1109 p.Y370C 1.000 superfamily_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO9 HGNC ENSG00000112146 tier1 - - 48 0 0.00 22 30 57.69 FBXW12 0 genome.wustl.edu 37 3 48420016 48420016 + Missense_Mutation SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 3 48420016 48420016 G A SNP FBXW12 ENST00000296438 human ensembl 74_37 +1 known missense c.615 p.M205I 0.583 superfamily_Quino_amine_DH_bsu pfam_F-box_dom,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXW12 HGNC ENSG00000164049 tier1 - - 16 0 0.00 4 15 78.95 FOLR3 0 genome.wustl.edu 37 11 71847151 71847151 + Missense_Mutation SNP C C A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 11 71847151 71847151 C A SNP FOLR3 ENST00000456237 human ensembl 74_37 +1 known missense c.153 p.D51E 0.012 NULL pfam_Folate_rcpt-like - no_errors FOLR3 HGNC ENSG00000110203 tier1 - - 32 0 0.00 115 14 10.85 FRYL 0 genome.wustl.edu 37 4 48555255 48555255 + Missense_Mutation SNP T T A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 4 48555255 48555255 T A SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.4412 p.Y1471F 0.234 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 tier1 - - 34 0 0.00 7 18 72.00 FUBP1 0 genome.wustl.edu 37 1 78414589 78414589 + Missense_Mutation SNP T T C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 1 78414589 78414589 T C SNP FUBP1 ENST00000370767 human ensembl 74_37 -1 putative missense c.1937 p.N646S 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP1 HGNC ENSG00000162613 tier1 - - 15 0 0.00 24 7 22.58 GGA2 0 genome.wustl.edu 37 16 23497446 23497446 + Missense_Mutation SNP T T C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 16 23497446 23497446 T C SNP GGA2 ENST00000309859 human ensembl 74_37 -1 known missense c.688 p.K230E 0.761 pfam_GAT,pfscan_GAT pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ENTH_VHS,superfamily_Coatomer/clathrin_app_Ig-like,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA2 HGNC ENSG00000103365 tier1 - - 43 0 0.00 28 16 36.36 GINM1 0 genome.wustl.edu 37 6 149900994 149900994 + Missense_Mutation SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 6 149900994 149900994 A G SNP GINM1 ENST00000367419 human ensembl 74_37 +1 known missense c.454 p.I152V 0.994 NULL NULL - no_errors GINM1 HGNC ENSG00000055211 tier1 - - 34 0 0.00 1 19 95.00 GOLM1 0 genome.wustl.edu 37 9 88650485 88650485 + Silent SNP C C T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 9 88650485 88650485 C T SNP GOLM1 ENST00000388711 human ensembl 74_37 -1 known silent c.813 p.P271 0.000 NULL NULL - no_errors GOLM1 HGNC ENSG00000135052 tier1 - - 47 0 0.00 3 24 88.89 GP2 0 genome.wustl.edu 37 16 20327307 20327307 + Missense_Mutation SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 16 20327307 20327307 A G SNP GP2 ENST00000381362 human ensembl 74_37 -1 known missense c.1481 p.V494A 0.711 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors GP2 HGNC ENSG00000169347 tier1 - - 46 0 0.00 30 4 11.76 GPC2 0 genome.wustl.edu 37 7 99767517 99767517 + RNA SNP C C A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 7 99767517 99767517 C A SNP GPC2 ENST00000471050 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors GPC2 HGNC ENSG00000213420 tier1 - - 50 0 0.00 34 27 44.26 GRM8 0 genome.wustl.edu 37 7 126409920 126409920 + Missense_Mutation SNP A A T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 7 126409920 126409920 A T SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.1356 p.N452K 0.994 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I 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 tier1 - - 53 0 0.00 21 6 22.22 HERC3 0 genome.wustl.edu 37 4 89601387 89601387 + Silent SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 4 89601387 89601387 G T SNP HERC3 ENST00000264345 human ensembl 74_37 +1 known silent c.2340 p.T780 0.995 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC3 HGNC ENSG00000138641 34 0 0.00 33 2 5.71 HIST1H1E 0 genome.wustl.edu 37 6 26156820 26156820 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 6 26156820 26156820 G T SNP HIST1H1E ENST00000304218 human ensembl 74_37 +1 known missense c.202 p.A68S 1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 tier1 - - 47 0 0.00 44 5 10.20 HIVEP1 0 genome.wustl.edu 37 6 12125356 12125356 + Silent SNP C C T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 6 12125356 12125356 C T SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known silent c.5328 p.D1776 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 tier1 - - 16 0 0.00 24 10 29.41 HMCN1 0 genome.wustl.edu 37 1 186092111 186092111 + Silent SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 1 186092111 186092111 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.12258 p.K4086 0.111 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 30 0 0.00 12 14 53.85 HSD3B2 0 genome.wustl.edu 37 1 119964528 119964528 + Frame_Shift_Del DEL A A - TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 1 119964528 119964528 A - DEL HSD3B2 ENST00000369416 human ensembl 74_37 +1 known frame_shift_del c.404 p.I136fs 0.264 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_dTDP_dehydrorham_reduct pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR - no_errors HSD3B2 HGNC ENSG00000203859 tier1 28 0 0.00 29 13 30.95 HUWE1 0 genome.wustl.edu 37 X 53579695 53579695 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 X 53579695 53579695 G T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.8654 p.A2885E 0.973 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 20 0 0.00 8 3 25.00 IGDCC4 0 genome.wustl.edu 37 15 65686860 65686860 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 15 65686860 65686860 G T SNP IGDCC4 ENST00000352385 human ensembl 74_37 -1 novel missense c.1603 p.L535M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC4 HGNC ENSG00000103742 tier1 - - 25 0 0.00 30 4 11.76 IGSF9B 0 genome.wustl.edu 37 11 133794746 133794746 + Missense_Mutation SNP C C A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 11 133794746 133794746 C A SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known missense c.2088 p.E696D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 tier1 - - 43 0 0.00 7 17 70.83 INTU 0 genome.wustl.edu 37 4 128584699 128584699 + Missense_Mutation SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 4 128584699 128584699 A G SNP INTU ENST00000335251 human ensembl 74_37 +1 known missense c.932 p.Y311C 0.996 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 tier1 - - 18 0 0.00 2 10 83.33 ITGA2B 0 genome.wustl.edu 37 17 42466775 42466775 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 17 42466775 42466775 G T SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known missense c.67 p.P23T 0.963 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 39 0 0.00 50 3 5.66 ITGAX 0 genome.wustl.edu 37 16 31373951 31373951 + Silent SNP C C G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 16 31373951 31373951 C G SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known silent c.1236 p.A412 0.001 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 tier1 - - 33 0 0.00 13 5 26.32 ITGB1 0 genome.wustl.edu 37 10 33196044 33196044 + Missense_Mutation SNP T T C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 10 33196044 33196044 T C SNP ITGB1 ENST00000423113 human ensembl 74_37 -1 known missense c.2359 p.I787V 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_cyt_dom,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB1 HGNC ENSG00000150093 tier1 - - 34 0 0.00 9 24 72.73 KIAA1731 0 genome.wustl.edu 37 11 93440055 93440055 + Missense_Mutation SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 11 93440055 93440055 A G SNP KIAA1731 ENST00000411936 human ensembl 74_37 +1 known missense c.5741 p.D1914G 0.015 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 tier1 - - 63 0 0.00 30 4 11.76 KMT2D 0 genome.wustl.edu 37 12 49431645 49431646 + Frame_Shift_Ins INS - - C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 12 49431645 49431646 - C INS KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_ins c.9494_9493 p.D3165fs 0.987:1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 23 0 0.00 9 7 43.75 KPNA1 0 genome.wustl.edu 37 3 122144649 122144649 + RNA SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 3 122144649 122144649 A G SNP KPNA1 ENST00000470904 human ensembl 74_37 -1 known rna NULL NULL 0.233 - - - no_errors KPNA1 HGNC ENSG00000114030 tier1 - - 34 0 0.00 13 22 62.86 LINC00302 0 genome.wustl.edu 37 1 152627985 152627985 + RNA SNP G G C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 1 152627985 152627985 G C SNP LINC00302 ENST00000444515 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors LINC00302 HGNC ENSG00000176075 tier1 - - 29 0 0.00 16 6 27.27 LINC00623 0 genome.wustl.edu 37 1 149581234 149581235 + RNA INS - - T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 1 149581234 149581235 - T INS LINC00623 ENST00000598569 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.005 - - - no_errors RP11-353N4.6 Clone_based_vega_gene ENSG00000269501 tier1 31 0 0.00 39 4 9.30 LMAN2L 0 genome.wustl.edu 37 2 97373133 97373133 + Missense_Mutation SNP T T A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 2 97373133 97373133 T A SNP LMAN2L ENST00000377079 human ensembl 74_37 -1 known missense c.940 p.T314S 0.953 NULL pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN2L HGNC ENSG00000114988 tier1 - - 29 0 0.00 17 10 37.04 LMNB2 0 genome.wustl.edu 37 19 2434295 2434295 + Missense_Mutation SNP C C G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 19 2434295 2434295 C G SNP LMNB2 ENST00000325327 human ensembl 74_37 -1 known missense c.1200 p.E400D 1.000 pfam_IF pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNB2 HGNC ENSG00000176619 tier1 - - 30 0 0.00 19 15 44.12 LOC100131347 0 genome.wustl.edu 37 17 37237471 37237471 + RNA SNP T T C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 17 37237471 37237471 T C SNP LOC100131347 ENST00000583447 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2206N4.4 Clone_based_vega_gene ENSG00000263818 tier1 - - 26 0 0.00 10 5 33.33 LOC101927343 0 genome.wustl.edu 37 8 104258475 104258475 + RNA SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 8 104258475 104258475 G T SNP LOC101927343 ENST00000519801 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-318M2.2 Clone_based_vega_gene ENSG00000247081 tier1 - - 36 0 0.00 39 4 9.30 LOC440894 0 genome.wustl.edu 37 2 110746139 110746139 + RNA SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 2 110746139 110746139 A G SNP LOC440894 ENST00000336905 human ensembl 74_37 +1 known rna NULL NULL 0.110 - - - no_errors AC013268.5 Clone_based_vega_gene ENSG00000204588 tier1 - - 29 0 0.00 13 16 55.17 LRRC37B 0 genome.wustl.edu 37 17 30374917 30374917 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 17 30374917 30374917 G T SNP LRRC37B ENST00000341671 human ensembl 74_37 +1 known missense c.2380 p.G794W 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37B HGNC ENSG00000185158 tier1 - - 100 0 0.00 59 39 39.00 MAGEC2 0 genome.wustl.edu 37 X 141291732 141291732 + Silent SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 X 141291732 141291732 G A SNP MAGEC2 ENST00000247452 human ensembl 74_37 -1 known silent c.42 p.N14 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEC2 HGNC ENSG00000046774 tier1 - - 19 0 0.00 3 12 80.00 MALAT1 0 genome.wustl.edu 37 11 65271780 65271780 + RNA DEL T T - TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 11 65271780 65271780 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 17 0 0.00 15 4 21.05 MAP2K5 0 genome.wustl.edu 37 15 67923233 67923233 + Missense_Mutation SNP C C G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 15 67923233 67923233 C G SNP MAP2K5 ENST00000178640 human ensembl 74_37 +1 known missense c.553 p.H185D 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K5 HGNC ENSG00000137764 tier1 - - 28 0 0.00 19 20 51.28 MCC 0 genome.wustl.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 5 112824048 112824049 - GCC INS MCC ENST00000408903 human ensembl 74_37 -1 putative in_frame_ins c.64_63 p.21in_frame_insG 0.854:0.894 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MCC HGNC ENSG00000171444 tier1 12 0 0.00 2 3 60.00 MED13L 0 genome.wustl.edu 37 12 116408453 116408453 + Missense_Mutation SNP T T C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 12 116408453 116408453 T C SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.6013 p.I2005V 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 tier1 - - 49 0 0.00 36 50 58.14 MT-CO1 0 genome.wustl.edu 37 MT 7428 7428 + Missense_Mutation SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 MT 7428 7428 G A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.1525 p.V509M NULL 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 - - 32 0 0.00 26 38 59.38 MTHFD2L 0 genome.wustl.edu 37 4 75025854 75025855 + RNA INS - - TA TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 4 75025854 75025855 - TA INS MTHFD2L ENST00000461101 human ensembl 74_37 +1 putative rna NULL NULL 0.147:0.040 - - - no_errors MTHFD2L HGNC ENSG00000163738 tier1 54 0 0.00 74 11 12.94 MTIF2 0 genome.wustl.edu 37 2 55490950 55490950 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 2 55490950 55490950 G T SNP MTIF2 ENST00000263629 human ensembl 74_37 -1 known missense c.45 p.H15Q 0.008 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 tier1 - - 33 0 0.00 43 4 8.51 MUC4 0 genome.wustl.edu 37 3 195509501 195509501 + Missense_Mutation SNP A A T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 3 195509501 195509501 A T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.8950 p.S2984T 0.906 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 197 0 0.00 240 25 9.43 MXD1 0 genome.wustl.edu 37 2 70148870 70148870 + Nonsense_Mutation SNP C C G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 2 70148870 70148870 C G SNP MXD1 ENST00000264444 human ensembl 74_37 +1 known nonsense c.176 p.S59* 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MXD1 HGNC ENSG00000059728 tier1 - - 77 0 0.00 85 6 6.52 MYO18A 0 genome.wustl.edu 37 17 27448072 27448072 + Missense_Mutation SNP T T C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 17 27448072 27448072 T C SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known missense c.1529 p.H510R 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 tier1 - - 74 0 0.00 33 21 38.89 NASP 0 genome.wustl.edu 37 1 46073323 46073323 + Missense_Mutation SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 1 46073323 46073323 G A SNP NASP ENST00000402363 human ensembl 74_37 +1 known missense c.746 p.G249E 0.008 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC ENSG00000132780 25 0 0.00 18 2 10.00 NCKAP5L 0 genome.wustl.edu 37 12 50186300 50186300 + Missense_Mutation SNP C C G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 12 50186300 50186300 C G SNP NCKAP5L ENST00000335999 human ensembl 74_37 -1 known missense c.3721 p.A1241P 1.000 NULL NULL - no_errors NCKAP5L HGNC ENSG00000167566 30 0 0.00 31 4 11.43 NEFM 0 genome.wustl.edu 37 8 24775457 24775457 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 8 24775457 24775457 G T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.2089 p.G697W 0.000 NULL pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 21 0 0.00 34 3 8.11 NF1 0 genome.wustl.edu 37 17 29554303 29554303 + Silent SNP C C T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 17 29554303 29554303 C T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known silent c.2319 p.N773 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 tier1 - - 29 0 0.00 9 12 57.14 NFE2L2 0 genome.wustl.edu 37 2 178098945 178098945 + Missense_Mutation SNP G G C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 2 178098945 178098945 G C SNP NFE2L2 ENST00000397062 human ensembl 74_37 -1 known missense c.100 p.R34G 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 tier1 - - 48 0 0.00 18 20 52.63 NNT 0 genome.wustl.edu 37 5 43653133 43653133 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 5 43653133 43653133 G T SNP NNT ENST00000264663 human ensembl 74_37 +1 known missense c.1877 p.G626V 1.000 pfam_NADH_DH_b pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 tier1 - - 55 0 0.00 64 4 5.88 NPAP1 0 genome.wustl.edu 37 15 24924081 24924081 + Missense_Mutation SNP A A C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 15 24924081 24924081 A C SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.3067 p.S1023R 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 - - 35 0 0.00 18 5 21.74 NPRL3 0 genome.wustl.edu 37 16 136688 136688 + RNA SNP C C T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 16 136688 136688 C T SNP NPRL3 ENST00000405960 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NPRL3 HGNC ENSG00000103148 tier1 - - 23 0 0.00 10 17 62.96 NSMF 0 genome.wustl.edu 37 9 140346852 140346852 + Missense_Mutation SNP C C G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 9 140346852 140346852 C G SNP NSMF ENST00000371475 human ensembl 74_37 -1 known missense c.1201 p.G401R 1.000 NULL superfamily_P-loop_NTPase - no_errors NSMF HGNC ENSG00000165802 tier1 - - 33 0 0.00 24 13 35.14 NTNG1 0 genome.wustl.edu 37 1 107961248 107961248 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 1 107961248 107961248 G T SNP NTNG1 ENST00000370061 human ensembl 74_37 +1 known missense c.1134 p.E378D 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 tier1 - - 22 0 0.00 16 13 44.83 NUDCD1 0 genome.wustl.edu 37 8 110305659 110305659 + Missense_Mutation SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 8 110305659 110305659 A G SNP NUDCD1 ENST00000239690 human ensembl 74_37 -1 known missense c.554 p.L185P 1.000 NULL pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDCD1 HGNC ENSG00000120526 tier1 - - 31 0 0.00 33 5 13.16 NUFIP1 0 genome.wustl.edu 37 13 45523975 45523975 + Splice_Site SNP T T A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 13 45523975 45523975 T A SNP NUFIP1 ENST00000379161 human ensembl 74_37 -1 known splice_site c.1022-2 e8-2 1.000 - - - no_errors NUFIP1 HGNC ENSG00000083635 70 0 0.00 52 5 8.77 OR10G7 0 genome.wustl.edu 37 11 123909033 123909033 + Missense_Mutation SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 11 123909033 123909033 G A SNP OR10G7 ENST00000330487 human ensembl 74_37 -1 known missense c.676 p.R226W 0.032 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G7 HGNC ENSG00000182634 tier1 rs150421981 - 136 0 0.00 30 62 66.67 OR11A1 0 genome.wustl.edu 37 6 29394522 29394522 + Silent SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 6 29394522 29394522 A G SNP OR11A1 ENST00000377147 human ensembl 74_37 -1 known silent c.897 p.H299 0.645 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11A1 HGNC ENSG00000204694 tier1 - - 24 0 0.00 9 12 57.14 OXNAD1 0 genome.wustl.edu 37 3 16312569 16312569 + Missense_Mutation SNP C C T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 3 16312569 16312569 C T SNP OXNAD1 ENST00000544043 human ensembl 74_37 +1 known missense c.164 p.T55I 0.033 NULL pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6,superfamily_Riboflavin_synthase-like_b-brl,prints_Phe_hydroxylase,prints_NADH-Cyt_B5_reductase - no_errors OXNAD1 HGNC ENSG00000154814 tier1 - - 50 0 0.00 5 18 78.26 PCDHB4 0 genome.wustl.edu 37 5 140502263 140502263 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 5 140502263 140502263 G T SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known missense c.683 p.R228L 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 PCDHB4 HGNC ENSG00000081818 27 0 0.00 20 2 9.09 PDCD2 0 genome.wustl.edu 37 6 170892195 170892195 + Missense_Mutation SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 6 170892195 170892195 A G SNP PDCD2 ENST00000541970 human ensembl 74_37 -1 known missense c.608 p.M203T 0.000 pfam_PDCD2_C pfam_PDCD2_C,pfam_Znf_MYND,pfscan_Znf_MYND - no_errors PDCD2 HGNC ENSG00000071994 tier1 - - 30 0 0.00 5 30 85.71 PHF20L1 0 genome.wustl.edu 37 8 133806767 133806767 + Frame_Shift_Del DEL G G - TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 8 133806767 133806767 G - DEL PHF20L1 ENST00000486199 human ensembl 74_37 +1 known frame_shift_del c.195 p.L65fs 0.999 smart_Tudor,smart_Tudor-like_plant pfam_DUF3776,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 tier1 51 0 0.00 45 56 55.45 PHIP 0 genome.wustl.edu 37 6 79698018 79698018 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 6 79698018 79698018 G T SNP PHIP ENST00000275034 human ensembl 74_37 -1 known missense c.2368 p.Q790K 0.946 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 tier1 - - 64 0 0.00 14 14 50.00 PKD1L1 0 genome.wustl.edu 37 7 47955185 47955186 + Frame_Shift_Ins INS - - A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 7 47955185 47955186 0 A INS PKD1L1 ENST00000289672 human ensembl 74_37 -1 known frame_shift_ins c.1072_1071 p.H357fs 0.003:0.006 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 22 0 0.00 11 4 26.67 PLEKHG6 0 genome.wustl.edu 37 12 6427985 6427985 + Silent SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 12 6427985 6427985 G A SNP PLEKHG6 ENST00000011684 human ensembl 74_37 +1 known silent c.1350 p.K450 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC ENSG00000008323 tier1 - - 52 0 0.00 39 22 36.07 POLD2 0 genome.wustl.edu 37 7 44156828 44156828 + Missense_Mutation SNP A A T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 7 44156828 44156828 A T SNP POLD2 ENST00000406581 human ensembl 74_37 -1 known missense c.485 p.F162Y 0.003 NULL pfam_DNA_pol_alpha/epsilon_bsu - no_errors POLD2 HGNC ENSG00000106628 35 0 0.00 36 3 7.69 POP1 0 genome.wustl.edu 37 8 99139945 99139945 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 8 99139945 99139945 G T SNP POP1 ENST00000349693 human ensembl 74_37 +1 known missense c.265 p.A89S 1.000 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 tier1 - - 38 0 0.00 38 4 9.52 POTEC 0 genome.wustl.edu 37 18 14542753 14542753 + Silent SNP C C T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 18 14542753 14542753 C T SNP POTEC ENST00000358970 human ensembl 74_37 -1 known silent c.393 p.P131 0.000 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 POTEC HGNC ENSG00000183206 tier1 - - 191 0 0.00 110 37 25.17 POTEG 0 genome.wustl.edu 37 14 19574339 19574339 + Nonsense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 14 19574339 19574339 G T SNP POTEG ENST00000409832 human ensembl 74_37 +1 known nonsense c.1396 p.E466* 0.005 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 POTEG HGNC ENSG00000222036 tier1 - - 17 0 0.00 7 6 46.15 POTEH-AS1 0 genome.wustl.edu 37 22 16278128 16278128 + RNA SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 22 16278128 16278128 A G SNP POTEH-AS1 ENST00000422014 human ensembl 74_37 +1 known rna NULL NULL 0.230 - - - no_errors POTEH-AS1 HGNC ENSG00000236666 tier1 rs199670027 - 13 0 0.00 5 3 37.50 PPFIA3 0 genome.wustl.edu 37 19 49652529 49652529 + Missense_Mutation SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 19 49652529 49652529 G A SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known missense c.3301 p.E1101K 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 tier1 - - 49 0 0.00 29 9 23.68 PRPF3 0 genome.wustl.edu 37 1 150300856 150300856 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 1 150300856 150300856 G T SNP PRPF3 ENST00000324862 human ensembl 74_37 +1 known missense c.354 p.E118D 1.000 NULL pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors PRPF3 HGNC ENSG00000117360 tier1 - - 44 0 0.00 49 4 7.55 PRR16 0 genome.wustl.edu 37 5 120022338 120022338 + Silent SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 5 120022338 120022338 G T SNP PRR16 ENST00000407149 human ensembl 74_37 +1 known silent c.849 p.V283 1.000 NULL NULL - no_errors PRR16 HGNC ENSG00000184838 26 0 0.00 22 2 8.33 PTCH1 0 genome.wustl.edu 37 9 98242324 98242324 + Nonsense_Mutation SNP T T A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 9 98242324 98242324 T A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known nonsense c.994 p.R332* 0.596 tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 tier1 - - 28 0 0.00 6 24 80.00 PTPN14 0 genome.wustl.edu 37 1 214705746 214705746 + RNA SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 1 214705746 214705746 A G SNP PTPN14 ENST00000491277 human ensembl 74_37 -1 putative rna NULL NULL 0.954 - - - no_errors PTPN14 HGNC ENSG00000152104 tier1 - - 37 0 0.00 18 17 48.57 PTPRK 0 genome.wustl.edu 37 6 128718824 128718824 + Nonsense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 6 128718824 128718824 G T SNP PTPRK ENST00000392449 human ensembl 74_37 -1 known nonsense c.228 p.Y76* 0.983 NULL NULL - no_errors PTPRK HGNC ENSG00000152894 tier1 - - 26 0 0.00 16 4 20.00 PTPRO 0 genome.wustl.edu 37 12 15734634 15734634 + Missense_Mutation SNP C C T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 12 15734634 15734634 C T SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known missense c.3154 p.P1052S 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 tier1 - - 33 0 0.00 32 6 15.79 PTPRZ1 0 genome.wustl.edu 37 7 121650743 121650743 + Missense_Mutation SNP C C A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 7 121650743 121650743 C A SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.1643 p.S548Y 0.001 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 45 0 0.00 23 2 8.00 RACGAP1 0 genome.wustl.edu 37 12 50398047 50398047 + Missense_Mutation SNP T T C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 12 50398047 50398047 T C SNP RACGAP1 ENST00000312377 human ensembl 74_37 -1 known missense c.466 p.I156V 1.000 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors RACGAP1 HGNC ENSG00000161800 tier1 - - 28 0 0.00 20 11 35.48 RBAK 0 genome.wustl.edu 37 7 5104863 5104863 + Missense_Mutation SNP G G C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 7 5104863 5104863 G C SNP RBAK ENST00000353796 human ensembl 74_37 +1 known missense c.1776 p.E592D 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 RBAK HGNC ENSG00000146587 tier1 - - 21 0 0.00 16 9 36.00 REV3L 0 genome.wustl.edu 37 6 111694879 111694879 + Missense_Mutation SNP T T C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 6 111694879 111694879 T C SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.4679 p.N1560S 0.961 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 tier1 - - 85 0 0.00 52 6 10.34 RGPD4 0 genome.wustl.edu 37 2 108489085 108489085 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 2 108489085 108489085 G T SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.4625 p.G1542V 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 tier1 - - 30 0 0.00 27 8 22.86 RMND5B 0 genome.wustl.edu 37 5 177565148 177565148 + Nonsense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 5 177565148 177565148 G T SNP RMND5B ENST00000313386 human ensembl 74_37 +1 known nonsense c.28 p.E10* 1.000 NULL smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RMND5B HGNC ENSG00000145916 tier1 - - 36 0 0.00 14 15 51.72 RNF169 0 genome.wustl.edu 37 11 74546844 74546844 + Missense_Mutation SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 11 74546844 74546844 G A SNP RNF169 ENST00000299563 human ensembl 74_37 +1 known missense c.1196 p.G399D 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF169 HGNC ENSG00000166439 tier1 - - 41 0 0.00 51 13 20.31 RPLP0P2 0 genome.wustl.edu 37 11 61404336 61404336 + RNA SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 11 61404336 61404336 G A SNP RPLP0P2 ENST00000496593 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPLP0P2 HGNC ENSG00000243742 45 0 0.00 29 3 9.38 RPP38 0 genome.wustl.edu 37 10 15145535 15145535 + Missense_Mutation SNP A A T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 10 15145535 15145535 A T SNP RPP38 ENST00000378197 human ensembl 74_37 +1 known missense c.222 p.K74N 0.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors RPP38 HGNC ENSG00000152464 11 0 0.00 16 3 15.79 RUNDC1 0 genome.wustl.edu 37 17 41143344 41143344 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 17 41143344 41143344 G T SNP RUNDC1 ENST00000361677 human ensembl 74_37 +1 known missense c.1453 p.G485C 1.000 pfam_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC1 HGNC ENSG00000198863 33 0 0.00 32 3 8.57 SACS 0 genome.wustl.edu 37 13 23912397 23912397 + Missense_Mutation SNP T T C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 13 23912397 23912397 T C SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.5618 p.Y1873C 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 20 0 0.00 5 13 72.22 SCLT1 0 genome.wustl.edu 37 4 129858002 129858002 + Missense_Mutation SNP C C A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 4 129858002 129858002 C A SNP SCLT1 ENST00000281142 human ensembl 74_37 -1 known missense c.1637 p.S546I 1.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 39 0 0.00 20 3 13.04 SEMA3F 0 genome.wustl.edu 37 3 50222050 50222050 + Missense_Mutation SNP C C A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 3 50222050 50222050 C A SNP SEMA3F ENST00000002829 human ensembl 74_37 +1 known missense c.1259 p.S420Y 0.998 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3F HGNC ENSG00000001617 tier1 - - 55 0 0.00 3 22 88.00 SEMA6C 0 genome.wustl.edu 37 1 151105028 151105028 + Silent SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 1 151105028 151105028 G A SNP SEMA6C ENST00000368913 human ensembl 74_37 -1 known silent c.2821 p.L941 0.997 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6C HGNC ENSG00000143434 tier1 - - 63 0 0.00 33 30 47.62 SLC14A1 0 genome.wustl.edu 37 18 43310429 43310429 + Silent SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 18 43310429 43310429 G A SNP SLC14A1 ENST00000415427 human ensembl 74_37 +1 known silent c.312 p.Q104 1.000 NULL pfam_Urea_transporter - no_errors SLC14A1 HGNC ENSG00000141469 tier1 - - 21 0 0.00 12 5 29.41 SLC38A7 0 genome.wustl.edu 37 16 58701331 58701331 + Missense_Mutation SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 16 58701331 58701331 G A SNP SLC38A7 ENST00000564100 human ensembl 74_37 -1 putative missense c.944 p.A315V 1.000 NULL pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A7 HGNC ENSG00000103042 tier1 - - 26 0 0.00 22 6 21.43 SLC6A18 0 genome.wustl.edu 37 5 1238137 1238137 + Missense_Mutation SNP G G C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 5 1238137 1238137 G C SNP SLC6A18 ENST00000324642 human ensembl 74_37 +1 known missense c.694 p.G232R 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A18 HGNC ENSG00000164363 tier1 - - 33 0 0.00 20 34 62.96 SMCHD1 0 genome.wustl.edu 37 18 2688439 2688439 + Missense_Mutation SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 18 2688439 2688439 A G SNP SMCHD1 ENST00000320876 human ensembl 74_37 +1 known missense c.686 p.N229S 1.000 superfamily_HATPase_ATP-bd pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 tier1 - - 56 0 0.00 22 23 51.11 SMG7 0 genome.wustl.edu 37 1 183506344 183506344 + Missense_Mutation SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 1 183506344 183506344 A G SNP SMG7 ENST00000507469 human ensembl 74_37 +1 known missense c.1228 p.I410V 0.999 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 tier1 - - 84 0 0.00 49 16 24.62 SNRPN 0 genome.wustl.edu 37 15 25219552 25219552 + RNA SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 15 25219552 25219552 G A SNP SNRPN ENST00000553597 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors SNRPN HGNC ENSG00000128739 tier1 - - 75 0 0.00 48 17 26.15 SRPK1 0 genome.wustl.edu 37 6 35810356 35810356 + Missense_Mutation SNP T T C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 6 35810356 35810356 T C SNP SRPK1 ENST00000373825 human ensembl 74_37 -1 known missense c.1646 p.Y549C 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors SRPK1 HGNC ENSG00000096063 tier1 - - 12 0 0.00 12 5 29.41 SV2C 0 genome.wustl.edu 37 5 75428155 75428155 + Missense_Mutation SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 5 75428155 75428155 G A SNP SV2C ENST00000502798 human ensembl 74_37 +1 known missense c.580 p.G194S 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2C HGNC ENSG00000122012 tier1 - - 47 0 0.00 8 30 78.95 TAF5 0 genome.wustl.edu 37 10 105147814 105147814 + Missense_Mutation SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 10 105147814 105147814 A G SNP TAF5 ENST00000369839 human ensembl 74_37 +1 known missense c.2237 p.D746G 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TAF5 HGNC ENSG00000148835 tier1 - - 32 0 0.00 6 22 78.57 TANK 0 genome.wustl.edu 37 2 162036193 162036193 + Missense_Mutation SNP A A T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 2 162036193 162036193 A T SNP TANK ENST00000259075 human ensembl 74_37 +1 known missense c.20 p.E7V 1.000 NULL NULL - no_errors TANK HGNC ENSG00000136560 tier1 - - 34 0 0.00 21 20 48.78 TAS1R3 0 genome.wustl.edu 37 1 1266824 1266824 + Silent SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 1 1266824 1266824 G T SNP TAS1R3 ENST00000339381 human ensembl 74_37 +1 known silent c.99 p.G33 0.998 superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC ENSG00000169962 tier1 - - 34 0 0.00 24 10 29.41 TAS2R4 0 genome.wustl.edu 37 7 141478419 141478419 + Missense_Mutation SNP C C G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 7 141478419 141478419 C G SNP TAS2R4 ENST00000247881 human ensembl 74_37 +1 known missense c.131 p.S44C 0.980 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R4 HGNC ENSG00000127364 tier1 - - 62 0 0.00 32 4 11.11 TBC1D26 0 genome.wustl.edu 37 17 15641610 15641610 + Missense_Mutation SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 17 15641610 15641610 A G SNP TBC1D26 ENST00000437605 human ensembl 74_37 +1 known missense c.296 p.Y99C 0.413 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D26 HGNC ENSG00000214946 50 0 0.00 71 4 5.33 TDRD3 0 genome.wustl.edu 37 13 61103130 61103130 + Missense_Mutation SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 13 61103130 61103130 G A SNP TDRD3 ENST00000535286 human ensembl 74_37 +1 known missense c.1771 p.V591I 0.961 NULL pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 tier1 - - 27 0 0.00 8 22 70.97 TDRD9 0 genome.wustl.edu 37 14 104457550 104457550 + Missense_Mutation SNP T T A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 14 104457550 104457550 T A SNP TDRD9 ENST00000409874 human ensembl 74_37 +1 known missense c.1169 p.V390E 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TDRD9 HGNC ENSG00000156414 tier1 - - 73 0 0.00 98 12 10.81 TECRL 0 genome.wustl.edu 37 4 65145912 65145912 + Missense_Mutation SNP T T C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 4 65145912 65145912 T C SNP TECRL ENST00000381210 human ensembl 74_37 -1 known missense c.970 p.I324V 0.777 pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 tier1 - - 31 0 0.00 12 15 55.56 TFR2 0 genome.wustl.edu 37 7 100218538 100218538 + Missense_Mutation SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 7 100218538 100218538 A G SNP TFR2 ENST00000223051 human ensembl 74_37 -1 known missense c.2348 p.L783P 1.000 pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFR2 HGNC ENSG00000106327 tier1 - - 46 0 0.00 73 5 6.41 THSD7B 0 genome.wustl.edu 37 2 138320891 138320891 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 2 138320891 138320891 G T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.3248 p.R1083L 0.983 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 35 0 0.00 16 10 38.46 TLR1 0 genome.wustl.edu 37 4 38798859 38798859 + Missense_Mutation SNP G G C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 4 38798859 38798859 G C SNP TLR1 ENST00000308979 human ensembl 74_37 -1 known missense c.1594 p.L532V 0.861 pirsf_Toll-like_receptor,smart_Cys-rich_flank_reg_C pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR1 HGNC ENSG00000174125 tier1 - - 83 0 0.00 19 67 77.91 TMCC1 0 genome.wustl.edu 37 3 129547076 129547076 + Missense_Mutation SNP C C T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 3 129547076 129547076 C T SNP TMCC1 ENST00000393238 human ensembl 74_37 -1 known missense c.146 p.G49D 1.000 NULL pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC ENSG00000172765 tier1 - - 46 0 0.00 82 14 14.58 TMEM144 0 genome.wustl.edu 37 4 159156622 159156622 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 4 159156622 159156622 G T SNP TMEM144 ENST00000296529 human ensembl 74_37 +1 known missense c.528 p.W176C 1.000 pfam_DUF1632_TMEM144 pfam_DUF1632_TMEM144,pfam_Sugar_transport - no_errors TMEM144 HGNC ENSG00000164124 53 0 0.00 43 3 6.52 TMIGD1 0 genome.wustl.edu 37 17 28656289 28656289 + Missense_Mutation SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 17 28656289 28656289 G A SNP TMIGD1 ENST00000328886 human ensembl 74_37 -1 known missense c.341 p.S114L 0.916 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TMIGD1 HGNC ENSG00000182271 tier1 - - 45 0 0.00 29 10 25.64 TNR 0 genome.wustl.edu 37 1 175372316 175372316 + Silent SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 1 175372316 175372316 G A SNP TNR ENST00000263525 human ensembl 74_37 -1 known silent c.936 p.C312 0.652 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 tier1 - - 12 0 0.00 5 9 64.29 TNRC6A 0 genome.wustl.edu 37 16 24815534 24815534 + Missense_Mutation SNP A A T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 16 24815534 24815534 A T SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.3731 p.H1244L 1.000 superfamily_UBA-like pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 tier1 - - 21 0 0.00 19 12 38.71 TNRC6A 0 genome.wustl.edu 37 16 24802699 24802699 + Missense_Mutation SNP A A T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 16 24802699 24802699 A T SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.2736 p.E912D 0.995 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 16 0 0.00 13 3 18.75 TOX2 0 genome.wustl.edu 37 20 42697596 42697596 + RNA SNP C C A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 20 42697596 42697596 C A SNP TOX2 ENST00000435864 human ensembl 74_37 +1 known rna NULL NULL 0.630 - - - no_errors TOX2 HGNC ENSG00000124191 tier1 - - 33 0 0.00 19 20 51.28 TP53 0 genome.wustl.edu 37 17 7578370 7578370 + Splice_Site SNP C C A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 17 7578370 7578370 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.559+1 e4+1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 27 0 0.00 3 40 93.02 TP53BP1 0 genome.wustl.edu 37 15 43748729 43748729 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 15 43748729 43748729 G T SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known missense c.2077 p.P693T 0.003 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 27 0 0.00 33 2 5.71 TRAF7 0 genome.wustl.edu 37 16 2225837 2225837 + Silent SNP C C T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 16 2225837 2225837 C T SNP TRAF7 ENST00000326181 human ensembl 74_37 +1 known silent c.1629 p.I543 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 tier1 - - 20 0 0.00 19 12 38.71 UBE2L6 0 genome.wustl.edu 37 11 57322082 57322082 + Nonsense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 11 57322082 57322082 G T SNP UBE2L6 ENST00000287156 human ensembl 74_37 -1 known nonsense c.138 p.Y46* 1.000 pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2L6 HGNC ENSG00000156587 tier1 - - 106 0 0.00 64 32 33.33 UGGT1 0 genome.wustl.edu 37 2 128872722 128872722 + Missense_Mutation SNP C C T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 2 128872722 128872722 C T SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known missense c.721 p.L241F 1.000 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 tier1 - - 61 0 0.00 33 38 53.52 ZNF134 0 genome.wustl.edu 37 19 58131694 58131694 + Missense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 19 58131694 58131694 G T SNP ZNF134 ENST00000396161 human ensembl 74_37 +1 known missense c.207 p.Q69H 0.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF134 HGNC ENSG00000213762 tier1 - - 48 0 0.00 22 14 38.89 ZNF274 0 genome.wustl.edu 37 19 58718140 58718140 + Missense_Mutation SNP C C T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 19 58718140 58718140 C T SNP ZNF274 ENST00000326804 human ensembl 74_37 +1 known missense c.310 p.P104S 0.229 NULL pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF274 HGNC ENSG00000171606 tier1 - - 64 0 0.00 31 34 51.52 ZNF385D 0 genome.wustl.edu 37 3 21552422 21552422 + Missense_Mutation SNP T T C TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 3 21552422 21552422 T C SNP ZNF385D ENST00000281523 human ensembl 74_37 -1 known missense c.370 p.K124E 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 tier1 - - 153 0 0.00 62 29 31.87 ZNF394 0 genome.wustl.edu 37 7 99091249 99091249 + Missense_Mutation SNP C C G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 7 99091249 99091249 C G SNP ZNF394 ENST00000337673 human ensembl 74_37 -1 known missense c.1589 p.C530S 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF394 HGNC ENSG00000160908 tier1 - - 71 0 0.00 44 51 53.68 ZNF543 0 genome.wustl.edu 37 19 57839161 57839161 + Missense_Mutation SNP G G A TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 19 57839161 57839161 G A SNP ZNF543 ENST00000321545 human ensembl 74_37 +1 known missense c.331 p.G111R 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF543 HGNC ENSG00000178229 tier1 - - 37 0 0.00 21 8 27.59 ZNF99 0 genome.wustl.edu 37 19 22940554 22940554 + Silent SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7974aaf3-a7cb-40eb-8732-050581665d20 64b8eb74-7f4f-4df6-83c4-84fa94ee7f32 19 22940554 22940554 A G SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known silent c.1884 p.T628 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 24 0 0.00 29 2 6.45