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 ABI2 0 genome.wustl.edu 37 2 204240780 204240780 + Missense_Mutation SNP G G C TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 204240780 204240780 G C SNP ABI2 ENST00000261016 human ensembl 74_37 +1 known missense c.75 p.K25N 0.040 NULL pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors ABI2 HGNC ENSG00000138443 tier1 - - 61 0 0.00 26 13 33.33 ACACB 0 genome.wustl.edu 37 12 109629445 109629445 + Silent SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 12 109629445 109629445 G T SNP ACACB ENST00000338432 human ensembl 74_37 +1 known silent c.2172 p.L724 1.000 pfam_Biotin_COase_C,superfamily_Rudment_hybrid_motif,smart_Biotin_COase_C,pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 tier1 - - 80 0 0.00 38 4 9.52 ACRC 0 genome.wustl.edu 37 X 70823925 70823925 + Silent SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d X 70823925 70823925 C T SNP ACRC ENST00000373695 human ensembl 74_37 +1 known silent c.798 p.D266 0.203 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 tier1 - - 101 0 0.00 70 28 28.57 ADAMTS16 0 genome.wustl.edu 37 5 5209225 5209225 + Missense_Mutation SNP C C A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 5 5209225 5209225 C A SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.1471 p.L491I 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 tier1 - - 54 0 0.00 24 15 38.46 ADD2 0 genome.wustl.edu 37 2 70906066 70906066 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 70906066 70906066 G A SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known missense c.1153 p.H385Y 0.952 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 tier1 - - 29 0 0.00 9 6 40.00 AEBP1 0 genome.wustl.edu 37 7 44148552 44148552 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 7 44148552 44148552 C T SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known missense c.995 p.T332I 0.636 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 tier1 - - 44 0 0.00 22 13 37.14 AGBL5 0 genome.wustl.edu 37 2 27291605 27291605 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 27291605 27291605 G A SNP AGBL5 ENST00000360131 human ensembl 74_37 +1 known missense c.2348 p.R783Q 0.973 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 tier1 - - 71 0 0.00 33 17 34.00 AKR7A3 0 genome.wustl.edu 37 1 19612452 19612452 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 1 19612452 19612452 G A SNP AKR7A3 ENST00000361640 human ensembl 74_37 -1 known missense c.437 p.A146V 0.986 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A3 HGNC ENSG00000162482 76 0 0.00 55 4 6.78 ALMS1 0 genome.wustl.edu 37 2 73613052 73613052 + Missense_Mutation SNP A A C TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 73613052 73613052 A C SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.56 p.E19A 0.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 tier1 - - 77 0 0.00 69 22 24.18 ALMS1 0 genome.wustl.edu 37 2 73613049 73613049 + Missense_Mutation SNP A A C TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 73613049 73613049 A C SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.53 p.E18A 0.081 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 76 0 0.00 79 12 13.04 ANO4 0 genome.wustl.edu 37 12 101133764 101133764 + Missense_Mutation SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 12 101133764 101133764 G T SNP ANO4 ENST00000538618 human ensembl 74_37 +1 known missense c.239 p.R80L 0.001 NULL NULL - no_errors ANO4 HGNC ENSG00000151572 tier1 - - 71 0 0.00 54 4 6.90 AP3B2 0 genome.wustl.edu 37 15 83358148 83358148 + Silent SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 15 83358148 83358148 G T SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known silent c.171 p.A57 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 51 0 0.00 75 4 5.06 APC 0 genome.wustl.edu 37 5 112175951 112175952 + Frame_Shift_Ins INS - - A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 5 112175951 112175952 - A INS APC ENST00000257430 human ensembl 74_37 +1 known frame_shift_ins c.4660_4661 p.T1556fs 0.925:0.945 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 19 0 0.00 6 6 50.00 ARMCX4 0 genome.wustl.edu 37 X 100749292 100749292 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d X 100749292 100749292 G A SNP ARMCX4 ENST00000423738 human ensembl 74_37 +1 putative missense c.5716 p.A1906T 1.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 tier1 - - 79 0 0.00 45 23 33.82 ATP2B3 0 genome.wustl.edu 37 X 152845487 152845487 + Missense_Mutation SNP C C A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d X 152845487 152845487 C A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.3394 p.P1132T 1.000 pfam_ATP_Ca_trans_C pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 tier1 - - 74 0 0.00 35 13 27.08 AXDND1 0 genome.wustl.edu 37 1 179520618 179520618 + RNA SNP G G C TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 1 179520618 179520618 G C SNP AXDND1 ENST00000489080 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors AXDND1 HGNC ENSG00000162779 tier1 - - 29 0 0.00 7 4 36.36 BARD1 0 genome.wustl.edu 37 2 215609878 215609878 + Missense_Mutation SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 215609878 215609878 G T SNP BARD1 ENST00000260947 human ensembl 74_37 -1 known missense c.1816 p.H606N 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 tier1 - - 57 0 0.00 10 10 50.00 C19orf43 0 genome.wustl.edu 37 19 12842231 12842231 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 19 12842231 12842231 C T SNP C19orf43 ENST00000242784 human ensembl 74_37 -1 known missense c.350 p.G117D 1.000 NULL NULL - no_errors C19orf43 HGNC ENSG00000123144 tier1 - - 34 0 0.00 14 7 33.33 C1RL 0 genome.wustl.edu 37 12 7254566 7254566 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 12 7254566 7254566 G A SNP C1RL ENST00000266542 human ensembl 74_37 -1 known missense c.418 p.R140C 0.104 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C1RL HGNC ENSG00000139178 tier1 - - 55 0 0.00 9 25 73.53 C6orf165 0 genome.wustl.edu 37 6 88173824 88173824 + Silent SNP A A G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 6 88173824 88173824 A G SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known silent c.1725 p.P575 0.000 NULL pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 tier1 - - 30 0 0.00 17 4 19.05 C6orf222 0 genome.wustl.edu 37 6 36298422 36298422 + Missense_Mutation SNP C C A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 6 36298422 36298422 C A SNP C6orf222 ENST00000437635 human ensembl 74_37 -1 known missense c.46 p.A16S 0.012 NULL NULL - no_errors C6orf222 HGNC ENSG00000189325 tier1 - - 26 0 0.00 10 8 44.44 CACNA1F 0 genome.wustl.edu 37 X 49076164 49076164 + Missense_Mutation SNP T T G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d X 49076164 49076164 T G SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known missense c.2505 p.E835D 0.996 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 tier1 - - 23 0 0.00 16 13 44.83 CACNA1H 0 genome.wustl.edu 37 16 1256186 1256186 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 16 1256186 1256186 C T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.2686 p.R896C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 tier1 - - 88 0 0.00 38 28 42.42 CAV1 0 genome.wustl.edu 37 7 116199315 116199315 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 7 116199315 116199315 C T SNP CAV1 ENST00000341049 human ensembl 74_37 +1 known missense c.511 p.R171C 1.000 pfam_Caveolin pfam_Caveolin - no_errors CAV1 HGNC ENSG00000105974 tier1 - - 39 0 0.00 17 13 43.33 CCDC135 0 genome.wustl.edu 37 16 57735908 57735908 + Missense_Mutation SNP T T C TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 16 57735908 57735908 T C SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known missense c.565 p.F189L 1.000 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 53 0 0.00 46 3 6.12 CCDC150 0 genome.wustl.edu 37 2 197531526 197531526 + Missense_Mutation SNP A A T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 197531526 197531526 A T SNP CCDC150 ENST00000389175 human ensembl 74_37 +1 known missense c.846 p.K282N 0.000 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 tier1 - - 53 0 0.00 36 7 16.28 CCDC168 0 genome.wustl.edu 37 13 103385590 103385590 + Nonsense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 13 103385590 103385590 C T SNP CCDC168 ENST00000322527 human ensembl 74_37 -1 known nonsense c.3570 p.W1190* 0.000 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 tier1 - - 66 0 0.00 52 6 10.34 CCDC168 0 genome.wustl.edu 37 13 103385951 103385951 + Missense_Mutation SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 13 103385951 103385951 G T SNP CCDC168 ENST00000322527 human ensembl 74_37 -1 known missense c.3209 p.S1070Y 0.295 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 tier1 - - 24 0 0.00 16 6 27.27 CCDC82 0 genome.wustl.edu 37 11 96098165 96098165 + Silent SNP A A G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 11 96098165 96098165 A G SNP CCDC82 ENST00000278520 human ensembl 74_37 -1 known silent c.1359 p.N453 0.993 NULL NULL - no_errors CCDC82 HGNC ENSG00000149231 tier1 - - 67 0 0.00 12 21 63.64 CCKBR 0 genome.wustl.edu 37 11 6292639 6292639 + Missense_Mutation SNP A A G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 11 6292639 6292639 A G SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known missense c.1417 p.T473A 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 tier1 rs76115904 - 23 0 0.00 5 5 50.00 CD99 0 genome.wustl.edu 37 X 2651586 2651586 + RNA SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d X 2651586 2651586 C T SNP CD99 ENST00000482405 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CD99 HGNC ENSG00000002586 tier1 - - 45 0 0.00 20 12 37.50 CDH11 0 genome.wustl.edu 37 16 65006915 65006915 + Missense_Mutation SNP C C G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 16 65006915 65006915 C G SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1282 p.D428H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 28 0 0.00 15 3 16.67 CDKN2A 0 genome.wustl.edu 37 9 21974684 21974684 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 9 21974684 21974684 G A SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known missense c.143 p.P48L 0.960 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 tier1 - - 22 0 0.00 7 11 61.11 CENPK 0 genome.wustl.edu 37 5 64824852 64824852 + RNA SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 5 64824852 64824852 C T SNP CENPK ENST00000506282 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors CENPK HGNC ENSG00000123219 tier1 - - 55 0 0.00 12 14 53.85 CHD5 0 genome.wustl.edu 37 1 6206332 6206332 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 1 6206332 6206332 C T SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.1742 p.R581H 1.000 superfamily_Chromodomain-like pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 59 0 0.00 47 3 6.00 CHM 0 genome.wustl.edu 37 X 85218846 85218846 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d X 85218846 85218846 C T SNP CHM ENST00000357749 human ensembl 74_37 -1 known missense c.526 p.G176R 0.002 pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 tier1 - - 96 0 0.00 28 25 47.17 CHRM2 0 genome.wustl.edu 37 7 136699845 136699845 + Missense_Mutation SNP A A C TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 7 136699845 136699845 A C SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.233 p.N78T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 tier1 - - 54 0 0.00 18 20 52.63 CRY2 0 genome.wustl.edu 37 11 45892001 45892001 + Silent SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 11 45892001 45892001 C T SNP CRY2 ENST00000443527 human ensembl 74_37 +1 known silent c.1530 p.I510 0.998 pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY2 HGNC ENSG00000121671 tier1 - - 60 0 0.00 9 21 70.00 CSMD3 0 genome.wustl.edu 37 8 113293572 113293572 + Missense_Mutation SNP C C G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 8 113293572 113293572 C G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.9339 p.Q3113H 1.000 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP 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 - - 44 0 0.00 15 14 48.28 CSRP2BP 0 genome.wustl.edu 37 20 18123481 18123481 + Silent SNP C C G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 20 18123481 18123481 C G SNP CSRP2BP ENST00000435364 human ensembl 74_37 +1 known silent c.177 p.L59 1.000 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 tier1 - - 70 0 0.00 42 20 32.26 CST1 0 genome.wustl.edu 37 20 23728528 23728528 + Silent SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 20 23728528 23728528 C T SNP CST1 ENST00000304749 human ensembl 74_37 -1 known silent c.351 p.L117 0.339 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST1 HGNC ENSG00000170373 68 0 0.00 70 5 6.67 CYP19A1 0 genome.wustl.edu 37 15 51510761 51510761 + Silent SNP T T A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 15 51510761 51510761 T A SNP CYP19A1 ENST00000260433 human ensembl 74_37 -1 known silent c.720 p.L240 0.794 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP19A1 HGNC ENSG00000137869 52 0 0.00 50 3 5.66 CYP51A1 0 genome.wustl.edu 37 7 91761162 91761162 + Missense_Mutation SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 7 91761162 91761162 G T SNP CYP51A1 ENST00000003100 human ensembl 74_37 -1 known missense c.217 p.P73T 0.972 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP51A1 HGNC ENSG00000001630 tier1 - - 77 0 0.00 65 4 5.80 DCC 0 genome.wustl.edu 37 18 50918219 50918219 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 18 50918219 50918219 C T SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.2650 p.R884W 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 58 0 0.00 9 11 55.00 DCC 0 genome.wustl.edu 37 18 50923732 50923732 + Missense_Mutation SNP A A G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 18 50923732 50923732 A G SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.2743 p.M915V 0.983 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 67 0 0.00 13 16 55.17 DHRS9 0 genome.wustl.edu 37 2 169940039 169940039 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 169940039 169940039 G A SNP DHRS9 ENST00000432060 human ensembl 74_37 +1 known missense c.694 p.V232I 0.000 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 tier1 - - 53 0 0.00 28 21 42.86 DLEC1 0 genome.wustl.edu 37 3 38126915 38126915 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 3 38126915 38126915 G A SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.1412 p.R471Q 1.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 tier1 - - 24 0 0.00 10 10 50.00 DNAH7 0 genome.wustl.edu 37 2 196741378 196741378 + Missense_Mutation SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 196741378 196741378 G T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.6007 p.L2003I 0.968 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 - - 81 0 0.00 47 13 21.67 DNAH9 0 genome.wustl.edu 37 17 11607686 11607686 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 17 11607686 11607686 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.5318 p.R1773Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 tier1 - - 33 0 0.00 10 14 58.33 DNTTIP2 0 genome.wustl.edu 37 1 94343392 94343392 + Silent SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 1 94343392 94343392 C T SNP DNTTIP2 ENST00000436063 human ensembl 74_37 -1 known silent c.99 p.A33 0.004 NULL pfam_Fcf2 - no_errors DNTTIP2 HGNC ENSG00000067334 24 0 0.00 21 2 8.70 ENPP1 0 genome.wustl.edu 37 6 132199731 132199731 + Frame_Shift_Del DEL A A - TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 6 132199731 132199731 A - DEL ENPP1 ENST00000360971 human ensembl 74_37 +1 known frame_shift_del c.1943 p.E649fs 0.996 NULL pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000197594 tier1 26 0 0.00 27 2 6.90 ENSG00000223509 0 genome.wustl.edu 37 15 32815390 32815390 + RNA SNP T T A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 15 32815390 32815390 T A SNP ENSG00000223509 ENST00000561563 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-632K20.7 Clone_based_vega_gene ENSG00000223509 tier1 - - 115 0 0.00 87 53 37.86 ENSG00000232056 0 genome.wustl.edu 37 2 10994612 10994612 + Silent SNP A A T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 10994612 10994612 A T SNP ENSG00000232056 ENST00000418835 human ensembl 74_37 +1 putative silent c.120 p.S40 0.000 NULL NULL - no_errors AC092687.4 Clone_based_vega_gene ENSG00000232056 tier1 - - 68 0 0.00 44 13 22.81 ENSG00000238411 0 genome.wustl.edu 37 21 9683195 9683195 + RNA SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 21 9683195 9683195 G A SNP ENSG00000238411 ENST00000459169 human ensembl 74_37 +1 novel rna NULL NULL 0.002 - - - no_errors CR381670.1 Clone_based_ensembl_gene ENSG00000238411 tier1 - - 12 0 0.00 1 3 75.00 ENSG00000244327 0 genome.wustl.edu 37 3 142184164 142184164 + RNA DEL A A - TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 3 142184164 142184164 A - DEL ENSG00000244327 ENST00000460977 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-383G6.3 Clone_based_vega_gene ENSG00000244327 tier1 23 0 0.00 22 5 18.52 ENSG00000259618 0 genome.wustl.edu 37 15 50789123 50789123 + RNA SNP C C G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 15 50789123 50789123 C G SNP ENSG00000259618 ENST00000560159 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-562A8.5 Clone_based_vega_gene ENSG00000259618 tier1 - - 22 0 0.00 21 7 25.00 ENSG00000266490 0 genome.wustl.edu 37 17 29119437 29119437 + RNA SNP G G C TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 17 29119437 29119437 G C SNP ENSG00000266490 ENST00000580085 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2349P21.9 Clone_based_vega_gene ENSG00000266490 tier1 - - 48 0 0.00 10 14 58.33 ERMARD 0 genome.wustl.edu 37 6 170179348 170179348 + Missense_Mutation SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 6 170179348 170179348 G T SNP ERMARD ENST00000366773 human ensembl 74_37 +1 known missense c.1810 p.A604S 0.000 NULL NULL - no_errors ERMARD HGNC ENSG00000130023 81 0 0.00 71 4 5.26 ESCO1 0 genome.wustl.edu 37 18 19119902 19119902 + Missense_Mutation SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 18 19119902 19119902 G T SNP ESCO1 ENST00000269214 human ensembl 74_37 -1 known missense c.2022 p.D674E 0.999 NULL NULL - no_errors ESCO1 HGNC ENSG00000141446 tier1 - - 91 0 0.00 42 4 8.70 ESPNL 0 genome.wustl.edu 37 2 239033966 239033966 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 239033966 239033966 C T SNP ESPNL ENST00000343063 human ensembl 74_37 +1 known missense c.1043 p.A348V 0.014 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ESPNL HGNC ENSG00000144488 62 0 0.00 57 3 5.00 EXOC4 0 genome.wustl.edu 37 7 132937888 132937888 + Missense_Mutation SNP A A G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 7 132937888 132937888 A G SNP EXOC4 ENST00000253861 human ensembl 74_37 +1 known missense c.31 p.R11G 1.000 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 tier1 - - 41 0 0.00 23 6 20.69 FAM13C 0 genome.wustl.edu 37 10 61012695 61012695 + Missense_Mutation SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 10 61012695 61012695 G T SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known missense c.1396 p.P466T 0.945 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 tier1 - - 99 0 0.00 56 4 6.67 FAT4 0 genome.wustl.edu 37 4 126408614 126408614 + Frame_Shift_Del DEL A A - TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 4 126408614 126408614 A - DEL FAT4 ENST00000394329 human ensembl 74_37 +1 known frame_shift_del c.12931 p.N4312fs 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 38 0 0.00 36 5 12.20 FCER2 0 genome.wustl.edu 37 19 7761792 7761792 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 19 7761792 7761792 C T SNP FCER2 ENST00000346664 human ensembl 74_37 -1 known missense c.388 p.E130K 0.856 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors FCER2 HGNC ENSG00000104921 tier1 - - 28 0 0.00 13 11 45.83 FLRT2 0 genome.wustl.edu 37 14 86092284 86092284 + RNA SNP T T C TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 14 86092284 86092284 T C SNP FLRT2 ENST00000553650 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors FLRT2 HGNC ENSG00000185070 tier1 - - 35 0 0.00 21 11 34.38 FPGT 0 genome.wustl.edu 37 1 74670700 74670700 + Silent SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 1 74670700 74670700 C T SNP FPGT ENST00000370898 human ensembl 74_37 +1 known silent c.1008 p.V336 1.000 pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase - no_errors FPGT HGNC ENSG00000254685 tier1 - - 10 0 0.00 5 11 68.75 FUS 0 genome.wustl.edu 37 16 31201636 31201636 + Silent SNP T T A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 16 31201636 31201636 T A SNP FUS ENST00000254108 human ensembl 74_37 +1 known silent c.1209 p.G403 0.984 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors FUS HGNC ENSG00000089280 59 0 0.00 35 5 12.20 GPR141 0 genome.wustl.edu 37 7 37780495 37780495 + Missense_Mutation SNP T T A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 7 37780495 37780495 T A SNP GPR141 ENST00000334425 human ensembl 74_37 +1 known missense c.500 p.F167Y 0.995 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR141 HGNC ENSG00000187037 tier1 - - 69 0 0.00 40 22 35.48 GRM3 0 genome.wustl.edu 37 7 86394478 86394478 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 7 86394478 86394478 G A SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.17 p.R6K 1.000 prints_GPCR_3_mtglu_rcpt_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,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 tier1 - - 52 0 0.00 24 17 41.46 HECTD4 0 genome.wustl.edu 37 12 112665918 112665918 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 12 112665918 112665918 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.6313 p.R2105W 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 39 0 0.00 14 20 58.82 HIVEP2 0 genome.wustl.edu 37 6 143091582 143091582 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 6 143091582 143091582 C T SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.4294 p.V1432M 0.161 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 tier1 - - 67 0 0.00 37 19 33.93 HKR1 0 genome.wustl.edu 37 19 37853618 37853618 + Silent SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 19 37853618 37853618 G T SNP HKR1 ENST00000324411 human ensembl 74_37 +1 known silent c.921 p.G307 0.859 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 HKR1 HGNC ENSG00000181666 61 0 0.00 37 3 7.50 HLA-B 0 genome.wustl.edu 37 6 31322279 31322279 + Missense_Mutation SNP T T G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 6 31322279 31322279 T G SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known missense c.1070 p.D357A 0.071 pfam_MHC_I_a_C pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 tier1 - - 75 0 0.00 18 15 45.45 HNRNPU 0 genome.wustl.edu 37 1 245018808 245018808 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 1 245018808 245018808 G A SNP HNRNPU ENST00000283179 human ensembl 74_37 -1 known missense c.2270 p.P757L 1.000 NULL pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPU HGNC ENSG00000153187 tier1 - - 93 0 0.00 79 28 25.93 HTR2C 0 genome.wustl.edu 37 X 114082577 114082577 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d X 114082577 114082577 C T SNP HTR2C ENST00000276198 human ensembl 74_37 +1 known missense c.361 p.P121S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 tier1 - - 59 0 0.00 20 10 33.33 IQSEC3 0 genome.wustl.edu 37 12 235008 235008 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 12 235008 235008 C T SNP IQSEC3 ENST00000326261 human ensembl 74_37 +1 known missense c.833 p.A278V 0.841 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC3 HGNC ENSG00000120645 15 0 0.00 4 3 42.86 KCND2 0 genome.wustl.edu 37 7 120385969 120385969 + Missense_Mutation SNP A A C TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 7 120385969 120385969 A C SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.1603 p.K535Q 1.000 pfam_K_chnl_volt-dep_Kv4_C pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 tier1 - - 27 0 0.00 13 15 53.57 KIF4A 0 genome.wustl.edu 37 X 69595951 69595951 + Missense_Mutation SNP T T A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d X 69595951 69595951 T A SNP KIF4A ENST00000374403 human ensembl 74_37 +1 known missense c.1925 p.M642K 0.995 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 tier1 - - 47 0 0.00 25 4 13.79 KIF5C 0 genome.wustl.edu 37 2 149850990 149850990 + Missense_Mutation SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 149850990 149850990 G T SNP KIF5C ENST00000435030 human ensembl 74_37 +1 known missense c.1961 p.R654M 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 23 0 0.00 16 2 11.11 KLHDC4 0 genome.wustl.edu 37 16 87799505 87799505 + RNA SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 16 87799505 87799505 G T SNP KLHDC4 ENST00000564484 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KLHDC4 HGNC ENSG00000104731 tier1 - - 13 0 0.00 7 6 46.15 KLHL29 0 genome.wustl.edu 37 2 23926687 23926687 + Missense_Mutation SNP A A G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 23926687 23926687 A G SNP KLHL29 ENST00000486442 human ensembl 74_37 +1 known missense c.2398 p.N800D 1.000 smart_Kelch_1 pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL29 HGNC ENSG00000119771 57 0 0.00 38 4 9.52 KMT2A 0 genome.wustl.edu 37 11 118352585 118352585 + Nonsense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 11 118352585 118352585 C T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known nonsense c.3790 p.R1264* 0.745 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 20 0 0.00 1 9 90.00 LIMCH1 0 genome.wustl.edu 37 4 41621412 41621412 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 4 41621412 41621412 G A SNP LIMCH1 ENST00000503057 human ensembl 74_37 +1 known missense c.413 p.S138N 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 tier1 - - 26 0 0.00 18 10 35.71 LINC00469 0 genome.wustl.edu 37 17 71819932 71819932 + RNA SNP T T G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 17 71819932 71819932 T G SNP LINC00469 ENST00000321800 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00469 HGNC ENSG00000177338 tier1 - - 74 0 0.00 47 25 34.72 LOC100505635 0 genome.wustl.edu 37 6 39854202 39854202 + RNA SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 6 39854202 39854202 G T SNP LOC100505635 ENST00000607215 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-61I13.3 Clone_based_vega_gene ENSG00000235033 tier1 - - 77 0 0.00 73 4 5.19 LOC101927345 0 genome.wustl.edu 37 1 143399743 143399743 + RNA SNP A A G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 1 143399743 143399743 A G SNP LOC101927345 ENST00000431700 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 16 0 0.00 4 4 50.00 LOC101929948 0 genome.wustl.edu 37 14 19563232 19563232 + RNA SNP T T C TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 14 19563232 19563232 T C SNP LOC101929948 ENST00000548748 human ensembl 74_37 -1 known rna NULL NULL 0.050 - - - no_errors CTD-2311B13.5 Clone_based_vega_gene ENSG00000258252 tier1 - - 13 0 0.00 3 4 57.14 LRP1B 0 genome.wustl.edu 37 2 141625248 141625248 + Missense_Mutation SNP T T G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 141625248 141625248 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.4490 p.K1497T 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 104 0 0.00 52 32 38.10 LRRN4 0 genome.wustl.edu 37 20 6031506 6031506 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 20 6031506 6031506 C T SNP LRRN4 ENST00000378858 human ensembl 74_37 -1 known missense c.779 p.C260Y 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 tier1 - - 42 0 0.00 34 15 30.61 LRRTM4 0 genome.wustl.edu 37 2 76975989 76975989 + Silent SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 76975989 76975989 G A SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known silent c.1608 p.I536 0.011 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 tier1 - - 73 0 0.00 44 22 33.33 LRRTM4 0 genome.wustl.edu 37 2 77746402 77746402 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 77746402 77746402 C T SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.596 p.R199Q 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 tier1 - - 51 0 0.00 12 20 62.50 LRSAM1 0 genome.wustl.edu 37 9 130265235 130265235 + RNA SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 9 130265235 130265235 G A SNP LRSAM1 ENST00000483302 human ensembl 74_37 +1 known rna NULL NULL 0.040 - - - no_errors LRSAM1 HGNC ENSG00000148356 tier1 - - 41 0 0.00 28 14 33.33 LSP1 0 genome.wustl.edu 37 11 1901450 1901450 + Missense_Mutation SNP A A G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 11 1901450 1901450 A G SNP LSP1 ENST00000311604 human ensembl 74_37 +1 known missense c.187 p.M63V 0.165 NULL pfam_Caldesmon_LSP,prints_Lymphspecific - no_errors LSP1 HGNC ENSG00000130592 tier1 - - 131 0 0.00 37 37 50.00 MAGEB5 0 genome.wustl.edu 37 X 26235915 26235915 + Missense_Mutation SNP A A C TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d X 26235915 26235915 A C SNP MAGEB5 ENST00000379029 human ensembl 74_37 +1 known missense c.497 p.K166T 0.008 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEB5 HGNC ENSG00000188408 tier1 - - 63 0 0.00 41 19 31.67 MAGEE2 0 genome.wustl.edu 37 X 75004084 75004084 + Missense_Mutation SNP T T G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d X 75004084 75004084 T G SNP MAGEE2 ENST00000373359 human ensembl 74_37 -1 known missense c.803 p.K268T 0.380 pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 tier1 - - 64 0 0.00 37 7 15.91 MASP1 0 genome.wustl.edu 37 3 186980434 186980434 + Missense_Mutation SNP C C G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 3 186980434 186980434 C G SNP MASP1 ENST00000296280 human ensembl 74_37 -1 known missense c.312 p.Q104H 0.967 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors MASP1 HGNC ENSG00000127241 tier1 - - 39 0 0.00 13 14 51.85 MEOX2 0 genome.wustl.edu 37 7 15666529 15666529 + Missense_Mutation SNP T T G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 7 15666529 15666529 T G SNP MEOX2 ENST00000262041 human ensembl 74_37 -1 known missense c.532 p.N178H 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MEOX2 HGNC ENSG00000106511 tier1 - - 55 0 0.00 20 14 41.18 MRC2 0 genome.wustl.edu 37 17 60743591 60743591 + Silent SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 17 60743591 60743591 C T SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known silent c.657 p.Y219 0.398 pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 tier1 - - 35 0 0.00 18 8 30.77 MT-ND4L 0 genome.wustl.edu 37 MT 10675 10675 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d MT 10675 10675 G A SNP MT-ND4L ENST00000361335 human ensembl 74_37 +1 known missense c.206 p.C69Y NULL pfam_NADH_UbQ_OxRdtase_chain4L/K pfam_NADH_UbQ_OxRdtase_chain4L/K - no_errors MT-ND4L HGNC ENSG00000212907 tier1 - - 37 0 0.00 0 26 100.00 MVP 0 genome.wustl.edu 37 16 29857512 29857512 + Silent SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 16 29857512 29857512 G A SNP MVP ENST00000357402 human ensembl 74_37 +1 known silent c.2172 p.A724 0.000 NULL pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 tier1 - - 57 0 0.00 37 21 36.21 MYO15A 0 genome.wustl.edu 37 17 18036644 18036644 + Missense_Mutation SNP T T C TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 17 18036644 18036644 T C SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.4426 p.F1476L 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 tier1 - - 35 0 0.00 9 9 50.00 MYO18B 0 genome.wustl.edu 37 22 26299695 26299695 + Missense_Mutation SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 22 26299695 26299695 G T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.5045 p.C1682F 0.004 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 - - 43 0 0.00 18 3 14.29 MYRFL 0 genome.wustl.edu 37 12 70284933 70284933 + Frame_Shift_Del DEL T T - TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 12 70284933 70284933 T - DEL MYRFL ENST00000552032 human ensembl 74_37 +1 putative frame_shift_del c.890 p.F298fs 1.000 pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRFL HGNC ENSG00000166268 tier1 51 0 0.00 30 2 6.25 NAV3 0 genome.wustl.edu 37 12 78444891 78444891 + Missense_Mutation SNP T T C TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 12 78444891 78444891 T C SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.2480 p.L827P 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 tier1 - - 80 0 0.00 27 36 57.14 NBEA 0 genome.wustl.edu 37 13 35751233 35751233 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 13 35751233 35751233 G A SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.4655 p.R1552Q 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 84 0 0.00 33 35 51.47 NCAPD3 0 genome.wustl.edu 37 11 134078847 134078848 + Splice_Site INS - - A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 11 134078847 134078848 - A INS NCAPD3 ENST00000534548 human ensembl 74_37 -1 known splice_site_ins c.795-3_795-2 e7-2 1.000:0.997 - - - no_errors NCAPD3 HGNC ENSG00000151503 tier1 50 0 0.00 27 3 10.00 NFYB 0 genome.wustl.edu 37 12 104517094 104517094 + Silent SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 12 104517094 104517094 G A SNP NFYB ENST00000240055 human ensembl 74_37 -1 known silent c.339 p.I113 1.000 pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_NFYB/HAP3 pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_NFYB/HAP3 - no_errors NFYB HGNC ENSG00000120837 tier1 - - 60 0 0.00 10 7 41.18 NR0B1 0 genome.wustl.edu 37 X 30323947 30323947 + Silent SNP A A G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d X 30323947 30323947 A G SNP NR0B1 ENST00000453287 human ensembl 74_37 -1 known silent c.1194 p.N398 0.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Str_hrmn_rcpt - no_errors NR0B1 HGNC ENSG00000169297 tier1 - - 150 0 0.00 71 30 29.70 NRXN1 0 genome.wustl.edu 37 2 50733692 50733692 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 50733692 50733692 C T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.2414 p.R805H 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 51 0 0.00 36 2 5.26 OR10H3 0 genome.wustl.edu 37 19 15852244 15852244 + Silent SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 19 15852244 15852244 C T SNP OR10H3 ENST00000305892 human ensembl 74_37 +1 known silent c.42 p.L14 0.107 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H3 HGNC ENSG00000171936 tier1 - - 121 0 0.00 33 28 45.90 OR13C5 0 genome.wustl.edu 37 9 107360878 107360878 + Missense_Mutation SNP A A C TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 9 107360878 107360878 A C SNP OR13C5 ENST00000374779 human ensembl 74_37 -1 known missense c.817 p.L273V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C5 HGNC ENSG00000255800 tier1 - - 88 0 0.00 48 25 34.25 OR4C12 0 genome.wustl.edu 37 11 50003542 50003542 + Missense_Mutation SNP A A C TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 11 50003542 50003542 A C SNP OR4C12 ENST00000335238 human ensembl 74_37 -1 known missense c.496 p.F166V 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4C12 HGNC ENSG00000221954 tier1 - - 60 0 0.00 16 21 56.76 OR56B1 0 genome.wustl.edu 37 11 5757862 5757862 + Missense_Mutation SNP C C A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 11 5757862 5757862 C A SNP OR56B1 ENST00000317121 human ensembl 74_37 +1 known missense c.116 p.P39H 0.611 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR56B1 HGNC ENSG00000181023 tier1 - - 97 0 0.00 19 22 52.38 P2RY10 0 genome.wustl.edu 37 X 78216863 78216863 + Silent SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d X 78216863 78216863 C T SNP P2RY10 ENST00000171757 human ensembl 74_37 +1 known silent c.846 p.I282 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors P2RY10 HGNC ENSG00000078589 tier1 - - 78 0 0.00 47 19 28.79 PAMR1 0 genome.wustl.edu 37 11 35515725 35515725 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 11 35515725 35515725 C T SNP PAMR1 ENST00000278360 human ensembl 74_37 -1 known missense c.169 p.G57R 0.931 NULL pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 tier1 - - 43 0 0.00 12 14 53.85 PARK2 0 genome.wustl.edu 37 6 161990396 161990396 + Silent SNP T T C TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 6 161990396 161990396 T C SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known silent c.924 p.G308 1.000 pirsf_Parkin,prints_Parkin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 tier1 - - 25 0 0.00 21 19 47.50 PCDH18 0 genome.wustl.edu 37 4 138442670 138442670 + Missense_Mutation SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 4 138442670 138442670 G T SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.2921 p.A974E 0.979 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 tier1 - - 25 0 0.00 11 10 47.62 PCDHA14 0 genome.wustl.edu 37 5 140243029 140243029 + RNA SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 5 140243029 140243029 G A SNP PCDHA14 ENST00000562220 human ensembl 74_37 +1 putative rna NULL NULL 0.915 - - - no_errors PCDHA14 HGNC ENSG00000249504 tier1 - - 39 0 0.00 19 8 29.63 PCDHB3 0 genome.wustl.edu 37 5 140481518 140481518 + Missense_Mutation SNP C C A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 5 140481518 140481518 C A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1285 p.P429T 0.992 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 PCDHB3 HGNC ENSG00000113205 tier1 - - 112 0 0.00 37 32 46.38 PCDHB3 0 genome.wustl.edu 37 5 140481519 140481519 + Missense_Mutation SNP C C A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 5 140481519 140481519 C A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1286 p.P429H 0.991 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 PCDHB3 HGNC ENSG00000113205 tier1 - - 112 0 0.00 39 32 45.07 PCLO 0 genome.wustl.edu 37 7 82784982 82784982 + Missense_Mutation SNP C C G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 7 82784982 82784982 C G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.975 p.Q325H 0.878 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 36 0 0.00 10 12 54.55 PCM1 0 genome.wustl.edu 37 8 17814238 17814238 + Nonsense_Mutation SNP C C G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 8 17814238 17814238 C G SNP PCM1 ENST00000325083 human ensembl 74_37 +1 known nonsense c.1598 p.S533* 1.000 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 tier1 - - 42 0 0.00 24 14 36.84 PLXNB3 0 genome.wustl.edu 37 X 153033156 153033156 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d X 153033156 153033156 G A SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known missense c.943 p.A315T 0.434 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB3 HGNC ENSG00000198753 9 0 0.00 1 3 75.00 PORCN 0 genome.wustl.edu 37 X 48368281 48368281 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d X 48368281 48368281 G A SNP PORCN ENST00000326194 human ensembl 74_37 +1 known missense c.73 p.G25S 1.000 NULL pfam_MBOAT_fam - no_errors PORCN HGNC ENSG00000102312 tier1 - - 55 0 0.00 17 6 26.09 PPARGC1A 0 genome.wustl.edu 37 4 23831179 23831179 + Missense_Mutation SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 4 23831179 23831179 G T SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known missense c.459 p.N153K 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 tier1 - - 66 0 0.00 57 5 8.06 PPP1R12A 0 genome.wustl.edu 37 12 80201093 80201093 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 12 80201093 80201093 C T SNP PPP1R12A ENST00000261207 human ensembl 74_37 -1 known missense c.1568 p.R523Q 0.991 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC ENSG00000058272 tier1 rs202164787 - 72 0 0.00 8 23 74.19 PPP1R13B 0 genome.wustl.edu 37 14 104251168 104251168 + Nonsense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 14 104251168 104251168 G A SNP PPP1R13B ENST00000202556 human ensembl 74_37 -1 known nonsense c.241 p.R81* 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 tier1 - - 93 0 0.00 62 29 31.87 PRKAR2B 0 genome.wustl.edu 37 7 106791394 106791394 + Missense_Mutation SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 7 106791394 106791394 G T SNP PRKAR2B ENST00000265717 human ensembl 74_37 +1 known missense c.769 p.V257L 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR2B HGNC ENSG00000005249 tier1 - - 35 0 0.00 17 7 29.17 PROL1 0 genome.wustl.edu 37 4 71275215 71275215 + Missense_Mutation SNP T T G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 4 71275215 71275215 T G SNP PROL1 ENST00000399575 human ensembl 74_37 +1 putative missense c.170 p.L57R 0.000 NULL NULL - no_errors PROL1 HGNC ENSG00000171199 tier1 - - 71 0 0.00 37 14 27.45 PSTPIP1 0 genome.wustl.edu 37 15 77320223 77320223 + Missense_Mutation SNP A A T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 15 77320223 77320223 A T SNP PSTPIP1 ENST00000559785 human ensembl 74_37 +1 known missense c.580 p.S194C 1.000 superfamily_Prismane-like pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom - no_errors PSTPIP1 HGNC ENSG00000140368 tier1 - - 71 0 0.00 61 12 16.22 PTPRS 0 genome.wustl.edu 37 19 5220288 5220288 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 19 5220288 5220288 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.3535 p.D1179N 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 tier1 - - 54 0 0.00 16 20 55.56 PXDNL 0 genome.wustl.edu 37 8 52323850 52323850 + Missense_Mutation SNP T T G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 8 52323850 52323850 T G SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2022 p.E674D 0.025 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 - - 53 0 0.00 25 19 43.18 RABGAP1 0 genome.wustl.edu 37 9 125827753 125827753 + Frame_Shift_Del DEL A A - TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 9 125827753 125827753 A - DEL RABGAP1 ENST00000456584 human ensembl 74_37 +1 known frame_shift_del c.1717 p.K576fs 0.000 pfscan_Rab-GTPase-TBC_dom pfam_Kinesin-like,pfam_Rab-GTPase-TBC_dom,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 tier1 32 0 0.00 21 3 12.50 RB1CC1 0 genome.wustl.edu 37 8 53586543 53586543 + Silent SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 8 53586543 53586543 C T SNP RB1CC1 ENST00000025008 human ensembl 74_37 -1 known silent c.864 p.Q288 1.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 tier1 - - 87 0 0.00 41 16 28.07 RERG 0 genome.wustl.edu 37 12 15370380 15370380 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 12 15370380 15370380 G A SNP RERG ENST00000256953 human ensembl 74_37 -1 known missense c.44 p.A15V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RERG HGNC ENSG00000134533 tier1 - - 130 0 0.00 27 44 61.97 REXO4 0 genome.wustl.edu 37 9 136282883 136282883 + Silent SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 9 136282883 136282883 G T SNP REXO4 ENST00000371942 human ensembl 74_37 -1 known silent c.82 p.R28 0.277 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO4 HGNC ENSG00000148300 51 0 0.00 38 2 5.00 RHCG 0 genome.wustl.edu 37 15 90021169 90021169 + Nonsense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 15 90021169 90021169 C T SNP RHCG ENST00000558030 human ensembl 74_37 -1 known nonsense c.678 p.W226* 1.000 NULL pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHCG HGNC ENSG00000140519 tier1 - - 33 0 0.00 16 21 56.76 RPL26P30 0 genome.wustl.edu 37 11 2356961 2356961 + RNA SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 11 2356961 2356961 C T SNP RPL26P30 ENST00000602923 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RPL26P30 HGNC ENSG00000236264 tier1 - - 91 0 0.00 12 32 72.73 RPRD2 0 genome.wustl.edu 37 1 150444985 150444985 + Missense_Mutation SNP C C G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 1 150444985 150444985 C G SNP RPRD2 ENST00000369068 human ensembl 74_37 +1 known missense c.3561 p.N1187K 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom - no_errors RPRD2 HGNC ENSG00000163125 tier1 - - 33 0 0.00 22 27 55.10 SACS 0 genome.wustl.edu 37 13 23911144 23911144 + Missense_Mutation SNP C C A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 13 23911144 23911144 C A SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.6871 p.D2291Y 0.951 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 - - 94 0 0.00 56 17 23.29 SALL1 0 genome.wustl.edu 37 16 51171261 51171261 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 16 51171261 51171261 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.3737 p.A1246V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 47 0 0.00 38 20 34.48 SDK1 0 genome.wustl.edu 37 7 4188991 4188991 + Silent SNP C C A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 7 4188991 4188991 C A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.4521 p.S1507 0.973 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 106 0 0.00 61 7 10.29 SELE 0 genome.wustl.edu 37 1 169702094 169702094 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 1 169702094 169702094 G A SNP SELE ENST00000333360 human ensembl 74_37 -1 known missense c.83 p.T28M 0.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELE HGNC ENSG00000007908 tier1 rs139816972 - 28 0 0.00 11 15 57.69 SEMA4B 0 genome.wustl.edu 37 15 90771824 90771824 + Silent SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 15 90771824 90771824 C T SNP SEMA4B ENST00000332496 human ensembl 74_37 +1 known silent c.2463 p.C821 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4B HGNC ENSG00000185033 53 0 0.00 49 3 5.77 SEPT6 0 genome.wustl.edu 37 X 118767380 118767380 + Missense_Mutation SNP C C A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d X 118767380 118767380 C A SNP SEPT6 ENST00000394617 human ensembl 74_37 -1 known missense c.1122 p.Q374H 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT6 HGNC ENSG00000125354 tier1 - - 57 0 0.00 29 11 27.50 SERPINA12 0 genome.wustl.edu 37 14 94964544 94964544 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 14 94964544 94964544 G A SNP SERPINA12 ENST00000341228 human ensembl 74_37 -1 known missense c.191 p.A64V 0.003 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA12 HGNC ENSG00000165953 tier1 - - 35 0 0.00 11 10 47.62 SH2B3 0 genome.wustl.edu 37 12 111884777 111884777 + Missense_Mutation SNP T T C TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 12 111884777 111884777 T C SNP SH2B3 ENST00000341259 human ensembl 74_37 +1 putative missense c.866 p.V289A 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Phe_ZIP,pfam_SH2,pfam_Pleckstrin_homology,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B3 HGNC ENSG00000111252 tier1 - - 24 0 0.00 6 4 40.00 SLAMF1 0 genome.wustl.edu 37 1 160589583 160589583 + Missense_Mutation SNP G G C TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 1 160589583 160589583 G C SNP SLAMF1 ENST00000302035 human ensembl 74_37 -1 known missense c.847 p.Q283E 1.000 NULL pfam_Sig_lymph_act_molc_N,pfscan_Ig-like_dom - no_errors SLAMF1 HGNC ENSG00000117090 tier1 - - 134 0 0.00 59 65 52.42 SLC38A5 0 genome.wustl.edu 37 X 48324664 48324664 + Missense_Mutation SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d X 48324664 48324664 G T SNP SLC38A5 ENST00000317669 human ensembl 74_37 -1 known missense c.365 p.A122E 0.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A5 HGNC ENSG00000017483 tier1 - - 137 0 0.00 94 49 34.03 SLC4A10 0 genome.wustl.edu 37 2 162567135 162567135 + RNA SNP T T G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 162567135 162567135 T G SNP SLC4A10 ENST00000481721 human ensembl 74_37 +1 known rna NULL NULL 0.793 - - - no_errors SLC4A10 HGNC ENSG00000144290 tier1 - - 73 0 0.00 38 21 35.59 SLC4A4 0 genome.wustl.edu 37 4 72120957 72120957 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 4 72120957 72120957 G A SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known missense c.94 p.G32R 1.000 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 tier1 - - 48 0 0.00 44 4 8.33 SNED1 0 genome.wustl.edu 37 2 241991277 241991277 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 241991277 241991277 G A SNP SNED1 ENST00000310397 human ensembl 74_37 +1 known missense c.1852 p.G618R 1.000 NULL pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 tier1 - - 46 0 0.00 35 15 30.00 TDRD10 0 genome.wustl.edu 37 1 154515285 154515285 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 1 154515285 154515285 C T SNP TDRD10 ENST00000368480 human ensembl 74_37 +1 known missense c.491 p.P164L 0.617 NULL pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 tier1 - - 64 0 0.00 54 16 22.54 TDRD15 0 genome.wustl.edu 37 2 21363718 21363718 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 21363718 21363718 G A SNP TDRD15 ENST00000405799 human ensembl 74_37 +1 novel missense c.3379 p.G1127R 1.000 NULL pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors TDRD15 HGNC ENSG00000218819 tier1 - - 32 0 0.00 15 10 40.00 TECPR2 0 genome.wustl.edu 37 14 102964034 102964034 + Silent SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 14 102964034 102964034 C T SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known silent c.4059 p.P1353 0.351 pfam_Beta-propeller_rpt_TECPR,smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 14 0 0.00 23 2 8.00 TG 0 genome.wustl.edu 37 8 133981759 133981759 + Missense_Mutation SNP A A T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 8 133981759 133981759 A T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.5920 p.M1974L 0.026 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 69 0 0.00 70 4 5.41 THAP11 0 genome.wustl.edu 37 16 67876687 67876687 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 16 67876687 67876687 C T SNP THAP11 ENST00000303596 human ensembl 74_37 +1 known missense c.230 p.P77L 1.000 smart_Znf_C2CH,pfscan_Znf_C2CH pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP11 HGNC ENSG00000168286 tier1 - - 41 0 0.00 47 6 11.32 TKTL1 0 genome.wustl.edu 37 X 153543622 153543622 + Missense_Mutation SNP T T A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d X 153543622 153543622 T A SNP TKTL1 ENST00000369915 human ensembl 74_37 +1 known missense c.964 p.S322T 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL1 HGNC ENSG00000007350 tier1 - - 65 0 0.00 31 15 32.61 TMCO5B 0 genome.wustl.edu 37 15 33528802 33528802 + RNA SNP T T C TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 15 33528802 33528802 T C SNP TMCO5B ENST00000529696 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors TMCO5B HGNC ENSG00000215296 tier1 - - 77 0 0.00 46 25 35.21 TP53 0 genome.wustl.edu 37 17 7577563 7577563 + Missense_Mutation SNP T T A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 17 7577563 7577563 T A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.718 p.S240C 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 313 0 0.00 93 15 13.89 TPTE2P2 0 genome.wustl.edu 37 13 52795752 52795752 + RNA SNP A A G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 13 52795752 52795752 A G SNP TPTE2P2 ENST00000606973 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors TPTE2P2 HGNC ENSG00000272281 36 0 0.00 33 5 13.16 TTC40 0 genome.wustl.edu 37 10 134682830 134682830 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 10 134682830 134682830 G A SNP TTC40 ENST00000368586 human ensembl 74_37 -1 putative missense c.4558 p.R1520C 0.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 - - 24 0 0.00 18 11 37.93 UBE2D1 0 genome.wustl.edu 37 10 60121256 60121256 + Missense_Mutation SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 10 60121256 60121256 G T SNP UBE2D1 ENST00000373910 human ensembl 74_37 +1 known missense c.90 p.L30F 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2D1 HGNC ENSG00000072401 55 0 0.00 58 4 6.45 UNC13C 0 genome.wustl.edu 37 15 54305554 54305554 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 15 54305554 54305554 C T SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.454 p.R152C 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 19 0 0.00 12 4 25.00 VGLL1 0 genome.wustl.edu 37 X 135632827 135632827 + RNA SNP T T G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d X 135632827 135632827 T G SNP VGLL1 ENST00000470358 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors VGLL1 HGNC ENSG00000102243 tier1 - - 40 0 0.00 14 8 36.36 WEE2 0 genome.wustl.edu 37 7 141427103 141427103 + Splice_Site SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 7 141427103 141427103 G A SNP WEE2 ENST00000397541 human ensembl 74_37 +1 known splice_site c.1393-1 e10-1 0.998 - - - no_errors WEE2 HGNC ENSG00000214102 tier1 - - 64 0 0.00 33 12 26.67 WFIKKN1 0 genome.wustl.edu 37 16 682590 682590 + Silent SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 16 682590 682590 G A SNP WFIKKN1 ENST00000319070 human ensembl 74_37 +1 known silent c.180 p.A60 0.000 pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC ENSG00000127578 tier1 - - 88 0 0.00 52 19 26.76 WNT3 0 genome.wustl.edu 37 17 44851047 44851047 + Silent SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 17 44851047 44851047 G A SNP WNT3 ENST00000225512 human ensembl 74_37 -1 known silent c.309 p.P103 0.024 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3 HGNC ENSG00000108379 tier1 - - 53 0 0.00 43 10 18.87 WNT3 0 genome.wustl.edu 37 17 44851241 44851241 + Missense_Mutation SNP C C A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 17 44851241 44851241 C A SNP WNT3 ENST00000225512 human ensembl 74_37 -1 known missense c.115 p.G39C 1.000 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3 HGNC ENSG00000108379 tier1 - - 37 0 0.00 32 11 25.58 WNT7B 0 genome.wustl.edu 37 22 46326986 46326986 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 22 46326986 46326986 C T SNP WNT7B ENST00000339464 human ensembl 74_37 -1 known missense c.562 p.G188S 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7B HGNC ENSG00000188064 tier1 - - 42 0 0.00 23 17 42.50 XIRP2 0 genome.wustl.edu 37 2 168107319 168107319 + Silent SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 2 168107319 168107319 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.9417 p.N3139 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 28 0 0.00 8 9 52.94 XPO7 0 genome.wustl.edu 37 8 21840253 21840253 + Nonsense_Mutation SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 8 21840253 21840253 G T SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known nonsense c.1234 p.E412* 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 tier1 - - 42 0 0.00 32 16 33.33 ZBTB11 0 genome.wustl.edu 37 3 101370141 101370141 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 3 101370141 101370141 G A SNP ZBTB11 ENST00000312938 human ensembl 74_37 -1 known missense c.3031 p.L1011F 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ENSG00000066422 tier1 - - 60 0 0.00 26 25 49.02 ZDHHC11B 0 genome.wustl.edu 37 5 710914 710914 + RNA SNP T T A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 5 710914 710914 T A SNP ZDHHC11B ENST00000522356 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors ZDHHC11B HGNC ENSG00000206077 tier1 - - 76 0 0.00 90 6 6.25 ZDHHC11B 0 genome.wustl.edu 37 5 710944 710944 + RNA SNP A A G TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 5 710944 710944 A G SNP ZDHHC11B ENST00000522356 human ensembl 74_37 -1 known rna NULL NULL 0.078 - - - no_errors ZDHHC11B HGNC ENSG00000206077 tier1 - - 77 0 0.00 95 7 6.80 ZFR2 0 genome.wustl.edu 37 19 3810782 3810782 + Missense_Mutation SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 19 3810782 3810782 C T SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known missense c.2399 p.R800Q 1.000 pfam_DZF,smart_DZF pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 tier1 - - 87 0 0.00 29 16 35.56 ZIC4 0 genome.wustl.edu 37 3 147105931 147105931 + RNA SNP C C T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 3 147105931 147105931 C T SNP ZIC4 ENST00000472749 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors ZIC4 HGNC ENSG00000174963 tier1 - - 21 0 0.00 10 6 37.50 ZNF568 0 genome.wustl.edu 37 19 37482690 37482690 + Silent SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 19 37482690 37482690 G A SNP ZNF568 ENST00000455427 human ensembl 74_37 +1 known silent c.375 p.L125 0.997 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 tier1 - - 49 0 0.00 20 16 44.44 ZNF808 0 genome.wustl.edu 37 19 53058029 53058029 + Silent SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 19 53058029 53058029 G A SNP ZNF808 ENST00000359798 human ensembl 74_37 +1 known silent c.1860 p.E620 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 ZNF808 HGNC ENSG00000198482 tier1 - - 53 0 0.00 12 12 50.00 ZNF850 0 genome.wustl.edu 37 19 37239131 37239131 + Silent SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 19 37239131 37239131 G A SNP ZNF850 ENST00000591344 human ensembl 74_37 -1 known silent c.2811 p.F937 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF850 HGNC ENSG00000267041 tier1 - - 100 0 0.00 26 20 43.48 ZNF880 0 genome.wustl.edu 37 19 52888071 52888071 + Missense_Mutation SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bba70246-cc50-48cf-af2a-4e725334d2a4 ebf1e76d-bce2-4ee7-ab3c-6b004e11303d 19 52888071 52888071 G T SNP ZNF880 ENST00000422689 human ensembl 74_37 +1 known missense c.1238 p.C413F 1.000 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 ZNF880 HGNC ENSG00000221923 tier1 rs12975097 - 49 0 0.00 17 5 22.73