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 101928757 0 genome.wustl.edu 37 10 17865242 17865242 + Silent SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 10 17865242 17865242 G T SNP 101928757 ENST00000457317 human ensembl 74_37 +1 known silent c.231 p.V77 0.637 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_Ricin_B_lectin,superfamily_C-type_lectin_fold,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 MRC1L1 Clone_based_vega_gene ENSG00000183748 tier1 - - 183 0 0.00 105 23 17.97 ABCA2 0 genome.wustl.edu 37 9 139915182 139915182 + Nonsense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 9 139915182 139915182 C T SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known nonsense c.1229 p.W410* 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 tier1 - - 57 0 0.00 74 14 15.91 ACACA 0 genome.wustl.edu 37 17 35487049 35487049 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 35487049 35487049 G T SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.5775 p.D1925E 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_C 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,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,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 ACACA HGNC ENSG00000132142 84 0 0.00 66 4 5.63 ACOT8 0 genome.wustl.edu 37 20 44485829 44485829 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 20 44485829 44485829 G T SNP ACOT8 ENST00000217455 human ensembl 74_37 -1 known missense c.126 p.F42L 1.000 tigrfam_Acyl_CoA_thio pfam_Acyl_CoA_thio_II_dom,tigrfam_Acyl_CoA_thio - no_errors ACOT8 HGNC ENSG00000101473 97 0 0.00 66 4 5.71 ADAM19 0 genome.wustl.edu 37 5 156908789 156908789 + Missense_Mutation SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 5 156908789 156908789 G C SNP ADAM19 ENST00000517905 human ensembl 74_37 -1 putative missense c.2713 p.R905G 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 tier1 - - 40 0 0.00 39 23 37.10 ADAMTS13 0 genome.wustl.edu 37 9 136307651 136307651 + Silent SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 9 136307651 136307651 G T SNP ADAMTS13 ENST00000371929 human ensembl 74_37 +1 known silent c.2100 p.G700 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 tier1 - - 31 0 0.00 35 4 10.26 ADCY10P1 0 genome.wustl.edu 37 6 41078986 41078986 + RNA SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 41078986 41078986 G T SNP ADCY10P1 ENST00000567255 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors ADCY10P1 HGNC ENSG00000161912 tier1 - - 41 0 0.00 41 15 26.79 ADCY7 0 genome.wustl.edu 37 16 50325780 50325780 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 16 50325780 50325780 C T SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.509 p.T170M 0.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 48 0 0.00 49 4 7.55 ADIRF-AS1 0 genome.wustl.edu 37 10 88728258 88728258 + RNA SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 10 88728258 88728258 G C SNP ADIRF-AS1 ENST00000609111 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ADIRF-AS1 HGNC ENSG00000272734 tier1 - - 46 0 0.00 25 30 54.55 ADPGK-AS1 0 genome.wustl.edu 37 15 73076342 73076342 + RNA SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 15 73076342 73076342 G T SNP ADPGK-AS1 ENST00000563592 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors ADPGK-AS1 HGNC ENSG00000260898 tier1 - - 141 0 0.00 68 4 5.56 AFF3 0 genome.wustl.edu 37 2 100623662 100623662 + Silent SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 100623662 100623662 A G SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known silent c.510 p.T170 0.018 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 tier1 - - 54 0 0.00 18 16 47.06 AIM1 0 genome.wustl.edu 37 6 106967402 106967402 + Silent SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 106967402 106967402 G A SNP AIM1 ENST00000369066 human ensembl 74_37 +1 known silent c.1095 p.E365 0.001 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 tier1 - - 31 0 0.00 17 10 37.04 AK9 0 genome.wustl.edu 37 6 109980576 109980576 + Missense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 109980576 109980576 C G SNP AK9 ENST00000424296 human ensembl 74_37 -1 known missense c.485 p.R162T 1.000 pfam_Adenylate_kin,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 tier1 - - 35 0 0.00 43 31 41.89 AKAP4 0 genome.wustl.edu 37 X 49961618 49961618 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 X 49961618 49961618 C T SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known missense c.200 p.G67D 0.020 smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 tier1 - - 36 0 0.00 29 4 12.12 AMBP 0 genome.wustl.edu 37 9 116823765 116823765 + Silent SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 9 116823765 116823765 G A SNP AMBP ENST00000265132 human ensembl 74_37 -1 known silent c.792 p.C264 0.959 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_A1-microglobln,prints_PstgldnD_synth,prints_Prot_inh_Kunz-m,prints_Lipocalin - no_errors AMBP HGNC ENSG00000106927 86 0 0.00 56 4 6.67 AMBRA1 0 genome.wustl.edu 37 11 46568608 46568609 + RNA INS - - A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 46568608 46568609 - A INS AMBRA1 ENST00000524783 human ensembl 74_37 -1 known rna NULL NULL 0.032:0.881 - - - no_errors AMBRA1 HGNC ENSG00000110497 tier1 23 0 0.00 15 3 16.67 AMY2B 0 genome.wustl.edu 37 1 104114789 104114789 + Missense_Mutation SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 104114789 104114789 A G SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.226 p.R76G 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 tier1 - - 428 0 0.00 132 142 51.82 ANKS6 0 genome.wustl.edu 37 9 101542471 101542471 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 9 101542471 101542471 C A SNP ANKS6 ENST00000375018 human ensembl 74_37 -1 known missense c.1368 p.K456N 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 tier1 - - 126 0 0.00 76 4 5.00 APOB 0 genome.wustl.edu 37 2 21257724 21257724 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 21257724 21257724 C T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.868 p.D290N 1.000 pfam_Lipid_transpt_N,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 77 0 0.00 85 25 22.73 APOBR 0 genome.wustl.edu 37 16 28507452 28507452 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 16 28507452 28507452 G T SNP APOBR ENST00000564831 human ensembl 74_37 +1 known missense c.1090 p.G364W 0.000 NULL NULL - no_errors APOBR HGNC ENSG00000184730 tier1 - - 25 0 0.00 27 6 18.18 ARHGEF12 0 genome.wustl.edu 37 11 120317116 120317116 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 120317116 120317116 G T SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known missense c.1293 p.K431N 0.994 pfam_RGS-like_dom,superfamily_Regulat_G_prot_signal_superfam pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 23 0 0.00 23 3 11.54 ARRDC4 0 genome.wustl.edu 37 15 98512358 98512358 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 15 98512358 98512358 G T SNP ARRDC4 ENST00000268042 human ensembl 74_37 +1 known missense c.631 p.A211S 1.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC4 HGNC ENSG00000140450 tier1 - - 53 0 0.00 37 4 9.76 ATAD3C 0 genome.wustl.edu 37 1 1396169 1396169 + Silent SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 1396169 1396169 C T SNP ATAD3C ENST00000378785 human ensembl 74_37 +1 known silent c.852 p.F284 0.960 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_DUF3523,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3C HGNC ENSG00000215915 tier1 - - 71 0 0.00 55 29 34.52 ATP1A2 0 genome.wustl.edu 37 1 160093781 160093781 + Missense_Mutation SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 160093781 160093781 T C SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.430 p.F144L 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A2 HGNC ENSG00000018625 89 0 0.00 71 4 5.33 BARD1 0 genome.wustl.edu 37 2 215646173 215646173 + Nonsense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 215646173 215646173 G T SNP BARD1 ENST00000260947 human ensembl 74_37 -1 known nonsense c.425 p.S142* 0.997 NULL 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 - - 53 0 0.00 10 31 75.61 BBS10 0 genome.wustl.edu 37 12 76740691 76740691 + Silent SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 12 76740691 76740691 C T SNP BBS10 ENST00000393262 human ensembl 74_37 -1 known silent c.1074 p.S358 0.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS10 HGNC ENSG00000179941 38 0 0.00 22 3 12.00 BEGAIN 0 genome.wustl.edu 37 14 101012872 101012872 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 14 101012872 101012872 C T SNP BEGAIN ENST00000355173 human ensembl 74_37 -1 known missense c.142 p.E48K 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors BEGAIN HGNC ENSG00000183092 tier1 - - 53 0 0.00 37 13 26.00 BLM 0 genome.wustl.edu 37 15 91295023 91295023 + Missense_Mutation SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 15 91295023 91295023 G C SNP BLM ENST00000355112 human ensembl 74_37 +1 known missense c.806 p.S269T 0.000 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 tier1 - - 45 0 0.00 35 11 23.91 BMPR1B 0 genome.wustl.edu 37 4 96035919 96035919 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 4 96035919 96035919 G T SNP BMPR1B ENST00000440890 human ensembl 74_37 +1 known missense c.282 p.L94F 0.187 pfam_Activin_rcpt pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors BMPR1B HGNC ENSG00000138696 56 0 0.00 52 3 5.45 BNIP3L 0 genome.wustl.edu 37 8 26265848 26265848 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 8 26265848 26265848 C A SNP BNIP3L ENST00000380629 human ensembl 74_37 +1 known missense c.567 p.F189L 1.000 pfam_BNIP3 pfam_BNIP3 - no_errors BNIP3L HGNC ENSG00000104765 tier1 - - 60 0 0.00 83 27 24.32 BOD1L1 0 genome.wustl.edu 37 4 13604639 13604639 + Silent SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 4 13604639 13604639 C T SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known silent c.3885 p.S1295 0.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 45 0 0.00 29 3 9.38 BRI3 0 genome.wustl.edu 37 7 97935907 97935907 + RNA SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 7 97935907 97935907 C G SNP BRI3 ENST00000485422 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BRI3 HGNC ENSG00000164713 tier1 - - 33 0 0.00 24 6 20.00 BRIP1 0 genome.wustl.edu 37 17 59878759 59878759 + Missense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 59878759 59878759 C G SNP BRIP1 ENST00000259008 human ensembl 74_37 -1 known missense c.995 p.C332S 0.000 pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC ENSG00000136492 tier1 - - 70 0 0.00 62 13 17.33 BRWD1 0 genome.wustl.edu 37 21 40571099 40571099 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 21 40571099 40571099 G T SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known missense c.5243 p.T1748K 0.361 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 68 0 0.00 53 3 5.36 BTBD11 0 genome.wustl.edu 37 12 108004132 108004132 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 12 108004132 108004132 G T SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.1809 p.Q603H 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 56 0 0.00 58 5 7.94 C16orf3 0 genome.wustl.edu 37 16 90095558 90095558 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 16 90095558 90095558 C T SNP C16orf3 ENST00000408886 human ensembl 74_37 -1 known missense c.193 p.G65S 0.000 NULL NULL - no_errors C16orf3 HGNC ENSG00000221819 tier1 rs76646627 - 73 0 0.00 56 5 8.06 C16orf87 0 genome.wustl.edu 37 16 46858307 46858307 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 16 46858307 46858307 G T SNP C16orf87 ENST00000285697 human ensembl 74_37 -1 known missense c.154 p.P52T 0.971 NULL pfam_UPF0547 - no_errors C16orf87 HGNC ENSG00000155330 52 0 0.00 40 4 9.09 C1QTNF2 0 genome.wustl.edu 37 5 159776483 159776483 + Missense_Mutation SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 5 159776483 159776483 T C SNP C1QTNF2 ENST00000393975 human ensembl 74_37 -1 known missense c.685 p.S229G 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF2 HGNC ENSG00000145861 27 0 0.00 36 4 10.00 C1orf159 0 genome.wustl.edu 37 1 1026335 1026335 + Missense_Mutation SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 1026335 1026335 T C SNP C1orf159 ENST00000379339 human ensembl 74_37 -1 known missense c.101 p.N34S 0.002 NULL NULL - no_errors C1orf159 HGNC ENSG00000131591 tier1 - - 69 0 0.00 39 11 22.00 C5orf45 0 genome.wustl.edu 37 5 179264379 179264379 + RNA SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 5 179264379 179264379 G T SNP C5orf45 ENST00000523267 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors C5orf45 HGNC ENSG00000161010 tier1 - - 48 0 0.00 74 4 5.13 C6 0 genome.wustl.edu 37 5 41186174 41186174 + Missense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 5 41186174 41186174 C G SNP C6 ENST00000263413 human ensembl 74_37 -1 known missense c.724 p.E242Q 1.000 NULL pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 tier1 - - 55 0 0.00 34 7 17.07 CA10 0 genome.wustl.edu 37 17 50235351 50235351 + RNA SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 50235351 50235351 A G SNP CA10 ENST00000573294 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CA10 HGNC ENSG00000154975 tier1 - - 31 0 0.00 32 5 13.51 CACNA1A 0 genome.wustl.edu 37 19 13470461 13470461 + Nonsense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 13470461 13470461 G A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known nonsense c.937 p.Q313* 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 tier1 - - 73 0 0.00 96 8 7.69 CAMK1D 0 genome.wustl.edu 37 10 12811688 12811688 + Missense_Mutation SNP A A C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 10 12811688 12811688 A C SNP CAMK1D ENST00000378847 human ensembl 74_37 +1 known missense c.455 p.Y152S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK1D HGNC ENSG00000183049 tier1 - - 67 0 0.00 31 27 46.55 CARD6 0 genome.wustl.edu 37 5 40853632 40853632 + Missense_Mutation SNP T T A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 5 40853632 40853632 T A SNP CARD6 ENST00000254691 human ensembl 74_37 +1 known missense c.2198 p.L733H 0.001 NULL pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD - no_errors CARD6 HGNC ENSG00000132357 tier1 - - 47 0 0.00 26 6 18.75 CASP1 0 genome.wustl.edu 37 11 104897037 104897037 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 104897037 104897037 G T SNP CASP1 ENST00000436863 human ensembl 74_37 -1 known missense c.1163 p.T388N 0.930 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_p10 pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP1 HGNC ENSG00000137752 39 0 0.00 28 2 6.67 CASP8AP2 0 genome.wustl.edu 37 6 90583853 90583853 + RNA SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 90583853 90583853 A G SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.988 - - - no_errors CASP8AP2 HGNC ENSG00000118412 tier1 - - 65 0 0.00 50 33 39.76 CBWD6 0 genome.wustl.edu 37 9 69247529 69247529 + Silent SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 9 69247529 69247529 G A SNP CBWD6 ENST00000377457 human ensembl 74_37 -1 known silent c.483 p.Y161 1.000 pfam_CobW/HypB/UreG_dom,superfamily_P-loop_NTPase pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C - no_errors CBWD6 HGNC ENSG00000204790 42 0 0.00 35 4 10.26 CCDC150 0 genome.wustl.edu 37 2 197531518 197531518 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 197531518 197531518 C A SNP CCDC150 ENST00000389175 human ensembl 74_37 +1 known missense c.838 p.Q280K 0.494 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 tier1 - - 60 0 0.00 61 7 10.29 CCDC79 0 genome.wustl.edu 37 16 66812784 66812784 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 16 66812784 66812784 C T SNP CCDC79 ENST00000433154 human ensembl 74_37 -1 known missense c.835 p.A279T 1.000 superfamily_ARM-type_fold pfam_SANT/Myb,superfamily_ARM-type_fold,superfamily_Homeodomain-like,superfamily_Cytokine_IL1-like,smart_SANT/Myb - no_errors CCDC79 HGNC ENSG00000249961 tier1 - - 41 0 0.00 48 4 7.69 CCDC88A 0 genome.wustl.edu 37 2 55529026 55529026 + Nonsense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 55529026 55529026 G A SNP CCDC88A ENST00000436346 human ensembl 74_37 -1 known nonsense c.4654 p.Q1552* 1.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 tier1 - - 45 0 0.00 38 7 15.56 CD248 0 genome.wustl.edu 37 11 66082524 66082524 + Silent SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 66082524 66082524 G A SNP CD248 ENST00000311330 human ensembl 74_37 -1 known silent c.1975 p.L659 0.001 NULL pfam_C-type_lectin,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_C-type_lectin - no_errors CD248 HGNC ENSG00000174807 49 0 0.00 58 4 6.35 CD47 0 genome.wustl.edu 37 3 107764071 107764071 + RNA SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 3 107764071 107764071 G C SNP CD47 ENST00000471694 human ensembl 74_37 -1 known rna NULL NULL 0.105 - - - no_errors CD47 HGNC ENSG00000196776 tier1 - - 62 0 0.00 13 10 43.48 CD97 0 genome.wustl.edu 37 19 14515276 14515276 + Missense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 14515276 14515276 G A SNP CD97 ENST00000242786 human ensembl 74_37 +1 known missense c.1531 p.E511K 0.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 tier1 - - 34 0 0.00 22 18 45.00 CDC27 0 genome.wustl.edu 37 17 45199823 45199823 + Silent SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 45199823 45199823 T C SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known silent c.2397 p.Q799 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 tier1 - - 38 0 0.00 42 11 20.75 CDH10 0 genome.wustl.edu 37 5 24491686 24491686 + Silent SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 5 24491686 24491686 C G SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known silent c.1875 p.L625 0.948 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 tier1 - - 46 0 0.00 24 7 22.58 CDH13 0 genome.wustl.edu 37 16 83065787 83065787 + Silent SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 16 83065787 83065787 G T SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known silent c.330 p.V110 0.923 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 tier1 - - 68 0 0.00 33 8 19.51 CDH19 0 genome.wustl.edu 37 18 64176315 64176315 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 18 64176315 64176315 C A SNP CDH19 ENST00000262150 human ensembl 74_37 -1 known missense c.1745 p.C582F 0.973 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 tier1 - - 85 0 0.00 36 7 16.28 CDHR2 0 genome.wustl.edu 37 5 176011726 176011726 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 5 176011726 176011726 G T SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known missense c.2444 p.G815V 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 tier1 - - 74 0 0.00 43 10 18.87 CEP128 0 genome.wustl.edu 37 14 81361010 81361010 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 14 81361010 81361010 C A SNP CEP128 ENST00000327841 human ensembl 74_37 -1 known missense c.477 p.K159N 0.037 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 tier1 - - 50 0 0.00 16 3 15.00 CEP152 0 genome.wustl.edu 37 15 49031175 49031175 + Frame_Shift_Del DEL T T - TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 15 49031175 49031175 T - DEL CEP152 ENST00000380950 human ensembl 74_37 -1 known frame_shift_del c.4404 p.G1469fs 0.779 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 tier1 48 0 0.00 13 2 13.33 CEP85 0 genome.wustl.edu 37 1 26604553 26604553 + RNA SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 26604553 26604553 C A SNP CEP85 ENST00000469609 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CEP85 HGNC ENSG00000130695 tier1 - - 13 0 0.00 5 9 64.29 CHIAP2 0 genome.wustl.edu 37 1 111827665 111827665 + RNA SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 111827665 111827665 T C SNP CHIAP2 ENST00000369743 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CHIAP2 HGNC ENSG00000203878 tier1 - - 75 0 0.00 36 30 45.45 CHRM4 0 genome.wustl.edu 37 11 46407570 46407570 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 46407570 46407570 C A SNP CHRM4 ENST00000433765 human ensembl 74_37 -1 known missense c.538 p.V180L 0.997 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_Musac_Ach_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_M4_rcpt - no_errors CHRM4 HGNC ENSG00000180720 tier1 - - 47 0 0.00 16 6 27.27 CHRNA1 0 genome.wustl.edu 37 2 175614679 175614679 + Missense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 175614679 175614679 G A SNP CHRNA1 ENST00000261007 human ensembl 74_37 -1 known missense c.1072 p.R358W 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNA1 HGNC ENSG00000138435 tier1 - - 28 0 0.00 18 5 21.74 CHRNA1 0 genome.wustl.edu 37 2 175614871 175614871 + Missense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 175614871 175614871 C G SNP CHRNA1 ENST00000261007 human ensembl 74_37 -1 known missense c.880 p.V294L 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNA1 HGNC ENSG00000138435 tier1 - - 65 0 0.00 43 12 21.82 CNNM2 0 genome.wustl.edu 37 10 104828355 104828355 + RNA SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 10 104828355 104828355 G C SNP CNNM2 ENST00000475511 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CNNM2 HGNC ENSG00000148842 tier1 - - 51 0 0.00 28 7 20.00 COL18A1 0 genome.wustl.edu 37 21 46914474 46914474 + Nonsense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 21 46914474 46914474 C T SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known nonsense c.3613 p.R1205* 0.999 pfam_Collagen pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 tier1 - - 63 0 0.00 46 4 8.00 COL28A1 0 genome.wustl.edu 37 7 7491958 7491958 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 7 7491958 7491958 C A SNP COL28A1 ENST00000399429 human ensembl 74_37 -1 known missense c.1501 p.G501C 1.000 pfam_Collagen pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 tier1 - - 71 0 0.00 37 15 28.85 COL4A4 0 genome.wustl.edu 37 2 227973326 227973326 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 227973326 227973326 C T SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.706 p.V236M 0.919 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 tier1 - - 95 0 0.00 15 40 72.73 COX7A2L 0 genome.wustl.edu 37 2 42578274 42578275 + RNA INS - - A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 42578274 42578275 - A INS COX7A2L ENST00000482463 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.000 - - - no_errors COX7A2L HGNC ENSG00000115944 tier1 22 0 0.00 22 4 15.38 CPM 0 genome.wustl.edu 37 12 69250413 69250413 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 12 69250413 69250413 G T SNP CPM ENST00000338356 human ensembl 74_37 -1 known missense c.1136 p.P379Q 0.979 superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Aste_AspA,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPM HGNC ENSG00000135678 tier1 - - 44 0 0.00 58 4 6.45 CPSF1 0 genome.wustl.edu 37 8 145626338 145626338 + Silent SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 8 145626338 145626338 G A SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known silent c.519 p.H173 0.996 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 tier1 - - 35 0 0.00 49 21 30.00 CRYAA 0 genome.wustl.edu 37 21 44589920 44589921 + Frame_Shift_Ins INS - - C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 21 44589920 44589921 - C INS CRYAA ENST00000398133 human ensembl 74_37 +1 putative frame_shift_ins c.86_87 p.P33fs 0.000:0.026 superfamily_HSP20-like_chaperone pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors CRYAA HGNC ENSG00000160202 tier1 78 0 0.00 39 7 15.22 CSMD3 0 genome.wustl.edu 37 8 113392679 113392679 + Missense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 8 113392679 113392679 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.6038 p.T2013I 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 56 0 0.00 27 2 6.90 CSNK1A1P1 0 genome.wustl.edu 37 15 37110510 37110510 + RNA SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 15 37110510 37110510 G T SNP CSNK1A1P1 ENST00000430593 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CSNK1A1P1 HGNC ENSG00000223518 33 0 0.00 57 4 6.56 CSPG4 0 genome.wustl.edu 37 15 75985560 75985560 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 15 75985560 75985560 C T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.103 p.E35K 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 tier1 - - 293 0 0.00 128 126 49.61 CUL3 0 genome.wustl.edu 37 2 225367752 225367752 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 225367752 225367752 C T SNP CUL3 ENST00000264414 human ensembl 74_37 -1 known missense c.1415 p.G472E 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL3 HGNC ENSG00000036257 tier1 - - 64 0 0.00 15 41 73.21 CUTC 0 genome.wustl.edu 37 10 101515475 101515475 + Missense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 10 101515475 101515475 C G SNP CUTC ENST00000370476 human ensembl 74_37 +1 known missense c.801 p.I267M 1.000 superfamily_Cu_homeostasis_CutC_dom pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom - no_errors CUTC HGNC ENSG00000119929 48 0 0.00 28 2 6.67 DALRD3 0 genome.wustl.edu 37 3 49053422 49053422 + Missense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 3 49053422 49053422 G A SNP DALRD3 ENST00000341949 human ensembl 74_37 -1 known missense c.1427 p.A476V 0.013 pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC ENSG00000178149 tier1 - - 26 0 0.00 2 14 87.50 DCAF5 0 genome.wustl.edu 37 14 69522207 69522207 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 14 69522207 69522207 C T SNP DCAF5 ENST00000341516 human ensembl 74_37 -1 known missense c.1196 p.G399D 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF5 HGNC ENSG00000139990 tier1 - - 61 0 0.00 28 4 12.50 DDX24 0 genome.wustl.edu 37 14 94517537 94517537 + Nonstop_Mutation SNP T T G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 14 94517537 94517537 T G SNP DDX24 ENST00000330836 human ensembl 74_37 -1 known nonstop c.2580 p.*860Y 0.002 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX24 HGNC ENSG00000089737 97 0 0.00 60 5 7.69 DHX8 0 genome.wustl.edu 37 17 41598221 41598221 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 41598221 41598221 G T SNP DHX8 ENST00000262415 human ensembl 74_37 +1 known missense c.3040 p.V1014L 1.000 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 tier1 - - 65 0 0.00 50 5 9.09 DIAPH3 0 genome.wustl.edu 37 13 60435631 60435631 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 13 60435631 60435631 G T SNP DIAPH3 ENST00000400324 human ensembl 74_37 -1 known missense c.2647 p.L883I 0.999 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 tier1 - - 87 0 0.00 34 4 10.53 DLEC1 0 genome.wustl.edu 37 3 38164060 38164060 + Silent SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 3 38164060 38164060 C T SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known silent c.5301 p.S1767 0.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 tier1 - - 44 0 0.00 15 3 16.67 DMBT1 0 genome.wustl.edu 37 10 124352022 124352022 + Missense_Mutation SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 10 124352022 124352022 G C SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.2411 p.G804A 0.988 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 tier1 - - 169 0 0.00 165 24 12.63 DNAH14 0 genome.wustl.edu 37 1 225268267 225268267 + Missense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 225268267 225268267 G A SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known missense c.2953 p.V985M 0.099 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 - - 29 0 0.00 24 25 51.02 DNAH2 0 genome.wustl.edu 37 17 7708333 7708333 + Missense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 7708333 7708333 G A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.9241 p.A3081T 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 50 0 0.00 37 2 5.13 DNAJC25 0 genome.wustl.edu 37 9 114415453 114415453 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 9 114415453 114415453 G T SNP DNAJC25 ENST00000313525 human ensembl 74_37 +1 known missense c.1034 p.R345I 1.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,prints_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC25 HGNC ENSG00000059769 tier1 - - 82 0 0.00 56 4 6.67 DOCK2 0 genome.wustl.edu 37 5 169141380 169141380 + Missense_Mutation SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 5 169141380 169141380 G C SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.1860 p.L620F 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 73 0 0.00 67 4 5.56 DOCK4 0 genome.wustl.edu 37 7 111503550 111503550 + Missense_Mutation SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 7 111503550 111503550 G C SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.2351 p.A784G 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 tier1 - - 45 0 0.00 21 23 52.27 DOCK7 0 genome.wustl.edu 37 1 62941485 62941485 + Missense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 62941485 62941485 G A SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known missense c.5821 p.R1941C 0.970 pfam_DOCK_C pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 43 0 0.00 47 3 6.00 DOPEY2 0 genome.wustl.edu 37 21 37605164 37605164 + Missense_Mutation SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 21 37605164 37605164 A G SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.2413 p.T805A 0.213 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 tier1 - - 49 0 0.00 13 25 65.79 DOT1L 0 genome.wustl.edu 37 19 2213639 2213639 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 2213639 2213639 G T SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known missense c.1659 p.E553D 1.000 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 tier1 - - 49 0 0.00 63 4 5.97 DST 0 genome.wustl.edu 37 6 56468751 56468751 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 56468751 56468751 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.10576 p.A3526T 0.007 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 43 0 0.00 66 4 5.63 DST 0 genome.wustl.edu 37 6 56492824 56492824 + Silent SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 56492824 56492824 G T SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.4512 p.T1504 0.232 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 77 0 0.00 62 4 6.06 DUSP10 0 genome.wustl.edu 37 1 221875661 221875662 + RNA INS - - A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 221875661 221875662 - A INS DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.040 - - - no_errors DUSP10 HGNC ENSG00000143507 tier1 12 0 0.00 26 3 10.34 DYNC2H1 0 genome.wustl.edu 37 11 103027455 103027455 + Silent SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 103027455 103027455 G A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known silent c.4083 p.L1361 0.999 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 40 0 0.00 14 3 17.65 EDC4 0 genome.wustl.edu 37 16 67910487 67910487 + Silent SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 16 67910487 67910487 C G SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known silent c.336 p.A112 0.825 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 31 0 0.00 16 3 15.79 EFTUD1P1 0 genome.wustl.edu 37 15 84759002 84759002 + RNA SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 15 84759002 84759002 G T SNP EFTUD1P1 ENST00000558187 human ensembl 74_37 +1 known rna NULL NULL 0.987 - - - no_errors EFTUD1P1 HGNC ENSG00000259404 tier1 - - 65 0 0.00 46 19 28.79 EFTUD1P1 0 genome.wustl.edu 37 15 84759003 84759003 + RNA SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 15 84759003 84759003 A G SNP EFTUD1P1 ENST00000558187 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors EFTUD1P1 HGNC ENSG00000259404 tier1 - - 65 0 0.00 46 22 32.35 EHMT1 0 genome.wustl.edu 37 9 140638394 140638394 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 9 140638394 140638394 G T SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.1022 p.G341V 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 tier1 - - 62 0 0.00 36 5 12.20 EIF4G2 0 genome.wustl.edu 37 11 10830442 10830442 + RNA SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 10830442 10830442 C A SNP EIF4G2 ENST00000525972 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors EIF4G2 HGNC ENSG00000110321 tier1 - - 185 0 0.00 82 33 28.70 ELF3 0 genome.wustl.edu 37 1 201981984 201981984 + Splice_Site SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 201981984 201981984 G T SNP ELF3 ENST00000479874 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.006 - - - no_errors ELF3 HGNC ENSG00000163435 tier1 - - 55 0 0.00 40 4 9.09 ELFN2 0 genome.wustl.edu 37 22 37770857 37770857 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 22 37770857 37770857 C T SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.718 p.V240I 1.000 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 tier1 - - 136 0 0.00 71 59 45.04 ELN 0 genome.wustl.edu 37 7 73456951 73456951 + Silent SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 7 73456951 73456951 C G SNP ELN ENST00000358929 human ensembl 74_37 +1 known silent c.240 p.G80 0.000 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 tier1 - - 69 0 0.00 56 44 44.00 EMILIN2 0 genome.wustl.edu 37 18 2891505 2891505 + Silent SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 18 2891505 2891505 G T SNP EMILIN2 ENST00000254528 human ensembl 74_37 +1 known silent c.1380 p.T460 0.555 NULL pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 30 0 0.00 36 2 5.26 ENOX1 0 genome.wustl.edu 37 13 43986988 43986988 + Missense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 13 43986988 43986988 C G SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known missense c.63 p.M21I 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 tier1 - - 74 0 0.00 34 11 24.44 ENPP1 0 genome.wustl.edu 37 6 132172330 132172330 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 132172330 132172330 C A SNP ENPP1 ENST00000360971 human ensembl 74_37 +1 known missense c.479 p.T160N 0.001 pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom 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 - - 62 0 0.00 52 21 28.77 ENSG00000197813 0 genome.wustl.edu 37 19 49843497 49843497 + RNA SNP T T A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 49843497 49843497 T A SNP ENSG00000197813 ENST00000358234 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTC-301O7.4 Clone_based_vega_gene ENSG00000197813 tier1 - - 47 0 0.00 34 4 10.53 ENSG00000205018 0 genome.wustl.edu 37 16 89017062 89017062 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 16 89017062 89017062 C T SNP ENSG00000205018 ENST00000378347 human ensembl 74_37 +1 putative missense c.536 p.S179F 0.234 NULL NULL - no_errors RP11-830F9.6 Clone_based_vega_gene ENSG00000205018 tier1 - - 123 0 0.00 101 13 11.40 ENSG00000205215 0 genome.wustl.edu 37 17 20424189 20424189 + RNA SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 20424189 20424189 T C SNP ENSG00000205215 ENST00000582261 human ensembl 74_37 -1 known rna NULL NULL 0.990 - - - no_errors AC015818.3 Clone_based_vega_gene ENSG00000205215 tier1 - - 39 0 0.00 4 6 60.00 ENSG00000225555 0 genome.wustl.edu 37 21 35743430 35743430 + RNA SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 21 35743430 35743430 C A SNP ENSG00000225555 ENST00000440403 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors AP000320.6 Clone_based_vega_gene ENSG00000225555 tier1 - - 49 0 0.00 19 12 38.71 ENSG00000256518 0 genome.wustl.edu 37 11 71870787 71870787 + RNA DEL C C - TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 71870787 71870787 C - DEL ENSG00000256518 ENST00000542477 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-807H22.5 Clone_based_vega_gene ENSG00000256518 tier1 20 0 0.00 31 8 20.51 ENSG00000265216 0 genome.wustl.edu 37 1 227833026 227833026 + RNA SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 227833026 227833026 G T SNP ENSG00000265216 ENST00000580546 human ensembl 74_37 +1 novel rna NULL NULL 0.011 - - - no_errors AL592310.1 Clone_based_ensembl_gene ENSG00000265216 tier1 - - 77 0 0.00 53 43 44.79 ERVMER61-1 0 genome.wustl.edu 37 1 187611070 187611070 + RNA SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 187611070 187611070 C A SNP ERVMER61-1 ENST00000429725 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors ERVMER61-1 HGNC ENSG00000230426 tier1 - - 34 0 0.00 23 6 20.69 F2RL3 0 genome.wustl.edu 37 19 17000455 17000455 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 17000455 17000455 C A SNP F2RL3 ENST00000248076 human ensembl 74_37 +1 known missense c.181 p.L61M 0.009 prints_Prot_act_rcpt_4 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_4,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2RL3 HGNC ENSG00000127533 14 0 0.00 36 4 10.00 FAM110B 0 genome.wustl.edu 37 8 59059063 59059063 + Missense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 8 59059063 59059063 G A SNP FAM110B ENST00000361488 human ensembl 74_37 +1 known missense c.274 p.A92T 0.991 NULL NULL - no_errors FAM110B HGNC ENSG00000169122 77 0 0.00 33 2 5.71 FAM186A 0 genome.wustl.edu 37 12 50749945 50749945 + Missense_Mutation SNP T T A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 12 50749945 50749945 T A SNP FAM186A ENST00000327337 human ensembl 74_37 -1 known missense c.670 p.I224F 0.974 NULL NULL - no_errors FAM186A HGNC ENSG00000185958 tier1 - - 64 0 0.00 62 15 19.48 FAM20B 0 genome.wustl.edu 37 1 179013235 179013235 + Missense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 179013235 179013235 G A SNP FAM20B ENST00000263733 human ensembl 74_37 +1 known missense c.253 p.G85R 1.000 NULL pfam_DUF1193 - no_errors FAM20B HGNC ENSG00000116199 tier1 - - 44 0 0.00 24 13 35.14 FAM74A3 0 genome.wustl.edu 37 9 40715957 40715957 + RNA SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 9 40715957 40715957 A G SNP FAM74A3 ENST00000355345 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors FAM74A3 HGNC ENSG00000204844 tier1 - - 590 0 0.00 306 57 15.70 FAM86DP 0 genome.wustl.edu 37 3 75471863 75471863 + RNA SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 3 75471863 75471863 A G SNP FAM86DP ENST00000459803 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FAM86DP HGNC ENSG00000244026 tier1 - - 31 0 0.00 4 14 77.78 FBXW5 0 genome.wustl.edu 37 9 139837095 139837095 + Silent SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 9 139837095 139837095 G T SNP FBXW5 ENST00000325285 human ensembl 74_37 -1 known silent c.579 p.G193 1.000 superfamily_Quinoprot_gluc/sorb_DH pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW5 HGNC ENSG00000159069 tier1 - - 39 0 0.00 79 5 5.95 FCN3 0 genome.wustl.edu 37 1 27697395 27697395 + Frame_Shift_Del DEL A A - TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 27697395 27697395 A - DEL FCN3 ENST00000270879 human ensembl 74_37 -1 known frame_shift_del c.462 p.F154fs 0.996 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN3 HGNC ENSG00000142748 tier1 35 0 0.00 19 2 9.52 FCRL5 0 genome.wustl.edu 37 1 157512730 157512730 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 157512730 157512730 C T SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known missense c.1042 p.E348K 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 tier1 - - 42 0 0.00 33 8 19.51 FIG4 0 genome.wustl.edu 37 6 110083318 110083318 + Silent SNP A A C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 110083318 110083318 A C SNP FIG4 ENST00000230124 human ensembl 74_37 +1 known silent c.1296 p.R432 0.884 pfscan_Syja_N pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 tier1 - - 63 0 0.00 118 20 14.49 FLNC 0 genome.wustl.edu 37 7 128491632 128491632 + Missense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 7 128491632 128491632 G A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.5792 p.R1931H 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 41 0 0.00 37 3 7.50 FOXA3 0 genome.wustl.edu 37 19 46376187 46376187 + Missense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 46376187 46376187 C G SNP FOXA3 ENST00000302177 human ensembl 74_37 +1 known missense c.924 p.N308K 1.000 pfam_Forkhead_box_C pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA3 HGNC ENSG00000170608 tier1 - - 100 0 0.00 50 10 16.67 FOXP1 0 genome.wustl.edu 37 3 71019898 71019898 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 3 71019898 71019898 C T SNP FOXP1 ENST00000318789 human ensembl 74_37 -1 known missense c.1711 p.A571T 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 60 0 0.00 30 2 6.25 FTH1 0 genome.wustl.edu 37 11 61732489 61732489 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 61732489 61732489 G T SNP FTH1 ENST00000273550 human ensembl 74_37 -1 known missense c.357 p.H119Q 1.000 pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTH1 HGNC ENSG00000167996 53 0 0.00 76 4 5.00 FXR2 0 genome.wustl.edu 37 17 7507177 7507177 + Missense_Mutation SNP A A C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 7507177 7507177 A C SNP FXR2 ENST00000250113 human ensembl 74_37 -1 known missense c.347 p.I116S 1.000 pfam_Agenet-like_dom pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR2 HGNC ENSG00000129245 113 0 0.00 56 3 5.08 GABRG1 0 genome.wustl.edu 37 4 46086016 46086016 + Missense_Mutation SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 4 46086016 46086016 T C SNP GABRG1 ENST00000295452 human ensembl 74_37 -1 known missense c.308 p.D103G 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 tier1 - - 68 0 0.00 24 13 35.14 GADD45GIP1 0 genome.wustl.edu 37 19 13065136 13065136 + Silent SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 13065136 13065136 C T SNP GADD45GIP1 ENST00000316939 human ensembl 74_37 -1 known silent c.555 p.K185 1.000 pfam_Damage-induce-interacting_prot pfam_Damage-induce-interacting_prot - no_errors GADD45GIP1 HGNC ENSG00000179271 tier1 - - 23 0 0.00 40 23 36.51 GALNT3 0 genome.wustl.edu 37 2 166615871 166615871 + Missense_Mutation SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 166615871 166615871 T C SNP GALNT3 ENST00000392701 human ensembl 74_37 -1 known missense c.1048 p.R350G 0.994 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT3 HGNC ENSG00000115339 tier1 - - 38 0 0.00 33 16 32.65 GBP7 0 genome.wustl.edu 37 1 89617967 89617967 + Silent SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 89617967 89617967 G T SNP GBP7 ENST00000294671 human ensembl 74_37 -1 known silent c.609 p.A203 1.000 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP7 HGNC ENSG00000213512 tier1 - - 42 0 0.00 44 4 8.33 GC 0 genome.wustl.edu 37 4 72669648 72669648 + Missense_Mutation SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 4 72669648 72669648 T C SNP GC ENST00000504199 human ensembl 74_37 -1 putative missense c.16 p.S6G 0.004 NULL pfam_Serum_albumin_N,pfam_VitD-bind_III,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_VitD-bd,prints_ALB/AFP/VDB - no_errors GC HGNC ENSG00000145321 tier1 - - 60 0 0.00 26 12 31.58 GDF3 0 genome.wustl.edu 37 12 7842479 7842479 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 12 7842479 7842479 C A SNP GDF3 ENST00000329913 human ensembl 74_37 -1 known missense c.1090 p.G364W 1.000 smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF3 HGNC ENSG00000184344 tier1 - - 48 0 0.00 5 28 84.85 GIMAP6 0 genome.wustl.edu 37 7 150325470 150325470 + Silent SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 7 150325470 150325470 G T SNP GIMAP6 ENST00000328902 human ensembl 74_37 -1 known silent c.216 p.T72 0.000 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP6 HGNC ENSG00000133561 tier1 - - 56 0 0.00 40 4 9.09 GLYATL2 0 genome.wustl.edu 37 11 58607019 58607019 + Nonsense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 58607019 58607019 C A SNP GLYATL2 ENST00000287275 human ensembl 74_37 -1 known nonsense c.67 p.E23* 0.537 pfam_Glycine_N-acyltransferase_N pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL2 HGNC ENSG00000156689 tier1 - - 43 0 0.00 57 10 14.93 GNA13 0 genome.wustl.edu 37 17 63010777 63010777 + Silent SNP A A T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 63010777 63010777 A T SNP GNA13 ENST00000439174 human ensembl 74_37 -1 known silent c.732 p.L244 0.936 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12 - no_errors GNA13 HGNC ENSG00000120063 tier1 - - 121 0 0.00 77 42 35.29 GNAI3 0 genome.wustl.edu 37 1 110134705 110134705 + Silent SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 110134705 110134705 C T SNP GNAI3 ENST00000369851 human ensembl 74_37 +1 known silent c.915 p.C305 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha - no_errors GNAI3 HGNC ENSG00000065135 73 0 0.00 64 4 5.88 GNL2 0 genome.wustl.edu 37 1 38040040 38040040 + Silent SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 38040040 38040040 C T SNP GNL2 ENST00000373062 human ensembl 74_37 -1 known silent c.1320 p.L440 0.985 superfamily_P-loop_NTPase pfam_NOG2_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL2 HGNC ENSG00000134697 tier1 - - 98 0 0.00 60 5 7.69 GPX8 0 genome.wustl.edu 37 5 54460112 54460113 + RNA INS - - TT TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 5 54460112 54460113 - TT INS GPX8 ENST00000506123 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors GPX8 HGNC ENSG00000164294 tier1 28 0 0.00 15 2 11.76 GRM4 0 genome.wustl.edu 37 6 33990592 33990592 + RNA SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 33990592 33990592 G T SNP GRM4 ENST00000545715 human ensembl 74_37 -1 known rna NULL NULL 0.649 - - - no_errors GRM4 HGNC ENSG00000124493 tier1 - - 66 0 0.00 17 40 70.18 GRSF1 0 genome.wustl.edu 37 4 71691058 71691058 + Missense_Mutation SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 4 71691058 71691058 G C SNP GRSF1 ENST00000254799 human ensembl 74_37 -1 known missense c.1348 p.H450D 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors GRSF1 HGNC ENSG00000132463 45 0 0.00 30 2 6.25 GSG2 0 genome.wustl.edu 37 17 3629174 3629174 + Missense_Mutation SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 3629174 3629174 G C SNP GSG2 ENST00000325418 human ensembl 74_37 +1 known missense c.1945 p.D649H 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_DUF3635,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors GSG2 HGNC ENSG00000177602 tier1 - - 31 0 0.00 2 5 71.43 GUSB 0 genome.wustl.edu 37 7 65444472 65444472 + Missense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 7 65444472 65444472 C G SNP GUSB ENST00000304895 human ensembl 74_37 -1 known missense c.638 p.G213A 1.000 pfam_Glyco_hydro_2_N,superfamily_Galactose-bd-like pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 tier1 - - 74 0 0.00 80 15 15.62 HEATR3 0 genome.wustl.edu 37 16 50104153 50104153 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 16 50104153 50104153 C A SNP HEATR3 ENST00000299192 human ensembl 74_37 +1 known missense c.464 p.S155Y 0.243 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR3 HGNC ENSG00000155393 53 0 0.00 57 3 5.00 HECA 0 genome.wustl.edu 37 6 139498225 139498225 + Missense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 139498225 139498225 G A SNP HECA ENST00000367658 human ensembl 74_37 +1 known missense c.1615 p.V539I 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 tier1 - - 61 0 0.00 48 52 52.00 HECTD4 0 genome.wustl.edu 37 12 112622969 112622969 + Silent SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 12 112622969 112622969 C T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known silent c.9285 p.V3095 0.994 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 48 0 0.00 51 14 21.21 HELZ2 0 genome.wustl.edu 37 20 62194076 62194076 + Silent SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 20 62194076 62194076 C T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known silent c.6099 p.L2033 0.026 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 tier1 - - 74 0 0.00 67 33 33.00 HIPK1 0 genome.wustl.edu 37 1 114483016 114483016 + Missense_Mutation SNP A A T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 114483016 114483016 A T SNP HIPK1 ENST00000369558 human ensembl 74_37 +1 known missense c.11 p.Q4L 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK1 HGNC ENSG00000163349 tier1 - - 51 0 0.00 34 15 30.61 HIRIP3 0 genome.wustl.edu 37 16 30006911 30006911 + Nonsense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 16 30006911 30006911 C A SNP HIRIP3 ENST00000279392 human ensembl 74_37 -1 known nonsense c.16 p.E6* 0.993 NULL pfam_Histone_chaperone_domain_CHZ - no_errors HIRIP3 HGNC ENSG00000149929 91 0 0.00 69 4 5.48 HIST1H3G 0 genome.wustl.edu 37 6 26271605 26271605 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 26271605 26271605 C T SNP HIST1H3G ENST00000305910 human ensembl 74_37 -1 known missense c.8 p.R3H 0.923 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3G HGNC ENSG00000256018 55 0 0.00 58 4 6.45 HLA-DQA2 0 genome.wustl.edu 37 6 32713585 32713585 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 32713585 32713585 G T SNP HLA-DQA2 ENST00000374940 human ensembl 74_37 +1 known missense c.349 p.V117L 0.992 pfscan_Ig-like_dom pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DQA2 HGNC ENSG00000237541 tier1 - - 70 0 0.00 74 5 6.33 HLA-F 0 genome.wustl.edu 37 6 29693994 29693994 + RNA SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 29693994 29693994 G T SNP HLA-F ENST00000484704 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors HLA-F HGNC ENSG00000204642 tier1 - - 61 0 0.00 33 4 10.81 HMCN1 0 genome.wustl.edu 37 1 186151375 186151375 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 186151375 186151375 G T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.16370 p.C5457F 1.000 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 29 0 0.00 36 2 5.26 HMGCS2 0 genome.wustl.edu 37 1 120298175 120298175 + Missense_Mutation SNP T T G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 120298175 120298175 T G SNP HMGCS2 ENST00000369406 human ensembl 74_37 -1 known missense c.1062 p.K354N 0.994 pfam_HMG_CoA_synt_C,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk - no_errors HMGCS2 HGNC ENSG00000134240 tier1 - - 75 0 0.00 58 14 19.44 HMGN2 0 genome.wustl.edu 37 1 26801464 26801464 + RNA SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 26801464 26801464 G C SNP HMGN2 ENST00000493418 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors HMGN2 HGNC ENSG00000198830 tier1 - - 11 0 0.00 10 8 44.44 HOXB3 0 genome.wustl.edu 37 17 46627744 46627744 + Silent SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 46627744 46627744 A G SNP HOXB3 ENST00000311626 human ensembl 74_37 -1 known silent c.1248 p.P416 0.822 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 tier1 - - 29 0 0.00 50 10 16.67 HSF5 0 genome.wustl.edu 37 17 56544249 56544249 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 56544249 56544249 G T SNP HSF5 ENST00000323777 human ensembl 74_37 -1 known missense c.1017 p.F339L 1.000 NULL pfam_HSF_DNA-bd,smart_HSF_DNA-bd - no_errors HSF5 HGNC ENSG00000176160 tier1 - - 66 0 0.00 30 22 42.31 HYAL4 0 genome.wustl.edu 37 7 123516966 123516966 + Silent SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 7 123516966 123516966 C T SNP HYAL4 ENST00000223026 human ensembl 74_37 +1 known silent c.1203 p.N401 0.911 pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL4 HGNC ENSG00000106302 117 0 0.00 76 5 6.17 IBSP 0 genome.wustl.edu 37 4 88723869 88723869 + Missense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 4 88723869 88723869 C G SNP IBSP ENST00000226284 human ensembl 74_37 +1 known missense c.169 p.R57G 1.000 pfam_BSP_II pfam_BSP_II - no_errors IBSP HGNC ENSG00000029559 tier1 - - 49 0 0.00 41 8 16.33 IDI1 0 genome.wustl.edu 37 10 1088605 1088605 + Silent SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 10 1088605 1088605 C T SNP IDI1 ENST00000381344 human ensembl 74_37 -1 known silent c.504 p.R168 0.635 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 - no_errors IDI1 HGNC ENSG00000067064 68 0 0.00 75 4 5.06 IGDCC4 0 genome.wustl.edu 37 15 65689261 65689261 + Missense_Mutation SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 15 65689261 65689261 T C SNP IGDCC4 ENST00000352385 human ensembl 74_37 -1 novel missense c.908 p.Q303R 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC4 HGNC ENSG00000103742 tier1 - - 63 0 0.00 57 47 45.19 IGFL3 0 genome.wustl.edu 37 19 46627546 46627546 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 46627546 46627546 G T SNP IGFL3 ENST00000341415 human ensembl 74_37 -1 known missense c.58 p.Q20K 0.001 NULL NULL - no_errors IGFL3 HGNC ENSG00000188624 tier1 - - 67 0 0.00 63 4 5.97 IGFN1 0 genome.wustl.edu 37 1 201163373 201163373 + Silent SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 201163373 201163373 G A SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known silent c.99 p.Q33 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 tier1 - - 56 0 0.00 34 4 10.53 IL27 0 genome.wustl.edu 37 16 28511194 28511194 + Silent SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 16 28511194 28511194 C T SNP IL27 ENST00000356897 human ensembl 74_37 -1 known silent c.510 p.E170 0.003 superfamily_4_helix_cytokine-like_core superfamily_4_helix_cytokine-like_core - no_errors IL27 HGNC ENSG00000197272 32 0 0.00 18 3 14.29 IL27 0 genome.wustl.edu 37 16 28511197 28511197 + Silent SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 16 28511197 28511197 T C SNP IL27 ENST00000356897 human ensembl 74_37 -1 known silent c.507 p.E169 0.052 superfamily_4_helix_cytokine-like_core superfamily_4_helix_cytokine-like_core - no_errors IL27 HGNC ENSG00000197272 31 0 0.00 16 3 15.79 INHBE 0 genome.wustl.edu 37 12 57850342 57850342 + Missense_Mutation SNP A A T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 12 57850342 57850342 A T SNP INHBE ENST00000266646 human ensembl 74_37 +1 known missense c.764 p.D255V 1.000 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu - no_errors INHBE HGNC ENSG00000139269 tier1 - - 64 0 0.00 9 68 88.31 INPP5A 0 genome.wustl.edu 37 10 134563044 134563044 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 10 134563044 134563044 G T SNP INPP5A ENST00000368594 human ensembl 74_37 +1 known missense c.756 p.M252I 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5A HGNC ENSG00000068383 tier1 - - 53 0 0.00 43 4 8.51 ITGA8 0 genome.wustl.edu 37 10 15719594 15719594 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 10 15719594 15719594 G T SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known missense c.673 p.Q225K 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 tier1 - - 113 0 0.00 48 22 31.43 ITGAD 0 genome.wustl.edu 37 16 31424553 31424553 + Nonsense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 16 31424553 31424553 C G SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known nonsense c.1982 p.S661* 0.006 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 tier1 - - 38 0 0.00 21 10 32.26 KANK1 0 genome.wustl.edu 37 9 712040 712040 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 9 712040 712040 C T SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known missense c.1274 p.A425V 0.436 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 tier1 - - 51 0 0.00 32 4 11.11 KARS 0 genome.wustl.edu 37 16 75669947 75669947 + Missense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 16 75669947 75669947 G A SNP KARS ENST00000319410 human ensembl 74_37 -1 known missense c.616 p.R206W 0.987 pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Lys-tRNA-ligase_II pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Lys-tRNA-synth_II_C,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Lys-tRNA-ligase_II - no_errors KARS HGNC ENSG00000065427 49 0 0.00 51 3 5.56 KCNIP2 0 genome.wustl.edu 37 10 103587412 103587412 + Missense_Mutation SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 10 103587412 103587412 A G SNP KCNIP2 ENST00000239117 human ensembl 74_37 -1 known missense c.541 p.W181R 0.060 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP2 HGNC ENSG00000120049 tier1 - - 60 0 0.00 38 4 9.52 KCNK2 0 genome.wustl.edu 37 1 215259722 215259722 + Missense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 215259722 215259722 G A SNP KCNK2 ENST00000444842 human ensembl 74_37 +1 known missense c.58 p.D20N 1.000 prints_2pore_dom_K_chnl_TREK pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC ENSG00000082482 tier1 - - 71 0 0.00 87 18 17.14 KIAA0226L 0 genome.wustl.edu 37 13 46924315 46924315 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 13 46924315 46924315 G T SNP KIAA0226L ENST00000389908 human ensembl 74_37 -1 known missense c.1502 p.P501H 1.000 NULL NULL - no_errors KIAA0226L HGNC ENSG00000102445 tier1 - - 61 0 0.00 33 5 13.16 KIAA0753 0 genome.wustl.edu 37 17 6531694 6531694 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 6531694 6531694 G T SNP KIAA0753 ENST00000361413 human ensembl 74_37 -1 known missense c.461 p.A154D 0.000 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 tier1 - - 55 0 0.00 44 4 8.33 KIAA1211 0 genome.wustl.edu 37 4 57138578 57138578 + RNA SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 4 57138578 57138578 G T SNP KIAA1211 ENST00000503618 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors KIAA1211 HGNC ENSG00000109265 tier1 - - 65 0 0.00 56 6 9.68 KIAA1467 0 genome.wustl.edu 37 12 13211471 13211471 + Missense_Mutation SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 12 13211471 13211471 G C SNP KIAA1467 ENST00000197268 human ensembl 74_37 +1 known missense c.520 p.G174R 0.851 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam - no_errors KIAA1467 HGNC ENSG00000084444 tier1 - - 81 0 0.00 83 19 18.63 KIAA2022 0 genome.wustl.edu 37 X 73962184 73962184 + Silent SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 X 73962184 73962184 A G SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known silent c.2208 p.A736 0.977 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 tier1 - - 61 0 0.00 18 20 52.63 KIF7 0 genome.wustl.edu 37 15 90195944 90195944 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 15 90195944 90195944 G T SNP KIF7 ENST00000394412 human ensembl 74_37 -1 known missense c.218 p.A73D 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 46 0 0.00 36 2 5.26 KIRREL3 0 genome.wustl.edu 37 11 126294541 126294541 + Silent SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 126294541 126294541 G T SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known silent c.2271 p.S757 0.990 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 tier1 - - 53 0 0.00 24 13 35.14 KMO 0 genome.wustl.edu 37 1 241725447 241725447 + RNA SNP T T A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 241725447 241725447 T A SNP KMO ENST00000431245 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors KMO HGNC ENSG00000117009 tier1 - - 40 0 0.00 69 8 10.39 KRCC1 0 genome.wustl.edu 37 2 88327433 88327433 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 88327433 88327433 C T SNP KRCC1 ENST00000347055 human ensembl 74_37 -1 known missense c.650 p.R217Q 0.837 NULL NULL - no_errors KRCC1 HGNC ENSG00000172086 25 0 0.00 30 2 6.25 KRT12 0 genome.wustl.edu 37 17 39023236 39023236 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 39023236 39023236 C T SNP KRT12 ENST00000251643 human ensembl 74_37 -1 known missense c.203 p.G68D 0.999 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT12 HGNC ENSG00000187242 tier1 - - 72 0 0.00 41 16 28.07 LAMB1 0 genome.wustl.edu 37 7 107600921 107600921 + Missense_Mutation SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 7 107600921 107600921 G C SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known missense c.2283 p.S761R 1.000 pfscan_Laminin_IV pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 tier1 - - 44 0 0.00 53 5 8.62 LEKR1 0 genome.wustl.edu 37 3 156746172 156746172 + Missense_Mutation SNP T T A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 3 156746172 156746172 T A SNP LEKR1 ENST00000356539 human ensembl 74_37 +1 known missense c.1649 p.F550Y 0.013 NULL superfamily_Ribosomal_L29 - no_errors LEKR1 HGNC ENSG00000197980 tier1 - - 44 0 0.00 18 7 28.00 LIN7C 0 genome.wustl.edu 37 11 27523450 27523450 + Missense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 27523450 27523450 C G SNP LIN7C ENST00000278193 human ensembl 74_37 -1 known missense c.55 p.E19Q 1.000 pfam_L27_C,smart_L27,pirsf_Lin-7_homologue,pfscan_L27 pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7C HGNC ENSG00000148943 tier1 - - 76 0 0.00 114 9 7.32 LINC00221 0 genome.wustl.edu 37 14 106950237 106950237 + RNA SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 14 106950237 106950237 C T SNP LINC00221 ENST00000334298 human ensembl 74_37 +1 known rna NULL NULL 0.283 - - - no_errors LINC00221 HGNC ENSG00000187156 tier1 - - 58 0 0.00 56 11 16.42 LIPM 0 genome.wustl.edu 37 10 90574373 90574373 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 10 90574373 90574373 G T SNP LIPM ENST00000404743 human ensembl 74_37 +1 known missense c.551 p.G184V 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPM HGNC ENSG00000173239 tier1 - - 75 0 0.00 80 5 5.88 LMAN1L 0 genome.wustl.edu 37 15 75116811 75116811 + Silent SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 15 75116811 75116811 G A SNP LMAN1L ENST00000309664 human ensembl 74_37 +1 known silent c.1443 p.V481 0.076 NULL pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN1L HGNC ENSG00000140506 50 0 0.00 44 5 10.20 LOC100127967 0 genome.wustl.edu 37 12 53004924 53004925 + RNA INS - - G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 12 53004924 53004925 - G INS LOC100127967 ENST00000552364 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors RP11-641A6.2 Clone_based_vega_gene ENSG00000257495 tier1 35 0 0.00 23 2 8.00 LOC100133301 0 genome.wustl.edu 37 1 16865771 16865771 + Frame_Shift_Del DEL T T - TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 16865771 16865771 T - DEL LOC100133301 ENST00000601199 human ensembl 74_37 +1 known frame_shift_del c.211 p.W72fs 0.035 NULL NULL - no_errors AL355149.2 Clone_based_ensembl_gene ENSG00000268674 tier1 31 0 0.00 23 2 8.00 LOC202181 0 genome.wustl.edu 37 5 177099159 177099159 + RNA SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 5 177099159 177099159 G C SNP LOC202181 ENST00000515045 human ensembl 74_37 -1 known rna NULL NULL 0.778 - - - no_errors RP11-1277A3.2 Clone_based_vega_gene ENSG00000246596 30 0 0.00 36 4 10.00 LOC202181 0 genome.wustl.edu 37 5 177099160 177099160 + RNA SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 5 177099160 177099160 C A SNP LOC202181 ENST00000515045 human ensembl 74_37 -1 known rna NULL NULL 0.682 - - - no_errors RP11-1277A3.2 Clone_based_vega_gene ENSG00000246596 30 0 0.00 36 4 10.00 LONRF1 0 genome.wustl.edu 37 8 12592793 12592793 + Splice_Site SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 8 12592793 12592793 A G SNP LONRF1 ENST00000398246 human ensembl 74_37 -1 known splice_site c.1566+2 e7+2 1.000 - - - no_errors LONRF1 HGNC ENSG00000154359 tier1 - - 102 0 0.00 29 15 34.09 LPO 0 genome.wustl.edu 37 17 56324982 56324982 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 56324982 56324982 C T SNP LPO ENST00000262290 human ensembl 74_37 +1 known missense c.308 p.S103F 0.006 NULL pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 60 0 0.00 36 3 7.69 LRBA 0 genome.wustl.edu 37 4 151682999 151682999 + Missense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 4 151682999 151682999 C G SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.5581 p.E1861Q 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 - no_errors LRBA HGNC ENSG00000198589 tier1 - - 85 0 0.00 20 55 72.37 LRFN5 0 genome.wustl.edu 37 14 42360949 42360949 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 14 42360949 42360949 G T SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.1882 p.A628S 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 61 0 0.00 55 3 5.17 LRP1B 0 genome.wustl.edu 37 2 141232707 141232707 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 141232707 141232707 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.9625 p.V3209I 1.000 superfamily_Growth_fac_rcpt_N_dom,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 31 0 0.00 17 2 10.53 LRP4 0 genome.wustl.edu 37 11 46911003 46911003 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 46911003 46911003 G T SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known missense c.2174 p.P725H 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_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_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 43 0 0.00 64 4 5.88 LRRC1 0 genome.wustl.edu 37 6 53761325 53761325 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 53761325 53761325 G T SNP LRRC1 ENST00000370888 human ensembl 74_37 +1 known missense c.476 p.R159I 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC ENSG00000137269 65 0 0.00 45 4 8.16 LRRC7 0 genome.wustl.edu 37 1 70397207 70397207 + Missense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 70397207 70397207 C G SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.551 p.A184G 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 tier1 - - 76 0 0.00 68 18 20.93 LRRTM3 0 genome.wustl.edu 37 10 68687865 68687865 + Silent SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 10 68687865 68687865 G A SNP LRRTM3 ENST00000361320 human ensembl 74_37 +1 known silent c.1191 p.P397 0.997 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 tier1 - - 38 0 0.00 26 6 18.75 LSM2 0 genome.wustl.edu 37 6 31774389 31774389 + RNA SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 31774389 31774389 A G SNP LSM2 ENST00000491421 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LSM2 HGNC ENSG00000204392 tier1 - - 62 0 0.00 10 25 71.43 MACROD1 0 genome.wustl.edu 37 11 63918714 63918714 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 63918714 63918714 C T SNP MACROD1 ENST00000255681 human ensembl 74_37 -1 known missense c.514 p.A172T 0.997 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom - no_errors MACROD1 HGNC ENSG00000133315 27 0 0.00 28 4 12.50 MAGI2 0 genome.wustl.edu 37 7 77649090 77649090 + Missense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 7 77649090 77649090 C G SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.3910 p.G1304R 1.000 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 14 0 0.00 16 6 27.27 MAML3 0 genome.wustl.edu 37 4 140651587 140651587 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 4 140651587 140651587 G T SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known missense c.2314 p.Q772K 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 10 0 0.00 14 6 30.00 MAP3K1 0 genome.wustl.edu 37 5 56179413 56179413 + Silent SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 5 56179413 56179413 A G SNP MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel silent c.3726 p.E1242 0.952 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 tier1 - - 118 0 0.00 32 30 48.39 MAP3K1 0 genome.wustl.edu 37 5 56161771 56161771 + Nonsense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 5 56161771 56161771 C A SNP MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel nonsense c.1268 p.S423* 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 51 0 0.00 38 2 5.00 MED13 0 genome.wustl.edu 37 17 60059673 60059673 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 60059673 60059673 C T SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.3691 p.D1231N 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 tier1 - - 59 0 0.00 68 14 17.07 MED24 0 genome.wustl.edu 37 17 38178915 38178915 + Silent SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 38178915 38178915 C T SNP MED24 ENST00000394128 human ensembl 74_37 -1 known silent c.2415 p.P805 0.012 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 tier1 - - 23 0 0.00 23 9 28.12 MERTK 0 genome.wustl.edu 37 2 112786035 112786035 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 112786035 112786035 G T SNP MERTK ENST00000295408 human ensembl 74_37 +1 known missense c.2594 p.R865L 0.000 superfamily_Kinase-like_dom,superfamily_Rhodanese-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC ENSG00000153208 69 0 0.00 37 3 7.50 MFSD7 0 genome.wustl.edu 37 4 677526 677526 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 4 677526 677526 G T SNP MFSD7 ENST00000404286 human ensembl 74_37 -1 known missense c.868 p.L290I 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD7 HGNC ENSG00000169026 tier1 - - 114 0 0.00 49 4 7.55 MIEF1 0 genome.wustl.edu 37 22 39909952 39909952 + Missense_Mutation SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 22 39909952 39909952 T C SNP MIEF1 ENST00000325301 human ensembl 74_37 +1 known missense c.1016 p.L339P 1.000 NULL NULL - no_errors MIEF1 HGNC ENSG00000100335 tier1 - - 64 0 0.00 33 14 29.79 MIER2 0 genome.wustl.edu 37 19 307381 307381 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 307381 307381 G T SNP MIER2 ENST00000264819 human ensembl 74_37 -1 known missense c.1354 p.P452T 0.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER2 HGNC ENSG00000105556 60 0 0.00 64 4 5.88 MIR221 0 genome.wustl.edu 37 X 45605608 45605608 + RNA SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 X 45605608 45605608 G C SNP MIR221 ENST00000385135 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR221 HGNC ENSG00000207870 tier1 - - 35 0 0.00 30 9 23.08 MIR3145 0 genome.wustl.edu 37 6 138756407 138756407 + RNA SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 138756407 138756407 G C SNP MIR3145 ENST00000580727 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3145 HGNC ENSG00000266555 tier1 - - 65 0 0.00 74 12 13.95 MIR3908 0 genome.wustl.edu 37 12 124021053 124021053 + RNA SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 12 124021053 124021053 G T SNP MIR3908 ENST00000579798 human ensembl 74_37 +1 known rna NULL NULL 0.107 - - - no_errors MIR3908 HGNC ENSG00000266655 tier1 - - 42 0 0.00 33 6 15.38 MIR410 0 genome.wustl.edu 37 14 101532274 101532274 + RNA SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 14 101532274 101532274 A G SNP MIR410 ENST00000362222 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR410 HGNC ENSG00000199092 tier1 - - 58 0 0.00 41 8 16.33 MLH1 0 genome.wustl.edu 37 3 37042452 37042452 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 3 37042452 37042452 G T SNP MLH1 ENST00000231790 human ensembl 74_37 +1 known missense c.214 p.D72Y 1.000 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N - no_errors MLH1 HGNC ENSG00000076242 86 0 0.00 36 2 5.26 MMRN2 0 genome.wustl.edu 37 10 88703785 88703785 + Silent SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 10 88703785 88703785 C T SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known silent c.756 p.L252 0.999 NULL pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 tier1 - - 52 0 0.00 28 3 9.68 MOSPD2 0 genome.wustl.edu 37 X 14891657 14891657 + Nonsense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 X 14891657 14891657 G T SNP MOSPD2 ENST00000380492 human ensembl 74_37 +1 known nonsense c.7 p.E3* 1.000 NULL pfam_CRAL-TRIO_dom,pfam_MSP_dom,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_MSP_dom - no_errors MOSPD2 HGNC ENSG00000130150 tier1 - - 63 0 0.00 11 18 62.07 MPP5 0 genome.wustl.edu 37 14 67787942 67787942 + Missense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 14 67787942 67787942 C G SNP MPP5 ENST00000261681 human ensembl 74_37 +1 known missense c.1706 p.S569C 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP5 HGNC ENSG00000072415 tier1 - - 69 0 0.00 50 41 45.05 MROH2A 0 genome.wustl.edu 37 2 234688046 234688046 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 234688046 234688046 G T SNP MROH2A ENST00000389758 human ensembl 74_37 +1 novel missense c.42 p.E14D 0.407 NULL superfamily_ARM-type_fold - no_errors MROH2A HGNC ENSG00000185038 tier1 - - 55 0 0.00 41 4 8.89 MRPL15 0 genome.wustl.edu 37 8 55059975 55059975 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 8 55059975 55059975 G T SNP MRPL15 ENST00000260102 human ensembl 74_37 +1 known missense c.587 p.R196L 1.000 NULL pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P - no_errors MRPL15 HGNC ENSG00000137547 38 0 0.00 32 2 5.71 MRPL19 0 genome.wustl.edu 37 2 75882271 75882271 + Missense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 75882271 75882271 C G SNP MRPL19 ENST00000393909 human ensembl 74_37 +1 known missense c.739 p.L247V 1.000 NULL pfam_Ribosomal_L19,superfamily_Translation_prot_SH3-like,prints_Ribosomal_L19 - no_errors MRPL19 HGNC ENSG00000115364 tier1 - - 159 0 0.00 79 10 11.11 MSLNL 0 genome.wustl.edu 37 16 830591 830591 + Missense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 16 830591 830591 G A SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known missense c.410 p.A137V 0.000 NULL pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 tier1 - - 94 0 0.00 59 25 29.76 MUC12 0 genome.wustl.edu 37 7 100652377 100652377 + Missense_Mutation SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 7 100652377 100652377 T C SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.15188 p.M5063T 0.989 pfam_SEA_dom pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 44 0 0.00 37 4 9.76 MYH10 0 genome.wustl.edu 37 17 8445454 8445454 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 8445454 8445454 G T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.1546 p.Q516K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 tier1 - - 79 0 0.00 53 4 7.02 MYH7B 0 genome.wustl.edu 37 20 33577641 33577641 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 20 33577641 33577641 G T SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.1812 p.K604N 0.997 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 tier1 - - 87 0 0.00 59 21 25.61 MYLK4 0 genome.wustl.edu 37 6 2693022 2693022 + Silent SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 2693022 2693022 G T SNP MYLK4 ENST00000268446 human ensembl 74_37 -1 known silent c.231 p.L77 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MYLK4 HGNC ENSG00000145949 59 0 0.00 24 2 7.69 MYO18B 0 genome.wustl.edu 37 22 26176061 26176061 + Missense_Mutation SNP T T A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 22 26176061 26176061 T A SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.2107 p.F703I 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,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 - - 91 0 0.00 54 4 6.90 MYOM1 0 genome.wustl.edu 37 18 3084019 3084019 + Missense_Mutation SNP T T A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 18 3084019 3084019 T A SNP MYOM1 ENST00000356443 human ensembl 74_37 -1 known missense c.4346 p.K1449M 0.999 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 tier1 - - 48 0 0.00 46 26 36.11 MYZAP 0 genome.wustl.edu 37 15 57976616 57976616 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 15 57976616 57976616 C T SNP MYZAP ENST00000267853 human ensembl 74_37 +1 known missense c.1321 p.R441C 1.000 NULL NULL - no_errors MYZAP HGNC ENSG00000263155 45 0 0.00 17 2 10.53 N4BP2 0 genome.wustl.edu 37 4 40098975 40098975 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 4 40098975 40098975 G T SNP N4BP2 ENST00000261435 human ensembl 74_37 +1 known missense c.15 p.R5S 1.000 NULL pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 tier1 - - 79 0 0.00 28 5 15.15 NAA10 0 genome.wustl.edu 37 X 153197547 153197547 + Silent SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 X 153197547 153197547 G C SNP NAA10 ENST00000464845 human ensembl 74_37 -1 known silent c.363 p.L121 1.000 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA10 HGNC ENSG00000102030 tier1 - - 38 0 0.00 28 27 49.09 NCAPD2 0 genome.wustl.edu 37 12 6623482 6623482 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 12 6623482 6623482 C A SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known missense c.639 p.H213Q 1.000 pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 tier1 - - 43 0 0.00 64 18 21.95 NCBP1 0 genome.wustl.edu 37 9 100418317 100418317 + Silent SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 9 100418317 100418317 T C SNP NCBP1 ENST00000375147 human ensembl 74_37 +1 known silent c.1323 p.P441 0.939 pfam_MIF4G-like_typ-1,superfamily_ARM-type_fold pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors NCBP1 HGNC ENSG00000136937 tier1 - - 98 0 0.00 66 4 5.71 NCK2 0 genome.wustl.edu 37 2 106498469 106498469 + Silent SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 106498469 106498469 G A SNP NCK2 ENST00000233154 human ensembl 74_37 +1 known silent c.912 p.V304 0.922 pfam_SH2,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2 pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC ENSG00000071051 tier1 - - 37 0 0.00 41 20 32.26 NFYB 0 genome.wustl.edu 37 12 104522279 104522279 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 12 104522279 104522279 G T SNP NFYB ENST00000240055 human ensembl 74_37 -1 known missense c.23 p.S8Y 1.000 NULL pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_NFYB/HAP3 - no_errors NFYB HGNC ENSG00000120837 25 0 0.00 25 2 7.41 NLRP13 0 genome.wustl.edu 37 19 56424444 56424444 + Nonsense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 56424444 56424444 G A SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known nonsense c.739 p.Q247* 0.031 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 54 0 0.00 29 3 9.09 NLRP8 0 genome.wustl.edu 37 19 56467027 56467027 + Missense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 56467027 56467027 C G SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.1603 p.H535D 0.001 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 tier1 - - 63 0 0.00 52 4 7.14 NLRP9 0 genome.wustl.edu 37 19 56243981 56243981 + Missense_Mutation SNP A A T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 56243981 56243981 A T SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.1216 p.Y406N 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 tier1 - - 39 0 0.00 6 8 57.14 NOTCH1 0 genome.wustl.edu 37 9 139409151 139409151 + Missense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 9 139409151 139409151 C G SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.2018 p.S673T 0.139 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 - - 102 0 0.00 102 32 23.88 NOTCH2 0 genome.wustl.edu 37 1 120539370 120539370 + Splice_Site SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 120539370 120539370 C G SNP NOTCH2 ENST00000602566 human ensembl 74_37 -1 putative splice_site c.635-1 e4-1 0.917 - - - no_errors NOTCH2 HGNC ENSG00000134250 tier1 - - 119 0 0.00 125 26 17.22 NR5A2 0 genome.wustl.edu 37 1 200017837 200017837 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 200017837 200017837 G T SNP NR5A2 ENST00000367362 human ensembl 74_37 +1 known missense c.1001 p.S334I 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,pirsf_Steroidogenic_factor_1 pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A2 HGNC ENSG00000116833 58 0 0.00 42 4 8.16 NSUN4 0 genome.wustl.edu 37 1 46812708 46812708 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 46812708 46812708 G T SNP NSUN4 ENST00000474844 human ensembl 74_37 +1 known missense c.553 p.G185W 1.000 pfam_Fmu/NOL1/Nop2p,prints_RCMT pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN4 HGNC ENSG00000117481 38 0 0.00 33 2 5.71 NUPL1 0 genome.wustl.edu 37 13 25912993 25912993 + RNA SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 13 25912993 25912993 G T SNP NUPL1 ENST00000466694 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors NUPL1 HGNC ENSG00000139496 tier1 - - 41 0 0.00 11 27 71.05 OGDHL 0 genome.wustl.edu 37 10 50946061 50946061 + Missense_Mutation SNP T T A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 10 50946061 50946061 T A SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.2449 p.N817Y 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 tier1 - - 47 0 0.00 25 6 18.75 OPA1 0 genome.wustl.edu 37 3 193409884 193409884 + Missense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 3 193409884 193409884 G A SNP OPA1 ENST00000361510 human ensembl 74_37 +1 known missense c.3016 p.A1006T 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF - no_errors OPA1 HGNC ENSG00000198836 tier1 - - 94 0 0.00 99 27 21.43 OR10R2 0 genome.wustl.edu 37 1 158449905 158449905 + Missense_Mutation SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 158449905 158449905 T C SNP OR10R2 ENST00000368152 human ensembl 74_37 +1 known missense c.238 p.Y80H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10R2 HGNC ENSG00000198965 tier1 - - 41 0 0.00 30 9 23.08 OR12D2 0 genome.wustl.edu 37 6 29364590 29364590 + Silent SNP T T A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 29364590 29364590 T A SNP OR12D2 ENST00000383555 human ensembl 74_37 +1 known silent c.114 p.T38 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR12D2 HGNC ENSG00000168787 tier1 - - 70 0 0.00 17 45 72.58 OR4K1 0 genome.wustl.edu 37 14 20403872 20403872 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 14 20403872 20403872 G T SNP OR4K1 ENST00000285600 human ensembl 74_37 +1 known missense c.47 p.G16V 0.700 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K1 HGNC ENSG00000155249 tier1 - - 105 0 0.00 190 11 5.47 OR51I2 0 genome.wustl.edu 37 11 5475294 5475294 + Silent SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 5475294 5475294 C T SNP OR51I2 ENST00000341449 human ensembl 74_37 +1 known silent c.576 p.I192 0.189 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I2 HGNC ENSG00000187918 tier1 - - 70 0 0.00 36 4 10.00 OR5L2 0 genome.wustl.edu 37 11 55594893 55594893 + Missense_Mutation SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 55594893 55594893 T C SNP OR5L2 ENST00000378397 human ensembl 74_37 +1 known missense c.199 p.S67P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 tier1 - - 75 0 0.00 53 22 29.33 OR5M3 0 genome.wustl.edu 37 11 56237538 56237538 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 56237538 56237538 G T SNP OR5M3 ENST00000312240 human ensembl 74_37 -1 known missense c.436 p.P146T 0.136 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 tier1 - - 55 0 0.00 42 11 20.75 OR7E24 0 genome.wustl.edu 37 19 9361740 9361741 + Frame_Shift_Ins INS - - T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 9361740 9361741 - T INS OR7E24 ENST00000456448 human ensembl 74_37 +1 known frame_shift_ins c.21_22 p.F11fs 0.000:0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 tier1 66 0 0.00 21 5 19.23 OSBPL6 0 genome.wustl.edu 37 2 179247885 179247885 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 179247885 179247885 G T SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.1768 p.V590F 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 tier1 - - 27 0 0.00 19 14 42.42 PABPC3 0 genome.wustl.edu 37 13 25671806 25671806 + Silent SNP T T A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 13 25671806 25671806 T A SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known silent c.1470 p.A490 0.999 superfamily_PABP_HYD,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 45 0 0.00 25 2 7.41 PADI6 0 genome.wustl.edu 37 1 17715326 17715326 + RNA SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 17715326 17715326 T C SNP PADI6 ENST00000358481 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors PADI6 HGNC ENSG00000256049 tier1 - - 54 0 0.00 43 4 8.51 PAMR1 0 genome.wustl.edu 37 11 35489551 35489551 + Frame_Shift_Del DEL T T - TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 35489551 35489551 T - DEL PAMR1 ENST00000278360 human ensembl 74_37 -1 known frame_shift_del c.818 p.N273fs 0.733 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 22 0 0.00 23 2 8.00 PAPPA 0 genome.wustl.edu 37 9 118949454 118949455 + Frame_Shift_Ins INS - - T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 9 118949454 118949455 - T INS PAPPA ENST00000328252 human ensembl 74_37 +1 known frame_shift_ins c.437_438 p.I147fs 1.000:1.000 superfamily_ConA-like_lec_gl_sf,smart_LamG-like pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 tier1 36 0 0.00 10 19 65.52 PATZ1 0 genome.wustl.edu 37 22 31740542 31740542 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 22 31740542 31740542 G T SNP PATZ1 ENST00000266269 human ensembl 74_37 -1 known missense c.1047 p.S349R 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC ENSG00000100105 tier1 - - 69 0 0.00 68 5 6.85 PCDH9 0 genome.wustl.edu 37 13 67801527 67801527 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 13 67801527 67801527 G T SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.1046 p.T349N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 60 0 0.00 55 4 6.78 PDE3A 0 genome.wustl.edu 37 12 20807137 20807137 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 12 20807137 20807137 C T SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known missense c.3182 p.P1061L 0.996 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 tier1 - - 59 0 0.00 20 18 47.37 PDS5B 0 genome.wustl.edu 37 13 33309466 33309466 + Missense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 13 33309466 33309466 G A SNP PDS5B ENST00000315596 human ensembl 74_37 +1 known missense c.2405 p.R802Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 27 0 0.00 26 2 7.14 PDZRN4 0 genome.wustl.edu 37 12 41903641 41903641 + Nonsense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 12 41903641 41903641 G T SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known nonsense c.1129 p.E377* 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 tier1 - - 46 0 0.00 45 4 8.16 PIGN 0 genome.wustl.edu 37 18 59780447 59780447 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 18 59780447 59780447 C A SNP PIGN ENST00000357637 human ensembl 74_37 -1 known missense c.1354 p.V452L 1.000 pfam_GPI_EtnP_transferase_1_C pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGN HGNC ENSG00000197563 tier1 - - 70 0 0.00 29 9 23.68 PIK3CD 0 genome.wustl.edu 37 1 9784049 9784049 + Nonsense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 9784049 9784049 G T SNP PIK3CD ENST00000536656 human ensembl 74_37 +1 known nonsense c.2689 p.E897* 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 24 0 0.00 38 3 7.32 PKD2L2 0 genome.wustl.edu 37 5 137260764 137260764 + Silent SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 5 137260764 137260764 G A SNP PKD2L2 ENST00000508883 human ensembl 74_37 +1 known silent c.1587 p.K529 1.000 prints_PKD_2 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 - no_errors PKD2L2 HGNC ENSG00000078795 tier1 - - 96 0 0.00 51 7 12.07 PKN2 0 genome.wustl.edu 37 1 89289999 89289999 + Missense_Mutation SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 89289999 89289999 G C SNP PKN2 ENST00000370521 human ensembl 74_37 +1 known missense c.2349 p.L783F 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN2 HGNC ENSG00000065243 tier1 - - 99 0 0.00 44 26 37.14 PLA2G6 0 genome.wustl.edu 37 22 38559533 38559533 + RNA SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 22 38559533 38559533 G T SNP PLA2G6 ENST00000445591 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PLA2G6 HGNC ENSG00000184381 tier1 - - 54 0 0.00 35 8 18.60 PLAA 0 genome.wustl.edu 37 9 26947000 26947000 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 9 26947000 26947000 C T SNP PLAA ENST00000397292 human ensembl 74_37 -1 known missense c.44 p.R15Q 0.981 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_PUL,pfam_WD40_repeat,pfam_PLAA_fam_Ub-bd_PFU,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PLAA HGNC ENSG00000137055 59 0 0.00 56 4 6.67 POMGNT2 0 genome.wustl.edu 37 3 43122845 43122845 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 3 43122845 43122845 C T SNP POMGNT2 ENST00000344697 human ensembl 74_37 -1 known missense c.79 p.E27K 0.999 NULL pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3 - no_errors POMGNT2 HGNC ENSG00000144647 tier1 - - 40 0 0.00 15 5 25.00 PPP1CC 0 genome.wustl.edu 37 12 111180517 111180517 + RNA SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 12 111180517 111180517 T C SNP PPP1CC ENST00000551690 human ensembl 74_37 -1 known rna NULL NULL 0.987 - - - no_errors PPP1CC HGNC ENSG00000186298 tier1 - - 23 0 0.00 15 13 46.43 PPP1R27 0 genome.wustl.edu 37 17 79792473 79792473 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 79792473 79792473 G T SNP PPP1R27 ENST00000330261 human ensembl 74_37 -1 known missense c.247 p.L83M 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R27 HGNC ENSG00000182676 tier1 - - 57 0 0.00 66 4 5.71 PPP3CA 0 genome.wustl.edu 37 4 101947132 101947132 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 4 101947132 101947132 G T SNP PPP3CA ENST00000394854 human ensembl 74_37 -1 known missense c.1456 p.R486S 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CA HGNC ENSG00000138814 74 0 0.00 46 3 6.12 PRDM1 0 genome.wustl.edu 37 6 106536292 106536292 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 106536292 106536292 C A SNP PRDM1 ENST00000369096 human ensembl 74_37 +1 known missense c.259 p.L87M 1.000 smart_SET_dom,pirsf_Znf_PRDM1,pfscan_SET_dom pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC ENSG00000057657 tier1 - - 111 0 0.00 64 22 25.58 PRIM2 0 genome.wustl.edu 37 6 57512796 57512797 + RNA INS - - CA TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 57512796 57512797 - CA INS PRIM2 ENST00000389488 human ensembl 74_37 +1 known rna NULL NULL 0.104:0.113 - - - no_errors PRIM2 HGNC ENSG00000146143 tier1 11 0 0.00 9 5 35.71 PRKCE 0 genome.wustl.edu 37 2 46372357 46372357 + Missense_Mutation SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 46372357 46372357 A G SNP PRKCE ENST00000306156 human ensembl 74_37 +1 known missense c.1718 p.Y573C 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 tier1 - - 80 0 0.00 37 11 22.92 PRMT7 0 genome.wustl.edu 37 16 68371380 68371380 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 16 68371380 68371380 G T SNP PRMT7 ENST00000339507 human ensembl 74_37 +1 known missense c.410 p.R137L 0.956 pirsf_Arg_MeTrfase_PRMT7 pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7 - no_errors PRMT7 HGNC ENSG00000132600 37 0 0.00 56 3 5.08 PROCA1 0 genome.wustl.edu 37 17 27031456 27031456 + RNA SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 27031456 27031456 G A SNP PROCA1 ENST00000579650 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PROCA1 HGNC ENSG00000167525 tier1 - - 29 0 0.00 18 13 41.94 PRPS2 0 genome.wustl.edu 37 X 12828231 12828231 + Missense_Mutation SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 X 12828231 12828231 A G SNP PRPS2 ENST00000398491 human ensembl 74_37 +1 known missense c.505 p.I169V 1.000 pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase - no_errors PRPS2 HGNC ENSG00000101911 tier1 - - 22 0 0.00 7 7 50.00 PRRC2A 0 genome.wustl.edu 37 6 31592989 31592989 + Missense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 31592989 31592989 G A SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.505 p.E169K 1.000 pfam_BAT2_N pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 tier1 - - 30 0 0.00 20 12 36.36 PRRC2C 0 genome.wustl.edu 37 1 171535752 171535752 + Missense_Mutation SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 171535752 171535752 G C SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known missense c.6328 p.E2110Q 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 tier1 - - 49 0 0.00 20 7 25.93 PTK7 0 genome.wustl.edu 37 6 43111336 43111336 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 43111336 43111336 G T SNP PTK7 ENST00000230419 human ensembl 74_37 +1 known missense c.2229 p.E743D 1.000 NULL pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK7 HGNC ENSG00000112655 57 0 0.00 51 5 8.93 PTPN23 0 genome.wustl.edu 37 3 47448624 47448624 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 3 47448624 47448624 C T SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known missense c.812 p.A271V 0.961 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 tier1 - - 42 0 0.00 47 4 7.84 PTPRH 0 genome.wustl.edu 37 19 55716838 55716838 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 55716838 55716838 C A SNP PTPRH ENST00000376350 human ensembl 74_37 -1 known missense c.475 p.D159Y 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 tier1 - - 164 0 0.00 95 20 17.39 PTRF 0 genome.wustl.edu 37 17 40557038 40557038 + Silent SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 40557038 40557038 G A SNP PTRF ENST00000357037 human ensembl 74_37 -1 known silent c.840 p.R280 1.000 NULL NULL - no_errors PTRF HGNC ENSG00000177469 tier1 - - 45 0 0.00 42 12 22.22 RAB3C 0 genome.wustl.edu 37 5 58147162 58147162 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 5 58147162 58147162 C A SNP RAB3C ENST00000282878 human ensembl 74_37 +1 known missense c.668 p.P223H 1.000 superfamily_P-loop_NTPase,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB3C HGNC ENSG00000152932 tier1 - - 67 0 0.00 37 16 30.19 RAP2B 0 genome.wustl.edu 37 3 152881013 152881013 + Missense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 3 152881013 152881013 C G SNP RAP2B ENST00000323534 human ensembl 74_37 +1 known missense c.531 p.C177W 1.000 superfamily_P-loop_NTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2B HGNC ENSG00000181467 23 0 0.00 19 2 9.09 RBM19 0 genome.wustl.edu 37 12 114362504 114362504 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 12 114362504 114362504 G T SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known missense c.2303 p.A768E 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 tier1 - - 47 0 0.00 70 4 5.41 RERGL 0 genome.wustl.edu 37 12 18238585 18238585 + Missense_Mutation SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 12 18238585 18238585 A G SNP RERGL ENST00000229002 human ensembl 74_37 -1 known missense c.155 p.L52P 0.977 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type - no_errors RERGL HGNC ENSG00000111404 22 0 0.00 37 2 5.13 RFC4 0 genome.wustl.edu 37 3 186507806 186507806 + Silent SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 3 186507806 186507806 G T SNP RFC4 ENST00000296273 human ensembl 74_37 -1 known silent c.1044 p.L348 0.455 pfam_Rep_factorC_C_dom,superfamily_DNA_pol3_clamp-load_cplx_C pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC4 HGNC ENSG00000163918 15 0 0.00 38 2 5.00 RFX2 0 genome.wustl.edu 37 19 6190785 6190785 + RNA SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 6190785 6190785 G C SNP RFX2 ENST00000587700 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RFX2 HGNC ENSG00000087903 tier1 - - 11 0 0.00 7 5 41.67 RGAG4 0 genome.wustl.edu 37 X 71350086 71350086 + Silent SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 X 71350086 71350086 T C SNP RGAG4 ENST00000479991 human ensembl 74_37 -1 known silent c.1305 p.E435 0.000 NULL pfam_Retrotrans_gag_dom - no_errors RGAG4 HGNC ENSG00000242732 tier1 - - 26 0 0.00 5 46 90.20 RICTOR 0 genome.wustl.edu 37 5 38991089 38991089 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 5 38991089 38991089 C A SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known missense c.545 p.R182I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 tier1 - - 88 0 0.00 36 35 49.30 RIMS4 0 genome.wustl.edu 37 20 43386383 43386383 + Missense_Mutation SNP T T G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 20 43386383 43386383 T G SNP RIMS4 ENST00000541604 human ensembl 74_37 -1 known missense c.382 p.N128H 1.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RIMS4 HGNC ENSG00000101098 tier1 - - 36 0 0.00 24 15 38.46 RPL30 0 genome.wustl.edu 37 8 99054886 99054886 + Frame_Shift_Del DEL A A - TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 8 99054886 99054886 A - DEL RPL30 ENST00000287038 human ensembl 74_37 -1 known frame_shift_del c.285 p.I96fs 0.998 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors RPL30 HGNC ENSG00000156482 tier1 55 0 0.00 31 10 24.39 RPN1 0 genome.wustl.edu 37 3 128341048 128341048 + Nonsense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 3 128341048 128341048 G A SNP RPN1 ENST00000296255 human ensembl 74_37 -1 known nonsense c.1600 p.Q534* 1.000 NULL pfam_Ribophorin_I - no_errors RPN1 HGNC ENSG00000163902 tier1 - - 45 0 0.00 37 4 9.76 RTEL1 0 genome.wustl.edu 37 20 62292822 62292824 + In_Frame_Del DEL GCT GCT - TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 20 62292822 62292824 GCT - DEL RTEL1 ENST00000318100 human ensembl 74_37 +1 known in_frame_del c.274_276 p.A95in_frame_del 0.006:0.021:0.035 superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 tier1 20 0 0.00 25 3 10.71 SCEL 0 genome.wustl.edu 37 13 78211301 78211301 + Missense_Mutation SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 13 78211301 78211301 A G SNP SCEL ENST00000349847 human ensembl 74_37 +1 known missense c.1810 p.I604V 1.000 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 tier1 - - 58 0 0.00 12 18 60.00 SCN1A 0 genome.wustl.edu 37 2 166900494 166900494 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 166900494 166900494 G T SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.1728 p.S576R 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 tier1 - - 71 0 0.00 59 4 6.35 SEC22B 0 genome.wustl.edu 37 1 145116546 145116546 + RNA SNP T T A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 145116546 145116546 T A SNP SEC22B ENST00000453618 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors SEC22B HGNC ENSG00000223380 tier1 - - 137 0 0.00 141 13 8.44 SEMA3D 0 genome.wustl.edu 37 7 84685162 84685162 + Silent SNP A A T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 7 84685162 84685162 A T SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known silent c.732 p.I244 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 tier1 - - 117 0 0.00 69 18 20.69 SEMA5A 0 genome.wustl.edu 37 5 9066719 9066719 + Nonsense_Mutation SNP T T A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 5 9066719 9066719 T A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known nonsense c.2113 p.K705* 1.000 NULL pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 tier1 - - 40 0 0.00 23 34 58.62 SEPT4 0 genome.wustl.edu 37 17 56604047 56604047 + Missense_Mutation SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 56604047 56604047 G C SNP SEPT4 ENST00000457347 human ensembl 74_37 -1 known missense c.398 p.S133C 1.000 NULL pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase - no_errors SEPT4 HGNC ENSG00000108387 tier1 - - 64 0 0.00 29 4 12.12 SERPINB12 0 genome.wustl.edu 37 18 61231270 61231270 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 18 61231270 61231270 G T SNP SERPINB12 ENST00000269491 human ensembl 74_37 +1 known missense c.562 p.V188L 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB12 HGNC ENSG00000166634 tier1 - - 71 0 0.00 66 4 5.71 SETD5 0 genome.wustl.edu 37 3 9506277 9506277 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 3 9506277 9506277 G T SNP SETD5 ENST00000402198 human ensembl 74_37 +1 known missense c.2645 p.R882L 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 85 0 0.00 50 3 5.66 SF3A1 0 genome.wustl.edu 37 22 30741014 30741014 + Nonsense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 22 30741014 30741014 G A SNP SF3A1 ENST00000215793 human ensembl 74_37 -1 known nonsense c.559 p.Q187* 1.000 pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup - no_errors SF3A1 HGNC ENSG00000099995 88 0 0.00 72 4 5.26 SIDT2 0 genome.wustl.edu 37 11 117062717 117062717 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 117062717 117062717 C T SNP SIDT2 ENST00000278951 human ensembl 74_37 +1 known missense c.1922 p.S641F 1.000 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 16 0 0.00 23 2 8.00 SLC10A7 0 genome.wustl.edu 37 4 147363928 147363928 + Missense_Mutation SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 4 147363928 147363928 T C SNP SLC10A7 ENST00000394059 human ensembl 74_37 -1 known missense c.442 p.K148E 0.918 NULL NULL - no_errors SLC10A7 HGNC ENSG00000120519 tier1 - - 95 0 0.00 52 7 11.86 SLC35A5 0 genome.wustl.edu 37 3 112282359 112282359 + Missense_Mutation SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 3 112282359 112282359 G C SNP SLC35A5 ENST00000492406 human ensembl 74_37 +1 known missense c.109 p.V37L 0.999 pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A5 HGNC ENSG00000138459 tier1 - - 56 0 0.00 11 9 45.00 SLIT2 0 genome.wustl.edu 37 4 20493433 20493433 + Silent SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 4 20493433 20493433 C T SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known silent c.825 p.A275 0.608 pfam_LRR-contain_N,smart_LRR-contain_N pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 53 0 0.00 54 22 28.95 SMYD4 0 genome.wustl.edu 37 17 1703457 1703457 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 1703457 1703457 C T SNP SMYD4 ENST00000305513 human ensembl 74_37 -1 known missense c.1231 p.G411R 0.986 pfam_SET_dom pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 tier1 - - 55 0 0.00 39 4 9.30 SNX7 0 genome.wustl.edu 37 1 99150484 99150484 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 99150484 99150484 C A SNP SNX7 ENST00000306121 human ensembl 74_37 +1 known missense c.224 p.P75Q 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX7 HGNC ENSG00000162627 tier1 - - 61 0 0.00 34 18 34.62 SPEN 0 genome.wustl.edu 37 1 16261094 16261094 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 16261094 16261094 C A SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.8359 p.P2787T 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 58 0 0.00 39 4 9.30 SPIRE1 0 genome.wustl.edu 37 18 12479718 12479718 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 18 12479718 12479718 G T SNP SPIRE1 ENST00000409402 human ensembl 74_37 -1 known missense c.1384 p.L462M 1.000 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE1 HGNC ENSG00000134278 tier1 - - 49 0 0.00 55 4 6.78 SPTA1 0 genome.wustl.edu 37 1 158623119 158623119 + Silent SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 158623119 158623119 G T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.3133 p.R1045 0.004 superfamily_SH3_domain,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 43 0 0.00 27 2 6.90 SPTLC1 0 genome.wustl.edu 37 9 94809961 94809961 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 9 94809961 94809961 G T SNP SPTLC1 ENST00000262554 human ensembl 74_37 -1 known missense c.918 p.N306K 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC1 HGNC ENSG00000090054 tier1 - - 71 0 0.00 61 4 6.15 SRPR 0 genome.wustl.edu 37 11 126137598 126137598 + Missense_Mutation SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 126137598 126137598 G C SNP SRPR ENST00000332118 human ensembl 74_37 -1 known missense c.211 p.Q71E 1.000 pfam_Sig_recog_particle_rcpt_asu_N,superfamily_Longin-like_dom pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 tier1 - - 35 0 0.00 15 4 21.05 SSBP4 0 genome.wustl.edu 37 19 18541720 18541720 + Missense_Mutation SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 18541720 18541720 A G SNP SSBP4 ENST00000270061 human ensembl 74_37 +1 known missense c.349 p.M117V 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP4 HGNC ENSG00000130511 tier1 rs151097251 - 155 0 0.00 85 88 50.87 ST6GALNAC1 0 genome.wustl.edu 37 17 74621943 74621943 + Silent SNP A A T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 74621943 74621943 A T SNP ST6GALNAC1 ENST00000156626 human ensembl 74_37 -1 known silent c.1563 p.T521 0.013 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 tier1 - - 44 0 0.00 58 5 7.94 STAT1 0 genome.wustl.edu 37 2 191873731 191873731 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 191873731 191873731 G T SNP STAT1 ENST00000361099 human ensembl 74_37 -1 known missense c.231 p.F77L 0.990 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 tier1 - - 46 0 0.00 16 31 65.96 STRBP 0 genome.wustl.edu 37 9 125898383 125898383 + Silent SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 9 125898383 125898383 G T SNP STRBP ENST00000348403 human ensembl 74_37 -1 known silent c.1710 p.A570 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STRBP HGNC ENSG00000165209 tier1 - - 45 0 0.00 53 4 7.02 SYNE1 0 genome.wustl.edu 37 6 152702455 152702455 + Nonsense_Mutation SNP T T A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 152702455 152702455 T A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known nonsense c.8695 p.R2899* 0.994 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 rs119103243 - 26 0 0.00 18 11 37.93 SYNJ2BP 0 genome.wustl.edu 37 14 70839645 70839645 + RNA SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 14 70839645 70839645 T C SNP SYNJ2BP ENST00000554216 human ensembl 74_37 -1 putative rna NULL NULL 0.739 - - - no_errors SYNJ2BP HGNC ENSG00000213463 tier1 - - 53 0 0.00 21 11 34.38 TAF1C 0 genome.wustl.edu 37 16 84215619 84215619 + Missense_Mutation SNP A A T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 16 84215619 84215619 A T SNP TAF1C ENST00000378541 human ensembl 74_37 -1 known missense c.767 p.L256H 0.000 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 tier1 - - 37 0 0.00 32 4 11.11 TAF4 0 genome.wustl.edu 37 20 60581599 60581599 + Silent SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 20 60581599 60581599 G A SNP TAF4 ENST00000252996 human ensembl 74_37 -1 known silent c.2190 p.V730 0.049 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 tier1 rs145691580 - 61 0 0.00 89 19 17.59 TBC1D20 0 genome.wustl.edu 37 20 421022 421022 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 20 421022 421022 C A SNP TBC1D20 ENST00000354200 human ensembl 74_37 -1 known missense c.638 p.G213V 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D20 HGNC ENSG00000125875 63 0 0.00 62 6 8.82 TBC1D9B 0 genome.wustl.edu 37 5 179289817 179289817 + RNA SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 5 179289817 179289817 T C SNP TBC1D9B ENST00000518085 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors TBC1D9B HGNC ENSG00000197226 tier1 - - 44 0 0.00 28 24 46.15 TEX15 0 genome.wustl.edu 37 8 30701460 30701460 + Missense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 8 30701460 30701460 C G SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.5074 p.E1692Q 1.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 tier1 - - 48 0 0.00 53 17 24.29 TLN2 0 genome.wustl.edu 37 15 63131166 63131166 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 15 63131166 63131166 G T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.7486 p.G2496W 1.000 pfam_ILWEQ_dom,smart_ILWEQ_dom,pfscan_ILWEQ_dom pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 68 0 0.00 38 3 7.32 TMEM243 0 genome.wustl.edu 37 7 86827048 86827048 + RNA SNP T T A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 7 86827048 86827048 T A SNP TMEM243 ENST00000465976 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TMEM243 HGNC ENSG00000135185 tier1 - - 70 0 0.00 54 20 26.67 TMEM63A 0 genome.wustl.edu 37 1 226055696 226055696 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 226055696 226055696 C T SNP TMEM63A ENST00000366835 human ensembl 74_37 -1 known missense c.406 p.A136T 1.000 NULL pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 53 0 0.00 58 4 6.45 TNFRSF21 0 genome.wustl.edu 37 6 47251781 47251781 + Missense_Mutation SNP T T C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 47251781 47251781 T C SNP TNFRSF21 ENST00000296861 human ensembl 74_37 -1 known missense c.1136 p.K379R 1.000 NULL pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21 - no_errors TNFRSF21 HGNC ENSG00000146072 78 0 0.00 55 3 5.17 TNKS1BP1 0 genome.wustl.edu 37 11 57087724 57087724 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 57087724 57087724 C T SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known missense c.557 p.R186H 1.000 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 43 0 0.00 33 2 5.71 TNPO3 0 genome.wustl.edu 37 7 128694795 128694795 + Silent SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 7 128694795 128694795 G T SNP TNPO3 ENST00000393245 human ensembl 74_37 -1 known silent c.30 p.L10 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 tier1 - - 82 0 0.00 60 4 6.25 TNRC18 0 genome.wustl.edu 37 7 5348561 5348561 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 7 5348561 5348561 C A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.8645 p.S2882I 0.987 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 tier1 - - 32 0 0.00 67 15 18.29 TP53 0 genome.wustl.edu 37 17 7578542 7578542 + Missense_Mutation SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 7578542 7578542 G C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.388 p.L130V 0.985 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 38 0 0.00 11 15 57.69 TRIM10 0 genome.wustl.edu 37 6 30128472 30128472 + Missense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 30128472 30128472 G A SNP TRIM10 ENST00000449742 human ensembl 74_37 -1 known missense c.164 p.P55L 0.014 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM10 HGNC ENSG00000204613 tier1 - - 82 0 0.00 26 12 31.58 TRIM36 0 genome.wustl.edu 37 5 114462496 114462496 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 5 114462496 114462496 G T SNP TRIM36 ENST00000282369 human ensembl 74_37 -1 known missense c.1891 p.Q631K 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM36 HGNC ENSG00000152503 tier1 - - 33 0 0.00 9 5 35.71 TRMT5 0 genome.wustl.edu 37 14 61446377 61446377 + Missense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 14 61446377 61446377 C A SNP TRMT5 ENST00000261249 human ensembl 74_37 -1 known missense c.239 p.R80L 1.000 NULL pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT5 HGNC ENSG00000126814 tier1 - - 24 0 0.00 28 7 20.00 TTN 0 genome.wustl.edu 37 2 179593288 179593288 + Nonsense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 179593288 179593288 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.15633 p.Y5211* 0.962 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 61 0 0.00 60 4 6.25 TTN 0 genome.wustl.edu 37 2 179638020 179638020 + Silent SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 179638020 179638020 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.7671 p.S2557 0.999 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 81 0 0.00 60 4 6.25 UBQLN2 0 genome.wustl.edu 37 X 56591114 56591114 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 X 56591114 56591114 C T SNP UBQLN2 ENST00000338222 human ensembl 74_37 +1 known missense c.808 p.R270C 1.000 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN2 HGNC ENSG00000188021 tier1 - - 28 0 0.00 4 17 80.95 UEVLD 0 genome.wustl.edu 37 11 18566293 18566293 + Nonsense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 18566293 18566293 G A SNP UEVLD ENST00000396197 human ensembl 74_37 -1 known nonsense c.937 p.R313* 0.991 pfam_Lactate/malate_DH_N pfam_UEV_N,pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH - no_errors UEVLD HGNC ENSG00000151116 29 0 0.00 33 2 5.71 UMOD 0 genome.wustl.edu 37 16 20355434 20355434 + Missense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 16 20355434 20355434 G A SNP UMOD ENST00000424589 human ensembl 74_37 -1 known missense c.1342 p.R448C 0.996 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors UMOD HGNC ENSG00000169344 25 0 0.00 50 3 5.66 UNC5D 0 genome.wustl.edu 37 8 35583947 35583947 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 8 35583947 35583947 G T SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.1581 p.M527I 0.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 tier1 - - 110 0 0.00 41 20 32.79 UNC93A 0 genome.wustl.edu 37 6 167704959 167704959 + RNA SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 167704959 167704959 G T SNP UNC93A ENST00000366830 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors UNC93A HGNC ENSG00000112494 tier1 - - 62 0 0.00 66 4 5.71 UPK1A-AS1 0 genome.wustl.edu 37 19 36159309 36159309 + RNA SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 36159309 36159309 G C SNP UPK1A-AS1 ENST00000443196 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors UPK1A-AS1 HGNC ENSG00000226510 tier1 - - 36 0 0.00 19 5 20.83 URGCP 0 genome.wustl.edu 37 7 43918839 43918839 + Nonsense_Mutation SNP C C A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 7 43918839 43918839 C A SNP URGCP ENST00000453200 human ensembl 74_37 -1 known nonsense c.223 p.E75* 0.989 NULL superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 tier1 - - 60 0 0.00 71 14 16.47 USP24 0 genome.wustl.edu 37 1 55620084 55620084 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 55620084 55620084 C T SNP USP24 ENST00000294383 human ensembl 74_37 -1 novel missense c.1610 p.R537Q 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 tier1 - - 47 0 0.00 50 12 19.35 VARS 0 genome.wustl.edu 37 6 31759425 31759425 + Silent SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 6 31759425 31759425 A G SNP VARS ENST00000375663 human ensembl 74_37 -1 known silent c.1062 p.H354 0.309 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 tier1 - - 44 0 0.00 36 4 10.00 VIT 0 genome.wustl.edu 37 2 36970377 36970377 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 2 36970377 36970377 G T SNP VIT ENST00000379242 human ensembl 74_37 +1 known missense c.253 p.V85L 1.000 pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 tier1 - - 48 0 0.00 54 4 6.90 VKORC1 0 genome.wustl.edu 37 16 31105918 31105918 + Missense_Mutation SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 16 31105918 31105918 C G SNP VKORC1 ENST00000394975 human ensembl 74_37 -1 known missense c.133 p.V45L 1.000 pfam_VKOR,smart_VKOR pfam_VKOR,smart_VKOR - no_errors VKORC1 HGNC ENSG00000167397 tier1 - - 25 0 0.00 31 4 11.43 VWCE 0 genome.wustl.edu 37 11 61048112 61048112 + Silent SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 11 61048112 61048112 G A SNP VWCE ENST00000335613 human ensembl 74_37 -1 known silent c.1308 p.C436 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC ENSG00000167992 tier1 - - 64 0 0.00 49 4 7.55 WDR60 0 genome.wustl.edu 37 7 158727131 158727131 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 7 158727131 158727131 G T SNP WDR60 ENST00000407559 human ensembl 74_37 +1 known missense c.2669 p.R890I 0.992 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 tier1 - - 70 0 0.00 31 31 50.00 YARS2 0 genome.wustl.edu 37 12 32908804 32908804 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 12 32908804 32908804 G T SNP YARS2 ENST00000324868 human ensembl 74_37 -1 known missense c.5 p.A2E 1.000 NULL pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase - no_errors YARS2 HGNC ENSG00000139131 tier1 - - 49 0 0.00 4 8 66.67 ZBTB40 0 genome.wustl.edu 37 1 22848056 22848056 + Missense_Mutation SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 1 22848056 22848056 G C SNP ZBTB40 ENST00000375647 human ensembl 74_37 +1 known missense c.3116 p.R1039P 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 73 0 0.00 45 3 6.25 ZDHHC19 0 genome.wustl.edu 37 3 195937566 195937566 + Silent SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 3 195937566 195937566 A G SNP ZDHHC19 ENST00000296326 human ensembl 74_37 -1 known silent c.189 p.V63 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC19 HGNC ENSG00000163958 tier1 - - 51 0 0.00 39 5 11.36 ZKSCAN7 0 genome.wustl.edu 37 3 44598659 44598659 + Silent SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 3 44598659 44598659 C T SNP ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known silent c.120 p.S40 0.998 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN7 HGNC ENSG00000196345 tier1 - - 59 0 0.00 27 4 12.90 ZNF185 0 genome.wustl.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 X 152087570 152087572 GAG - DEL ZNF185 ENST00000370270 human ensembl 74_37 +1 known in_frame_del c.475_477 p.E162in_frame_del 0.026:0.052:0.078 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 tier1 37 0 0.00 18 3 14.29 ZNF234 0 genome.wustl.edu 37 19 44661674 44661674 + Missense_Mutation SNP A A T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 44661674 44661674 A T SNP ZNF234 ENST00000426739 human ensembl 74_37 +1 known missense c.1505 p.H502L 0.983 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 ZNF234 HGNC ENSG00000263002 tier1 - - 67 0 0.00 40 8 16.67 ZNF285 0 genome.wustl.edu 37 19 44890737 44890737 + Missense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 44890737 44890737 G A SNP ZNF285 ENST00000330997 human ensembl 74_37 -1 known missense c.1670 p.A557V 0.000 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 ZNF285 HGNC ENSG00000267508 72 0 0.00 44 5 10.20 ZNF438 0 genome.wustl.edu 37 10 31138755 31138755 + Silent SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 10 31138755 31138755 C T SNP ZNF438 ENST00000361310 human ensembl 74_37 -1 known silent c.579 p.A193 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 tier1 - - 39 0 0.00 29 12 29.27 ZNF449 0 genome.wustl.edu 37 X 134481196 134481196 + Silent SNP C C G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 X 134481196 134481196 C G SNP ZNF449 ENST00000339249 human ensembl 74_37 +1 known silent c.153 p.L51 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF449 HGNC ENSG00000173275 tier1 - - 19 0 0.00 12 7 36.84 ZNF521 0 genome.wustl.edu 37 18 22807224 22807224 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 18 22807224 22807224 G T SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.658 p.H220N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 64 0 0.00 31 4 11.43 ZNF556 0 genome.wustl.edu 37 19 2877636 2877636 + Missense_Mutation SNP G G C TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 2877636 2877636 G C SNP ZNF556 ENST00000307635 human ensembl 74_37 +1 known missense c.680 p.G227A 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 ZNF556 HGNC ENSG00000172000 tier1 - - 46 0 0.00 15 32 68.09 ZNF570 0 genome.wustl.edu 37 19 37974781 37974781 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 19 37974781 37974781 G T SNP ZNF570 ENST00000330173 human ensembl 74_37 +1 known missense c.257 p.G86V 0.910 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF570 HGNC ENSG00000171827 tier1 - - 49 0 0.00 46 4 8.00 ZNF688 0 genome.wustl.edu 37 16 30581255 30581255 + Silent SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 16 30581255 30581255 G T SNP ZNF688 ENST00000223459 human ensembl 74_37 -1 known silent c.813 p.I271 1.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF688 HGNC ENSG00000229809 47 0 0.00 46 4 8.00 ZNF890P 0 genome.wustl.edu 37 7 5161474 5161474 + RNA SNP T T G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 7 5161474 5161474 T G SNP ZNF890P ENST00000422060 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors ZNF890P HGNC ENSG00000159904 tier1 - - 45 0 0.00 26 7 21.21 ZPBP2 0 genome.wustl.edu 37 17 38027810 38027810 + Missense_Mutation SNP A A G TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9372ab61-4d63-4c11-96c2-9cdb19a67071 6a7d6675-a723-4ad5-88cb-11ede9c3b998 17 38027810 38027810 A G SNP ZPBP2 ENST00000348931 human ensembl 74_37 +1 known missense c.338 p.Y113C 1.000 pfam_Sp38-bd,pfscan_Ig-like_dom pfam_Sp38-bd,pfscan_Ig-like_dom - no_errors ZPBP2 HGNC ENSG00000186075 tier1 - - 70 0 0.00 43 10 18.87