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 ABCA1 0 genome.wustl.edu 37 9 107554264 107554264 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 9 107554264 107554264 G A SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.5773 p.R1925W 1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 tier1 - - 25 0 0.00 4 20 83.33 ABCA13 0 genome.wustl.edu 37 7 48259050 48259050 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 7 48259050 48259050 G A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.387 p.M129I 0.983 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 94 0 0.00 50 4 7.41 ABCA13 0 genome.wustl.edu 37 7 48654945 48654945 + Missense_Mutation SNP C C A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 7 48654945 48654945 C A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.14809 p.L4937I 1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 74 0 0.00 39 13 25.00 ABCA6 0 genome.wustl.edu 37 17 67080613 67080613 + Missense_Mutation SNP T T C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 17 67080613 67080613 T C SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known missense c.4220 p.N1407S 0.222 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 tier1 - - 35 0 0.00 12 4 25.00 ACACA 0 genome.wustl.edu 37 17 35633933 35633933 + Silent SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 17 35633933 35633933 G T SNP ACACA ENST00000353139 human ensembl 74_37 -1 known silent c.795 p.A265 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,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 tier1 - - 80 0 0.00 19 18 48.65 ACAD9 0 genome.wustl.edu 37 3 128616490 128616490 + Silent SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 3 128616490 128616490 C T SNP ACAD9 ENST00000308982 human ensembl 74_37 +1 known silent c.570 p.A190 0.908 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACAD9 HGNC ENSG00000177646 tier1 - - 58 0 0.00 46 9 16.36 ACCSL 0 genome.wustl.edu 37 11 44073269 44073269 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 11 44073269 44073269 G A SNP ACCSL ENST00000378832 human ensembl 74_37 +1 known missense c.772 p.E258K 0.996 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCSL HGNC ENSG00000205126 tier1 rs199907490 - 34 0 0.00 18 6 25.00 ACTA2 0 genome.wustl.edu 37 10 90703631 90703631 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 10 90703631 90703631 C T SNP ACTA2 ENST00000224784 human ensembl 74_37 -1 known missense c.292 p.V98I 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA2 HGNC ENSG00000107796 61 0 0.00 25 4 13.79 ADAM18 0 genome.wustl.edu 37 8 39534972 39534972 + Silent SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 8 39534972 39534972 C T SNP ADAM18 ENST00000265707 human ensembl 74_37 +1 known silent c.1548 p.A516 0.985 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich 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_Peptidase_M12B - no_errors ADAM18 HGNC ENSG00000168619 tier1 - - 74 0 0.00 49 4 7.55 ADCY10P1 0 genome.wustl.edu 37 6 41092399 41092399 + RNA SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 6 41092399 41092399 C T SNP ADCY10P1 ENST00000567255 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ADCY10P1 HGNC ENSG00000161912 tier1 - - 91 0 0.00 50 4 7.41 ADD1 0 genome.wustl.edu 37 4 2896417 2896417 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 4 2896417 2896417 G A SNP ADD1 ENST00000264758 human ensembl 74_37 +1 known missense c.700 p.V234M 0.996 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ENSG00000087274 tier1 - - 49 0 0.00 11 3 21.43 AFF2 0 genome.wustl.edu 37 X 148038118 148038118 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 X 148038118 148038118 C T SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.2543 p.A848V 0.122 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 tier1 - - 53 0 0.00 18 3 14.29 AHNAK 0 genome.wustl.edu 37 11 62299653 62299653 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 11 62299653 62299653 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.2236 p.H746Y 0.827 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 134 0 0.00 61 4 6.15 AKAP3 0 genome.wustl.edu 37 12 4736873 4736873 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 4736873 4736873 C T SNP AKAP3 ENST00000228850 human ensembl 74_37 -1 known missense c.1195 p.D399N 0.750 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 18 0 0.00 12 3 20.00 ANAPC5 0 genome.wustl.edu 37 12 121790048 121790048 + Silent SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 121790048 121790048 C T SNP ANAPC5 ENST00000261819 human ensembl 74_37 -1 known silent c.96 p.P32 0.887 NULL smart_TPR_repeat - no_errors ANAPC5 HGNC ENSG00000089053 tier1 - - 33 0 0.00 23 4 14.81 ANK2 0 genome.wustl.edu 37 4 114209643 114209643 + Splice_Site SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 4 114209643 114209643 G T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known splice_site c.2277+1 e20+1 1.000 - - - no_errors ANK2 HGNC ENSG00000145362 tier1 - - 115 0 0.00 54 4 6.90 ANKHD1 0 genome.wustl.edu 37 5 139908479 139908479 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 5 139908479 139908479 G T SNP ANKHD1 ENST00000297183 human ensembl 74_37 +1 known missense c.5948 p.C1983F 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 tier1 - - 44 0 0.00 36 4 10.00 AP2M1 0 genome.wustl.edu 37 3 183895369 183895369 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 3 183895369 183895369 C T SNP AP2M1 ENST00000411763 human ensembl 74_37 +1 novel missense c.113 p.S38F 0.125 superfamily_Longin-like_dom,pirsf_Clathrin_mu pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP2M1 HGNC ENSG00000161203 41 0 0.00 36 4 10.00 ARHGAP18 0 genome.wustl.edu 37 6 129955223 129955223 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 6 129955223 129955223 G T SNP ARHGAP18 ENST00000368149 human ensembl 74_37 -1 known missense c.580 p.L194I 0.938 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP18 HGNC ENSG00000146376 tier1 - - 131 0 0.00 55 4 6.78 ARID2 0 genome.wustl.edu 37 12 46285565 46285565 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 46285565 46285565 G T SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known missense c.4925 p.W1642L 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 tier1 - - 31 0 0.00 13 3 18.75 ARMC10 0 genome.wustl.edu 37 7 102716296 102716296 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 7 102716296 102716296 G T SNP ARMC10 ENST00000323716 human ensembl 74_37 +1 known missense c.212 p.W71L 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC10 HGNC ENSG00000170632 tier1 - - 38 0 0.00 19 28 59.57 ARMC10 0 genome.wustl.edu 37 7 102716313 102716313 + Nonsense_Mutation SNP A A T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 7 102716313 102716313 A T SNP ARMC10 ENST00000323716 human ensembl 74_37 +1 known nonsense c.229 p.K77* 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC10 HGNC ENSG00000170632 tier1 - - 40 0 0.00 21 34 61.82 ATP5A1 0 genome.wustl.edu 37 18 43669554 43669554 + Frame_Shift_Del DEL T T - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 18 43669554 43669554 T - DEL ATP5A1 ENST00000282050 human ensembl 74_37 -1 known frame_shift_del c.628 p.I210fs 1.000 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_F1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_F1-cplx_asu - no_errors ATP5A1 HGNC ENSG00000152234 tier1 43 0 0.00 14 2 12.50 ATP5B 0 genome.wustl.edu 37 12 57037213 57037213 + Missense_Mutation SNP T T A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 57037213 57037213 T A SNP ATP5B ENST00000262030 human ensembl 74_37 -1 known missense c.766 p.I256F 1.000 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_ATPase_F1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,smart_AAA+_ATPase,tigrfam_ATPase_F1-cplx_bsu - no_errors ATP5B HGNC ENSG00000110955 tier1 - - 48 0 0.00 24 8 25.00 ATP6AP1 0 genome.wustl.edu 37 X 153662700 153662700 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 X 153662700 153662700 G A SNP ATP6AP1 ENST00000369762 human ensembl 74_37 +1 known silent c.831 p.A277 0.000 pfam_BIG/ATPase_V1_suS1 pfam_BIG/ATPase_V1_suS1 - no_errors ATP6AP1 HGNC ENSG00000071553 tier1 rs143207881 - 25 0 0.00 31 4 11.43 BAIAP2-AS1 0 genome.wustl.edu 37 17 79005144 79005144 + RNA SNP T T A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 17 79005144 79005144 T A SNP BAIAP2-AS1 ENST00000542745 human ensembl 74_37 -1 known rna NULL NULL 0.033 - - - no_errors BAIAP2-AS1 HGNC ENSG00000226137 tier1 - - 103 0 0.00 47 8 14.55 BAX 0 genome.wustl.edu 37 19 49464862 49464862 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 49464862 49464862 C T SNP BAX ENST00000345358 human ensembl 74_37 +1 known missense c.548 p.A183V 0.999 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAX HGNC ENSG00000087088 18 0 0.00 9 3 25.00 BBS4 0 genome.wustl.edu 37 15 72987563 72987563 + Frame_Shift_Del DEL A A - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 15 72987563 72987563 A - DEL BBS4 ENST00000395205 human ensembl 74_37 +1 known frame_shift_del c.94 p.A34fs 0.850 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors BBS4 HGNC ENSG00000140463 tier1 89 0 0.00 34 2 5.56 BCL7B 0 genome.wustl.edu 37 7 72951689 72951689 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 7 72951689 72951689 G A SNP BCL7B ENST00000223368 human ensembl 74_37 -1 known missense c.548 p.P183L 0.961 NULL pfam_BCL7 - no_errors BCL7B HGNC ENSG00000106635 tier1 - - 41 0 0.00 42 4 8.70 BCORP1 0 genome.wustl.edu 37 Y 21621235 21621235 + RNA SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 Y 21621235 21621235 G A SNP BCORP1 ENST00000400605 human ensembl 74_37 -1 known rna NULL NULL 0.968 - - - no_errors BCORP1 HGNC ENSG00000215580 tier1 - - 82 0 0.00 11 3 21.43 BMPR1B 0 genome.wustl.edu 37 4 96051071 96051071 + Missense_Mutation SNP A A C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 4 96051071 96051071 A C SNP BMPR1B ENST00000440890 human ensembl 74_37 +1 known missense c.734 p.Y245S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_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 tier1 - - 61 0 0.00 19 16 44.44 BOD1L2 0 genome.wustl.edu 37 18 54815059 54815059 + Silent SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 18 54815059 54815059 C T SNP BOD1L2 ENST00000585477 human ensembl 74_37 +1 known silent c.516 p.S172 0.986 NULL NULL - no_errors BOD1L2 HGNC ENSG00000228075 tier1 - - 40 0 0.00 12 3 20.00 BRINP1 0 genome.wustl.edu 37 9 121929725 121929725 + Silent SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 9 121929725 121929725 C T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known silent c.1923 p.S641 0.003 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 34 0 0.00 20 5 20.00 C12orf50 0 genome.wustl.edu 37 12 88381723 88381723 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 88381723 88381723 G T SNP C12orf50 ENST00000298699 human ensembl 74_37 -1 known missense c.721 p.P241T 1.000 NULL NULL - no_errors C12orf50 HGNC ENSG00000165805 99 0 0.00 49 3 5.77 C14orf28 0 genome.wustl.edu 37 14 45374625 45374625 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 14 45374625 45374625 G T SNP C14orf28 ENST00000325192 human ensembl 74_37 +1 known missense c.805 p.A269S 1.000 NULL NULL - no_errors C14orf28 HGNC ENSG00000179476 tier1 - - 126 0 0.00 70 4 5.33 C1orf111 0 genome.wustl.edu 37 1 162344173 162344173 + Nonsense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 162344173 162344173 G A SNP C1orf111 ENST00000367935 human ensembl 74_37 -1 known nonsense c.451 p.R151* 0.794 NULL NULL - no_errors C1orf111 HGNC ENSG00000171722 tier1 - - 49 0 0.00 15 7 31.82 C1orf61 0 genome.wustl.edu 37 1 156374385 156374386 + Frame_Shift_Ins INS - - T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 156374385 156374386 - T INS C1orf61 ENST00000368243 human ensembl 74_37 -1 known frame_shift_ins c.432_431 p.K145fs 0.984:0.983 NULL NULL - no_errors C1orf61 HGNC ENSG00000125462 tier1 70 0 0.00 11 10 47.62 CCDC124 0 genome.wustl.edu 37 19 18054449 18054449 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 18054449 18054449 G A SNP CCDC124 ENST00000445755 human ensembl 74_37 +1 known silent c.597 p.L199 1.000 pfam_DUF1014,superfamily_HMG_box_dom pfam_DUF1014,superfamily_HMG_box_dom - no_errors CCDC124 HGNC ENSG00000007080 tier1 - - 85 0 0.00 48 4 7.69 CCDC160 0 genome.wustl.edu 37 X 133379619 133379619 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 X 133379619 133379619 G T SNP CCDC160 ENST00000370809 human ensembl 74_37 +1 known missense c.789 p.M263I 0.984 NULL NULL - no_errors CCDC160 HGNC ENSG00000203952 tier1 - - 58 0 0.00 23 13 36.11 CCDC180 0 genome.wustl.edu 37 9 100124025 100124025 + Frame_Shift_Del DEL C C - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 9 100124025 100124025 C - DEL CCDC180 ENST00000375202 human ensembl 74_37 +1 known frame_shift_del c.3633 p.Q1212fs 0.000 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 tier1 51 0 0.00 15 2 11.76 CCDC27 0 genome.wustl.edu 37 1 3679830 3679830 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 3679830 3679830 G T SNP CCDC27 ENST00000294600 human ensembl 74_37 +1 known missense c.1113 p.E371D 0.037 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 83 0 0.00 37 2 5.13 CCL20 0 genome.wustl.edu 37 2 228681084 228681084 + Missense_Mutation SNP A A G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 228681084 228681084 A G SNP CCL20 ENST00000358813 human ensembl 74_37 +1 known missense c.253 p.I85V 0.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL20 HGNC ENSG00000115009 24 0 0.00 8 2 20.00 CCP110 0 genome.wustl.edu 37 16 19547383 19547383 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 16 19547383 19547383 C T SNP CCP110 ENST00000381396 human ensembl 74_37 +1 known missense c.392 p.T131M 0.407 NULL NULL - no_errors CCP110 HGNC ENSG00000103540 tier1 - - 102 0 0.00 38 9 18.75 CD22 0 genome.wustl.edu 37 19 35832388 35832388 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 35832388 35832388 G A SNP CD22 ENST00000085219 human ensembl 74_37 +1 known silent c.1650 p.L550 0.001 pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD22 HGNC ENSG00000012124 58 0 0.00 35 2 5.41 CDH19 0 genome.wustl.edu 37 18 64235834 64235834 + Missense_Mutation SNP C C A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 18 64235834 64235834 C A SNP CDH19 ENST00000262150 human ensembl 74_37 -1 known missense c.309 p.Q103H 0.958 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 tier1 - - 70 0 0.00 18 7 28.00 CHAT 0 genome.wustl.edu 37 10 50835768 50835769 + Frame_Shift_Ins INS - - T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 10 50835768 50835769 - T INS CHAT ENST00000337653 human ensembl 74_37 +1 known frame_shift_ins c.1048_1049 p.G351fs 0.997:1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 tier1 57 0 0.00 9 2 18.18 CLVS2 0 genome.wustl.edu 37 6 123332263 123332263 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 6 123332263 123332263 C T SNP CLVS2 ENST00000275162 human ensembl 74_37 +1 known missense c.523 p.L175F 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS2 HGNC ENSG00000146352 tier1 - - 81 0 0.00 34 4 10.53 CNTNAP3 0 genome.wustl.edu 37 9 39176040 39176040 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 9 39176040 39176040 C T SNP CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known missense c.977 p.R326H 0.130 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 tier1 - - 153 0 0.00 40 16 28.57 COG1 0 genome.wustl.edu 37 17 71192713 71192713 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 17 71192713 71192713 C T SNP COG1 ENST00000299886 human ensembl 74_37 +1 known missense c.383 p.P128L 1.000 NULL NULL - no_errors COG1 HGNC ENSG00000166685 52 0 0.00 35 3 7.89 COL11A1 0 genome.wustl.edu 37 1 103352393 103352393 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 103352393 103352393 G T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.4864 p.L1622M 1.000 pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 68 0 0.00 21 3 12.50 COL19A1 0 genome.wustl.edu 37 6 70866605 70866605 + Missense_Mutation SNP A A T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 6 70866605 70866605 A T SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.2282 p.K761I 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 tier1 - - 91 0 0.00 35 7 16.67 COL1A1 0 genome.wustl.edu 37 17 48272618 48272618 + Missense_Mutation SNP C C A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 17 48272618 48272618 C A SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known missense c.1274 p.G425V 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 tier1 - - 90 0 0.00 20 17 45.95 COL3A1 0 genome.wustl.edu 37 2 189854839 189854839 + Silent SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 189854839 189854839 C T SNP COL3A1 ENST00000304636 human ensembl 74_37 +1 known silent c.708 p.P236 0.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 70 0 0.00 36 2 5.26 COL9A1 0 genome.wustl.edu 37 6 71011706 71011706 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 6 71011706 71011706 G A SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known missense c.86 p.P29L 0.999 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 59 0 0.00 33 2 5.71 COX19 0 genome.wustl.edu 37 7 1009024 1009024 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 7 1009024 1009024 G T SNP COX19 ENST00000344111 human ensembl 74_37 -1 known missense c.263 p.A88E 0.011 NULL pfam_CHCH,superfamily_Cys_alpha_HP_mot_SF - no_errors COX19 HGNC ENSG00000240230 51 0 0.00 37 2 5.13 CP 0 genome.wustl.edu 37 3 148925178 148925178 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 3 148925178 148925178 G A SNP CP ENST00000264613 human ensembl 74_37 -1 known silent c.1008 p.L336 0.848 pfam_Cu-oxidase_2,pfam_Cu-oxidase,superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 65 0 0.00 45 3 6.25 CPAMD8 0 genome.wustl.edu 37 19 17032782 17032782 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 17032782 17032782 G T SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.3703 p.L1235M 1.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 tier1 - - 76 0 0.00 38 4 9.52 CRISP3 0 genome.wustl.edu 37 6 49703265 49703265 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 6 49703265 49703265 C T SNP CRISP3 ENST00000433368 human ensembl 74_37 -1 known missense c.298 p.A100T 0.998 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_CAP_domain,pfam_Cysteine_rich_secretory,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors CRISP3 HGNC ENSG00000096006 tier1 - - 71 0 0.00 22 4 15.38 CSMD2 0 genome.wustl.edu 37 1 34080113 34080113 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 34080113 34080113 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.6124 p.V2042M 0.996 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 CSMD2 HGNC ENSG00000121904 59 0 0.00 33 2 5.71 CTNNBL1 0 genome.wustl.edu 37 20 36322545 36322545 + Silent SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 20 36322545 36322545 G T SNP CTNNBL1 ENST00000361383 human ensembl 74_37 +1 putative silent c.21 p.L7 1.000 NULL pfam_CTNNBL1_N,superfamily_ARM-type_fold - no_errors CTNNBL1 HGNC ENSG00000132792 tier1 - - 171 0 0.00 72 4 5.26 CYP2D6 0 genome.wustl.edu 37 22 42523617 42523617 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 22 42523617 42523617 G A SNP CYP2D6 ENST00000360608 human ensembl 74_37 -1 known silent c.1005 p.I335 0.982 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2D6 HGNC ENSG00000100197 tier1 rs199980688 - 59 0 0.00 41 4 8.89 CYTIP 0 genome.wustl.edu 37 2 158272436 158272436 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 158272436 158272436 G A SNP CYTIP ENST00000264192 human ensembl 74_37 -1 known missense c.833 p.T278M 0.998 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors CYTIP HGNC ENSG00000115165 tier1 - - 30 0 0.00 8 7 46.67 DACH2 0 genome.wustl.edu 37 X 86069759 86069759 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 X 86069759 86069759 G A SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known missense c.1606 p.E536K 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 tier1 - - 41 0 0.00 31 4 11.43 DBNL 0 genome.wustl.edu 37 7 44089906 44089906 + RNA SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 7 44089906 44089906 G A SNP DBNL ENST00000497184 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DBNL HGNC ENSG00000136279 tier1 - - 46 0 0.00 28 11 28.21 DCN 0 genome.wustl.edu 37 12 91572284 91572284 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 91572284 91572284 C T SNP DCN ENST00000052754 human ensembl 74_37 -1 known missense c.46 p.A16T 1.000 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors DCN HGNC ENSG00000011465 67 0 0.00 23 2 8.00 DDX1 0 genome.wustl.edu 37 2 15757366 15757366 + Splice_Site SNP A A G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 15757366 15757366 A G SNP DDX1 ENST00000233084 human ensembl 74_37 +1 known splice_site c.1018-2 e15-2 1.000 - - - no_errors DDX1 HGNC ENSG00000079785 81 0 0.00 38 2 5.00 DEAF1 0 genome.wustl.edu 37 11 684948 684948 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 11 684948 684948 G T SNP DEAF1 ENST00000382409 human ensembl 74_37 -1 known missense c.820 p.P274T 1.000 superfamily_SAND_dom-like pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom - no_errors DEAF1 HGNC ENSG00000177030 tier1 - - 34 0 0.00 13 4 23.53 DISP1 0 genome.wustl.edu 37 1 223116621 223116621 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 223116621 223116621 G A SNP DISP1 ENST00000360254 human ensembl 74_37 +1 putative silent c.456 p.P152 0.978 NULL NULL - no_errors DISP1 HGNC ENSG00000154309 36 0 0.00 18 2 10.00 DLG2 0 genome.wustl.edu 37 11 83344363 83344363 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 11 83344363 83344363 C T SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.1831 p.A611T 1.000 superfamily_PDZ,pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 112 0 0.00 36 4 10.00 DLGAP2 0 genome.wustl.edu 37 8 1645353 1645353 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 8 1645353 1645353 C T SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.2597 p.A866V 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 tier1 - - 75 0 0.00 25 4 13.79 DNAH11 0 genome.wustl.edu 37 7 21584746 21584746 + Missense_Mutation SNP T T A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 7 21584746 21584746 T A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.474 p.H158Q 0.863 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 tier1 - - 69 0 0.00 39 10 20.41 DNAH7 0 genome.wustl.edu 37 2 196726445 196726445 + Missense_Mutation SNP T T C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 196726445 196726445 T C SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.7732 p.R2578G 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 28 0 0.00 24 2 7.69 DOCK10 0 genome.wustl.edu 37 2 225662559 225662559 + Missense_Mutation SNP A A T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 225662559 225662559 A T SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.4634 p.F1545Y 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 tier1 - - 81 0 0.00 19 3 13.64 DSG1 0 genome.wustl.edu 37 18 28913559 28913559 + Missense_Mutation SNP G G C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 18 28913559 28913559 G C SNP DSG1 ENST00000257192 human ensembl 74_37 +1 known missense c.692 p.G231A 0.102 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSG1 HGNC ENSG00000134760 56 0 0.00 34 2 5.56 DTWD1 0 genome.wustl.edu 37 15 49926911 49926911 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 15 49926911 49926911 G A SNP DTWD1 ENST00000251250 human ensembl 74_37 +1 known missense c.587 p.G196D 0.011 pfam_DTW pfam_DTW - no_errors DTWD1 HGNC ENSG00000104047 74 0 0.00 43 4 8.51 DTX4 0 genome.wustl.edu 37 11 58949853 58949853 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 11 58949853 58949853 G A SNP DTX4 ENST00000227451 human ensembl 74_37 +1 known missense c.853 p.G285R 0.946 NULL pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX4 HGNC ENSG00000110042 88 0 0.00 38 2 5.00 DYNC1H1 0 genome.wustl.edu 37 14 102482791 102482791 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 14 102482791 102482791 C T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.7579 p.P2527S 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 48 0 0.00 29 2 6.45 EHBP1 0 genome.wustl.edu 37 2 63176138 63176138 + Missense_Mutation SNP A A C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 63176138 63176138 A C SNP EHBP1 ENST00000263991 human ensembl 74_37 +1 known missense c.2262 p.K754N 0.942 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 tier1 - - 45 0 0.00 19 4 17.39 EIF4A2 0 genome.wustl.edu 37 3 186507053 186507053 + Missense_Mutation SNP A A G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 3 186507053 186507053 A G SNP EIF4A2 ENST00000440191 human ensembl 74_37 +1 known missense c.1222 p.I408V 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000156976 tier1 - - 42 0 0.00 21 10 32.26 ELMO2 0 genome.wustl.edu 37 20 45014770 45014770 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 20 45014770 45014770 G A SNP ELMO2 ENST00000439931 human ensembl 74_37 -1 known missense c.670 p.L224F 1.000 pfam_DUF3361,superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ENSG00000062598 28 0 0.00 11 4 26.67 ELMO2 0 genome.wustl.edu 37 20 45014791 45014791 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 20 45014791 45014791 C T SNP ELMO2 ENST00000439931 human ensembl 74_37 -1 known missense c.649 p.V217M 1.000 pfam_DUF3361,superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ENSG00000062598 29 0 0.00 11 4 26.67 ENSG00000197182 0 genome.wustl.edu 37 22 46505687 46505687 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 22 46505687 46505687 C T SNP ENSG00000197182 ENST00000360737 human ensembl 74_37 +1 putative missense c.280 p.R94C 0.001 NULL NULL - no_errors FLJ27365 Uniprot_gn ENSG00000197182 tier1 - - 48 0 0.00 20 7 25.93 ENSG00000228768 0 genome.wustl.edu 37 17 29898172 29898172 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 17 29898172 29898172 G A SNP ENSG00000228768 ENST00000412403 human ensembl 74_37 +1 putative missense c.8 p.S3N 0.018 NULL NULL - no_errors AC003101.1 Clone_based_vega_gene ENSG00000228768 tier1 - - 41 0 0.00 23 4 14.81 ENSG00000232748 0 genome.wustl.edu 37 16 31073109 31073109 + Missense_Mutation SNP C C A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 16 31073109 31073109 C A SNP ENSG00000232748 ENST00000417110 human ensembl 74_37 +1 known missense c.297 p.F99L 0.897 NULL NULL - no_errors ZNF668 Uniprot_gn ENSG00000232748 tier1 - - 63 0 0.00 30 13 30.23 ENSG00000259498 0 genome.wustl.edu 37 15 63340982 63340983 + RNA INS - - C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 15 63340982 63340983 - C INS ENSG00000259498 ENST00000561241 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-244F12.3 Clone_based_vega_gene ENSG00000259498 tier1 36 0 0.00 20 4 16.67 ENSG00000260261 0 genome.wustl.edu 37 3 195679539 195679540 + RNA INS - - AGTAAAATG TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 3 195679539 195679540 0 AGTAAAATG INS ENSG00000260261 ENST00000570130 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-480A16.1 Clone_based_vega_gene ENSG00000260261 13 0 0.00 5 2 28.57 ENSG00000263624 0 genome.wustl.edu 37 17 17071988 17071988 + RNA SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 17 17071988 17071988 G A SNP ENSG00000263624 ENST00000584203 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-45M22.3 Clone_based_vega_gene ENSG00000263624 tier1 - - 44 0 0.00 18 4 18.18 FAM107A 0 genome.wustl.edu 37 3 58555547 58555547 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 3 58555547 58555547 C T SNP FAM107A ENST00000360997 human ensembl 74_37 -1 known missense c.41 p.G14D 0.869 NULL pfam_DUF1151 - no_errors FAM107A HGNC ENSG00000168309 tier1 - - 30 0 0.00 13 3 18.75 FAM124A 0 genome.wustl.edu 37 13 51825970 51825970 + Missense_Mutation SNP G G C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 13 51825970 51825970 G C SNP FAM124A ENST00000280057 human ensembl 74_37 +1 known missense c.575 p.G192A 1.000 NULL NULL - no_errors FAM124A HGNC ENSG00000150510 tier1 - - 55 0 0.00 6 5 45.45 FAR2 0 genome.wustl.edu 37 12 29423409 29423409 + Silent SNP C C G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 29423409 29423409 C G SNP FAR2 ENST00000182377 human ensembl 74_37 +1 known silent c.27 p.G9 0.009 NULL pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 tier1 - - 38 0 0.00 24 6 20.00 FAT4 0 genome.wustl.edu 37 4 126241918 126241918 + Missense_Mutation SNP T T C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 4 126241918 126241918 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.4352 p.I1451T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 38 0 0.00 4 8 66.67 FBN1 0 genome.wustl.edu 37 15 48704821 48704821 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 15 48704821 48704821 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.8171 p.P2724L 1.000 superfamily_Growth_fac_rcpt_N_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 tier1 - - 65 0 0.00 28 6 17.65 FCRL4 0 genome.wustl.edu 37 1 157545234 157545234 + RNA SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 157545234 157545234 C T SNP FCRL4 ENST00000448509 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FCRL4 HGNC ENSG00000163518 tier1 - - 22 0 0.00 13 7 35.00 FGF7 0 genome.wustl.edu 37 15 49716708 49716708 + Missense_Mutation SNP C C G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 15 49716708 49716708 C G SNP FGF7 ENST00000267843 human ensembl 74_37 +1 known missense c.214 p.R72G 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF7 HGNC ENSG00000140285 52 0 0.00 18 2 10.00 FLG 0 genome.wustl.edu 37 1 152284119 152284119 + Silent SNP T T C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 152284119 152284119 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.3243 p.S1081 0.000 prints_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 139 0 0.00 63 4 5.97 FLNC 0 genome.wustl.edu 37 7 128487788 128487788 + Missense_Mutation SNP C C A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 7 128487788 128487788 C A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.4326 p.D1442E 0.985 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 tier1 - - 99 0 0.00 27 7 20.59 FREM1 0 genome.wustl.edu 37 9 14748440 14748440 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 9 14748440 14748440 G T SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.5758 p.L1920I 0.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 tier1 - - 55 0 0.00 13 4 23.53 FRMD5 0 genome.wustl.edu 37 15 44166455 44166455 + Frame_Shift_Del DEL C C - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 15 44166455 44166455 C - DEL FRMD5 ENST00000417257 human ensembl 74_37 -1 known frame_shift_del c.1341 p.Q448fs 1.000 NULL pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FRMD5 HGNC ENSG00000171877 tier1 43 0 0.00 13 2 13.33 FUT3 0 genome.wustl.edu 37 19 5844729 5844729 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 5844729 5844729 G T SNP FUT3 ENST00000303225 human ensembl 74_37 -1 known missense c.122 p.A41D 0.001 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT3 HGNC ENSG00000171124 104 0 0.00 73 4 5.19 GALNT13 0 genome.wustl.edu 37 2 155295110 155295110 + Missense_Mutation SNP T T A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 155295110 155295110 T A SNP GALNT13 ENST00000409237 human ensembl 74_37 +1 known missense c.1402 p.S468T 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC ENSG00000144278 61 0 0.00 34 2 5.56 GDF9 0 genome.wustl.edu 37 5 132200009 132200009 + Silent SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 5 132200009 132200009 G T SNP GDF9 ENST00000296875 human ensembl 74_37 -1 known silent c.217 p.R73 0.030 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF9 HGNC ENSG00000164404 63 0 0.00 33 2 5.71 GLUD1 0 genome.wustl.edu 37 10 88854347 88854347 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 10 88854347 88854347 G A SNP GLUD1 ENST00000277865 human ensembl 74_37 -1 known silent c.180 p.R60 0.577 NULL pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD1 HGNC ENSG00000148672 tier1 - - 37 0 0.00 14 10 41.67 GNS 0 genome.wustl.edu 37 12 65134404 65134404 + Missense_Mutation SNP T T C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 65134404 65134404 T C SNP GNS ENST00000258145 human ensembl 74_37 -1 known missense c.857 p.D286G 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase - no_errors GNS HGNC ENSG00000135677 tier1 - - 75 0 0.00 30 13 30.23 GOLGA6L5 0 genome.wustl.edu 37 15 85052986 85052987 + RNA DEL AC AC - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 15 85052986 85052987 AC 0 DEL GOLGA6L5 ENST00000414190 human ensembl 74_37 -1 known rna NULL NULL 0.430:0.435 - - - no_errors GOLGA6L5 HGNC ENSG00000230373 12 0 0.00 4 2 33.33 GPR123 0 genome.wustl.edu 37 10 134896022 134896022 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 10 134896022 134896022 C T SNP GPR123 ENST00000607359 human ensembl 74_37 +1 putative missense c.1108 p.P370S 0.001 NULL pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 tier1 - - 52 0 0.00 14 4 22.22 GPR39 0 genome.wustl.edu 37 2 133174826 133174826 + Missense_Mutation SNP C C A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 133174826 133174826 C A SNP GPR39 ENST00000329321 human ensembl 74_37 +1 known missense c.211 p.H71N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 tier1 - - 82 0 0.00 28 5 15.15 GPR98 0 genome.wustl.edu 37 5 89990388 89990388 + Missense_Mutation SNP G G C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 5 89990388 89990388 G C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.7815 p.L2605F 0.000 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 57 0 0.00 22 4 15.38 GRM7 0 genome.wustl.edu 37 3 7188222 7188222 + Silent SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 3 7188222 7188222 C T SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known silent c.603 p.P201 0.058 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 72 0 0.00 24 2 7.69 GSE1 0 genome.wustl.edu 37 16 85687979 85687979 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 16 85687979 85687979 G A SNP GSE1 ENST00000253458 human ensembl 74_37 +1 known silent c.522 p.S174 0.998 pfam_GSE-like pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 tier1 - - 98 0 0.00 39 4 9.30 GUF1 0 genome.wustl.edu 37 4 44688650 44688650 + Silent SNP T T A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 4 44688650 44688650 T A SNP GUF1 ENST00000281543 human ensembl 74_37 +1 known silent c.858 p.I286 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel,tigrfam_EF-4 pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_P-loop_NTPase,superfamily_EFG_III-V,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom - no_errors GUF1 HGNC ENSG00000151806 tier1 - - 128 0 0.00 27 18 40.00 GYPA 0 genome.wustl.edu 37 4 145038046 145038046 + Silent SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 4 145038046 145038046 C T SNP GYPA ENST00000360771 human ensembl 74_37 -1 known silent c.318 p.T106 0.000 pfam_Glycophorin,pirsf_Glycophorin pfam_Glycophorin,pirsf_Glycophorin - no_errors GYPA HGNC ENSG00000170180 88 0 0.00 34 2 5.56 HCAR2 0 genome.wustl.edu 37 12 123187116 123187116 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 123187116 123187116 C T SNP HCAR2 ENST00000328880 human ensembl 74_37 -1 known missense c.715 p.V239I 0.788 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR2 HGNC ENSG00000182782 tier1 - - 39 0 0.00 30 8 20.51 HCRTR2 0 genome.wustl.edu 37 6 55142277 55142277 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 6 55142277 55142277 G A SNP HCRTR2 ENST00000370862 human ensembl 74_37 +1 known missense c.862 p.A288T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt - no_errors HCRTR2 HGNC ENSG00000137252 tier1 - - 89 0 0.00 38 7 15.56 HM13 0 genome.wustl.edu 37 20 30142485 30142485 + RNA DEL A A - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 20 30142485 30142485 A - DEL HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.172 - - - no_errors HM13 HGNC ENSG00000101294 tier1 31 0 0.00 10 2 16.67 HNRNPDL 0 genome.wustl.edu 37 4 83350556 83350556 + Silent SNP T T C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 4 83350556 83350556 T C SNP HNRNPDL ENST00000295470 human ensembl 74_37 -1 known silent c.288 p.Q96 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPDL HGNC ENSG00000152795 tier1 - - 72 0 0.00 31 16 34.04 HOMEZ 0 genome.wustl.edu 37 14 23745776 23745776 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 14 23745776 23745776 G T SNP HOMEZ ENST00000431326 human ensembl 74_37 -1 known missense c.667 p.Q223K 1.000 NULL superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOMEZ HGNC ENSG00000215271 36 0 0.00 18 2 10.00 HTR1D 0 genome.wustl.edu 37 1 23520239 23520239 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 23520239 23520239 C T SNP HTR1D ENST00000314113 human ensembl 74_37 -1 known missense c.474 p.M158I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt - no_errors HTR1D HGNC ENSG00000179546 tier1 - - 18 0 0.00 12 4 25.00 IDH2 0 genome.wustl.edu 37 15 90628068 90628068 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 15 90628068 90628068 G A SNP IDH2 ENST00000330062 human ensembl 74_37 -1 known silent c.1251 p.G417 0.996 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP - no_errors IDH2 HGNC ENSG00000182054 tier1 - - 59 0 0.00 31 8 20.51 IDH2 0 genome.wustl.edu 37 15 90628069 90628069 + Missense_Mutation SNP C C A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 15 90628069 90628069 C A SNP IDH2 ENST00000330062 human ensembl 74_37 -1 known missense c.1250 p.G417V 1.000 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP - no_errors IDH2 HGNC ENSG00000182054 tier1 - - 62 0 0.00 31 8 20.51 IKBKE 0 genome.wustl.edu 37 1 206667323 206667323 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 206667323 206667323 C T SNP IKBKE ENST00000367120 human ensembl 74_37 +1 known missense c.2116 p.R706W 0.954 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 IKBKE HGNC ENSG00000143466 tier1 - - 68 0 0.00 22 8 26.67 INO80C 0 genome.wustl.edu 37 18 33077820 33077820 + Missense_Mutation SNP T T C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 18 33077820 33077820 T C SNP INO80C ENST00000441607 human ensembl 74_37 -1 known missense c.19 p.I7V 0.556 NULL pfam_YL1_C - no_errors INO80C HGNC ENSG00000153391 tier1 - - 119 0 0.00 58 4 6.45 INPP5K 0 genome.wustl.edu 37 17 1412530 1412530 + Silent SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 17 1412530 1412530 G T SNP INPP5K ENST00000421807 human ensembl 74_37 -1 known silent c.496 p.R166 0.999 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5K HGNC ENSG00000132376 tier1 - - 104 0 0.00 44 4 8.33 INTS7 0 genome.wustl.edu 37 1 212120048 212120048 + Splice_Site SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 212120048 212120048 C T SNP INTS7 ENST00000440600 human ensembl 74_37 -1 known splice_site c.2170-1 e17-1 1.000 - - - no_errors INTS7 HGNC ENSG00000143493 tier1 - - 92 0 0.00 54 4 6.90 JAK1 0 genome.wustl.edu 37 1 65321352 65321352 + Missense_Mutation SNP C C A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 65321352 65321352 C A SNP JAK1 ENST00000342505 human ensembl 74_37 -1 known missense c.1488 p.K496N 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,smart_SH2,prints_Tyr_kinase_non-rcpt_Jak1,pfscan_SH2 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 45 0 0.00 22 2 8.33 KALRN 0 genome.wustl.edu 37 3 124351417 124351417 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 3 124351417 124351417 G A SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.5327 p.R1776H 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 tier1 - - 53 0 0.00 41 7 14.58 KCNA1 0 genome.wustl.edu 37 12 5021930 5021930 + Missense_Mutation SNP T T A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 5021930 5021930 T A SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known missense c.1386 p.N462K 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 tier1 - - 42 0 0.00 14 6 30.00 KCNT2 0 genome.wustl.edu 37 1 196436841 196436841 + Missense_Mutation SNP T T G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 196436841 196436841 T G SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.535 p.N179H 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 113 0 0.00 44 14 24.14 KDM6A 0 genome.wustl.edu 37 X 44949998 44949998 + Missense_Mutation SNP A A T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 X 44949998 44949998 A T SNP KDM6A ENST00000382899 human ensembl 74_37 +1 known missense c.3788 p.Y1263F 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 tier1 - - 55 0 0.00 12 7 36.84 KEAP1 0 genome.wustl.edu 37 19 10602767 10602767 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 10602767 10602767 C T SNP KEAP1 ENST00000171111 human ensembl 74_37 -1 known missense c.811 p.V271M 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KEAP1 HGNC ENSG00000079999 tier1 - - 29 0 0.00 17 5 22.73 KIF14 0 genome.wustl.edu 37 1 200572411 200572411 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 200572411 200572411 G A SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known missense c.1922 p.S641L 0.998 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 75 0 0.00 35 2 5.41 KIF19 0 genome.wustl.edu 37 17 72346553 72346553 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 17 72346553 72346553 G A SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known silent c.1227 p.L409 0.977 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 tier1 - - 97 0 0.00 61 4 6.15 KIF20A 0 genome.wustl.edu 37 5 137517359 137517359 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 5 137517359 137517359 C T SNP KIF20A ENST00000394894 human ensembl 74_37 +1 known missense c.317 p.A106V 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 KIF20A HGNC ENSG00000112984 tier1 - - 80 0 0.00 43 4 8.51 KIF9-AS1 0 genome.wustl.edu 37 3 47288042 47288043 + RNA DEL TT TT - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 3 47288042 47288043 TT - DEL KIF9-AS1 ENST00000429315 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors KIF9-AS1 HGNC ENSG00000227398 tier1 14 0 0.00 10 2 16.67 KLHL24 0 genome.wustl.edu 37 3 183381296 183381296 + Missense_Mutation SNP T T C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 3 183381296 183381296 T C SNP KLHL24 ENST00000242810 human ensembl 74_37 +1 known missense c.971 p.V324A 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL24 HGNC ENSG00000114796 77 0 0.00 72 4 5.26 KLHL38 0 genome.wustl.edu 37 8 124664837 124664837 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 8 124664837 124664837 G A SNP KLHL38 ENST00000325995 human ensembl 74_37 -1 known silent c.330 p.A110 0.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC ENSG00000175946 tier1 - - 30 0 0.00 14 9 39.13 KMT2D 0 genome.wustl.edu 37 12 49416552 49416552 + Nonsense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 49416552 49416552 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known nonsense c.16159 p.Q5387* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 62 0 0.00 20 10 33.33 LCAT 0 genome.wustl.edu 37 16 67976482 67976482 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 16 67976482 67976482 C T SNP LCAT ENST00000264005 human ensembl 74_37 -1 known missense c.532 p.E178K 0.996 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors LCAT HGNC ENSG00000213398 tier1 - - 32 0 0.00 12 11 47.83 LNPEP 0 genome.wustl.edu 37 5 96315139 96315139 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 5 96315139 96315139 C T SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known missense c.317 p.P106L 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 tier1 - - 41 0 0.00 13 8 38.10 LOC152225 0 genome.wustl.edu 37 3 101713621 101713621 + RNA SNP T T G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 3 101713621 101713621 T G SNP LOC152225 ENST00000465215 human ensembl 74_37 +1 known rna NULL NULL 0.311 - - - no_errors RP11-221J22.1 Clone_based_vega_gene ENSG00000214407 tier1 - - 61 0 0.00 52 12 18.75 LOC201651 0 genome.wustl.edu 37 3 151493535 151493537 + RNA DEL TGT TGT - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 3 151493535 151493537 TGT - DEL LOC201651 ENST00000462937 human ensembl 74_37 +1 known rna NULL NULL 0.999:1.000:0.998 - - - no_errors RP11-64D22.2 Clone_based_vega_gene ENSG00000240602 tier1 152 0 0.00 44 64 59.26 LOC440040 0 genome.wustl.edu 37 11 49831413 49831413 + RNA SNP A A T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 11 49831413 49831413 A T SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 tier1 - - 298 0 0.00 150 34 18.48 LRP4 0 genome.wustl.edu 37 11 46911974 46911974 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 11 46911974 46911974 C T SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known missense c.1769 p.R590H 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt 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 40 0 0.00 19 3 13.64 LZTS2 0 genome.wustl.edu 37 10 102763415 102763417 + In_Frame_Del DEL CCT CCT - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 10 102763415 102763417 CCT - DEL LZTS2 ENST00000370220 human ensembl 74_37 +1 known in_frame_del c.560_562 p.S191in_frame_del 0.994:0.989:1.000 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 tier1 32 0 0.00 10 2 16.67 MALAT1 0 genome.wustl.edu 37 11 65273569 65273569 + RNA SNP A A T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 11 65273569 65273569 A T SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MALAT1 HGNC ENSG00000251562 25 0 0.00 10 4 21.05 MANEA 0 genome.wustl.edu 37 6 96034899 96034899 + Missense_Mutation SNP A A G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 6 96034899 96034899 A G SNP MANEA ENST00000369293 human ensembl 74_37 +1 known missense c.584 p.Y195C 0.000 NULL NULL - no_errors MANEA HGNC ENSG00000172469 tier1 - - 94 0 0.00 26 10 27.78 MAPKAP1 0 genome.wustl.edu 37 9 128327795 128327795 + RNA SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 9 128327795 128327795 C T SNP MAPKAP1 ENST00000448439 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MAPKAP1 HGNC ENSG00000119487 tier1 - - 58 0 0.00 11 19 63.33 MGAT5B 0 genome.wustl.edu 37 17 74898723 74898723 + Missense_Mutation SNP T T C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 17 74898723 74898723 T C SNP MGAT5B ENST00000428789 human ensembl 74_37 +1 known missense c.449 p.L150P 1.000 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 tier1 - - 96 0 0.00 51 12 19.05 MICAL1 0 genome.wustl.edu 37 6 109769427 109769428 + Frame_Shift_Ins INS - - C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 6 109769427 109769428 - C INS MICAL1 ENST00000368952 human ensembl 74_37 -1 known frame_shift_ins c.1891_1890 p.K630fs 0.947:1.000 superfamily_CH-domain pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 tier1 60 0 0.00 18 2 10.00 MRPS31 0 genome.wustl.edu 37 13 41333214 41333214 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 13 41333214 41333214 C T SNP MRPS31 ENST00000323563 human ensembl 74_37 -1 known missense c.469 p.A157T 0.999 NULL NULL - no_errors MRPS31 HGNC ENSG00000102738 13 0 0.00 7 2 22.22 MRVI1 0 genome.wustl.edu 37 11 10598061 10598061 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 11 10598061 10598061 G T SNP MRVI1 ENST00000421747 human ensembl 74_37 -1 known missense c.2530 p.Q844K 1.000 pfam_MRVI1 pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 48 0 0.00 24 2 7.69 MUC17 0 genome.wustl.edu 37 7 100685536 100685536 + Missense_Mutation SNP C C A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 7 100685536 100685536 C A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.10839 p.S3613R 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 60 0 0.00 35 48 57.83 MYBPC2 0 genome.wustl.edu 37 19 50939968 50939968 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 50939968 50939968 G T SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known missense c.440 p.C147F 1.000 pfam_Ig_I-set,smart_Ig_sub 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 MYBPC2 HGNC ENSG00000086967 tier1 - - 81 0 0.00 38 6 13.64 MYH1 0 genome.wustl.edu 37 17 10399868 10399868 + Splice_Site DEL T T - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 17 10399868 10399868 T - DEL MYH1 ENST00000226207 human ensembl 74_37 -1 known splice_site_del c.4657-2 e32-2 0.999 - - - no_errors MYH1 HGNC ENSG00000109061 tier1 58 0 0.00 15 2 11.76 MYH2 0 genome.wustl.edu 37 17 10435052 10435052 + Missense_Mutation SNP A A C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 17 10435052 10435052 A C SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.2595 p.I865M 0.930 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 107 0 0.00 33 3 8.33 MYO18B 0 genome.wustl.edu 37 22 26164791 26164791 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 22 26164791 26164791 G T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.908 p.G303V 0.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 - - 165 0 0.00 45 14 23.73 NAV1 0 genome.wustl.edu 37 1 201762966 201762966 + Frame_Shift_Del DEL C C - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 201762966 201762966 C - DEL NAV1 ENST00000367296 human ensembl 74_37 +1 known frame_shift_del c.3368 p.R1124fs 0.824 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 tier1 33 0 0.00 12 3 20.00 NBEAL1 0 genome.wustl.edu 37 2 203975005 203975005 + Missense_Mutation SNP G G C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 203975005 203975005 G C SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known missense c.1995 p.W665C 1.000 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 47 0 0.00 40 5 11.11 NBEAL1 0 genome.wustl.edu 37 2 203975006 203975006 + Splice_Site SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 203975006 203975006 G A SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known splice_site c.1995+1 e13+1 1.000 - - - no_errors NBEAL1 HGNC ENSG00000144426 46 0 0.00 41 5 10.87 NBPF6 0 genome.wustl.edu 37 1 109008025 109008025 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 109008025 109008025 G T SNP NBPF6 ENST00000370040 human ensembl 74_37 +1 known missense c.1726 p.G576W 0.001 NULL pfam_NBPF_dom - no_errors NBPF6 HGNC ENSG00000186086 tier1 - - 45 0 0.00 12 15 55.56 NCAPD2 0 genome.wustl.edu 37 12 6637976 6637976 + Missense_Mutation SNP A A T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 6637976 6637976 A T SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known missense c.3431 p.Q1144L 0.994 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 63 0 0.00 41 4 8.89 NDUFAF5 0 genome.wustl.edu 37 20 13765855 13765855 + Silent SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 20 13765855 13765855 C T SNP NDUFAF5 ENST00000378106 human ensembl 74_37 +1 known silent c.141 p.F47 1.000 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Put_SAM_MeTrfase - no_errors NDUFAF5 HGNC ENSG00000101247 tier1 - - 154 0 0.00 89 7 7.29 NEIL3 0 genome.wustl.edu 37 4 178274833 178274833 + Missense_Mutation SNP C C A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 4 178274833 178274833 C A SNP NEIL3 ENST00000264596 human ensembl 74_37 +1 known missense c.1411 p.Q471K 0.936 NULL pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL3 HGNC ENSG00000109674 tier1 - - 69 0 0.00 38 4 9.52 NFRKB 0 genome.wustl.edu 37 11 129739725 129739725 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 11 129739725 129739725 G A SNP NFRKB ENST00000524794 human ensembl 74_37 -1 known silent c.3270 p.G1090 0.906 NULL NULL - no_errors NFRKB HGNC ENSG00000170322 27 0 0.00 11 2 15.38 NFU1 0 genome.wustl.edu 37 2 69623356 69623356 + RNA SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 69623356 69623356 C T SNP NFU1 ENST00000471185 human ensembl 74_37 -1 known rna NULL NULL 0.191 - - - no_errors NFU1 HGNC ENSG00000169599 tier1 - - 49 0 0.00 36 4 10.00 NKPD1 0 genome.wustl.edu 37 19 45656613 45656613 + Nonsense_Mutation SNP G G C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 45656613 45656613 G C SNP NKPD1 ENST00000317951 human ensembl 74_37 -1 known nonsense c.1082 p.S361* 0.907 pfam_KAP_NTPase pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 tier1 - - 9 0 0.00 8 4 33.33 NOS1 0 genome.wustl.edu 37 12 117672482 117672482 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 117672482 117672482 G A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known silent c.3123 p.F1041 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 - - 59 0 0.00 32 8 20.00 NUDCD1 0 genome.wustl.edu 37 8 110308631 110308631 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 8 110308631 110308631 G A SNP NUDCD1 ENST00000239690 human ensembl 74_37 -1 known silent c.441 p.S147 0.982 NULL pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDCD1 HGNC ENSG00000120526 108 0 0.00 62 4 6.06 OGDHL 0 genome.wustl.edu 37 10 50955146 50955146 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 10 50955146 50955146 C T SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.1096 p.A366T 1.000 pfam_DH_E1,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 64 0 0.00 41 3 6.82 OLFM1 0 genome.wustl.edu 37 9 137982066 137982066 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 9 137982066 137982066 G T SNP OLFM1 ENST00000371793 human ensembl 74_37 +1 known missense c.176 p.S59I 1.000 pfam_Noelin-1 pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM1 HGNC ENSG00000130558 tier1 - - 58 0 0.00 14 18 56.25 OLFM1 0 genome.wustl.edu 37 9 137982067 137982067 + Silent SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 9 137982067 137982067 C T SNP OLFM1 ENST00000371793 human ensembl 74_37 +1 known silent c.177 p.S59 1.000 pfam_Noelin-1 pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM1 HGNC ENSG00000130558 tier1 - - 58 0 0.00 13 18 58.06 OR11H1 0 genome.wustl.edu 37 22 16449517 16449517 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 22 16449517 16449517 C T SNP OR11H1 ENST00000252835 human ensembl 74_37 -1 known missense c.288 p.M96I 0.922 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H1 HGNC ENSG00000130538 tier1 rs201085735 - 66 0 0.00 34 5 12.82 OR2G2 0 genome.wustl.edu 37 1 247752160 247752160 + Silent SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 247752160 247752160 C T SNP OR2G2 ENST00000320065 human ensembl 74_37 +1 known silent c.499 p.L167 0.392 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G2 HGNC ENSG00000177489 tier1 - - 44 0 0.00 20 11 35.48 OR5AP2 0 genome.wustl.edu 37 11 56409234 56409234 + Missense_Mutation SNP A A T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 11 56409234 56409234 A T SNP OR5AP2 ENST00000544374 human ensembl 74_37 -1 known missense c.685 p.F229I 0.108 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AP2 HGNC ENSG00000172464 66 0 0.00 27 2 6.90 OR5H1 0 genome.wustl.edu 37 3 97851542 97851542 + Missense_Mutation SNP A A C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 3 97851542 97851542 A C SNP OR5H1 ENST00000354565 human ensembl 74_37 +1 known missense c.1 p.M1L 0.219 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H1 HGNC ENSG00000231192 tier1 - - 93 0 0.00 71 8 10.13 OR6B2 0 genome.wustl.edu 37 2 240969562 240969562 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 240969562 240969562 G A SNP OR6B2 ENST00000402971 human ensembl 74_37 -1 known silent c.285 p.V95 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B2 HGNC ENSG00000182083 tier1 - - 43 0 0.00 21 4 16.00 OR7E94P 0 genome.wustl.edu 37 4 80508906 80508907 + RNA INS - - AA TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 4 80508906 80508907 - AA INS OR7E94P ENST00000601375 human ensembl 74_37 -1 known rna NULL NULL 0.004:0.015 - - - no_errors OR7E94P HGNC ENSG00000249646 tier1 30 0 0.00 17 3 15.00 OSTF1 0 genome.wustl.edu 37 9 77745557 77745557 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 9 77745557 77745557 G T SNP OSTF1 ENST00000346234 human ensembl 74_37 +1 known missense c.196 p.V66L 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Ankyrin_rpt - no_errors OSTF1 HGNC ENSG00000134996 tier1 - - 68 0 0.00 28 4 12.50 PARP4 0 genome.wustl.edu 37 13 25016086 25016086 + Silent SNP A A G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 13 25016086 25016086 A G SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known silent c.3564 p.F1188 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 23 0 0.00 10 3 23.08 PAXIP1 0 genome.wustl.edu 37 7 154753307 154753307 + Missense_Mutation SNP T T C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 7 154753307 154753307 T C SNP PAXIP1 ENST00000397192 human ensembl 74_37 -1 known missense c.2179 p.M727V 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 tier1 - - 66 0 0.00 19 11 36.67 PCDH1 0 genome.wustl.edu 37 5 141243246 141243246 + Frame_Shift_Del DEL T T - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 5 141243246 141243246 T - DEL PCDH1 ENST00000287008 human ensembl 74_37 -1 known frame_shift_del c.2650 p.S884fs 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 tier1 108 0 0.00 38 2 5.00 PCDHA1 0 genome.wustl.edu 37 5 140166704 140166706 + In_Frame_Del DEL GTC GTC - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 GTC GTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 5 140166704 140166706 GTC - DEL PCDHA1 ENST00000504120 human ensembl 74_37 +1 known in_frame_del c.829_831 p.V278in_frame_del 0.163:0.221:0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 tier1 51 0 0.00 27 4 12.90 PCDHAC1 0 genome.wustl.edu 37 5 140306538 140306538 + Missense_Mutation SNP C C A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 5 140306538 140306538 C A SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known missense c.61 p.Q21K 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 tier1 - - 41 0 0.00 19 7 26.92 PCDHB13 0 genome.wustl.edu 37 5 140595516 140595516 + Silent SNP C C G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 5 140595516 140595516 C G SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known silent c.1821 p.L607 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 tier1 - - 69 0 0.00 27 17 38.64 PCDHB4 0 genome.wustl.edu 37 5 140501605 140501605 + Missense_Mutation SNP C C A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 5 140501605 140501605 C A SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known missense c.25 p.P9T 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 tier1 - - 81 0 0.00 43 4 8.51 PID1 0 genome.wustl.edu 37 2 229890706 229890706 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 229890706 229890706 G A SNP PID1 ENST00000354069 human ensembl 74_37 -1 known missense c.395 p.A132V 0.999 smart_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors PID1 HGNC ENSG00000153823 tier1 - - 93 0 0.00 30 8 21.05 PIGX 0 genome.wustl.edu 37 3 196460740 196460740 + Silent SNP A A T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 3 196460740 196460740 A T SNP PIGX ENST00000296333 human ensembl 74_37 +1 known silent c.798 p.V266 0.000 pfam_PIG-X/PBN1,smart_PIG-X/PBN1 pfam_PIG-X/PBN1,smart_PIG-X/PBN1 - no_errors PIGX HGNC ENSG00000163964 tier1 - - 72 0 0.00 55 42 43.30 PIK3C2G 0 genome.wustl.edu 37 12 18435079 18435079 + Missense_Mutation SNP C C A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 18435079 18435079 C A SNP PIK3C2G ENST00000538779 human ensembl 74_37 +1 known missense c.64 p.Q22K 0.032 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 53 0 0.00 35 2 5.41 PKD1L1 0 genome.wustl.edu 37 7 47921601 47921601 + Silent SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 7 47921601 47921601 G T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known silent c.3348 p.P1116 0.009 pfam_PKD/REJ-like,pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 55 0 0.00 47 4 7.84 PLCB1 0 genome.wustl.edu 37 20 8770221 8770221 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 20 8770221 8770221 G T SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.3335 p.R1112M 1.000 pirsf_PLC-beta,pfam_PLC-beta_C pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 tier1 - - 53 0 0.00 24 3 11.11 PLXNB1 0 genome.wustl.edu 37 3 48456238 48456238 + Silent SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 3 48456238 48456238 C T SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known silent c.4179 p.R1393 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 tier1 - - 71 0 0.00 16 4 20.00 PLXNB2 0 genome.wustl.edu 37 22 50728477 50728477 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 22 50728477 50728477 G A SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known silent c.537 p.N179 0.848 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 tier1 - - 49 0 0.00 5 9 64.29 PON1 0 genome.wustl.edu 37 7 94935642 94935642 + Missense_Mutation SNP A A C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 7 94935642 94935642 A C SNP PON1 ENST00000222381 human ensembl 74_37 -1 known missense c.735 p.I245M 1.000 pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase1 - no_errors PON1 HGNC ENSG00000005421 tier1 - - 74 0 0.00 47 7 12.96 PPIG 0 genome.wustl.edu 37 2 170487452 170487452 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 170487452 170487452 G T SNP PPIG ENST00000260970 human ensembl 74_37 +1 known missense c.716 p.R239L 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 107 0 0.00 51 4 7.27 PPL 0 genome.wustl.edu 37 16 4938128 4938128 + Missense_Mutation SNP G G C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 16 4938128 4938128 G C SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.2489 p.S830C 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 tier1 - - 55 0 0.00 26 6 18.75 PPM1K 0 genome.wustl.edu 37 4 89198299 89198299 + Silent SNP A A G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 4 89198299 89198299 A G SNP PPM1K ENST00000608933 human ensembl 74_37 -1 known silent c.537 p.A179 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1K HGNC ENSG00000163644 tier1 - - 96 0 0.00 29 17 36.96 PRR12 0 genome.wustl.edu 37 19 50101025 50101025 + Frame_Shift_Del DEL C C - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 50101025 50101025 C - DEL PRR12 ENST00000418929 human ensembl 74_37 +1 novel frame_shift_del c.3433 p.N1146fs 0.982 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 tier1 14 0 0.00 4 2 33.33 PRRC2C 0 genome.wustl.edu 37 1 171560972 171560972 + Missense_Mutation SNP G G C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 171560972 171560972 G C SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known missense c.8683 p.E2895Q 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 tier1 - - 108 0 0.00 40 9 18.37 PTCH1 0 genome.wustl.edu 37 9 98218581 98218581 + Nonsense_Mutation SNP C C A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 9 98218581 98218581 C A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known nonsense c.3283 p.E1095* 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 tier1 - - 55 0 0.00 15 12 44.44 PTH1R 0 genome.wustl.edu 37 3 46939390 46939390 + Missense_Mutation SNP T T A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 3 46939390 46939390 T A SNP PTH1R ENST00000313049 human ensembl 74_37 +1 known missense c.359 p.L120Q 0.486 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 tier1 - - 74 0 0.00 17 10 37.04 PXN 0 genome.wustl.edu 37 12 120651760 120651760 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 120651760 120651760 C T SNP PXN ENST00000267257 human ensembl 74_37 -1 known missense c.1436 p.R479H 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin - no_errors PXN HGNC ENSG00000089159 tier1 - - 71 0 0.00 45 4 8.16 PYROXD1 0 genome.wustl.edu 37 12 21614963 21614963 + Missense_Mutation SNP A A G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 21614963 21614963 A G SNP PYROXD1 ENST00000240651 human ensembl 74_37 +1 known missense c.902 p.E301G 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors PYROXD1 HGNC ENSG00000121350 tier1 - - 32 0 0.00 29 4 12.12 RALGPS2 0 genome.wustl.edu 37 1 178790786 178790786 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 178790786 178790786 G A SNP RALGPS2 ENST00000367635 human ensembl 74_37 +1 known missense c.427 p.V143M 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC ENSG00000116191 46 0 0.00 29 2 6.45 RANBP3 0 genome.wustl.edu 37 19 5951443 5951443 + Silent SNP A A G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 5951443 5951443 A G SNP RANBP3 ENST00000340578 human ensembl 74_37 -1 known silent c.243 p.P81 1.000 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 tier1 - - 119 0 0.00 53 4 7.02 RBMS3 0 genome.wustl.edu 37 3 30032678 30032678 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 3 30032678 30032678 G A SNP RBMS3 ENST00000383767 human ensembl 74_37 +1 known missense c.1285 p.A429T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS3 HGNC ENSG00000144642 tier1 - - 80 0 0.00 17 3 15.00 RIOK2 0 genome.wustl.edu 37 5 96512996 96512996 + Splice_Site SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 5 96512996 96512996 C T SNP RIOK2 ENST00000283109 human ensembl 74_37 -1 known splice_site c.323-1 e4-1 1.000 - - - no_errors RIOK2 HGNC ENSG00000058729 tier1 - - 42 0 0.00 19 3 13.64 RNMTL1 0 genome.wustl.edu 37 17 685696 685696 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 17 685696 685696 G A SNP RNMTL1 ENST00000304478 human ensembl 74_37 +1 known silent c.78 p.A26 0.220 NULL pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd - no_errors RNMTL1 HGNC ENSG00000171861 65 0 0.00 35 2 5.41 RPL12 0 genome.wustl.edu 37 9 130212812 130212812 + RNA SNP A A G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 9 130212812 130212812 A G SNP RPL12 ENST00000497322 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RPL12 HGNC ENSG00000197958 tier1 - - 17 0 0.00 5 7 58.33 RUSC1 0 genome.wustl.edu 37 1 155296483 155296483 + Silent SNP T T C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 155296483 155296483 T C SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known silent c.1974 p.T658 1.000 pfam_Run,smart_Run,pfscan_Run pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 tier1 - - 47 0 0.00 14 10 41.67 SACS 0 genome.wustl.edu 37 13 23911207 23911207 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 13 23911207 23911207 C T SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.6808 p.G2270S 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 107 0 0.00 35 10 22.22 SCAF11 0 genome.wustl.edu 37 12 46320784 46320784 + Missense_Mutation SNP A A T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 46320784 46320784 A T SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known missense c.2700 p.D900E 0.935 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 tier1 - - 34 0 0.00 9 3 25.00 SCUBE3 0 genome.wustl.edu 37 6 35216380 35216380 + Missense_Mutation SNP G G C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 6 35216380 35216380 G C SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known missense c.2928 p.Q976H 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 68 0 0.00 34 2 5.56 SH3BP5-AS1 0 genome.wustl.edu 37 3 15297542 15297543 + RNA INS - - A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 3 15297542 15297543 - A INS SH3BP5-AS1 ENST00000420195 human ensembl 74_37 +1 known rna NULL NULL 0.086:0.104 - - - no_errors SH3BP5-AS1 HGNC ENSG00000224660 tier1 53 0 0.00 16 2 11.11 SHMT1 0 genome.wustl.edu 37 17 18250887 18250887 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 17 18250887 18250887 G T SNP SHMT1 ENST00000316694 human ensembl 74_37 -1 known missense c.442 p.H148N 1.000 pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase - no_errors SHMT1 HGNC ENSG00000176974 69 0 0.00 35 3 7.89 SIRT1 0 genome.wustl.edu 37 10 69672363 69672363 + Missense_Mutation SNP A A G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 10 69672363 69672363 A G SNP SIRT1 ENST00000212015 human ensembl 74_37 +1 known missense c.1490 p.Y497C 1.000 pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC ENSG00000096717 tier1 - - 87 0 0.00 47 10 17.54 SLC16A14 0 genome.wustl.edu 37 2 230911282 230911282 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 230911282 230911282 C T SNP SLC16A14 ENST00000295190 human ensembl 74_37 -1 known missense c.560 p.G187D 0.994 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 43 0 0.00 17 2 10.53 SLC17A6 0 genome.wustl.edu 37 11 22396367 22396367 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 11 22396367 22396367 G T SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.1108 p.A370S 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 tier1 - - 81 0 0.00 20 15 42.86 SLC20A2 0 genome.wustl.edu 37 8 42297137 42297137 + Silent SNP T T A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 8 42297137 42297137 T A SNP SLC20A2 ENST00000342228 human ensembl 74_37 -1 known silent c.765 p.V255 0.000 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A2 HGNC ENSG00000168575 tier1 - - 44 0 0.00 19 4 17.39 SLC39A12 0 genome.wustl.edu 37 10 18250587 18250587 + Missense_Mutation SNP A A T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 10 18250587 18250587 A T SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known missense c.339 p.R113S 1.000 NULL pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 tier1 - - 38 0 0.00 20 10 33.33 SLC41A3 0 genome.wustl.edu 37 3 125775343 125775343 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 3 125775343 125775343 C T SNP SLC41A3 ENST00000383598 human ensembl 74_37 -1 known missense c.53 p.R18Q 1.000 NULL pfam_SLC41_membr_dom - no_errors SLC41A3 HGNC ENSG00000114544 tier1 - - 36 0 0.00 38 4 9.52 SLC9C2 0 genome.wustl.edu 37 1 173504975 173504975 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 173504975 173504975 G T SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.1769 p.P590Q 0.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 tier1 - - 112 0 0.00 64 6 8.57 SMG1 0 genome.wustl.edu 37 16 18865097 18865097 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 16 18865097 18865097 G T SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known missense c.4576 p.L1526M 1.000 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 tier1 - - 51 0 0.00 26 3 10.34 SNORD116-18 0 genome.wustl.edu 37 15 25330543 25330543 + RNA SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 15 25330543 25330543 G A SNP SNORD116-18 ENST00000383961 human ensembl 74_37 +1 known rna NULL NULL 0.705 - - - no_errors SNORD116-18 HGNC ENSG00000206688 tier1 - - 143 0 0.00 83 8 8.70 SNPH 0 genome.wustl.edu 37 20 1277840 1277842 + In_Frame_Del DEL CAG CAG - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 20 1277840 1277842 CAG - DEL SNPH ENST00000381867 human ensembl 74_37 +1 known in_frame_del c.234_236 p.S82in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors SNPH HGNC ENSG00000101298 tier1 67 0 0.00 26 2 7.14 SNRNP200 0 genome.wustl.edu 37 2 96944361 96944361 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 96944361 96944361 G A SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known silent c.5412 p.I1804 0.052 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 30 0 0.00 12 2 14.29 SOGA2 0 genome.wustl.edu 37 18 8819135 8819135 + Frame_Shift_Del DEL A A - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 18 8819135 8819135 A - DEL SOGA2 ENST00000359865 human ensembl 74_37 +1 known frame_shift_del c.3034 p.K1012fs 1.000 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 tier1 75 0 0.00 13 2 13.33 SORT1 0 genome.wustl.edu 37 1 109898040 109898040 + Silent SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 109898040 109898040 G T SNP SORT1 ENST00000256637 human ensembl 74_37 -1 known silent c.492 p.T164 1.000 smart_VPS10 pfam_BNR_rpt,smart_VPS10 - no_errors SORT1 HGNC ENSG00000134243 tier1 - - 75 0 0.00 55 4 6.78 SPATC1 0 genome.wustl.edu 37 8 145095047 145095047 + Missense_Mutation SNP C C A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 8 145095047 145095047 C A SNP SPATC1 ENST00000377470 human ensembl 74_37 +1 known missense c.449 p.T150K 0.000 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 40 0 0.00 23 3 11.54 SSC5D 0 genome.wustl.edu 37 19 56001756 56001756 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 56001756 56001756 G A SNP SSC5D ENST00000389623 human ensembl 74_37 +1 known silent c.567 p.T189 0.000 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors SSC5D HGNC ENSG00000179954 tier1 - - 38 0 0.00 19 6 24.00 SSPO 0 genome.wustl.edu 37 7 149474897 149474897 + RNA SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 7 149474897 149474897 C T SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 29 0 0.00 18 3 14.29 SUFU 0 genome.wustl.edu 37 10 104356918 104356918 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 10 104356918 104356918 G A SNP SUFU ENST00000369902 human ensembl 74_37 +1 known missense c.778 p.E260K 1.000 pfam_SUFU_C,pirsf_Suppressor_of_fused_euk pfam_SUFU_C,pfam_SUFU-like_domain,pirsf_Suppressor_of_fused_euk - no_errors SUFU HGNC ENSG00000107882 tier1 - - 41 0 0.00 22 21 48.84 SUPT7L 0 genome.wustl.edu 37 2 27880464 27880464 + Silent SNP T T A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 27880464 27880464 T A SNP SUPT7L ENST00000337768 human ensembl 74_37 -1 known silent c.492 p.T164 0.875 pfam_BTP,smart_BTP pfam_BTP,smart_BTP - no_errors SUPT7L HGNC ENSG00000119760 tier1 - - 44 0 0.00 23 5 17.86 SYCP2 0 genome.wustl.edu 37 20 58496393 58496393 + Frame_Shift_Del DEL A A - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 20 58496393 58496393 A - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.140 p.F47fs 0.988 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 tier1 87 0 0.00 36 2 5.26 SYCP2L 0 genome.wustl.edu 37 6 10911079 10911079 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 6 10911079 10911079 G T SNP SYCP2L ENST00000283141 human ensembl 74_37 +1 known missense c.895 p.A299S 0.136 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 62 0 0.00 27 2 6.90 TBX5 0 genome.wustl.edu 37 12 114793522 114793522 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 114793522 114793522 G T SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.1372 p.Q458K 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 95 0 0.00 39 3 7.14 TCEB3 0 genome.wustl.edu 37 1 24078325 24078325 + Silent SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 24078325 24078325 C T SNP TCEB3 ENST00000418390 human ensembl 74_37 +1 known silent c.1308 p.Y436 1.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom - no_errors TCEB3 HGNC ENSG00000011007 tier1 - - 63 0 0.00 40 5 11.11 TCF3 0 genome.wustl.edu 37 19 1612273 1612273 + Silent SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 1612273 1612273 C T SNP TCF3 ENST00000344749 human ensembl 74_37 -1 known silent c.1746 p.A582 0.996 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF3 HGNC ENSG00000071564 tier1 - - 34 0 0.00 19 4 17.39 TENM1 0 genome.wustl.edu 37 X 123870827 123870827 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 X 123870827 123870827 G A SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known silent c.756 p.S252 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 tier1 - - 27 0 0.00 14 3 17.65 TESK2 0 genome.wustl.edu 37 1 45810676 45810676 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 45810676 45810676 G T SNP TESK2 ENST00000372086 human ensembl 74_37 -1 known missense c.1552 p.L518I 0.002 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK2 HGNC ENSG00000070759 32 0 0.00 14 2 12.50 TGS1 0 genome.wustl.edu 37 8 56737156 56737156 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 8 56737156 56737156 G T SNP TGS1 ENST00000260129 human ensembl 74_37 +1 known missense c.2456 p.G819V 1.000 pfam_RNA_cap_Gua-N2-MeTrfase pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TGS1 HGNC ENSG00000137574 127 0 0.00 67 4 5.63 THBS2 0 genome.wustl.edu 37 6 169622427 169622427 + Silent SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 6 169622427 169622427 C T SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known silent c.3138 p.T1046 0.064 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 tier1 - - 63 0 0.00 22 20 47.62 THRA 0 genome.wustl.edu 37 17 38233778 38233778 + Missense_Mutation SNP C C A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 17 38233778 38233778 C A SNP THRA ENST00000264637 human ensembl 74_37 +1 known missense c.139 p.L47M 1.000 prints_ThyrH_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRA HGNC ENSG00000126351 tier1 - - 47 0 0.00 45 4 8.16 TLK2 0 genome.wustl.edu 37 17 60679450 60679450 + Missense_Mutation SNP A A G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 17 60679450 60679450 A G SNP TLK2 ENST00000326270 human ensembl 74_37 +1 known missense c.1834 p.T612A 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 TLK2 HGNC ENSG00000146872 42 0 0.00 34 2 5.56 TMEM132D 0 genome.wustl.edu 37 12 129559152 129559152 + Silent SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 129559152 129559152 C T SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known silent c.2568 p.T856 0.002 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 45 0 0.00 23 2 8.00 TMEM215 0 genome.wustl.edu 37 9 32784359 32784359 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 9 32784359 32784359 G A SNP TMEM215 ENST00000342743 human ensembl 74_37 +1 known missense c.178 p.A60T 1.000 NULL NULL - no_errors TMEM215 HGNC ENSG00000188133 tier1 - - 40 0 0.00 23 3 11.54 TOMM40L 0 genome.wustl.edu 37 1 161200378 161200378 + RNA DEL A A - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 161200378 161200378 A - DEL TOMM40L ENST00000474486 human ensembl 74_37 +1 known rna NULL NULL 0.807 - - - no_errors TOMM40L HGNC ENSG00000158882 tier1 40 0 0.00 22 4 15.38 TONSL 0 genome.wustl.edu 37 8 145665514 145665514 + Missense_Mutation SNP C C A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 8 145665514 145665514 C A SNP TONSL ENST00000409379 human ensembl 74_37 -1 known missense c.1370 p.R457L 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 tier1 - - 80 0 0.00 56 6 9.68 TOX4 0 genome.wustl.edu 37 14 21961063 21961063 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 14 21961063 21961063 G A SNP TOX4 ENST00000262709 human ensembl 74_37 +1 known missense c.1288 p.A430T 0.968 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX4 HGNC ENSG00000092203 tier1 - - 50 0 0.00 20 4 16.67 TP53 0 genome.wustl.edu 37 17 7577515 7577517 + In_Frame_Del DEL TGA TGA - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 TGA TGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 17 7577515 7577517 TGA - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known in_frame_del c.766_764 p.I255in_frame_del 1.000:1.000:1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 45 0 0.00 13 17 56.67 TTN 0 genome.wustl.edu 37 2 179408974 179408974 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 179408974 179408974 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.88278 p.S29426 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 60 0 0.00 27 3 10.00 TTN 0 genome.wustl.edu 37 2 179460409 179460409 + Silent SNP A A G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 179460409 179460409 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.49968 p.R16656 0.353 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 92 0 0.00 37 4 9.76 TUBBP5 0 genome.wustl.edu 37 9 141069223 141069223 + RNA SNP T T C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 9 141069223 141069223 T C SNP TUBBP5 ENST00000503395 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors TUBBP5 HGNC ENSG00000159247 tier1 - - 51 0 0.00 28 3 9.68 ULBP1 0 genome.wustl.edu 37 6 150290442 150290442 + Missense_Mutation SNP A A G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 6 150290442 150290442 A G SNP ULBP1 ENST00000229708 human ensembl 74_37 +1 known missense c.571 p.K191E 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP1 HGNC ENSG00000111981 tier1 - - 65 0 0.00 20 3 13.04 UNC13B 0 genome.wustl.edu 37 9 35389883 35389883 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 9 35389883 35389883 G A SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.2888 p.R963Q 1.000 pfam_Ca-dep_secretion_activator pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 102 0 0.00 30 2 6.25 USP10 0 genome.wustl.edu 37 16 84793868 84793868 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 16 84793868 84793868 G T SNP USP10 ENST00000570191 human ensembl 74_37 +1 known missense c.1553 p.S518I 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67 - no_errors USP10 HGNC ENSG00000103194 tier1 - - 93 0 0.00 37 4 9.76 UTP14C 0 genome.wustl.edu 37 13 52603541 52603541 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 13 52603541 52603541 C T SNP UTP14C ENST00000521776 human ensembl 74_37 +1 known missense c.601 p.P201S 1.000 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC ENSG00000253797 tier1 - - 60 0 0.00 10 8 44.44 UTRN 0 genome.wustl.edu 37 6 144843168 144843168 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 6 144843168 144843168 C T SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.5594 p.S1865L 0.026 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 tier1 rs138139861 - 86 0 0.00 42 4 8.70 VPS9D1-AS1 0 genome.wustl.edu 37 16 89779185 89779185 + RNA SNP A A G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 16 89779185 89779185 A G SNP VPS9D1-AS1 ENST00000562866 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors VPS9D1-AS1 HGNC ENSG00000261373 tier1 - - 38 0 0.00 12 9 42.86 VSTM4 0 genome.wustl.edu 37 10 50255074 50255074 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 10 50255074 50255074 G A SNP VSTM4 ENST00000332853 human ensembl 74_37 -1 known missense c.791 p.T264M 0.029 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM4 HGNC ENSG00000165633 83 0 0.00 53 3 5.36 VWC2L-IT1 0 genome.wustl.edu 37 2 215398804 215398804 + RNA SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 2 215398804 215398804 C T SNP VWC2L-IT1 ENST00000416430 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors VWC2L-IT1 HGNC ENSG00000224257 tier1 - - 103 0 0.00 34 4 10.53 WDR1 0 genome.wustl.edu 37 4 10099383 10099383 + Nonsense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 4 10099383 10099383 G T SNP WDR1 ENST00000382452 human ensembl 74_37 -1 known nonsense c.510 p.C170* 0.488 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR1 HGNC ENSG00000071127 35 0 0.00 11 2 15.38 WDR60 0 genome.wustl.edu 37 7 158719119 158719119 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 7 158719119 158719119 G T SNP WDR60 ENST00000407559 human ensembl 74_37 +1 known missense c.2398 p.A800S 0.813 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 47 0 0.00 27 2 6.90 WNK1 0 genome.wustl.edu 37 12 977829 977829 + Silent SNP A A G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 977829 977829 A G SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known silent c.3192 p.G1064 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 tier1 - - 42 0 0.00 13 3 18.75 YARS2 0 genome.wustl.edu 37 12 32908126 32908126 + Missense_Mutation SNP T T C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 12 32908126 32908126 T C SNP YARS2 ENST00000324868 human ensembl 74_37 -1 known missense c.683 p.D228G 1.000 pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase - no_errors YARS2 HGNC ENSG00000139131 tier1 - - 62 0 0.00 40 28 41.18 ZFAND6 0 genome.wustl.edu 37 15 80412728 80412728 + Frame_Shift_Del DEL T T - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 15 80412728 80412728 T - DEL ZFAND6 ENST00000261749 human ensembl 74_37 +1 known frame_shift_del c.42 p.S15fs 1.000 pfam_Znf_A20,smart_Znf_A20,pfscan_Znf_A20 pfam_Znf_A20,pfam_Znf_AN1,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1 - no_errors ZFAND6 HGNC ENSG00000086666 tier1 53 0 0.00 18 2 10.00 ZFHX4 0 genome.wustl.edu 37 8 77766970 77766970 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 8 77766970 77766970 G T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.7813 p.D2605Y 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 47 0 0.00 40 4 9.09 ZFP69B 0 genome.wustl.edu 37 1 40929164 40929164 + Missense_Mutation SNP A A G TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 1 40929164 40929164 A G SNP ZFP69B ENST00000411995 human ensembl 74_37 +1 known missense c.1508 p.Y503C 0.025 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZFP69B HGNC ENSG00000187801 tier1 - - 48 0 0.00 30 9 23.08 ZIK1 0 genome.wustl.edu 37 19 58099931 58099931 + Missense_Mutation SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 58099931 58099931 G A SNP ZIK1 ENST00000597850 human ensembl 74_37 +1 known missense c.97 p.A33T 0.985 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIK1 HGNC ENSG00000171649 tier1 - - 106 0 0.00 50 4 7.41 ZNF226 0 genome.wustl.edu 37 19 44680327 44680327 + Silent SNP A A C TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 44680327 44680327 A C SNP ZNF226 ENST00000337433 human ensembl 74_37 +1 known silent c.912 p.G304 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 ZNF226 HGNC ENSG00000167380 tier1 - - 51 0 0.00 25 6 19.35 ZNF382 0 genome.wustl.edu 37 19 37117924 37117924 + Silent SNP G G A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 37117924 37117924 G A SNP ZNF382 ENST00000292928 human ensembl 74_37 +1 known silent c.1125 p.T375 0.995 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 ZNF382 HGNC ENSG00000161298 tier1 rs148103215 - 32 0 0.00 8 11 57.89 ZNF429 0 genome.wustl.edu 37 19 21720005 21720005 + Missense_Mutation SNP C C A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 21720005 21720005 C A SNP ZNF429 ENST00000358491 human ensembl 74_37 +1 novel missense c.1150 p.L384I 0.013 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 ZNF429 HGNC ENSG00000197013 tier1 - - 72 0 0.00 27 11 28.95 ZNF460 0 genome.wustl.edu 37 19 57803332 57803332 + Missense_Mutation SNP C C T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 57803332 57803332 C T SNP ZNF460 ENST00000360338 human ensembl 74_37 +1 known missense c.1423 p.P475S 0.971 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 ZNF460 HGNC ENSG00000197714 53 0 0.00 29 2 6.45 ZNF527 0 genome.wustl.edu 37 19 37879574 37879574 + Missense_Mutation SNP A A T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 37879574 37879574 A T SNP ZNF527 ENST00000436120 human ensembl 74_37 +1 known missense c.623 p.E208V 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF527 HGNC ENSG00000189164 38 0 0.00 28 4 12.50 ZNF585B 0 genome.wustl.edu 37 19 37677281 37677281 + Missense_Mutation SNP G G T TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 37677281 37677281 G T SNP ZNF585B ENST00000532828 human ensembl 74_37 -1 known missense c.1158 p.D386E 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF585B HGNC ENSG00000245680 70 0 0.00 38 2 5.00 ZNF616 0 genome.wustl.edu 37 19 52619961 52619961 + Missense_Mutation SNP C C A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 52619961 52619961 C A SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known missense c.456 p.Q152H 0.171 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 ZNF616 HGNC ENSG00000204611 78 0 0.00 36 2 5.26 ZNF668 0 genome.wustl.edu 37 16 31073108 31073108 + Nonsense_Mutation SNP T T A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 16 31073108 31073108 T A SNP ZNF668 ENST00000426488 human ensembl 74_37 -1 known nonsense c.1210 p.K404* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 tier1 - - 64 0 0.00 27 12 30.77 ZNF729 0 genome.wustl.edu 37 19 22499540 22499540 + Missense_Mutation SNP C C A TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 22499540 22499540 C A SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.3321 p.D1107E 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF729 HGNC ENSG00000196350 83 0 0.00 36 6 14.29 ZNF865 0 genome.wustl.edu 37 19 56127331 56127331 + Frame_Shift_Del DEL G G - TCGA-VR-A8EU-01A-11D-A36J-09 TCGA-VR-A8EU-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5edfed9c-9aa2-41ef-b467-1d8077bfaecb b064d16c-7950-44f2-9472-d9e11d8cd108 19 56127331 56127331 G - DEL ZNF865 ENST00000568956 human ensembl 74_37 +1 novel frame_shift_del c.2347 p.G784fs 0.006 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF865 HGNC ENSG00000261221 tier1 9 0 0.00 5 2 28.57