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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ADAD1 0 genome.wustl.edu 37 4 123332537 123332538 + Frame_Shift_Del DEL AA AA - TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 4 123332537 123332538 AA - DEL ADAD1 ENST00000296513 human ensembl 69_37n +1 known frame_shift_del c.1009_1010 p.K337fs 1.000:1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 66 0 0.00 85 32 26.89 - - - ADAM11 0 genome.wustl.edu 37 17 42850750 42850750 + Missense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 17 42850750 42850750 G A SNP ADAM11 ENST00000200557 human ensembl 69_37n +1 known missense c.947 p.R316Q 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM11 HGNC ENSG00000073670 29 0 0.00 16 21 56.76 - - - ANKRD12 0 genome.wustl.edu 37 18 9254875 9254875 + Missense_Mutation SNP A A G TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 18 9254875 9254875 A G SNP ANKRD12 ENST00000262126 human ensembl 69_37n +1 known missense c.1610 p.H537R 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD12 HGNC ENSG00000101745 20 0 0.00 18 14 43.75 - - - ANXA10 0 genome.wustl.edu 37 4 169085364 169085364 + Missense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 4 169085364 169085364 G A SNP ANXA10 ENST00000359299 human ensembl 69_37n +1 known missense c.325 p.E109K 0.994 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinX - no_errors ANXA10 HGNC ENSG00000109511 60 0 0.00 76 56 42.42 - - - APEX1 0 genome.wustl.edu 37 14 20924089 20924089 + Missense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 14 20924089 20924089 G A SNP APEX1 ENST00000554325 human ensembl 69_37n +1 known missense c.145 p.E49K 1.000 NULL NULL - no_errors APEX1 HGNC ENSG00000100823 71 0 0.00 42 7 14.29 - - - ARHGAP6 0 genome.wustl.edu 37 X 11206973 11206973 + Missense_Mutation SNP A A C TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 X 11206973 11206973 A C SNP ARHGAP6 ENST00000337414 human ensembl 69_37n -1 known missense c.952 p.F318V 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 126 0 0.00 114 38 25.00 - - - ARHGEF1 0 genome.wustl.edu 37 19 42399493 42399493 + Missense_Mutation SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 19 42399493 42399493 C T SNP ARHGEF1 ENST00000378152 human ensembl 69_37n +1 known missense c.895 p.P299S 0.001 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 77 0 0.00 37 7 15.91 - - - BACH2 0 genome.wustl.edu 37 6 90718472 90718472 + Missense_Mutation SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 6 90718472 90718472 C T SNP BACH2 ENST00000257749 human ensembl 69_37n -1 known missense c.92 p.R31Q 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold pfam_BTB_POZ,pfam_bZIP_1,pfam_bZIP_2,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 109 0 0.00 106 89 45.41 - - - BCORL1 0 genome.wustl.edu 37 X 129147257 129147259 + In_Frame_Del DEL AGA AGA - TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 X 129147257 129147259 AGA - DEL BCORL1 ENST00000303743 human ensembl 69_37n +1 known in_frame_del c.509_511 p.K171in_frame_del 0.988:0.981:0.995 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 104 0 0.00 52 9 14.52 - - - CACNA1C 0 genome.wustl.edu 37 12 2558201 2558201 + Silent SNP C C A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 12 2558201 2558201 C A SNP CACNA1C ENST00000399634 human ensembl 69_37n +1 known silent c.537 p.I179 0.997 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 79 0 0.00 97 25 20.49 - - - CAD 0 genome.wustl.edu 37 2 27445851 27445851 + Missense_Mutation SNP G G T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 2 27445851 27445851 G T SNP CAD ENST00000264705 human ensembl 69_37n +1 known missense c.755 p.C252F 1.000 pfam_GATASE_1,tigrfam_CarbamoylP_synth_ssu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf_euk,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf_euk - no_errors CAD HGNC ENSG00000084774 64 0 0.00 45 13 22.41 - - - CHD3 0 genome.wustl.edu 37 17 7808966 7808966 + Frame_Shift_Del DEL G G - TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 17 7808966 7808966 G - DEL CHD3 ENST00000330494 human ensembl 69_37n +1 known frame_shift_del c.4166 p.N1390fs 1.000 pfam_DUF1086 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 110 0 0.00 17 2 10.53 - - - CLDN17 0 genome.wustl.edu 37 21 31538298 31538298 + Missense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 21 31538298 31538298 G A SNP CLDN17 ENST00000286808 human ensembl 69_37n -1 known missense c.638 p.T213M 0.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8 - no_errors CLDN17 HGNC ENSG00000156282 151 0 0.00 73 143 66.20 - - - CLSTN2 0 genome.wustl.edu 37 3 139894828 139894828 + Missense_Mutation SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 3 139894828 139894828 C T SNP CLSTN2 ENST00000458420 human ensembl 69_37n +1 known missense c.145 p.H49Y 1.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 82 0 0.00 88 22 20.00 - - - COL11A1 0 genome.wustl.edu 37 1 103540280 103540280 + Missense_Mutation SNP C C A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 1 103540280 103540280 C A SNP COL11A1 ENST00000358392 human ensembl 69_37n -1 known missense c.545 p.C182F 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 102 0 0.00 178 95 34.67 - - - COL12A1 0 genome.wustl.edu 37 6 75893097 75893097 + Silent SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 6 75893097 75893097 G A SNP COL12A1 ENST00000322507 human ensembl 69_37n -1 known silent c.1560 p.G520 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 65 0 0.00 75 29 27.88 - - - CYSLTR1 0 genome.wustl.edu 37 X 77528896 77528896 + Silent SNP G G T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 X 77528896 77528896 G T SNP CYSLTR1 ENST00000373304 human ensembl 69_37n -1 known silent c.348 p.A116 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors CYSLTR1 HGNC ENSG00000173198 37 0 0.00 73 19 20.65 - - - DCAF8L2 0 genome.wustl.edu 37 X 27765411 27765411 + Silent SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 X 27765411 27765411 G A SNP DCAF8L2 ENST00000451261 human ensembl 69_37n +1 known silent c.399 p.E133 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 11 0 0.00 15 9 37.50 - - - DDX6 0 genome.wustl.edu 37 11 118629524 118629524 + Missense_Mutation SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 11 118629524 118629524 C T SNP DDX6 ENST00000264018 human ensembl 69_37n -1 known missense c.952 p.E318K 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX6 HGNC ENSG00000110367 72 0 0.00 114 19 14.29 - - - DGKK 0 genome.wustl.edu 37 X 50146532 50146532 + RNA SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 X 50146532 50146532 G A SNP DGKK ENST00000376025 human ensembl 69_37n -1 known rna NULL NULL 0.999 - - - no_errors DGKK HGNC ENSG00000204466 150 0 0.00 96 69 41.82 - - - DVL2 0 genome.wustl.edu 37 17 7129292 7129292 + Silent SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 17 7129292 7129292 G A SNP DVL2 ENST00000005340 human ensembl 69_37n -1 known silent c.2103 p.A701 0.931 pfam_Dishevelled_C-dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,prints_Dishevelled_2,prints_Dishevelled,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ - no_errors DVL2 HGNC ENSG00000004975 22 0 0.00 13 6 31.58 - - - DZIP1L 0 genome.wustl.edu 37 3 137807223 137807223 + Nonsense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 3 137807223 137807223 G A SNP DZIP1L ENST00000327532 human ensembl 69_37n -1 known nonsense c.997 p.Q333* 0.949 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 53 0 0.00 38 18 32.14 - - - EFR3B 0 genome.wustl.edu 37 2 25314227 25314227 + Missense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 2 25314227 25314227 G A SNP EFR3B ENST00000403714 human ensembl 69_37n +1 known missense c.41 p.R14K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3B HGNC ENSG00000084710 232 0 0.00 133 59 30.73 - - - ERICH1 0 genome.wustl.edu 37 8 614677 614677 + Splice_Site SNP C C G TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 8 614677 614677 C G SNP ERICH1 ENST00000262109 human ensembl 69_37n -1 known splice_site c.1259-1 e6-1 0.995 - - - no_errors ERICH1 HGNC ENSG00000104714 130 0 0.00 151 29 16.11 - - - FAM65C 0 genome.wustl.edu 37 20 49219050 49219050 + Silent SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 20 49219050 49219050 C T SNP FAM65C ENST00000535356 human ensembl 69_37n -1 known silent c.1218 p.E406 0.985 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 10 0 0.00 3 6 66.67 - - - FAM75A2 0 genome.wustl.edu 37 9 39890233 39890233 + Missense_Mutation SNP G G T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 9 39890233 39890233 G T SNP FAM75A2 ENST00000456183 human ensembl 69_37n +1 known missense c.3220 p.D1074Y 0.001 NULL NULL - no_errors FAM75A2 HGNC ENSG00000204848 13 0 0.00 9 5 35.71 - - - FANK1 0 genome.wustl.edu 37 10 127697978 127697978 + Nonsense_Mutation SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 10 127697978 127697978 C T SNP FANK1 ENST00000368693 human ensembl 69_37n +1 known nonsense c.1009 p.Q337* 0.014 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3,prints_Ankyrin_rpt - no_errors FANK1 HGNC ENSG00000203780 101 0 0.00 84 21 20.00 - - - FUT5 0 genome.wustl.edu 37 19 5866759 5866759 + Silent SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 19 5866759 5866759 G A SNP FUT5 ENST00000252675 human ensembl 69_37n -1 known silent c.978 p.H326 0.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT5 HGNC ENSG00000130383 21 0 0.00 49 24 32.88 - - - GBAP1 0 genome.wustl.edu 37 1 155187367 155187367 + RNA SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 1 155187367 155187367 C T SNP GBAP1 ENST00000486869 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GBAP1 HGNC ENSG00000160766 16 0 0.00 8 13 61.90 - - - GJA9 0 genome.wustl.edu 37 1 39341552 39341552 + Silent SNP G G T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 1 39341552 39341552 G T SNP GJA9 ENST00000357771 human ensembl 69_37n -1 known silent c.219 p.S73 1.000 pfam_Connexin_N,smart_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA9 HGNC ENSG00000131233 54 0 0.00 72 36 33.33 - - - GPR45 0 genome.wustl.edu 37 2 105859375 105859375 + Nonsense_Mutation SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 2 105859375 105859375 C T SNP GPR45 ENST00000258456 human ensembl 69_37n +1 known nonsense c.1060 p.R354* 0.960 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR45 HGNC ENSG00000135973 50 0 0.00 17 5 22.73 - - - GREM2 0 genome.wustl.edu 37 1 240656385 240656385 + Missense_Mutation SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 1 240656385 240656385 C T SNP GREM2 ENST00000318160 human ensembl 69_37n -1 known missense c.391 p.V131I 0.227 pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C - no_errors GREM2 HGNC ENSG00000180875 26 0 0.00 19 18 48.65 - - - HDAC5 0 genome.wustl.edu 37 17 42168760 42168760 + Missense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 17 42168760 42168760 G A SNP HDAC5 ENST00000225983 human ensembl 69_37n -1 known missense c.1268 p.S423F 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 11 0 0.00 11 5 31.25 - - - HOXA4 0 genome.wustl.edu 37 7 27168854 27168854 + Missense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 7 27168854 27168854 G A SNP HOXA4 ENST00000360046 human ensembl 69_37n -1 known missense c.953 p.S318F 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain - no_errors HOXA4 HGNC ENSG00000197576 150 0 0.00 120 94 43.93 - - - KCNQ1 0 genome.wustl.edu 37 11 2683237 2683237 + Missense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 11 2683237 2683237 G A SNP KCNQ1 ENST00000155840 human ensembl 69_37n +1 known missense c.1440 p.M480I 0.909 pfam_K_chnl_volt-dep_KCNQ_C,prints_K_chnl_volt-dep_KCQN1 pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ1 HGNC ENSG00000053918 33 0 0.00 60 12 16.67 - - - KIAA0196 0 genome.wustl.edu 37 8 126059486 126059486 + Nonsense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 8 126059486 126059486 G A SNP KIAA0196 ENST00000318410 human ensembl 69_37n -1 known nonsense c.2467 p.R823* 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 104 0 0.00 120 27 18.24 - - - KIAA0226 0 genome.wustl.edu 37 3 197402344 197402344 + Missense_Mutation SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 3 197402344 197402344 C T SNP KIAA0226 ENST00000296343 human ensembl 69_37n -1 known missense c.2689 p.E897K 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC ENSG00000145016 76 0 0.00 61 13 17.57 - - - L1TD1 0 genome.wustl.edu 37 1 62672320 62672320 + Missense_Mutation SNP G G T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 1 62672320 62672320 G T SNP L1TD1 ENST00000498273 human ensembl 69_37n +1 known missense c.20 p.S7I 0.000 NULL pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 9 0 0.00 14 11 44.00 - - - LANCL2 0 genome.wustl.edu 37 7 55466215 55466215 + Missense_Mutation SNP A A G TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 7 55466215 55466215 A G SNP LANCL2 ENST00000254770 human ensembl 69_37n +1 known missense c.422 p.N141S 0.993 pfam_LANC-like,superfamily_6-hairpin_glycosidase-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL2 HGNC ENSG00000132434 35 0 0.00 41 17 29.31 - - - LCK 0 genome.wustl.edu 37 1 32742227 32742227 + Silent SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 1 32742227 32742227 G A SNP LCK ENST00000333070 human ensembl 69_37n +1 known silent c.804 p.T268 0.909 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LCK HGNC ENSG00000182866 40 0 0.00 45 17 27.42 - - - LRIG1 0 genome.wustl.edu 37 3 66433747 66433747 + Missense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 3 66433747 66433747 G A SNP LRIG1 ENST00000273261 human ensembl 69_37n -1 known missense c.2150 p.T717M 0.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG1 HGNC ENSG00000144749 33 0 0.00 33 11 25.00 - - - MAGEB18 0 genome.wustl.edu 37 X 26157853 26157853 + Silent SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 X 26157853 26157853 C T SNP MAGEB18 ENST00000325250 human ensembl 69_37n +1 known silent c.751 p.L251 0.406 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB18 HGNC ENSG00000176774 73 0 0.00 102 71 41.04 - - - MAPK13 0 genome.wustl.edu 37 6 36106757 36106757 + Missense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 6 36106757 36106757 G A SNP MAPK13 ENST00000211287 human ensembl 69_37n +1 known missense c.943 p.E315K 1.000 superfamily_Kinase-like_dom,prints_MAPK_p38 pfam_Prot_kinase_cat_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_cat_dom,prints_MAPK_p38,prints_MAPK_JNK - no_errors MAPK13 HGNC ENSG00000156711 119 0 0.00 52 11 17.46 - - - MAPT 0 genome.wustl.edu 37 17 44073872 44073872 + Missense_Mutation SNP G G C TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 17 44073872 44073872 G C SNP MAPT ENST00000344290 human ensembl 69_37n +1 known missense c.1669 p.E557Q 1.000 prints_Tau_protein pfam_Tau/MAP_tubulin-bd_rpt,prints_Tau_protein - no_errors MAPT HGNC ENSG00000186868 9 0 0.00 2 7 77.78 - - - MICALCL 0 genome.wustl.edu 37 11 12371384 12371384 + Splice_Site SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 11 12371384 12371384 G A SNP MICALCL ENST00000256186 human ensembl 69_37n +1 known splice_site c.1730-1 e6-1 1.000 - - - no_errors MICALCL HGNC ENSG00000133808 51 0 0.00 55 21 27.63 - - - MUC4 0 genome.wustl.edu 37 3 195511643 195511643 + Missense_Mutation SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 3 195511643 195511643 C T SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.6808 p.A2270T 0.002 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 15 0 0.00 1295 185 12.45 - - - MYH8 0 genome.wustl.edu 37 17 10307784 10307784 + Missense_Mutation SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 17 10307784 10307784 C T SNP MYH8 ENST00000403437 human ensembl 69_37n -1 known missense c.2551 p.E851K 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 69 0 0.00 133 67 33.50 - - - NASP 0 genome.wustl.edu 37 1 46079800 46079800 + Missense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 1 46079800 46079800 G A SNP NASP ENST00000531612 human ensembl 69_37n +1 putative missense c.113 p.G38E 0.995 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NASP HGNC ENSG00000132780 118 0 0.00 148 21 12.35 - - - NDUFB5 0 genome.wustl.edu 37 3 179322679 179322679 + Missense_Mutation SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 3 179322679 179322679 C T SNP NDUFB5 ENST00000259037 human ensembl 69_37n +1 known missense c.76 p.R26C 0.000 pfam_NADH_UbQ_OxRdtase_B5_su pfam_NADH_UbQ_OxRdtase_B5_su - no_errors NDUFB5 HGNC ENSG00000136521 43 0 0.00 51 20 28.17 - - - NDUFS8 0 genome.wustl.edu 37 11 67803732 67803732 + Missense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 11 67803732 67803732 G A SNP NDUFS8 ENST00000313468 human ensembl 69_37n +1 known missense c.385 p.E129K 1.000 tigrfam_NADH_quinone_OxRdtase_chainI pfam_4Fe4S-bd_dom,tigrfam_NADH_quinone_OxRdtase_chainI - no_errors NDUFS8 HGNC ENSG00000110717 12 0 0.00 18 7 28.00 - - - NEDD4L 0 genome.wustl.edu 37 18 56054707 56054707 + Missense_Mutation SNP A A C TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 18 56054707 56054707 A C SNP NEDD4L ENST00000400345 human ensembl 69_37n +1 known missense c.2524 p.I842L 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP,prints_C2_dom - no_errors NEDD4L HGNC ENSG00000049759 73 0 0.00 40 6 13.04 - - - NLRX1 0 genome.wustl.edu 37 11 119043070 119043070 + Missense_Mutation SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 11 119043070 119043070 C T SNP NLRX1 ENST00000292199 human ensembl 69_37n +1 known missense c.76 p.R26C 0.001 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 128 0 0.00 124 24 16.22 - - - OR1I1 0 genome.wustl.edu 37 19 15198028 15198028 + Missense_Mutation SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 19 15198028 15198028 C T SNP OR1I1 ENST00000209540 human ensembl 69_37n +1 known missense c.152 p.T51M 0.001 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR1I1 HGNC ENSG00000094661 341 0 0.00 285 66 18.75 - - - OR6C74 0 genome.wustl.edu 37 12 55641891 55641891 + Silent SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 12 55641891 55641891 C T SNP OR6C74 ENST00000343870 human ensembl 69_37n +1 known silent c.820 p.L274 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6C74 HGNC ENSG00000197706 25 0 0.00 28 11 28.21 - - - OTOP2 0 genome.wustl.edu 37 17 72926997 72926997 + Missense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 17 72926997 72926997 G A SNP OTOP2 ENST00000331427 human ensembl 69_37n +1 known missense c.1267 p.E423K 1.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP2 HGNC ENSG00000183034 69 0 0.00 29 18 38.30 - - - PARD3 0 genome.wustl.edu 37 10 34649154 34649154 + Missense_Mutation SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 10 34649154 34649154 C T SNP PARD3 ENST00000374789 human ensembl 69_37n -1 known missense c.1741 p.D581N 1.000 superfamily_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 50 0 0.00 55 26 32.10 - - - PNN 0 genome.wustl.edu 37 14 39648302 39648302 + Missense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 14 39648302 39648302 G A SNP PNN ENST00000216832 human ensembl 69_37n +1 known missense c.506 p.R169Q 1.000 pfam_Pinin_SDK_MemA pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA - no_errors PNN HGNC ENSG00000100941 45 0 0.00 45 19 29.23 - - - PPA2 0 genome.wustl.edu 37 4 106395125 106395125 + Missense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 4 106395125 106395125 G A SNP PPA2 ENST00000357415 human ensembl 69_37n -1 known missense c.83 p.S28L 0.012 NULL pfam_Pyrophosphatase,superfamily_Pyrophosphatase - no_errors PPA2 HGNC ENSG00000138777 8 0 0.00 7 6 46.15 - - - PPHLN1 0 genome.wustl.edu 37 12 42778795 42778796 + Frame_Shift_Del DEL AG AG - TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 12 42778795 42778796 AG - DEL PPHLN1 ENST00000395568 human ensembl 69_37n +1 known frame_shift_del c.565_566 p.D190fs 1.000:1.000 NULL NULL - no_errors PPHLN1 HGNC ENSG00000134283 76 0 0.00 133 15 10.14 - - - PRR23B 0 genome.wustl.edu 37 3 138739098 138739098 + Missense_Mutation SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 3 138739098 138739098 C T SNP PRR23B ENST00000329447 human ensembl 69_37n -1 known missense c.406 p.V136I 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC ENSG00000184814 51 0 0.00 41 27 39.71 - - - PTPN18 0 genome.wustl.edu 37 2 131127382 131127382 + Silent SNP C C A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 2 131127382 131127382 C A SNP PTPN18 ENST00000175756 human ensembl 69_37n +1 known silent c.528 p.L176 0.085 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN18 HGNC ENSG00000072135 107 0 0.00 65 24 26.97 - - - RAB10 0 genome.wustl.edu 37 2 26350787 26350787 + Silent SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 2 26350787 26350787 G A SNP RAB10 ENST00000264710 human ensembl 69_37n +1 known silent c.486 p.A162 0.947 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB10 HGNC ENSG00000084733 89 0 0.00 129 31 19.38 - - - RPS6KA3 0 genome.wustl.edu 37 X 20212321 20212321 + Missense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 X 20212321 20212321 G A SNP RPS6KA3 ENST00000379565 human ensembl 69_37n -1 known missense c.472 p.R158C 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA3 HGNC ENSG00000177189 31 0 0.00 160 34 17.53 - - - RRBP1 0 genome.wustl.edu 37 20 17639816 17639816 + Missense_Mutation SNP T T G TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 20 17639816 17639816 T G SNP RRBP1 ENST00000246043 human ensembl 69_37n -1 known missense c.1337 p.Q446P 0.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 10 0 0.00 8 6 42.86 - - - RYR2 0 genome.wustl.edu 37 1 237675055 237675055 + Missense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 1 237675055 237675055 G A SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.2780 p.R927H 1.000 pfam_Ryanodine_rcpt pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 68 0 0.00 76 13 14.61 - - - SCAMP1 0 genome.wustl.edu 37 5 77717661 77717661 + RNA SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 5 77717661 77717661 G A SNP SCAMP1 ENST00000320280 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SCAMP1 HGNC ENSG00000085365 330 0 0.00 213 48 18.39 - - - SDE2 0 genome.wustl.edu 37 1 226180127 226180127 + Silent SNP A A G TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 1 226180127 226180127 A G SNP SDE2 ENST00000272091 human ensembl 69_37n -1 known silent c.492 p.A164 0.003 NULL superfamily_Mopterin_synth/thiamin_S_b - no_errors SDE2 HGNC ENSG00000143751 73 0 0.00 46 21 31.34 - - - SLC4A5 0 genome.wustl.edu 37 2 74474339 74474339 + Missense_Mutation SNP A A G TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 2 74474339 74474339 A G SNP SLC4A5 ENST00000357822 human ensembl 69_37n -1 known missense c.1883 p.I628T 1.000 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 73 0 0.00 74 29 28.16 - - - SPATS1 0 genome.wustl.edu 37 6 44337846 44337846 + Missense_Mutation SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 6 44337846 44337846 C T SNP SPATS1 ENST00000288390 human ensembl 69_37n +1 known missense c.754 p.P252S 0.847 NULL NULL - no_errors SPATS1 HGNC ENSG00000249481 98 0 0.00 222 48 17.78 - - - SPRY1 0 genome.wustl.edu 37 4 124323620 124323620 + Missense_Mutation SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 4 124323620 124323620 C T SNP SPRY1 ENST00000339241 human ensembl 69_37n +1 known missense c.874 p.R292C 0.941 pfam_Sprouty pfam_Sprouty - no_errors SPRY1 HGNC ENSG00000164056 71 0 0.00 54 51 48.57 - - - SYNGAP1 0 genome.wustl.edu 37 6 33403296 33403296 + Missense_Mutation SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 6 33403296 33403296 C T SNP SYNGAP1 ENST00000418600 human ensembl 69_37n +1 known missense c.668 p.T223I 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 217 1 0.46 73 15 17.05 - - - TEK 0 genome.wustl.edu 37 9 27183605 27183605 + Silent SNP C C G TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 9 27183605 27183605 C G SNP TEK ENST00000380036 human ensembl 69_37n +1 known silent c.1179 p.L393 0.050 pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 19 0 0.00 45 12 21.05 - - - TP53 0 genome.wustl.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G C TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 17 7577094 7577094 G C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.844 p.R282G 0.997 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 204 0 0.00 23 39 62.90 - - - TPD52L2 0 genome.wustl.edu 37 20 62505106 62505106 + Missense_Mutation SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 20 62505106 62505106 C T SNP TPD52L2 ENST00000217121 human ensembl 69_37n +1 known missense c.251 p.S84F 0.833 pfam_TPD52 pfam_TPD52 - no_errors TPD52L2 HGNC ENSG00000101150 35 0 0.00 13 20 60.61 - - - TXLNA 0 genome.wustl.edu 37 1 32647073 32647073 + Missense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 1 32647073 32647073 G A SNP TXLNA ENST00000373609 human ensembl 69_37n +1 known missense c.400 p.E134K 1.000 NULL pfam_Taxilin - no_errors TXLNA HGNC ENSG00000084652 37 0 0.00 21 4 16.00 - - - VCAN 0 genome.wustl.edu 37 5 82817555 82817555 + Missense_Mutation SNP G G T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 5 82817555 82817555 G T SNP VCAN ENST00000265077 human ensembl 69_37n +1 known missense c.3430 p.G1144C 0.547 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 25 0 0.00 16 12 42.86 - - - WDR85 0 genome.wustl.edu 37 9 140449871 140449871 + Silent SNP C C T TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 9 140449871 140449871 C T SNP WDR85 ENST00000277540 human ensembl 69_37n -1 known silent c.1179 p.Q393 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR85 HGNC ENSG00000148399 43 0 0.00 136 39 22.29 - - - ZNF551 0 genome.wustl.edu 37 19 58197960 58197960 + Frame_Shift_Del DEL T T - TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 19 58197960 58197960 T - DEL ZNF551 ENST00000356715 human ensembl 69_37n +1 known frame_shift_del c.317 p.K107fs 0.004 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 ZNF551 HGNC ENSG00000204519 67 0 0.00 48 6 11.11 - - - ZNF551 0 genome.wustl.edu 37 19 58197963 58197966 + Frame_Shift_Del DEL AGAT AGAT - TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 AGAT AGAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 19 58197963 58197966 AGAT - DEL ZNF551 ENST00000356715 human ensembl 69_37n +1 known frame_shift_del c.320_323 p.K107fs 0.008:0.003:0.003:0.025 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 ZNF551 HGNC ENSG00000204519 67 0 0.00 45 6 11.76 - - - ZNF563 0 genome.wustl.edu 37 19 12429836 12429836 + Nonsense_Mutation SNP G G A TCGA-D8-A1XJ-01A-11D-A14K-09 TCGA-D8-A1XJ-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a37b27a2-c3b0-4f62-82a2-94e9205b1d6e bb7de09d-aefe-45f2-8e12-7af57c30cbf4 19 12429836 12429836 G A SNP ZNF563 ENST00000293725 human ensembl 69_37n -1 known nonsense c.1003 p.R335* 0.976 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 ZNF563 HGNC ENSG00000188868 119 0 0.00 182 104 36.36 - - -