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 AKAP13 0 genome.wustl.edu 37 15 86122377 86122377 + Missense_Mutation SNP G G A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 15 86122377 86122377 G A SNP AKAP13 ENST00000361243 human ensembl 69_37n +1 known missense c.1078 p.V360I 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 142 0 0.00 144 46 24.21 - - - AQP10 0 genome.wustl.edu 37 1 154295794 154295794 + Missense_Mutation SNP C C A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 1 154295794 154295794 C A SNP AQP10 ENST00000324978 human ensembl 69_37n +1 known missense c.448 p.P150T 1.000 pfam_MIP,superfamily_Aquaporin-like,tigrfam_Aquaporin pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_Aquaporin - no_errors AQP10 HGNC ENSG00000143595 79 0 0.00 66 18 21.43 - - - ARHGEF40 0 genome.wustl.edu 37 14 21549827 21549828 + Frame_Shift_Ins INS - - A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 14 21549827 21549828 - A INS ARHGEF40 ENST00000298694 human ensembl 69_37n +1 known frame_shift_ins c.2800_2801 p.A934fs 0.989:0.985 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 13 0 0.00 15 24 61.54 - - - ATG13 0 genome.wustl.edu 37 11 46686403 46686403 + Nonsense_Mutation SNP C C A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 11 46686403 46686403 C A SNP ATG13 ENST00000312040 human ensembl 69_37n +1 known nonsense c.794 p.S265* 1.000 NULL pfam_Autophagy-rel_p13 - no_errors ATG13 HGNC ENSG00000175224 119 0 0.00 80 44 35.48 - - - ATP1A3 0 genome.wustl.edu 37 19 42482824 42482824 + Missense_Mutation SNP C C T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 19 42482824 42482824 C T SNP ATP1A3 ENST00000545399 human ensembl 69_37n -1 known missense c.1603 p.E535K 0.997 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A3 HGNC ENSG00000105409 56 0 0.00 33 9 20.93 - - - ATP7A 0 genome.wustl.edu 37 X 77268498 77268499 + In_Frame_Ins INS - - CTA TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f X 77268498 77268499 - CTA INS ATP7A ENST00000341514 human ensembl 69_37n +1 known in_frame_ins c.2295_2296 p.766in_frame_insL 0.998:1.000 tigrfam_ATPase_P-typ_heavy-metal pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 237 0 0.00 200 58 22.48 - - - BAI1 0 genome.wustl.edu 37 8 143558834 143558835 + Frame_Shift_Ins INS - - C TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 8 143558834 143558835 - C INS BAI1 ENST00000323289 human ensembl 69_37n +1 known frame_shift_ins c.1311_1312 p.Q439fs 0.955:1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 10 0 0.00 4 2 33.33 - - - BCL3 0 genome.wustl.edu 37 19 45259541 45259541 + Missense_Mutation SNP G G T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 19 45259541 45259541 G T SNP BCL3 ENST00000164227 human ensembl 69_37n +1 known missense c.463 p.V155F 0.031 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors BCL3 HGNC ENSG00000069399 21 0 0.00 13 4 23.53 - - - BCOR 0 genome.wustl.edu 37 X 39933528 39933528 + Missense_Mutation SNP G G T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f X 39933528 39933528 G T SNP BCOR ENST00000378444 human ensembl 69_37n -1 known missense c.1071 p.F357L 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 21 0 0.00 12 8 40.00 - - - BEST2 0 genome.wustl.edu 37 19 12868799 12868800 + Frame_Shift_Ins INS - - T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 19 12868799 12868800 - T INS BEST2 ENST00000042931 human ensembl 69_37n +1 known frame_shift_ins c.1438_1439 p.P480fs 0.157:0.129 NULL pfam_Bestrophin/UPF0187 - no_errors BEST2 HGNC ENSG00000039987 13 0 0.00 1 6 85.71 - - - C11orf24 0 genome.wustl.edu 37 11 68029197 68029197 + Silent SNP C C G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 11 68029197 68029197 C G SNP C11orf24 ENST00000304271 human ensembl 69_37n -1 known silent c.1266 p.L422 0.935 NULL NULL - no_errors C11orf24 HGNC ENSG00000171067 35 0 0.00 28 79 73.83 - - - C19orf10 0 genome.wustl.edu 37 19 4668614 4668614 + Missense_Mutation SNP G G T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 19 4668614 4668614 G T SNP C19orf10 ENST00000262947 human ensembl 69_37n -1 known missense c.218 p.T73N 1.000 pfam_UPF0556 pfam_UPF0556 - no_errors C19orf10 HGNC ENSG00000074842 10 0 0.00 10 4 28.57 - - - CERCAM 0 genome.wustl.edu 37 9 131198073 131198074 + Frame_Shift_Ins INS - - G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 9 131198073 131198074 - G INS CERCAM ENST00000372838 human ensembl 69_37n +1 known frame_shift_ins c.1677_1678 p.R560fs 0.254:0.996 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 8 0 0.00 11 19 63.33 - - - CHD9 0 genome.wustl.edu 37 16 53191289 53191289 + Missense_Mutation SNP C C G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 16 53191289 53191289 C G SNP CHD9 ENST00000398510 human ensembl 69_37n +1 known missense c.1288 p.H430D 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 65 0 0.00 28 9 24.32 - - - CHRNA6 0 genome.wustl.edu 37 8 42611543 42611543 + Missense_Mutation SNP C C A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 8 42611543 42611543 C A SNP CHRNA6 ENST00000276410 human ensembl 69_37n -1 known missense c.799 p.D267Y 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA6 HGNC ENSG00000147434 166 0 0.00 76 40 34.19 - - - CHST12 0 genome.wustl.edu 37 7 2473033 2473033 + Silent SNP C C T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 7 2473033 2473033 C T SNP CHST12 ENST00000258711 human ensembl 69_37n +1 known silent c.759 p.S253 0.076 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST12 HGNC ENSG00000136213 49 0 0.00 36 6 14.29 - - - CNTN5 0 genome.wustl.edu 37 11 100211931 100211931 + Silent SNP T T A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 11 100211931 100211931 T A SNP CNTN5 ENST00000279463 human ensembl 69_37n +1 known silent c.3024 p.G1008 0.523 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN5 HGNC ENSG00000149972 240 0 0.00 208 195 48.39 - - - COL4A4 0 genome.wustl.edu 37 2 227872836 227872836 + Silent SNP G G A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 2 227872836 227872836 G A SNP COL4A4 ENST00000396625 human ensembl 69_37n -1 known silent c.4707 p.C1569 0.111 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 24 0 0.00 3 8 72.73 - - - CYP2A13 0 genome.wustl.edu 37 19 41600885 41600885 + Missense_Mutation SNP C C A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 19 41600885 41600885 C A SNP CYP2A13 ENST00000330436 human ensembl 69_37n +1 known missense c.1183 p.L395M 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 126 0 0.00 98 58 37.18 - - - DCTN4 0 genome.wustl.edu 37 5 150110686 150110686 + Missense_Mutation SNP T T G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 5 150110686 150110686 T G SNP DCTN4 ENST00000446090 human ensembl 69_37n -1 known missense c.665 p.K222T 1.000 pfam_Dynactin_p62 pfam_Dynactin_p62 - no_errors DCTN4 HGNC ENSG00000132912 145 0 0.00 148 55 27.09 - - - DOCK11 0 genome.wustl.edu 37 X 117758501 117758501 + Splice_Site SNP G G A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f X 117758501 117758501 G A SNP DOCK11 ENST00000276202 human ensembl 69_37n +1 known splice_site c.3472-1 e32-1 1.000 - - - no_errors DOCK11 HGNC ENSG00000147251 342 0 0.00 363 97 21.09 - - - DSP 0 genome.wustl.edu 37 6 7576652 7576652 + Missense_Mutation SNP A A T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 6 7576652 7576652 A T SNP DSP ENST00000379802 human ensembl 69_37n +1 known missense c.2756 p.D919V 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 72 0 0.00 47 34 41.98 - - - EPHB1 0 genome.wustl.edu 37 3 134885809 134885809 + Missense_Mutation SNP G G A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 3 134885809 134885809 G A SNP EPHB1 ENST00000398015 human ensembl 69_37n +1 known missense c.1720 p.V574M 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB1 HGNC ENSG00000154928 246 0 0.00 129 53 29.12 - - - ESD 0 genome.wustl.edu 37 13 47354159 47354159 + Missense_Mutation SNP C C G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 13 47354159 47354159 C G SNP ESD ENST00000378720 human ensembl 69_37n -1 known missense c.511 p.A171P 1.000 pfam_Esterase_put,pfam_Peptidase_S9,tigrfam_S-formylglutathione_hydrol pfam_Esterase_put,pfam_Peptidase_S9,pfam_AXE1,tigrfam_S-formylglutathione_hydrol - no_errors ESD HGNC ENSG00000139684 113 0 0.00 173 76 30.52 - - - ETFB 0 genome.wustl.edu 37 19 51857488 51857488 + Silent SNP G G A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 19 51857488 51857488 G A SNP ETFB ENST00000354232 human ensembl 69_37n -1 known silent c.405 p.I135 0.961 pfam_ETF_a/b_N,smart_ETF_a/b_N pfam_ETF_a/b_N,smart_ETF_a/b_N - no_errors ETFB HGNC ENSG00000105379 40 0 0.00 25 37 58.73 - - - EYS 0 genome.wustl.edu 37 6 66205226 66205226 + Frame_Shift_Del DEL C C - TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 6 66205226 66205226 C - DEL EYS ENST00000370616 human ensembl 69_37n -1 known frame_shift_del c.78 p.Q27fs 0.000 NULL pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 89 0 0.00 87 34 27.64 - - - FAM92A1 0 genome.wustl.edu 37 8 94738722 94738722 + Missense_Mutation SNP G G T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 8 94738722 94738722 G T SNP FAM92A1 ENST00000518322 human ensembl 69_37n +1 known missense c.758 p.C253F 0.993 NULL pfam_FAM92 - no_errors FAM92A1 HGNC ENSG00000188343 57 0 0.00 61 32 34.41 - - - FAT3 0 genome.wustl.edu 37 11 92087136 92087136 + Nonsense_Mutation SNP G G T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 11 92087136 92087136 G T SNP FAT3 ENST00000298047 human ensembl 69_37n +1 known nonsense c.1858 p.E620* 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT3 HGNC ENSG00000165323 91 0 0.00 53 12 18.46 - - - FERMT1 0 genome.wustl.edu 37 20 6088271 6088271 + Missense_Mutation SNP A A G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 20 6088271 6088271 A G SNP FERMT1 ENST00000217289 human ensembl 69_37n -1 known missense c.757 p.S253P 1.000 pfam_FERM_N,smart_Band_41_domain pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT1 HGNC ENSG00000101311 41 0 0.00 41 22 34.92 - - - FGF6 0 genome.wustl.edu 37 12 4554431 4554431 + Silent SNP G G C TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 12 4554431 4554431 G C SNP FGF6 ENST00000228837 human ensembl 69_37n -1 known silent c.306 p.P102 0.995 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF6 HGNC ENSG00000111241 38 0 0.00 17 9 34.62 - - - FLG 0 genome.wustl.edu 37 1 152279089 152279089 + Missense_Mutation SNP C C A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 1 152279089 152279089 C A SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.8273 p.S2758I 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 196 0 0.00 172 23 11.79 - - - FLG 0 genome.wustl.edu 37 1 152281708 152281708 + Missense_Mutation SNP T T C TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 1 152281708 152281708 T C SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.5654 p.H1885R 0.001 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 239 1 0.41 101 38 27.34 - - - GCKR 0 genome.wustl.edu 37 2 27721130 27721131 + Frame_Shift_Ins INS - - G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 2 27721130 27721131 - G INS GCKR ENST00000264717 human ensembl 69_37n +1 known frame_shift_ins c.294_295 p.L100fs 0.653:0.982 NULL NULL - no_errors GCKR HGNC ENSG00000084734 36 0 0.00 30 4 11.76 - - - GLT25D2 0 genome.wustl.edu 37 1 183944313 183944313 + Missense_Mutation SNP G G T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 1 183944313 183944313 G T SNP GLT25D2 ENST00000361927 human ensembl 69_37n -1 known missense c.410 p.P137Q 1.000 NULL pfam_Glyco_trans_25 - no_errors GLT25D2 HGNC ENSG00000198756 60 0 0.00 85 15 15.00 - - - GRAMD1C 0 genome.wustl.edu 37 3 113595081 113595081 + Missense_Mutation SNP A A T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 3 113595081 113595081 A T SNP GRAMD1C ENST00000358160 human ensembl 69_37n +1 known missense c.433 p.I145F 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1C HGNC ENSG00000178075 185 0 0.00 171 73 29.92 - - - HRNR 0 genome.wustl.edu 37 1 152186699 152186699 + Missense_Mutation SNP T T A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 1 152186699 152186699 T A SNP HRNR ENST00000368801 human ensembl 69_37n -1 known missense c.7406 p.Q2469L 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 30 0 0.00 27 5 15.62 - - - ITGA10 0 genome.wustl.edu 37 1 145527997 145527998 + Frame_Shift_Ins INS - - G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 1 145527997 145527998 - G INS ITGA10 ENST00000369304 human ensembl 69_37n +1 known frame_shift_ins c.234_235 p.A80fs 0.998:1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 23 0 0.00 29 4 12.12 - - - ITGB4 0 genome.wustl.edu 37 17 73736913 73736913 + Missense_Mutation SNP C C G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 17 73736913 73736913 C G SNP ITGB4 ENST00000200181 human ensembl 69_37n +1 known missense c.2590 p.L864V 0.994 pirsf_Integrin_bsu-4 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_Integrin_bsu - no_errors ITGB4 HGNC ENSG00000132470 25 0 0.00 19 6 24.00 - - - KCNG4 0 genome.wustl.edu 37 16 84271027 84271027 + Missense_Mutation SNP G G A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 16 84271027 84271027 G A SNP KCNG4 ENST00000308251 human ensembl 69_37n -1 known missense c.65 p.P22L 0.991 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG4 HGNC ENSG00000168418 45 0 0.00 15 4 21.05 - - - KCNK2 0 genome.wustl.edu 37 1 215259971 215259971 + Missense_Mutation SNP A A G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 1 215259971 215259971 A G SNP KCNK2 ENST00000444842 human ensembl 69_37n +1 known missense c.307 p.I103V 1.000 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC ENSG00000082482 160 0 0.00 164 120 42.25 - - - KIAA0408 0 genome.wustl.edu 37 6 127765377 127765377 + Nonstop_Mutation SNP A A G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 6 127765377 127765377 A G SNP KIAA0408 ENST00000465254 human ensembl 69_37n -1 putative nonstop c.265 p.*89Q 0.908 NULL NULL - no_start_codon KIAA0408 HGNC ENSG00000189367 77 0 0.00 71 21 22.83 - - - KIAA1614 0 genome.wustl.edu 37 1 180905471 180905471 + Missense_Mutation SNP C C A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 1 180905471 180905471 C A SNP KIAA1614 ENST00000367588 human ensembl 69_37n +1 known missense c.2426 p.T809N 0.989 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 72 0 0.00 53 18 25.35 - - - KIR2DS4 0 genome.wustl.edu 37 19 55351148 55351148 + Silent SNP G G A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 19 55351148 55351148 G A SNP KIR2DS4 ENST00000339924 human ensembl 69_37n +1 known silent c.636 p.P212 0.078 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIR2DS4 HGNC ENSG00000221957 262 0 0.00 133 198 59.64 - - - KLC4 0 genome.wustl.edu 37 6 43039931 43039931 + Missense_Mutation SNP C C T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 6 43039931 43039931 C T SNP KLC4 ENST00000259708 human ensembl 69_37n +1 known missense c.1480 p.R494C 1.000 smart_TPR_repeat pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC4 HGNC ENSG00000137171 68 0 0.00 42 13 23.64 - - - KRTAP1-5 0 genome.wustl.edu 37 17 39182972 39182972 + Missense_Mutation SNP G G C TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 17 39182972 39182972 G C SNP KRTAP1-5 ENST00000361883 human ensembl 69_37n -1 known missense c.436 p.L146V 1.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-5 HGNC ENSG00000221852 43 0 0.00 10 13 56.52 - - - KRTAP10-9 0 genome.wustl.edu 37 21 46047456 46047456 + Missense_Mutation SNP A A C TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 21 46047456 46047456 A C SNP KRTAP10-9 ENST00000397911 human ensembl 69_37n +1 known missense c.368 p.Q123P 0.998 NULL NULL - no_errors KRTAP10-9 HGNC ENSG00000221837 164 0 0.00 105 16 13.22 - - - MAGEA10 0 genome.wustl.edu 37 X 151303066 151303066 + Missense_Mutation SNP C C T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f X 151303066 151303066 C T SNP MAGEA10 ENST00000244096 human ensembl 69_37n -1 known missense c.1027 p.D343N 0.001 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA10 HGNC ENSG00000124260 195 0 0.00 128 22 14.57 - - - MCCC2 0 genome.wustl.edu 37 5 70898474 70898474 + RNA SNP G G C TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 5 70898474 70898474 G C SNP MCCC2 ENST00000507169 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MCCC2 HGNC ENSG00000131844 212 0 0.00 141 58 29.15 - - - MERTK 0 genome.wustl.edu 37 2 112779075 112779075 + Nonsense_Mutation SNP C C T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 2 112779075 112779075 C T SNP MERTK ENST00000295408 human ensembl 69_37n +1 known nonsense c.2266 p.Q756* 1.000 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_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC ENSG00000153208 78 0 0.00 74 27 26.73 - - - MIR490 0 genome.wustl.edu 37 7 136588002 136588002 + RNA SNP T T A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 7 136588002 136588002 T A SNP MIR490 ENST00000384865 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors MIR490 HGNC ENSG00000207597 121 0 0.00 103 50 32.68 - - - MLC1 0 genome.wustl.edu 37 22 50518384 50518384 + Missense_Mutation SNP A A G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 22 50518384 50518384 A G SNP MLC1 ENST00000311597 human ensembl 69_37n -1 known missense c.386 p.F129S 1.000 NULL NULL - no_errors MLC1 HGNC ENSG00000100427 46 0 0.00 19 11 36.67 - - - MPP4 0 genome.wustl.edu 37 2 202512439 202512439 + Missense_Mutation SNP T T A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 2 202512439 202512439 T A SNP MPP4 ENST00000359962 human ensembl 69_37n -1 known missense c.1694 p.D565V 0.999 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP4 HGNC ENSG00000082126 80 0 0.00 45 25 35.71 - - - MSANTD3-TMEFF1 0 genome.wustl.edu 37 9 103334854 103334854 + Missense_Mutation SNP C C G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 9 103334854 103334854 C G SNP MSANTD3-TMEFF1 ENST00000502978 human ensembl 69_37n +1 putative missense c.844 p.L282V 1.000 NULL pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,pfscan_EG-like_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MSANTD3-TMEFF1 HGNC ENSG00000251349 108 0 0.00 57 59 50.86 - - - MYO16 0 genome.wustl.edu 37 13 109672250 109672250 + Silent SNP C C T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 13 109672250 109672250 C T SNP MYO16 ENST00000356711 human ensembl 69_37n +1 known silent c.2721 p.Y907 0.686 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 77 0 0.00 70 13 15.66 - - - NDOR1 0 genome.wustl.edu 37 9 140109063 140109063 + Missense_Mutation SNP C C T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 9 140109063 140109063 C T SNP NDOR1 ENST00000371521 human ensembl 69_37n +1 known missense c.764 p.S255L 0.001 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NDOR1 HGNC ENSG00000188566 26 0 0.00 5 5 50.00 - - - NOL11 0 genome.wustl.edu 37 17 65734083 65734083 + Missense_Mutation SNP C C G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 17 65734083 65734083 C G SNP NOL11 ENST00000253247 human ensembl 69_37n +1 known missense c.1524 p.F508L 1.000 NULL pfam_NUC205 - no_errors NOL11 HGNC ENSG00000130935 134 0 0.00 192 29 13.12 - - - NUP153 0 genome.wustl.edu 37 6 17629106 17629106 + Silent SNP T T C TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 6 17629106 17629106 T C SNP NUP153 ENST00000537253 human ensembl 69_37n -1 known silent c.3417 p.Q1139 0.998 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 107 0 0.00 73 43 37.07 - - - OR14A16 0 genome.wustl.edu 37 1 247978926 247978926 + Missense_Mutation SNP C C A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 1 247978926 247978926 C A SNP OR14A16 ENST00000357627 human ensembl 69_37n -1 known missense c.106 p.A36S 0.021 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR14A16 HGNC ENSG00000196772 119 0 0.00 223 62 21.75 - - - OR2L2 0 genome.wustl.edu 37 1 248201996 248201996 + Missense_Mutation SNP A A G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 1 248201996 248201996 A G SNP OR2L2 ENST00000366479 human ensembl 69_37n +1 known missense c.427 p.M143V 0.524 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2L2 HGNC ENSG00000203663 403 0 0.00 460 363 44.11 - - - OR2L2 0 genome.wustl.edu 37 1 248202362 248202362 + Nonsense_Mutation SNP C C T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 1 248202362 248202362 C T SNP OR2L2 ENST00000366479 human ensembl 69_37n +1 known nonsense c.793 p.R265* 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2L2 HGNC ENSG00000203663 276 0 0.00 422 135 24.19 - - - PAN2 0 genome.wustl.edu 37 12 56720592 56720592 + Missense_Mutation SNP C C A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 12 56720592 56720592 C A SNP PAN2 ENST00000425394 human ensembl 69_37n -1 known missense c.1071 p.W357C 1.000 superfamily_WD40_repeat_dom pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19 - no_errors PAN2 HGNC ENSG00000135473 94 0 0.00 110 47 29.94 - - - PCDHB5 0 genome.wustl.edu 37 5 140516843 140516843 + Silent SNP G G A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 5 140516843 140516843 G A SNP PCDHB5 ENST00000231134 human ensembl 69_37n +1 known silent c.1827 p.T609 0.902 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 PCDHB5 HGNC ENSG00000113209 78 0 0.00 77 48 38.10 - - - PCK1 0 genome.wustl.edu 37 20 56138123 56138123 + Missense_Mutation SNP C C A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 20 56138123 56138123 C A SNP PCK1 ENST00000319441 human ensembl 69_37n +1 known missense c.650 p.T217K 1.000 pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK1 HGNC ENSG00000124253 16 0 0.00 17 5 22.73 - - - PCM1 0 genome.wustl.edu 37 8 17872349 17872349 + Nonsense_Mutation SNP T T G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 8 17872349 17872349 T G SNP PCM1 ENST00000325083 human ensembl 69_37n +1 known nonsense c.5841 p.Y1947* 1.000 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 44 0 0.00 34 8 19.05 - - - PCSK7 0 genome.wustl.edu 37 11 117076792 117076792 + Frame_Shift_Del DEL A A - TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 11 117076792 117076792 A - DEL PCSK7 ENST00000320934 human ensembl 69_37n -1 known frame_shift_del c.2279 p.L760fs 0.061 NULL pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 36 0 0.00 29 18 38.30 - - - PNMA5 0 genome.wustl.edu 37 X 152159875 152159875 + Missense_Mutation SNP C C T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f X 152159875 152159875 C T SNP PNMA5 ENST00000361887 human ensembl 69_37n -1 known missense c.268 p.E90K 0.967 NULL NULL - no_errors PNMA5 HGNC ENSG00000198883 155 0 0.00 56 10 15.15 - - - PRAME 0 genome.wustl.edu 37 22 22890679 22890679 + Missense_Mutation SNP C C T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 22 22890679 22890679 C T SNP PRAME ENST00000398741 human ensembl 69_37n -1 known missense c.1340 p.S447N 0.537 NULL NULL - no_errors PRAME HGNC ENSG00000185686 81 0 0.00 47 35 42.68 - - - PROKR2 0 genome.wustl.edu 37 20 5294674 5294674 + Silent SNP G G A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 20 5294674 5294674 G A SNP PROKR2 ENST00000217270 human ensembl 69_37n -1 known silent c.342 p.Y114 0.886 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_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 77 0 0.00 26 23 46.94 - - - RCCD1 0 genome.wustl.edu 37 15 91504977 91504977 + Missense_Mutation SNP C C T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 15 91504977 91504977 C T SNP RCCD1 ENST00000394258 human ensembl 69_37n +1 known missense c.1109 p.A370V 0.863 pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,prints_Reg_chr_condens,pfscan_Reg_chr_condens - no_errors RCCD1 HGNC ENSG00000166965 57 0 0.00 108 15 12.20 - - - REV1 0 genome.wustl.edu 37 2 100019354 100019354 + Missense_Mutation SNP G G C TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 2 100019354 100019354 G C SNP REV1 ENST00000258428 human ensembl 69_37n -1 known missense c.3382 p.L1128V 0.966 pirsf_REV1 pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 150 0 0.00 104 50 32.47 - - - RNF123 0 genome.wustl.edu 37 3 49757963 49757963 + Missense_Mutation SNP G G A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 3 49757963 49757963 G A SNP RNF123 ENST00000327697 human ensembl 69_37n +1 known missense c.3520 p.V1174M 0.997 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 39 0 0.00 24 7 22.58 - - - RNF19A 0 genome.wustl.edu 37 8 101273937 101273937 + Missense_Mutation SNP C C G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 8 101273937 101273937 C G SNP RNF19A ENST00000341084 human ensembl 69_37n -1 known missense c.1515 p.E505D 0.996 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 116 0 0.00 111 45 28.85 - - - RNF219 0 genome.wustl.edu 37 13 79209283 79209283 + Missense_Mutation SNP T T G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 13 79209283 79209283 T G SNP RNF219 ENST00000282003 human ensembl 69_37n -1 known missense c.600 p.L200F 1.000 NULL pfscan_Znf_RING - no_errors RNF219 HGNC ENSG00000152193 97 0 0.00 54 23 29.87 - - - SEMA5A 0 genome.wustl.edu 37 5 9066543 9066543 + Nonsense_Mutation SNP G G T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 5 9066543 9066543 G T SNP SEMA5A ENST00000382496 human ensembl 69_37n -1 known nonsense c.2289 p.C763* 1.000 NULL pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 148 0 0.00 167 76 30.89 - - - SIDT1 0 genome.wustl.edu 37 3 113345058 113345058 + Missense_Mutation SNP T T G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 3 113345058 113345058 T G SNP SIDT1 ENST00000393830 human ensembl 69_37n +1 known missense c.2432 p.F811C 1.000 NULL NULL - no_errors SIDT1 HGNC ENSG00000072858 179 0 0.00 164 74 31.09 - - - SLITRK5 0 genome.wustl.edu 37 13 88328771 88328771 + Silent SNP C C T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 13 88328771 88328771 C T SNP SLITRK5 ENST00000325089 human ensembl 69_37n +1 known silent c.1128 p.T376 0.913 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 99 0 0.00 93 37 28.46 - - - SNORA67 0 genome.wustl.edu 37 17 7481290 7481290 + RNA SNP C C G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 17 7481290 7481290 C G SNP SNORA67 ENST00000384423 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SNORA67 HGNC ENSG00000207152 144 0 0.00 45 30 39.47 - - - SPHKAP 0 genome.wustl.edu 37 2 228884271 228884271 + Nonsense_Mutation SNP A A T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 2 228884271 228884271 A T SNP SPHKAP ENST00000392056 human ensembl 69_37n -1 known nonsense c.1299 p.Y433* 0.989 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 89 0 0.00 48 11 18.64 - - - SSB 0 genome.wustl.edu 37 2 170663549 170663549 + Silent SNP G G A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 2 170663549 170663549 G A SNP SSB ENST00000260956 human ensembl 69_37n +1 known silent c.522 p.K174 0.960 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors SSB HGNC ENSG00000138385 98 0 0.00 76 36 32.14 - - - SSH1 0 genome.wustl.edu 37 12 109181920 109181920 + Silent SNP C C A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 12 109181920 109181920 C A SNP SSH1 ENST00000326495 human ensembl 69_37n -1 known silent c.2994 p.P998 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 101 0 0.00 65 21 24.14 - - - TACR2 0 genome.wustl.edu 37 10 71174803 71174803 + Missense_Mutation SNP A A T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 10 71174803 71174803 A T SNP TACR2 ENST00000373306 human ensembl 69_37n -1 known missense c.485 p.L162Q 0.994 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NK2_rcpt,prints_Neurokn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors TACR2 HGNC ENSG00000075073 22 0 0.00 8 5 38.46 - - - THNSL2 0 genome.wustl.edu 37 2 88474185 88474185 + Missense_Mutation SNP T T C TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 2 88474185 88474185 T C SNP THNSL2 ENST00000324166 human ensembl 69_37n +1 known missense c.251 p.F84S 1.000 superfamily_PyrdxlP-dep_enz_bsu,tigrfam_Thr_synthase pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,tigrfam_Thr_synthase - no_errors THNSL2 HGNC ENSG00000144115 78 0 0.00 42 17 28.81 - - - TMC2 0 genome.wustl.edu 37 20 2593995 2593995 + RNA SNP G G A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 20 2593995 2593995 G A SNP TMC2 ENST00000496948 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors TMC2 HGNC ENSG00000149488 34 0 0.00 67 21 23.86 - - - TP53 0 genome.wustl.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 17 7578271 7578271 T A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.578 p.H193L 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 104 0 0.00 40 42 50.60 - - - TRRAP 0 genome.wustl.edu 37 7 98579427 98579427 + Missense_Mutation SNP G G C TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 7 98579427 98579427 G C SNP TRRAP ENST00000359863 human ensembl 69_37n +1 known missense c.8649 p.K2883N 0.994 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 TRRAP HGNC ENSG00000196367 9 0 0.00 9 4 30.77 - - - TUBA1C 0 genome.wustl.edu 37 12 49663336 49663336 + Missense_Mutation SNP A A T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 12 49663336 49663336 A T SNP TUBA1C ENST00000301072 human ensembl 69_37n +1 known missense c.92 p.Q31L 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1C HGNC ENSG00000167553 121 0 0.00 67 32 32.32 - - - UPF3B 0 genome.wustl.edu 37 X 118971887 118971887 + Missense_Mutation SNP G G A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f X 118971887 118971887 G A SNP UPF3B ENST00000276201 human ensembl 69_37n -1 known missense c.1135 p.R379C 1.000 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC ENSG00000125351 253 0 0.00 245 113 31.56 - - - USP53 0 genome.wustl.edu 37 4 120192520 120192520 + Missense_Mutation SNP A A G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 4 120192520 120192520 A G SNP USP53 ENST00000274030 human ensembl 69_37n +1 known missense c.1505 p.H502R 0.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP53 HGNC ENSG00000145390 103 0 0.00 70 34 32.69 - - - VPS8 0 genome.wustl.edu 37 3 184566859 184566859 + Missense_Mutation SNP A A T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 3 184566859 184566859 A T SNP VPS8 ENST00000287546 human ensembl 69_37n +1 known missense c.542 p.Y181F 1.000 superfamily_Quinonprotein_ADH-like superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 66 0 0.00 50 28 35.90 - - - VRK3 0 genome.wustl.edu 37 19 50510825 50510825 + Splice_Site SNP C C A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 19 50510825 50510825 C A SNP VRK3 ENST00000316763 human ensembl 69_37n -1 known splice_site c.547+1 e3+1 0.992 - - - no_errors VRK3 HGNC ENSG00000105053 51 0 0.00 71 37 34.26 - - - VRTN 0 genome.wustl.edu 37 14 74824475 74824476 + Frame_Shift_Ins INS - - C TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 14 74824475 74824476 - C INS VRTN ENST00000256362 human ensembl 69_37n +1 known frame_shift_ins c.989_990 p.P331fs 0.994:0.997 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 35 0 0.00 20 13 39.39 - - - WFDC8 0 genome.wustl.edu 37 20 44180679 44180679 + Missense_Mutation SNP C C G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 20 44180679 44180679 C G SNP WFDC8 ENST00000289953 human ensembl 69_37n -1 known missense c.712 p.D238H 0.000 pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core pfam_Whey_acidic_protein_4-diS_core,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,prints_4-disulphide_core,pfscan_Prot_inh_Kunz-m - no_errors WFDC8 HGNC ENSG00000158901 232 0 0.00 283 92 24.53 - - - WIPI1 0 genome.wustl.edu 37 17 66426165 66426165 + Missense_Mutation SNP C C T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 17 66426165 66426165 C T SNP WIPI1 ENST00000262139 human ensembl 69_37n -1 known missense c.937 p.G313R 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI1 HGNC ENSG00000070540 111 0 0.00 67 33 33.00 - - - WSCD2 0 genome.wustl.edu 37 12 108589649 108589649 + Missense_Mutation SNP C C T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 12 108589649 108589649 C T SNP WSCD2 ENST00000261400 human ensembl 69_37n +1 known missense c.40 p.R14W 0.977 NULL pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 191 0 0.00 141 48 25.40 - - - WSCD2 0 genome.wustl.edu 37 12 108589656 108589656 + Missense_Mutation SNP C C A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 12 108589656 108589656 C A SNP WSCD2 ENST00000261400 human ensembl 69_37n +1 known missense c.47 p.P16H 1.000 NULL pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 192 0 0.00 120 72 37.50 - - - XIST 0 genome.wustl.edu 37 X 73063621 73063621 + RNA SNP T T G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f X 73063621 73063621 T G SNP XIST ENST00000429829 human ensembl 69_37n -1 known rna NULL NULL 0.009 - - - no_errors XIST HGNC ENSG00000229807 40 0 0.00 61 22 26.51 - - - XKR6 0 genome.wustl.edu 37 8 10755617 10755617 + Missense_Mutation SNP T T G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 8 10755617 10755617 T G SNP XKR6 ENST00000382461 human ensembl 69_37n -1 putative missense c.1101 p.Q367H 1.000 NULL pfam_Transport_prot_XK - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region XKR6 HGNC ENSG00000171044 164 0 0.00 124 23 15.65 - - - ZFR 0 genome.wustl.edu 37 5 32390509 32390509 + Nonsense_Mutation SNP C C A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 5 32390509 32390509 C A SNP ZFR ENST00000265069 human ensembl 69_37n -1 known nonsense c.2014 p.E672* 1.000 NULL pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 55 0 0.00 96 34 25.95 - - - ZMYND19 0 genome.wustl.edu 37 9 140481541 140481542 + Frame_Shift_Ins INS - - C TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 9 140481541 140481542 - C INS ZMYND19 ENST00000298585 human ensembl 69_37n -1 known frame_shift_ins c.237_236 p.V80fs 0.508:0.986 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND19 HGNC ENSG00000165724 12 0 0.00 16 3 15.79 - - - ZNF208 0 genome.wustl.edu 37 19 22156700 22156700 + Missense_Mutation SNP T T C TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 19 22156700 22156700 T C SNP ZNF208 ENST00000397126 human ensembl 69_37n -1 known missense c.1136 p.K379R 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 321 0 0.00 259 160 38.19 - - - ZNF229 0 genome.wustl.edu 37 19 44933197 44933197 + Missense_Mutation SNP G G A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 19 44933197 44933197 G A SNP ZNF229 ENST00000588931 human ensembl 69_37n -1 known missense c.1759 p.L587F 0.002 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 ZNF229 HGNC ENSG00000167383 160 1 0.62 95 23 19.49 - - - ZNF532 0 genome.wustl.edu 37 18 56586092 56586092 + Silent SNP G G T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 18 56586092 56586092 G T SNP ZNF532 ENST00000336078 human ensembl 69_37n +1 known silent c.573 p.T191 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 397 0 0.00 369 222 37.56 - - - ZNF585B 0 genome.wustl.edu 37 19 37681051 37681051 + Missense_Mutation SNP C C T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 19 37681051 37681051 C T SNP ZNF585B ENST00000532828 human ensembl 69_37n -1 known missense c.74 p.G25E 0.410 superfamily_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 ZNF585B HGNC ENSG00000245680 163 0 0.00 126 27 17.65 - - - ZNF598 0 genome.wustl.edu 37 16 2048361 2048361 + Missense_Mutation SNP C C A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 16 2048361 2048361 C A SNP ZNF598 ENST00000431526 human ensembl 69_37n -1 known missense c.2587 p.D863Y 1.000 NULL superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 10 0 0.00 0 4 100.00 - - - ZNF76 0 genome.wustl.edu 37 6 35258417 35258417 + Splice_Site SNP G G A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 6 35258417 35258417 G A SNP ZNF76 ENST00000373953 human ensembl 69_37n +1 known splice_site c.550-1 e6-1 1.000 - - - no_errors ZNF76 HGNC ENSG00000065029 190 0 0.00 78 55 41.35 - - - ZNF804B 0 genome.wustl.edu 37 7 88963433 88963433 + Missense_Mutation SNP G G T TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9d3ad8d0-ddd3-44d2-ba0e-0b283a4fbf32 b3d6fcbb-a58c-488b-81d0-3af21736e84f 7 88963433 88963433 G T SNP ZNF804B ENST00000333190 human ensembl 69_37n +1 known missense c.1137 p.R379S 0.038 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 110 0 0.00 161 39 19.50 - - -