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 ADAMTSL3 0 genome.wustl.edu 37 15 84657563 84657563 + Silent SNP G G A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 15 84657563 84657563 G A SNP ADAMTSL3 ENST00000286744 human ensembl 69_37n +1 known silent c.3837 p.L1279 0.094 smart_Ig_sub,pfscan_Ig-like pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 51 0 0.00 37 8 17.78 - - - AHNAK2 0 genome.wustl.edu 37 14 105416842 105416842 + Missense_Mutation SNP T T A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 14 105416842 105416842 T A SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known missense c.4946 p.K1649M 0.025 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 45 0 0.00 32 8 20.00 - - - AIM2 0 genome.wustl.edu 37 1 159043162 159043162 + Missense_Mutation SNP G G A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 1 159043162 159043162 G A SNP AIM2 ENST00000368130 human ensembl 69_37n -1 known missense c.128 p.A43V 0.000 pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,superfamily_NA-bd_OB-fold-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors AIM2 HGNC ENSG00000163568 45 0 0.00 62 11 15.07 - - - ALPK3 0 genome.wustl.edu 37 15 85382269 85382269 + Silent SNP T T C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 15 85382269 85382269 T C SNP ALPK3 ENST00000258888 human ensembl 69_37n +1 known silent c.969 p.C323 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK3 HGNC ENSG00000136383 27 0 0.00 25 8 24.24 - - - ANGPTL5 0 genome.wustl.edu 37 11 101777841 101777841 + Silent SNP G G A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 11 101777841 101777841 G A SNP ANGPTL5 ENST00000334289 human ensembl 69_37n -1 known silent c.234 p.F78 0.998 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL5 HGNC ENSG00000187151 56 0 0.00 40 14 25.93 - - - ANKRD36 0 genome.wustl.edu 37 2 97864218 97864218 + Missense_Mutation SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 2 97864218 97864218 C T SNP ANKRD36 ENST00000420699 human ensembl 69_37n +1 known missense c.2672 p.P891L 0.003 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 193 0 0.00 130 16 10.96 - - - ASIC3 0 genome.wustl.edu 37 7 150749825 150749825 + Missense_Mutation SNP A A G TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 7 150749825 150749825 A G SNP ASIC3 ENST00000357922 human ensembl 69_37n +1 known missense c.1623 p.I541M 1.000 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC3 HGNC ENSG00000213199 54 0 0.00 48 6 11.11 - - - ATP1A4 0 genome.wustl.edu 37 1 160124840 160124840 + Silent SNP T T C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 1 160124840 160124840 T C SNP ATP1A4 ENST00000368081 human ensembl 69_37n +1 known silent c.213 p.H71 0.002 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,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 ATP1A4 HGNC ENSG00000132681 28 0 0.00 48 10 17.24 - - - BCS1L 0 genome.wustl.edu 37 2 219527298 219527298 + Missense_Mutation SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 2 219527298 219527298 C T SNP BCS1L ENST00000359273 human ensembl 69_37n +1 known missense c.785 p.S262F 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_BCS1_N,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors BCS1L HGNC ENSG00000074582 11 0 0.00 13 8 38.10 - - - CAD 0 genome.wustl.edu 37 2 27447691 27447691 + Missense_Mutation SNP G G T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 2 27447691 27447691 G T SNP CAD ENST00000264705 human ensembl 69_37n +1 known missense c.1333 p.G445W 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_fold,tigrfam_CarbamoylP_synth_lsu 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 49 0 0.00 43 8 15.69 - - - CADM2 0 genome.wustl.edu 37 3 85984959 85984959 + Missense_Mutation SNP A A C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 3 85984959 85984959 A C SNP CADM2 ENST00000405615 human ensembl 69_37n +1 known missense c.722 p.Q241P 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM2 HGNC ENSG00000175161 68 0 0.00 44 15 25.42 - - - CDK14 0 genome.wustl.edu 37 7 90355956 90355956 + Missense_Mutation SNP G G A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 7 90355956 90355956 G A SNP CDK14 ENST00000380050 human ensembl 69_37n +1 known missense c.199 p.E67K 1.000 NULL 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 - no_errors CDK14 HGNC ENSG00000058091 45 0 0.00 42 9 17.65 - - - CENPF 0 genome.wustl.edu 37 1 214816025 214816025 + Silent SNP C C A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 1 214816025 214816025 C A SNP CENPF ENST00000366955 human ensembl 69_37n +1 known silent c.4344 p.V1448 0.151 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 38 0 0.00 52 7 11.86 - - - CHD6 0 genome.wustl.edu 37 20 40049605 40049605 + Silent SNP T T G TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 20 40049605 40049605 T G SNP CHD6 ENST00000373233 human ensembl 69_37n -1 known silent c.5670 p.V1890 0.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,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 CHD6 HGNC ENSG00000124177 88 0 0.00 76 10 11.63 - - - CLSTN2 0 genome.wustl.edu 37 3 140275475 140275475 + Missense_Mutation SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 3 140275475 140275475 C T SNP CLSTN2 ENST00000458420 human ensembl 69_37n +1 known missense c.1795 p.R599W 0.943 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 25 0 0.00 21 5 18.52 - - - COL6A6 0 genome.wustl.edu 37 3 130318623 130318623 + Missense_Mutation SNP C C A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 3 130318623 130318623 C A SNP COL6A6 ENST00000358511 human ensembl 69_37n +1 known missense c.4622 p.P1541H 0.013 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 45 0 0.00 41 10 19.61 - - - DCUN1D1 0 genome.wustl.edu 37 3 182683349 182683349 + Nonsense_Mutation SNP C C A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 3 182683349 182683349 C A SNP DCUN1D1 ENST00000292782 human ensembl 69_37n -1 known nonsense c.196 p.E66* 1.000 NULL pfam_PONY_dom,superfamily_UBA-like - no_errors DCUN1D1 HGNC ENSG00000043093 44 0 0.00 50 11 18.03 - - - DGKQ 0 genome.wustl.edu 37 4 961414 961414 + Missense_Mutation SNP C C G TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 4 961414 961414 C G SNP DGKQ ENST00000273814 human ensembl 69_37n -1 known missense c.910 p.D304H 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ras-assoc,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKQ HGNC ENSG00000145214 22 0 0.00 13 4 23.53 - - - DNAH10 0 genome.wustl.edu 37 12 124356102 124356102 + Missense_Mutation SNP A A C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 12 124356102 124356102 A C SNP DNAH10 ENST00000409039 human ensembl 69_37n +1 known missense c.7384 p.T2462P 1.000 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 76 0 0.00 52 25 32.47 - - - DNAJC14 0 genome.wustl.edu 37 12 56222324 56222325 + Frame_Shift_Del DEL CT CT - TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 12 56222324 56222325 CT - DEL DNAJC14 ENST00000317269 human ensembl 69_37n -1 known frame_shift_del c.119_118 p.R40fs 1.000:1.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC ENSG00000135392 80 0 0.00 67 11 13.75 - - - DNMBP 0 genome.wustl.edu 37 10 101715245 101715245 + Silent SNP G G C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 10 101715245 101715245 G C SNP DNMBP ENST00000342239 human ensembl 69_37n -1 known silent c.1986 p.L662 0.000 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,prints_p67phox,prints_Spectrin_alpha_SH3,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors DNMBP HGNC ENSG00000107554 29 0 0.00 29 4 12.12 - - - DOCK2 0 genome.wustl.edu 37 5 169141180 169141180 + Missense_Mutation SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 5 169141180 169141180 C T SNP DOCK2 ENST00000256935 human ensembl 69_37n +1 known missense c.1808 p.S603F 1.000 NULL pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 30 0 0.00 26 13 33.33 - - - DOCK4 0 genome.wustl.edu 37 7 111398727 111398727 + Missense_Mutation SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 7 111398727 111398727 C T SNP DOCK4 ENST00000428084 human ensembl 69_37n -1 known missense c.4282 p.D1428N 1.000 pfam_DOCK pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 68 0 0.00 58 14 19.44 - - - EDA2R 0 genome.wustl.edu 37 X 65824309 65824309 + Silent SNP T T C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 X 65824309 65824309 T C SNP EDA2R ENST00000253392 human ensembl 69_37n -1 known silent c.306 p.Q102 1.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_27,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors EDA2R HGNC ENSG00000131080 52 0 0.00 27 11 28.95 - - - EIF4H 0 genome.wustl.edu 37 7 73588716 73588718 + In_Frame_Del DEL GGC GGC - TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 7 73588716 73588718 GGC - DEL EIF4H ENST00000265753 human ensembl 69_37n +1 known in_frame_del c.3_5 p.A2in_frame_del 1.000:1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4H HGNC ENSG00000106682 16 0 0.00 5 3 37.50 - - - EP400 0 genome.wustl.edu 37 12 132475210 132475212 + In_Frame_Del DEL AGA AGA - TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 12 132475210 132475212 AGA - DEL EP400 ENST00000333577 human ensembl 69_37n +1 known in_frame_del c.2688_2690 p.E898in_frame_del 0.995:0.999:1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 40 0 0.00 22 8 26.67 - - - ETS1 0 genome.wustl.edu 37 11 128426192 128426192 + Missense_Mutation SNP C C A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 11 128426192 128426192 C A SNP ETS1 ENST00000392668 human ensembl 69_37n -1 known missense c.208 p.V70F 0.998 pirsf_Transforming_factor_C-ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets - no_errors ETS1 HGNC ENSG00000134954 58 0 0.00 40 20 33.33 - - - FAM47A 0 genome.wustl.edu 37 X 34149096 34149096 + Missense_Mutation SNP A A G TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 X 34149096 34149096 A G SNP FAM47A ENST00000346193 human ensembl 69_37n -1 known missense c.1300 p.S434P 0.005 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 24 0 0.00 35 12 25.53 - - - FER1L6 0 genome.wustl.edu 37 8 125029949 125029949 + Missense_Mutation SNP G G C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 8 125029949 125029949 G C SNP FER1L6 ENST00000399018 human ensembl 69_37n +1 known missense c.2004 p.W668C 1.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC ENSG00000214814 52 0 0.00 40 16 28.57 - - - FMR1 0 genome.wustl.edu 37 X 147007128 147007128 + Missense_Mutation SNP A A C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 X 147007128 147007128 A C SNP FMR1 ENST00000370475 human ensembl 69_37n +1 known missense c.175 p.I59L 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 55 0 0.00 32 14 30.43 - - - FOPNL 0 genome.wustl.edu 37 16 15961319 15961319 + Missense_Mutation SNP A A C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 16 15961319 15961319 A C SNP FOPNL ENST00000255759 human ensembl 69_37n -1 known missense c.503 p.V168G 0.005 NULL pfam_FOP_dimerisation-dom_N,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors FOPNL HGNC ENSG00000133393 103 0 0.00 56 29 34.12 - - - GLG1 0 genome.wustl.edu 37 16 74501683 74501684 + Frame_Shift_Del DEL AG AG - TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 16 74501683 74501684 AG - DEL GLG1 ENST00000205061 human ensembl 69_37n -1 known frame_shift_del c.2500_2499 p.F833fs 1.000:1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 68 0 0.00 57 14 19.72 - - - GPAM 0 genome.wustl.edu 37 10 113920522 113920522 + Silent SNP T T G TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 10 113920522 113920522 T G SNP GPAM ENST00000348367 human ensembl 69_37n -1 known silent c.1599 p.V533 1.000 NULL pfam_Acyltransferase,smart_Acyltransferase - no_errors GPAM HGNC ENSG00000119927 73 0 0.00 28 17 37.78 - - - HDHD2 0 genome.wustl.edu 37 18 44660972 44660972 + Missense_Mutation SNP C C G TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 18 44660972 44660972 C G SNP HDHD2 ENST00000300605 human ensembl 69_37n -1 known missense c.205 p.E69Q 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA - no_errors HDHD2 HGNC ENSG00000167220 91 0 0.00 82 11 11.83 - - - HEATR1 0 genome.wustl.edu 37 1 236766623 236766623 + Missense_Mutation SNP C C G TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 1 236766623 236766623 C G SNP HEATR1 ENST00000366582 human ensembl 69_37n -1 known missense c.196 p.E66Q 1.000 NULL pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 69 0 0.00 104 16 13.33 - - - HIST1H2BN 0 genome.wustl.edu 37 6 27806523 27806523 + Silent SNP G G A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 6 27806523 27806523 G A SNP HIST1H2BN ENST00000396980 human ensembl 69_37n +1 known silent c.84 p.K28 1.000 superfamily_Histone-fold,smart_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BN HGNC ENSG00000233822 69 0 0.00 74 12 13.95 - - - HLA-DQB2 0 genome.wustl.edu 37 6 32726803 32726803 + Missense_Mutation SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 6 32726803 32726803 C T SNP HLA-DQB2 ENST00000435145 human ensembl 69_37n -1 known missense c.470 p.R157Q 0.142 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_b_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQB2 HGNC ENSG00000232629 9 0 0.00 4 12 75.00 - - - INPPL1 0 genome.wustl.edu 37 11 71942144 71942144 + Missense_Mutation SNP G G C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 11 71942144 71942144 G C SNP INPPL1 ENST00000298229 human ensembl 69_37n +1 known missense c.1408 p.G470R 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 24 0 0.00 16 10 38.46 - - - KCNS3 0 genome.wustl.edu 37 2 18112363 18112363 + Missense_Mutation SNP C C G TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 2 18112363 18112363 C G SNP KCNS3 ENST00000304101 human ensembl 69_37n +1 known missense c.88 p.Q30E 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 35 0 0.00 31 10 24.39 - - - KCNT2 0 genome.wustl.edu 37 1 196394988 196394988 + Missense_Mutation SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 1 196394988 196394988 C T SNP KCNT2 ENST00000294725 human ensembl 69_37n -1 known missense c.1115 p.R372K 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT2 HGNC ENSG00000162687 55 0 0.00 53 37 41.11 - - - KIAA1009 0 genome.wustl.edu 37 6 84881431 84881431 + Missense_Mutation SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 6 84881431 84881431 C T SNP KIAA1009 ENST00000403245 human ensembl 69_37n -1 known missense c.2173 p.E725K 1.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 97 0 0.00 74 11 12.94 - - - KIAA1467 0 genome.wustl.edu 37 12 13208573 13208573 + Silent SNP G G A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 12 13208573 13208573 G A SNP KIAA1467 ENST00000197268 human ensembl 69_37n +1 known silent c.126 p.Q42 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors KIAA1467 HGNC ENSG00000084444 32 0 0.00 17 6 26.09 - - - LNX1 0 genome.wustl.edu 37 4 54343119 54343119 + Missense_Mutation SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 4 54343119 54343119 C T SNP LNX1 ENST00000263925 human ensembl 69_37n -1 known missense c.1693 p.E565K 0.975 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC ENSG00000072201 56 0 0.00 37 10 21.28 - - - LRRIQ4 0 genome.wustl.edu 37 3 169550895 169550895 + Missense_Mutation SNP A A G TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 3 169550895 169550895 A G SNP LRRIQ4 ENST00000340806 human ensembl 69_37n +1 known missense c.1454 p.E485G 0.039 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ4 HGNC ENSG00000188306 33 0 0.00 28 12 30.00 - - - LYZL2 0 genome.wustl.edu 37 10 30915760 30915760 + Missense_Mutation SNP T T C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 10 30915760 30915760 T C SNP LYZL2 ENST00000375318 human ensembl 69_37n -1 known missense c.223 p.K75E 1.000 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL2 HGNC ENSG00000151033 113 0 0.00 101 16 13.68 - - - MED12 0 genome.wustl.edu 37 X 70351944 70351944 + Missense_Mutation SNP A A T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 X 70351944 70351944 A T SNP MED12 ENST00000333646 human ensembl 69_37n +1 known missense c.4141 p.N1381Y 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 38 0 0.00 30 4 11.76 - - - MTMR10 0 genome.wustl.edu 37 15 31233955 31233955 + Silent SNP G G C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 15 31233955 31233955 G C SNP MTMR10 ENST00000435680 human ensembl 69_37n -1 known silent c.2052 p.L684 0.024 pfam_Myotubularin_assoc pfam_Myotubularin_assoc,pfam_Myotub-related - no_errors MTMR10 HGNC ENSG00000166912 30 0 0.00 32 6 15.79 - - - MUC2 0 genome.wustl.edu 37 11 1096456 1096456 + Missense_Mutation SNP G G C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 11 1096456 1096456 G C SNP MUC2 ENST00000441003 human ensembl 69_37n +1 known missense c.6481 p.D2161H 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 22 0 0.00 21 7 25.00 - - - N4BP1 0 genome.wustl.edu 37 16 48595832 48595832 + Missense_Mutation SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 16 48595832 48595832 C T SNP N4BP1 ENST00000262384 human ensembl 69_37n -1 known missense c.722 p.G241E 0.999 NULL pfam_RNase_Zc3h12 - no_errors N4BP1 HGNC ENSG00000102921 36 0 0.00 41 9 18.00 - - - NCOR1 0 genome.wustl.edu 37 17 15965432 15965432 + Nonsense_Mutation SNP G G A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 17 15965432 15965432 G A SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known nonsense c.5374 p.Q1792* 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 45 0 0.00 21 14 40.00 - - - NF1 0 genome.wustl.edu 37 17 29553598 29553598 + Missense_Mutation SNP A A T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 17 29553598 29553598 A T SNP NF1 ENST00000358273 human ensembl 69_37n +1 known missense c.2147 p.E716V 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 53 0 0.00 27 8 22.86 - - - NPY1R 0 genome.wustl.edu 37 4 164247139 164247139 + Missense_Mutation SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 4 164247139 164247139 C T SNP NPY1R ENST00000296533 human ensembl 69_37n -1 known missense c.568 p.D190N 0.001 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_supfam,prints_NPY1_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_supfam,prints_NPY1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY1R HGNC ENSG00000164128 46 0 0.00 31 10 24.39 - - - OR6C76 0 genome.wustl.edu 37 12 55820676 55820676 + Silent SNP C C G TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 12 55820676 55820676 C G SNP OR6C76 ENST00000328314 human ensembl 69_37n +1 known silent c.639 p.L213 0.000 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6C76 HGNC ENSG00000185821 64 0 0.00 49 13 20.97 - - - PALM2-AKAP2 0 genome.wustl.edu 37 9 112930764 112930764 + Missense_Mutation SNP A A G TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 9 112930764 112930764 A G SNP PALM2-AKAP2 ENST00000374530 human ensembl 69_37n +1 known missense c.3299 p.E1100G 1.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 41 0 0.00 32 12 27.27 - - - PDE10A 0 genome.wustl.edu 37 6 165756912 165756912 + Missense_Mutation SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 6 165756912 165756912 C T SNP PDE10A ENST00000539869 human ensembl 69_37n -1 known missense c.2065 p.A689T 0.765 pfam_PDEase_catalytic_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 45 0 0.00 55 14 20.29 - - - PIK3CA 0 genome.wustl.edu 37 3 178936095 178936095 + Missense_Mutation SNP A A G TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 3 178936095 178936095 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1637 p.Q546R 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 59 0 0.00 34 7 17.07 - - - POF1B 0 genome.wustl.edu 37 X 84601036 84601036 + Missense_Mutation SNP G G C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 X 84601036 84601036 G C SNP POF1B ENST00000373145 human ensembl 69_37n -1 known missense c.553 p.Q185E 0.997 NULL NULL - no_errors POF1B HGNC ENSG00000124429 105 0 0.00 63 12 16.00 - - - PPM1D 0 genome.wustl.edu 37 17 58740529 58740529 + Nonsense_Mutation SNP C C A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 17 58740529 58740529 C A SNP PPM1D ENST00000305921 human ensembl 69_37n +1 known nonsense c.1434 p.C478* 0.999 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1D HGNC ENSG00000170836 35 0 0.00 30 8 21.05 - - - PPP5C 0 genome.wustl.edu 37 19 46893337 46893337 + Missense_Mutation SNP T T C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 19 46893337 46893337 T C SNP PPP5C ENST00000012443 human ensembl 69_37n +1 known missense c.1385 p.I462T 1.000 smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5 pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC ENSG00000011485 30 0 0.00 28 15 34.88 - - - PTEN 0 genome.wustl.edu 37 10 89711928 89711929 + Frame_Shift_Del DEL AA AA - TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 10 89711928 89711929 AA - DEL PTEN ENST00000371953 human ensembl 69_37n +1 known frame_shift_del c.546_547 p.K183fs 1.000:1.000 smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 53 0 0.00 39 16 29.09 - - - PTPRO 0 genome.wustl.edu 37 12 15636960 15636960 + Missense_Mutation SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 12 15636960 15636960 C T SNP PTPRO ENST00000281171 human ensembl 69_37n +1 known missense c.128 p.S43L 0.998 superfamily_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 45 0 0.00 34 10 22.73 - - - RAB3IL1 0 genome.wustl.edu 37 11 61674931 61674931 + Missense_Mutation SNP C C G TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 11 61674931 61674931 C G SNP RAB3IL1 ENST00000394836 human ensembl 69_37n -1 known missense c.372 p.K124N 1.000 pfam_Sec2p pfam_Sec2p - no_errors RAB3IL1 HGNC ENSG00000167994 42 0 0.00 43 5 10.42 - - - RBBP7 0 genome.wustl.edu 37 X 16863950 16863950 + Splice_Site SNP C C A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 X 16863950 16863950 C A SNP RBBP7 ENST00000380087 human ensembl 69_37n -1 known splice_site c.1209+1 e11+1 1.000 - - - no_errors RBBP7 HGNC ENSG00000102054 54 0 0.00 40 14 25.93 - - - SIX4 0 genome.wustl.edu 37 14 61180171 61180171 + Missense_Mutation SNP G G A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 14 61180171 61180171 G A SNP SIX4 ENST00000216513 human ensembl 69_37n -1 known missense c.2300 p.A767V 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX4 HGNC ENSG00000100625 58 0 0.00 38 11 22.45 - - - SLC24A4 0 genome.wustl.edu 37 14 92909751 92909751 + Missense_Mutation SNP G G A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 14 92909751 92909751 G A SNP SLC24A4 ENST00000532405 human ensembl 69_37n +1 known missense c.590 p.R197H 0.001 pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like - no_errors SLC24A4 HGNC ENSG00000140090 33 0 0.00 27 12 30.77 - - - SLC35E2 0 genome.wustl.edu 37 1 1666251 1666251 + Missense_Mutation SNP G G A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 1 1666251 1666251 G A SNP SLC35E2 ENST00000246421 human ensembl 69_37n -1 known missense c.610 p.R204W 0.979 NULL pfam_DMT - no_errors SLC35E2 HGNC ENSG00000215790 19 0 0.00 5 8 61.54 - - - SLC9A8 0 genome.wustl.edu 37 20 48479578 48479578 + Missense_Mutation SNP A A T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 20 48479578 48479578 A T SNP SLC9A8 ENST00000417961 human ensembl 69_37n +1 known missense c.874 p.T292S 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 63 0 0.00 81 10 10.99 - - - SLFN11 0 genome.wustl.edu 37 17 33679925 33679925 + Nonsense_Mutation SNP G G C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 17 33679925 33679925 G C SNP SLFN11 ENST00000308377 human ensembl 69_37n -1 known nonsense c.2156 p.S719* 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN11 HGNC ENSG00000172716 45 0 0.00 34 12 26.09 - - - SMC3 0 genome.wustl.edu 37 10 112362317 112362317 + Missense_Mutation SNP G G A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 10 112362317 112362317 G A SNP SMC3 ENST00000361804 human ensembl 69_37n +1 known missense c.3191 p.G1064D 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 63 0 0.00 34 8 19.05 - - - SS18 0 genome.wustl.edu 37 18 23658072 23658072 + Missense_Mutation SNP A A T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 18 23658072 23658072 A T SNP SS18 ENST00000415083 human ensembl 69_37n -1 known missense c.199 p.S67T 1.000 pfam_SSXT pfam_SSXT - no_errors SS18 HGNC ENSG00000141380 104 0 0.00 42 22 34.38 - - - TAB3 0 genome.wustl.edu 37 X 30873374 30873374 + Silent SNP G G A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 X 30873374 30873374 G A SNP TAB3 ENST00000288422 human ensembl 69_37n -1 known silent c.408 p.N136 0.999 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 51 0 0.00 48 17 26.15 - - - TACC3 0 genome.wustl.edu 37 4 1742588 1742588 + Nonsense_Mutation SNP G G T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 4 1742588 1742588 G T SNP TACC3 ENST00000313288 human ensembl 69_37n +1 known nonsense c.2098 p.E700* 0.000 pfam_TACC pfam_TACC - no_errors TACC3 HGNC ENSG00000013810 26 0 0.00 16 6 27.27 - - - TAOK1 0 genome.wustl.edu 37 17 27778590 27778590 + Silent SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 17 27778590 27778590 C T SNP TAOK1 ENST00000261716 human ensembl 69_37n +1 known silent c.24 p.G8 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK1 HGNC ENSG00000160551 29 0 0.00 29 6 17.14 - - - TBC1D4 0 genome.wustl.edu 37 13 75900540 75900540 + Missense_Mutation SNP G G A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 13 75900540 75900540 G A SNP TBC1D4 ENST00000377636 human ensembl 69_37n -1 known missense c.1826 p.S609F 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 42 0 0.00 37 9 19.57 - - - TBC1D8 0 genome.wustl.edu 37 2 101638182 101638182 + Missense_Mutation SNP C C G TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 2 101638182 101638182 C G SNP TBC1D8 ENST00000409318 human ensembl 69_37n -1 known missense c.2788 p.E930Q 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8 HGNC ENSG00000204634 64 0 0.00 41 9 18.00 - - - TBX22 0 genome.wustl.edu 37 X 79279656 79279656 + Missense_Mutation SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 X 79279656 79279656 C T SNP TBX22 ENST00000373294 human ensembl 69_37n +1 known missense c.451 p.R151C 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 66 0 0.00 47 18 27.69 - - - TCP10 0 genome.wustl.edu 37 6 167796310 167796310 + Missense_Mutation SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 6 167796310 167796310 C T SNP TCP10 ENST00000397829 human ensembl 69_37n -1 known missense c.52 p.G18R 0.000 NULL NULL - no_errors TCP10 HGNC ENSG00000203690 34 0 0.00 28 4 12.50 - - - TLN1 0 genome.wustl.edu 37 9 35713277 35713277 + Missense_Mutation SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 9 35713277 35713277 C T SNP TLN1 ENST00000314888 human ensembl 69_37n -1 known missense c.3268 p.D1090N 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN1 HGNC ENSG00000137076 35 0 0.00 24 9 27.27 - - - TMCO2 0 genome.wustl.edu 37 1 40713810 40713810 + Missense_Mutation SNP C C G TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 1 40713810 40713810 C G SNP TMCO2 ENST00000372766 human ensembl 69_37n +1 known missense c.145 p.P49A 0.997 NULL NULL - no_errors TMCO2 HGNC ENSG00000188800 59 0 0.00 55 12 17.91 - - - TMPRSS6 0 genome.wustl.edu 37 22 37492106 37492106 + Silent SNP G G A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 22 37492106 37492106 G A SNP TMPRSS6 ENST00000381792 human ensembl 69_37n -1 known silent c.429 p.F143 1.000 pirsf_Pept_S1A_matriptase-2,pfam_SEA pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6 - no_errors TMPRSS6 HGNC ENSG00000187045 17 0 0.00 15 6 28.57 - - - TP53 0 genome.wustl.edu 37 17 7578408 7578408 + Frame_Shift_Del DEL C C - TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 17 7578408 7578408 C - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.522 p.R174fs 0.992 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 34 0 0.00 18 5 21.74 - - - TRIM23 0 genome.wustl.edu 37 5 64905155 64905155 + Missense_Mutation SNP C C A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 5 64905155 64905155 C A SNP TRIM23 ENST00000231524 human ensembl 69_37n -1 known missense c.959 p.W320L 1.000 smart_Bbox_C pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,tigrfam_Small_GTP-bd_dom - no_errors TRIM23 HGNC ENSG00000113595 63 0 0.00 42 9 17.65 - - - TRIO 0 genome.wustl.edu 37 5 14358362 14358362 + Missense_Mutation SNP G G C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 5 14358362 14358362 G C SNP TRIO ENST00000344204 human ensembl 69_37n +1 known missense c.2122 p.D708H 1.000 smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 24 0 0.00 11 6 35.29 - - - TTC37 0 genome.wustl.edu 37 5 94852114 94852114 + Splice_Site SNP C C A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 5 94852114 94852114 C A SNP TTC37 ENST00000358746 human ensembl 69_37n -1 known splice_site c.2578-1 e22-1 1.000 - - - no_errors TTC37 HGNC ENSG00000198677 39 0 0.00 29 10 25.64 - - - UHRF1BP1 0 genome.wustl.edu 37 6 34803151 34803151 + Silent SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 6 34803151 34803151 C T SNP UHRF1BP1 ENST00000192788 human ensembl 69_37n +1 known silent c.750 p.L250 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 43 0 0.00 48 8 14.29 - - - USP33 0 genome.wustl.edu 37 1 78205076 78205076 + Missense_Mutation SNP G G T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 1 78205076 78205076 G T SNP USP33 ENST00000357428 human ensembl 69_37n -1 known missense c.318 p.N106K 0.996 pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP33 HGNC ENSG00000077254 78 0 0.00 58 11 15.94 - - - USP51 0 genome.wustl.edu 37 X 55513916 55513916 + Missense_Mutation SNP T T C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 X 55513916 55513916 T C SNP USP51 ENST00000500968 human ensembl 69_37n -1 known missense c.1457 p.Q486R 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP51 HGNC ENSG00000247746 47 0 0.00 37 13 26.00 - - - USP6NL 0 genome.wustl.edu 37 10 11505403 11505403 + Silent SNP A A C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 10 11505403 11505403 A C SNP USP6NL ENST00000277575 human ensembl 69_37n -1 known silent c.1575 p.G525 0.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors USP6NL HGNC ENSG00000148429 37 0 0.00 48 8 14.29 - - - VWCE 0 genome.wustl.edu 37 11 61026260 61026260 + Missense_Mutation SNP G G A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 11 61026260 61026260 G A SNP VWCE ENST00000335613 human ensembl 69_37n -1 known missense c.2755 p.R919C 0.033 NULL pfam_VWF_C,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC ENSG00000167992 19 0 0.00 20 11 35.48 - - - XKR7 0 genome.wustl.edu 37 20 30585069 30585069 + Missense_Mutation SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 20 30585069 30585069 C T SNP XKR7 ENST00000217299 human ensembl 69_37n +1 known missense c.1549 p.R517W 1.000 NULL pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000101321 13 0 0.00 10 5 33.33 - - - ZFYVE19 0 genome.wustl.edu 37 15 41100005 41100005 + Missense_Mutation SNP G G C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 15 41100005 41100005 G C SNP ZFYVE19 ENST00000355341 human ensembl 69_37n +1 known missense c.218 p.G73A 0.000 superfamily_Znf_FYVE_PHD,smart_Znf_FYVE pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE19 HGNC ENSG00000166140 27 0 0.00 21 9 30.00 - - - ZMYM5 0 genome.wustl.edu 37 13 20398780 20398780 + Missense_Mutation SNP G G A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 13 20398780 20398780 G A SNP ZMYM5 ENST00000337963 human ensembl 69_37n -1 known missense c.1847 p.S616L 1.000 NULL pfam_Znf_MYM,smart_TRASH - no_errors ZMYM5 HGNC ENSG00000132950 56 0 0.00 35 9 20.45 - - - ZNF274 0 genome.wustl.edu 37 19 58724135 58724135 + Missense_Mutation SNP A A G TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 19 58724135 58724135 A G SNP ZNF274 ENST00000326804 human ensembl 69_37n +1 known missense c.1585 p.T529A 1.000 pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF274 HGNC ENSG00000171606 42 0 0.00 31 26 45.61 - - - ZNF462 0 genome.wustl.edu 37 9 109746549 109746552 + Frame_Shift_Del DEL TACC TACC - TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 TACC TACC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 9 109746549 109746552 TACC - DEL ZNF462 ENST00000457913 human ensembl 69_37n +1 known frame_shift_del c.7095_7098 p.T2366fs 0.998:1.000:1.000:1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 35 0 0.00 32 6 15.79 - - - ZNF544 0 genome.wustl.edu 37 19 58774007 58774007 + Missense_Mutation SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 19 58774007 58774007 C T SNP ZNF544 ENST00000269829 human ensembl 69_37n +1 known missense c.2035 p.H679Y 0.843 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 ZNF544 HGNC ENSG00000198131 38 0 0.00 17 13 43.33 - - - ZNF786 0 genome.wustl.edu 37 7 148767947 148767947 + Missense_Mutation SNP G G T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 7 148767947 148767947 G T SNP ZNF786 ENST00000491431 human ensembl 69_37n -1 known missense c.1917 p.H639Q 1.000 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 ZNF786 HGNC ENSG00000197362 24 0 0.00 18 4 18.18 - - - ZNF883 0 genome.wustl.edu 37 9 115760106 115760106 + RNA SNP C C G TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 9 115760106 115760106 C G SNP ZNF883 ENST00000427548 human ensembl 69_37n -1 known rna NULL NULL 0.967 - - - no_errors ZNF883 HGNC ENSG00000228623 76 0 0.00 65 8 10.96 - - - ZPBP2 0 genome.wustl.edu 37 17 38032947 38032947 + Missense_Mutation SNP C C T TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 17 38032947 38032947 C T SNP ZPBP2 ENST00000348931 human ensembl 69_37n +1 known missense c.902 p.P301L 1.000 pfam_Sp38-bd pfam_Sp38-bd,pfscan_Ig-like - no_errors ZPBP2 HGNC ENSG00000186075 67 0 0.00 72 217 75.09 - - - ZPBP2 0 genome.wustl.edu 37 17 38033019 38033019 + Missense_Mutation SNP C C G TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 91766158-e175-4270-bc01-8e853fc9f391 8d3b655a-a7d1-4a2d-90e6-a8b6aef059e2 17 38033019 38033019 C G SNP ZPBP2 ENST00000348931 human ensembl 69_37n +1 known missense c.974 p.S325C 0.740 pfam_Sp38-bd pfam_Sp38-bd,pfscan_Ig-like - no_errors ZPBP2 HGNC ENSG00000186075 80 0 0.00 84 215 71.91 - - -