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 ABCA13 0 genome.wustl.edu 37 7 48567933 48567933 + Missense_Mutation SNP T T A TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 7 48567933 48567933 T A SNP ABCA13 ENST00000453246 human ensembl 69_37n +1 known missense c.3142 p.S1048T 0.166 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ABCA13 HGNC ENSG00000179869 217 0 0.00 315 36 10.23 - - - ABCB1 0 genome.wustl.edu 37 7 87175263 87175263 + Silent SNP G G A TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 7 87175263 87175263 G A SNP ABCB1 ENST00000265724 human ensembl 69_37n -1 known silent c.1803 p.F601 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ENSG00000085563 136 0 0.00 174 32 15.53 - - - ANKRD11 0 genome.wustl.edu 37 16 89347633 89347633 + Nonsense_Mutation SNP C C A TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 16 89347633 89347633 C A SNP ANKRD11 ENST00000301030 human ensembl 69_37n -1 known nonsense c.5317 p.E1773* 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 95 0 0.00 34 9 20.93 - - - ANKRD32 0 genome.wustl.edu 37 5 94014648 94014648 + Missense_Mutation SNP C C G TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 5 94014648 94014648 C G SNP ANKRD32 ENST00000265140 human ensembl 69_37n +1 known missense c.1963 p.L655V 0.994 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD32 HGNC ENSG00000133302 378 0 0.00 228 67 22.64 - - - ATG9B 0 genome.wustl.edu 37 7 150718275 150718276 + RNA INS - - G TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 7 150718275 150718276 - G INS ATG9B ENST00000377974 human ensembl 69_37n -1 known rna NULL NULL 1.000:1.000 - - - no_errors ATG9B HGNC ENSG00000181652 50 0 0.00 24 3 11.11 - - - ATP1A1 0 genome.wustl.edu 37 1 116936238 116936238 + Missense_Mutation SNP G G A TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 1 116936238 116936238 G A SNP ATP1A1 ENST00000295598 human ensembl 69_37n +1 known missense c.1553 p.C518Y 1.000 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,prints_ATPase_P-typ_cation-exchng_asu,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 ATP1A1 HGNC ENSG00000163399 290 0 0.00 228 86 27.39 - - - BMP15 0 genome.wustl.edu 37 X 50654112 50654112 + Splice_Site SNP G G A TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e X 50654112 50654112 G A SNP BMP15 ENST00000252677 human ensembl 69_37n +1 known splice_site c.328+1 e1+1 1.000 - - - no_errors BMP15 HGNC ENSG00000130385 9 0 0.00 9 4 30.77 - - - C14orf43 0 genome.wustl.edu 37 14 74205696 74205696 + Frame_Shift_Del DEL T T - TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 14 74205696 74205696 T - DEL C14orf43 ENST00000286523 human ensembl 69_37n -1 known frame_shift_del c.1016 p.Q339fs 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors C14orf43 HGNC ENSG00000156030 34 0 0.00 30 6 14.63 - - - C5orf52 0 genome.wustl.edu 37 5 157102201 157102202 + In_Frame_Ins INS - - CTT TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 5 157102201 157102202 - CTT INS C5orf52 ENST00000409999 human ensembl 69_37n +1 known in_frame_ins c.314_315 p.E105in_frame_insDL 0.987:0.974 NULL NULL - no_errors C5orf52 HGNC ENSG00000187658 123 0 0.00 83 36 30.25 - - - C5orf52 0 genome.wustl.edu 37 5 157102203 157102204 + Frame_Shift_Ins INS - - AC TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 5 157102203 157102204 - AC INS C5orf52 ENST00000409999 human ensembl 69_37n +1 known frame_shift_ins c.316_317 p.M106fs 0.970:0.974 NULL NULL - no_errors C5orf52 HGNC ENSG00000187658 121 0 0.00 72 36 33.33 - - - CACNG2 0 genome.wustl.edu 37 22 36983554 36983554 + Missense_Mutation SNP C C T TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 22 36983554 36983554 C T SNP CACNG2 ENST00000300105 human ensembl 69_37n -1 known missense c.253 p.E85K 0.451 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g2su,prints_Claudin - no_errors CACNG2 HGNC ENSG00000166862 268 0 0.00 243 44 15.33 - - - CDC42BPA 0 genome.wustl.edu 37 1 227182616 227182616 + Missense_Mutation SNP G G A TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 1 227182616 227182616 G A SNP CDC42BPA ENST00000334218 human ensembl 69_37n -1 known missense c.5122 p.R1708W 1.000 NULL pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPA HGNC ENSG00000143776 156 0 0.00 134 173 55.99 - - - CEACAM18 0 genome.wustl.edu 37 19 51984819 51984819 + Silent SNP C C G TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 19 51984819 51984819 C G SNP CEACAM18 ENST00000451626 human ensembl 69_37n +1 known silent c.756 p.V252 0.002 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM18 HGNC ENSG00000213822 96 0 0.00 144 22 13.25 - - - CETP 0 genome.wustl.edu 37 16 57009014 57009014 + Missense_Mutation SNP C C T TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 16 57009014 57009014 C T SNP CETP ENST00000200676 human ensembl 69_37n +1 known missense c.932 p.A311V 0.006 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer - no_errors CETP HGNC ENSG00000087237 383 0 0.00 199 52 20.55 - - - CFB 0 genome.wustl.edu 37 6 31911214 31911215 + Frame_Shift_Ins INS - - G TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 6 31911214 31911215 - G INS CFB ENST00000556679 human ensembl 69_37n +1 known frame_shift_ins c.1018_1019 p.A342fs 1.000:0.996 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1_S6,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CFB HGNC ENSG00000243649 8 0 0.00 4 2 33.33 - - - COL20A1 0 genome.wustl.edu 37 20 61959802 61959803 + Frame_Shift_Ins INS - - T TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 20 61959802 61959803 - T INS COL20A1 ENST00000326996 human ensembl 69_37n +1 known frame_shift_ins c.3829_3830 p.V1278fs 0.001:0.004 NULL pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 58 0 0.00 7 2 22.22 - - - DNAH8 0 genome.wustl.edu 37 6 38863942 38863942 + Missense_Mutation SNP G G A TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 6 38863942 38863942 G A SNP DNAH8 ENST00000359357 human ensembl 69_37n +1 known missense c.8230 p.E2744K 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 134 0 0.00 212 33 13.47 - - - DPP4 0 genome.wustl.edu 37 2 162875265 162875265 + Missense_Mutation SNP G G A TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 2 162875265 162875265 G A SNP DPP4 ENST00000360534 human ensembl 69_37n -1 known missense c.1394 p.A465V 0.877 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC ENSG00000197635 163 0 0.00 117 16 12.03 - - - ENSA 0 genome.wustl.edu 37 1 150600017 150600017 + Missense_Mutation SNP G G C TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 1 150600017 150600017 G C SNP ENSA ENST00000369009 human ensembl 69_37n -1 known missense c.109 p.L37V 1.000 NULL pfam_Endosulphine - no_errors ENSA HGNC ENSG00000143420 46 0 0.00 72 44 37.93 - - - FGG 0 genome.wustl.edu 37 4 155533328 155533328 + Missense_Mutation SNP C C T TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 4 155533328 155533328 C T SNP FGG ENST00000336098 human ensembl 69_37n -1 known missense c.149 p.G50D 1.000 pfam_Fibrinogen_a/b/g_coil_dom pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGG HGNC ENSG00000171557 151 0 0.00 92 67 42.14 - - - G6PD 0 genome.wustl.edu 37 X 153761880 153761880 + Missense_Mutation SNP C C T TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e X 153761880 153761880 C T SNP G6PD ENST00000369620 human ensembl 69_37n -1 known missense c.913 p.V305M 1.000 pfam_G6P_DH_C,pirsf_G6P_DH pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH - no_errors G6PD HGNC ENSG00000160211 124 0 0.00 59 15 20.27 - - - GAB4 0 genome.wustl.edu 37 22 17451008 17451008 + Missense_Mutation SNP C C A TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 22 17451008 17451008 C A SNP GAB4 ENST00000400588 human ensembl 69_37n -1 known missense c.762 p.Q254H 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 144 0 0.00 105 20 16.00 - - - GP5 0 genome.wustl.edu 37 3 194117824 194117824 + Silent SNP G G A TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 3 194117824 194117824 G A SNP GP5 ENST00000323007 human ensembl 69_37n -1 known silent c.1188 p.H396 0.588 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 17 0 0.00 14 4 22.22 - - - GPRASP2 0 genome.wustl.edu 37 X 101971946 101971946 + Missense_Mutation SNP G G T TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e X 101971946 101971946 G T SNP GPRASP2 ENST00000332262 human ensembl 69_37n +1 known missense c.2149 p.A717S 0.733 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 73 0 0.00 56 19 25.33 - - - H2AFZ 0 genome.wustl.edu 37 4 100870877 100870877 + Missense_Mutation SNP C C G TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 4 100870877 100870877 C G SNP H2AFZ ENST00000296417 human ensembl 69_37n -1 known missense c.24 p.K8N 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFZ HGNC ENSG00000164032 72 0 0.00 25 14 35.90 - - - HIBCH 0 genome.wustl.edu 37 2 191069855 191069855 + Missense_Mutation SNP A A C TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 2 191069855 191069855 A C SNP HIBCH ENST00000359678 human ensembl 69_37n -1 known missense c.1149 p.D383E 1.000 NULL pfam_Crotonase_core - no_errors HIBCH HGNC ENSG00000198130 265 0 0.00 179 63 26.03 - - - HNRNPUL1 0 genome.wustl.edu 37 19 41811615 41811615 + Missense_Mutation SNP G G C TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 19 41811615 41811615 G C SNP HNRNPUL1 ENST00000392006 human ensembl 69_37n +1 known missense c.2297 p.G766A 0.966 NULL pfam_SPRY_rcpt,pfam_SAP_DNA-bd,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPUL1 HGNC ENSG00000105323 257 1 0.39 139 49 26.06 - - - LMBRD1 0 genome.wustl.edu 37 6 70428924 70428924 + Missense_Mutation SNP C C T TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 6 70428924 70428924 C T SNP LMBRD1 ENST00000370577 human ensembl 69_37n -1 known missense c.686 p.S229N 0.996 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 115 0 0.00 141 23 14.02 - - - LRP1 0 genome.wustl.edu 37 12 57600299 57600299 + Frame_Shift_Del DEL C C - TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 12 57600299 57600299 C - DEL LRP1 ENST00000243077 human ensembl 69_37n +1 known frame_shift_del c.11634 p.R3879fs 1.000 superfamily_Growth_fac_rcpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 106 0 0.00 49 168 77.06 - - - LRP1 0 genome.wustl.edu 37 12 57600303 57600303 + Frame_Shift_Del DEL A A - TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 12 57600303 57600303 A - DEL LRP1 ENST00000243077 human ensembl 69_37n +1 known frame_shift_del c.11638 p.S3880fs 1.000 superfamily_Growth_fac_rcpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 114 0 0.00 53 168 74.34 - - - LRP1 0 genome.wustl.edu 37 12 57600307 57600307 + Frame_Shift_Del DEL T T - TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 12 57600307 57600307 T - DEL LRP1 ENST00000243077 human ensembl 69_37n +1 known frame_shift_del c.11642 p.L3881fs 1.000 superfamily_Growth_fac_rcpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 117 0 0.00 54 173 71.49 - - - LRP2BP 0 genome.wustl.edu 37 4 186296782 186296782 + Silent SNP C C T TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 4 186296782 186296782 C T SNP LRP2BP ENST00000362004 human ensembl 69_37n -1 known silent c.321 p.G107 0.997 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,pfam_TPR_2,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors LRP2BP HGNC ENSG00000109771 149 0 0.00 56 39 41.05 - - - MAP2K4 0 genome.wustl.edu 37 17 11958309 11958310 + Splice_Site INS - - T TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 17 11958309 11958310 - T INS MAP2K4 ENST00000415385 human ensembl 69_37n +1 known splice_site_ins c.251+1_251+1 e3+1 1.000:1.000 - - - no_errors MAP2K4 HGNC ENSG00000065559 160 0 0.00 43 98 69.50 - - - MUC4 0 genome.wustl.edu 37 3 195512343 195512343 + Silent SNP G G A TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 3 195512343 195512343 G A SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known silent c.6108 p.T2036 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 28 0 0.00 21 5 19.23 - - - MXD4 0 genome.wustl.edu 37 4 2252287 2252287 + Missense_Mutation SNP C C T TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 4 2252287 2252287 C T SNP MXD4 ENST00000337190 human ensembl 69_37n -1 known missense c.614 p.R205H 0.908 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors MXD4 HGNC ENSG00000123933 20 0 0.00 5 6 50.00 - - - NF1 0 genome.wustl.edu 37 17 29657384 29657384 + Missense_Mutation SNP G G C TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 17 29657384 29657384 G C SNP NF1 ENST00000358273 human ensembl 69_37n +1 known missense c.5680 p.E1894Q 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 173 0 0.00 128 32 20.00 - - - NFASC 0 genome.wustl.edu 37 1 204938069 204938069 + Missense_Mutation SNP A A G TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 1 204938069 204938069 A G SNP NFASC ENST00000367172 human ensembl 69_37n +1 known missense c.962 p.K321R 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like 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 NFASC HGNC ENSG00000163531 283 0 0.00 253 29 10.28 - - - NLRP1 0 genome.wustl.edu 37 17 5418124 5418124 + Nonsense_Mutation SNP C C A TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 17 5418124 5418124 C A SNP NLRP1 ENST00000572272 human ensembl 69_37n -1 known nonsense c.4372 p.E1458* 0.025 pfam_CARD,superfamily_DEATH-like,pfscan_CARD pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 290 0 0.00 109 35 24.14 - - - NRXN2 0 genome.wustl.edu 37 11 64375285 64375286 + Frame_Shift_Ins INS - - G TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 11 64375285 64375286 - G INS NRXN2 ENST00000265459 human ensembl 69_37n -1 known frame_shift_ins c.4522_4521 p.T1507fs 1.000:0.926 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 62 0 0.00 33 4 10.81 - - - OR51Q1 0 genome.wustl.edu 37 11 5443511 5443511 + Silent SNP C C A TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 11 5443511 5443511 C A SNP OR51Q1 ENST00000300778 human ensembl 69_37n +1 known silent c.81 p.I27 0.331 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51Q1 HGNC ENSG00000167360 252 0 0.00 318 54 14.52 - - - PCYOX1 0 genome.wustl.edu 37 2 70503936 70503936 + Silent SNP C C T TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 2 70503936 70503936 C T SNP PCYOX1 ENST00000433351 human ensembl 69_37n +1 known silent c.930 p.I310 0.516 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1 HGNC ENSG00000116005 43 0 0.00 40 5 11.11 - - - PER3 0 genome.wustl.edu 37 1 7844972 7844972 + Frame_Shift_Del DEL G G - TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 1 7844972 7844972 G - DEL PER3 ENST00000361923 human ensembl 69_37n +1 known frame_shift_del c.35 p.A14fs 0.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 23 0 0.00 2 6 60.00 - - - PHLDB3 0 genome.wustl.edu 37 19 44006351 44006351 + Missense_Mutation SNP G G A TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 19 44006351 44006351 G A SNP PHLDB3 ENST00000292140 human ensembl 69_37n -1 known missense c.298 p.R100C 0.993 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB3 HGNC ENSG00000176531 92 0 0.00 75 18 18.37 - - - PLOD3 0 genome.wustl.edu 37 7 100853849 100853849 + Missense_Mutation SNP G G A TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 7 100853849 100853849 G A SNP PLOD3 ENST00000454310 human ensembl 69_37n -1 novel missense c.188 p.T63I 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PLOD3 HGNC ENSG00000106397 120 0 0.00 147 41 21.58 - - - POLR3F 0 genome.wustl.edu 37 20 18462391 18462391 + Frame_Shift_Del DEL C C - TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 20 18462391 18462391 C - DEL POLR3F ENST00000377603 human ensembl 69_37n +1 known frame_shift_del c.810 p.Y270fs 0.998 pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34 pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34 - no_errors POLR3F HGNC ENSG00000132664 99 0 0.00 113 53 30.64 - - - PROX1 0 genome.wustl.edu 37 1 214170689 214170689 + Missense_Mutation SNP G G T TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 1 214170689 214170689 G T SNP PROX1 ENST00000261454 human ensembl 69_37n +1 known missense c.811 p.D271Y 1.000 pfam_Prox1 pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 109 0 0.00 151 30 16.57 - - - PTK7 0 genome.wustl.edu 37 6 43107257 43107257 + Missense_Mutation SNP C C T TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 6 43107257 43107257 C T SNP PTK7 ENST00000230419 human ensembl 69_37n +1 known missense c.1612 p.R538W 0.988 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors PTK7 HGNC ENSG00000112655 196 0 0.00 122 49 28.65 - - - RAB3C 0 genome.wustl.edu 37 5 57913553 57913553 + Missense_Mutation SNP C C G TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 5 57913553 57913553 C G SNP RAB3C ENST00000282878 human ensembl 69_37n +1 known missense c.108 p.I36M 0.912 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB3C HGNC ENSG00000152932 73 0 0.00 61 20 24.69 - - - RGAG1 0 genome.wustl.edu 37 X 109694759 109694759 + Missense_Mutation SNP G G T TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e X 109694759 109694759 G T SNP RGAG1 ENST00000465301 human ensembl 69_37n +1 known missense c.914 p.G305V 0.009 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 304 0 0.00 210 37 14.98 - - - RSL1D1 0 genome.wustl.edu 37 16 11940376 11940376 + Missense_Mutation SNP G G A TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 16 11940376 11940376 G A SNP RSL1D1 ENST00000571133 human ensembl 69_37n -1 known missense c.617 p.S206F 1.000 pfam_Ribosomal_L1,superfamily_Ribosomal_L1_SF pfam_Ribosomal_L1,superfamily_Ribosomal_L1_SF - no_errors RSL1D1 HGNC ENSG00000171490 97 0 0.00 139 27 16.17 - - - SLC9A3R1 0 genome.wustl.edu 37 17 72764791 72764791 + Missense_Mutation SNP T T C TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 17 72764791 72764791 T C SNP SLC9A3R1 ENST00000262613 human ensembl 69_37n +1 known missense c.1073 p.L358P 1.000 pfam_EBP50_C-term,pirsf_NaH_exchngr_reg_CF_NHE-RF pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ - no_errors SLC9A3R1 HGNC ENSG00000109062 77 0 0.00 21 9 30.00 - - - SLCO1A2 0 genome.wustl.edu 37 12 21445147 21445147 + Missense_Mutation SNP T T C TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 12 21445147 21445147 T C SNP SLCO1A2 ENST00000307378 human ensembl 69_37n -1 known missense c.1561 p.S521G 0.929 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC ENSG00000084453 189 0 0.00 85 12 12.37 - - - SPTBN5 0 genome.wustl.edu 37 15 42144894 42144894 + Frame_Shift_Del DEL G G - TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 15 42144894 42144894 G - DEL SPTBN5 ENST00000320955 human ensembl 69_37n -1 known frame_shift_del c.10387 p.Q3463fs 0.346 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 100 0 0.00 7 2 22.22 - - - TMTC3 0 genome.wustl.edu 37 12 88589349 88589349 + Missense_Mutation SNP A A G TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 12 88589349 88589349 A G SNP TMTC3 ENST00000266712 human ensembl 69_37n +1 known missense c.2668 p.I890V 1.000 NULL pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC ENSG00000139324 79 0 0.00 26 46 63.89 - - - TTC39A 0 genome.wustl.edu 37 1 51767913 51767913 + Frame_Shift_Del DEL C C - TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 1 51767913 51767913 C - DEL TTC39A ENST00000262676 human ensembl 69_37n -1 known frame_shift_del c.1103 p.G368fs 0.000 NULL pfam_OMP_IML2_mit/TPR_39 - no_errors TTC39A HGNC ENSG00000085831 16 0 0.00 4 2 33.33 - - - UBA7 0 genome.wustl.edu 37 3 49847490 49847490 + Missense_Mutation SNP G G A TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 3 49847490 49847490 G A SNP UBA7 ENST00000333486 human ensembl 69_37n -1 known missense c.1760 p.S587L 0.000 pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA7 HGNC ENSG00000182179 71 0 0.00 13 10 43.48 - - - YIPF4 0 genome.wustl.edu 37 2 32515694 32515694 + Missense_Mutation SNP C C A TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 2 32515694 32515694 C A SNP YIPF4 ENST00000238831 human ensembl 69_37n +1 known missense c.222 p.N74K 0.999 NULL pfam_Yip1 - no_errors YIPF4 HGNC ENSG00000119820 28 0 0.00 11 10 47.62 - - - ZC2HC1C 0 genome.wustl.edu 37 14 75537877 75537877 + Missense_Mutation SNP G G A TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 14 75537877 75537877 G A SNP ZC2HC1C ENST00000524913 human ensembl 69_37n +1 known missense c.601 p.A201T 0.000 NULL NULL - no_errors ZC2HC1C HGNC ENSG00000119703 200 0 0.00 254 29 10.21 - - - ZNF238 0 genome.wustl.edu 37 1 244218061 244218061 + Missense_Mutation SNP G G T TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 1 244218061 244218061 G T SNP ZNF238 ENST00000358704 human ensembl 69_37n +1 known missense c.985 p.D329Y 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF238 HGNC ENSG00000179456 129 0 0.00 175 38 17.84 - - - ZNF541 0 genome.wustl.edu 37 19 48049093 48049094 + Frame_Shift_Ins INS - - G TCGA-B6-A0IB-01A-11W-A050-09 TCGA-B6-A0IB-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ff80d5cd-7aed-499f-a472-153cc40f65de 0caeac20-293e-4c97-8074-3f9d78e5ef3e 19 48049093 48049094 - G INS ZNF541 ENST00000314121 human ensembl 69_37n -1 known frame_shift_ins c.693_692 p.E232fs 0.350:0.371 NULL pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors ZNF541 HGNC ENSG00000118156 12 0 0.00 4 3 42.86 - - -