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 ACTA2 0 genome.wustl.edu 37 10 90708572 90708572 + Missense_Mutation SNP C C T TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 10 90708572 90708572 C T SNP ACTA2 ENST00000224784 human ensembl 69_37n -1 known missense c.116 p.R39H 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTA2 HGNC ENSG00000107796 30 0 0.00 17 9 34.62 - - - ALOX15B 0 genome.wustl.edu 37 17 7942523 7942523 + Missense_Mutation SNP G G A TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 17 7942523 7942523 G A SNP ALOX15B ENST00000380183 human ensembl 69_37n +1 known missense c.50 p.G17D 0.991 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15B HGNC ENSG00000179593 39 0 0.00 16 10 38.46 - - - ASPH 0 genome.wustl.edu 37 8 62460693 62460693 + Silent SNP C C T TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 8 62460693 62460693 C T SNP ASPH ENST00000379454 human ensembl 69_37n -1 known silent c.1701 p.V567 0.996 NULL pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 74 0 0.00 43 19 30.65 - - - ATN1 0 genome.wustl.edu 37 12 7045008 7045008 + Missense_Mutation SNP G G A TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 12 7045008 7045008 G A SNP ATN1 ENST00000356654 human ensembl 69_37n +1 known missense c.578 p.G193E 0.623 NULL pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 51 0 0.00 42 5 10.64 - - - C11orf82 0 genome.wustl.edu 37 11 82639858 82639858 + Frame_Shift_Del DEL A A - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 11 82639858 82639858 A - DEL C11orf82 ENST00000430323 human ensembl 69_37n +1 known frame_shift_del c.153 p.N52fs 0.984 pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold-like pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold-like - no_errors C11orf82 HGNC ENSG00000165490 88 0 0.00 13 2 13.33 - - - C1RL 0 genome.wustl.edu 37 12 7249748 7249748 + Missense_Mutation SNP G G A TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 12 7249748 7249748 G A SNP C1RL ENST00000266542 human ensembl 69_37n -1 known missense c.703 p.P235S 1.000 superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module pfam_Peptidase_S1_S6,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors C1RL HGNC ENSG00000139178 40 0 0.00 25 4 13.79 - - - CCPG1 0 genome.wustl.edu 37 15 55653040 55653040 + Missense_Mutation SNP T T C TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 15 55653040 55653040 T C SNP CCPG1 ENST00000310958 human ensembl 69_37n -1 known missense c.931 p.R311G 0.995 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 89 0 0.00 13 4 23.53 - - - COBLL1 0 genome.wustl.edu 37 2 165551146 165551146 + Frame_Shift_Del DEL A A - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 2 165551146 165551146 A - DEL COBLL1 ENST00000194871 human ensembl 69_37n -1 known frame_shift_del c.3071 p.L1024fs 0.925 NULL pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 47 0 0.00 13 2 13.33 - - - DUS2L 0 genome.wustl.edu 37 16 68087509 68087509 + Missense_Mutation SNP T T A TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 16 68087509 68087509 T A SNP DUS2L ENST00000358896 human ensembl 69_37n +1 known missense c.215 p.V72D 0.992 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase,pfam_Ds-RNA-bd,smart_Ds-RNA-bd - no_errors DUS2L HGNC ENSG00000167264 56 0 0.00 43 28 39.44 - - - EEF2K 0 genome.wustl.edu 37 16 22262009 22262009 + Missense_Mutation SNP G G A TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 16 22262009 22262009 G A SNP EEF2K ENST00000263026 human ensembl 69_37n +1 known missense c.443 p.R148Q 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 44 0 0.00 40 9 18.37 - - - EEF2K 0 genome.wustl.edu 37 16 22295264 22295264 + Missense_Mutation SNP G G A TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 16 22295264 22295264 G A SNP EEF2K ENST00000263026 human ensembl 69_37n +1 known missense c.2125 p.A709T 1.000 pirsf_Elongation_factor_2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 28 0 0.00 24 4 14.29 - - - ELP2 0 genome.wustl.edu 37 18 33716295 33716295 + Frame_Shift_Del DEL A A - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 18 33716295 33716295 A - DEL ELP2 ENST00000358232 human ensembl 69_37n +1 known frame_shift_del c.243 p.G82fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000134759 127 0 0.00 14 2 12.50 - - - ERBB3 0 genome.wustl.edu 37 12 56495328 56495328 + Frame_Shift_Del DEL G G - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 12 56495328 56495328 G - DEL ERBB3 ENST00000267101 human ensembl 69_37n +1 known frame_shift_del c.3518 p.E1174fs 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 52 0 0.00 16 2 11.11 - - - FAM157B 0 genome.wustl.edu 37 9 141107536 141107537 + RNA INS - - GCA TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 9 141107536 141107537 - GCA INS FAM157B ENST00000446912 human ensembl 69_37n +1 known rna NULL NULL 0.033:0.036 - - - no_errors FAM157B HGNC ENSG00000233013 33 0 0.00 31 9 22.50 - - - FGFR1 0 genome.wustl.edu 37 8 38282147 38282147 + Silent SNP G G A TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 8 38282147 38282147 G A SNP FGFR1 ENST00000425967 human ensembl 69_37n -1 known silent c.909 p.N303 0.971 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR1 HGNC ENSG00000077782 73 0 0.00 58 30 34.09 - - - FLJ40852 0 genome.wustl.edu 37 7 141423729 141423729 + RNA DEL T T - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 7 141423729 141423729 T - DEL FLJ40852 ENST00000459753 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors RP5-894A10.5 Clone_based_vega_gene ENSG00000228775 82 0 0.00 11 2 15.38 - - - FRG1B 0 genome.wustl.edu 37 20 29612303 29612303 + RNA SNP T T G TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 20 29612303 29612303 T G SNP FRG1B ENST00000482423 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FRG1B HGNC ENSG00000149531 11 0 0.00 8 6 42.86 - - - INTS10 0 genome.wustl.edu 37 8 19677944 19677944 + Missense_Mutation SNP C C G TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 8 19677944 19677944 C G SNP INTS10 ENST00000397977 human ensembl 69_37n +1 known missense c.356 p.T119R 1.000 NULL NULL - no_errors INTS10 HGNC ENSG00000104613 107 0 0.00 25 6 19.35 - - - INTU 0 genome.wustl.edu 37 4 128637566 128637566 + Missense_Mutation SNP A A C TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 4 128637566 128637566 A C SNP INTU ENST00000335251 human ensembl 69_37n +1 known missense c.2804 p.K935T 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 150 0 0.00 14 8 36.36 - - - ITGB1 0 genome.wustl.edu 37 10 33212629 33212629 + Missense_Mutation SNP A A G TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 10 33212629 33212629 A G SNP ITGB1 ENST00000374956 human ensembl 69_37n -1 known missense c.826 p.F276L 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB1 HGNC ENSG00000150093 24 0 0.00 20 9 29.03 - - - KIFC1 0 genome.wustl.edu 37 6 33374639 33374639 + Missense_Mutation SNP G G A TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 6 33374639 33374639 G A SNP KIFC1 ENST00000428849 human ensembl 69_37n +1 known missense c.1964 p.R655H 0.997 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 98 0 0.00 53 7 11.67 - - - KLHL6 0 genome.wustl.edu 37 3 183209883 183209883 + Silent SNP C C A TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 3 183209883 183209883 C A SNP KLHL6 ENST00000341319 human ensembl 69_37n -1 known silent c.1698 p.R566 0.305 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC ENSG00000172578 19 0 0.00 17 13 43.33 - - - LRRC47 0 genome.wustl.edu 37 1 3697704 3697704 + Missense_Mutation SNP G G C TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 1 3697704 3697704 G C SNP LRRC47 ENST00000378251 human ensembl 69_37n -1 known missense c.1700 p.P567R 0.999 NULL pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd - no_errors LRRC47 HGNC ENSG00000130764 35 0 0.00 30 10 25.00 - - - MBIP 0 genome.wustl.edu 37 14 36783776 36783776 + Frame_Shift_Del DEL T T - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 14 36783776 36783776 T - DEL MBIP ENST00000416007 human ensembl 69_37n -1 known frame_shift_del c.513 p.A172fs 1.000 NULL NULL - no_errors MBIP HGNC ENSG00000151332 86 0 0.00 10 2 16.67 - - - MEG9 0 genome.wustl.edu 37 14 101539147 101539147 + RNA DEL A A - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 14 101539147 101539147 A - DEL MEG9 ENST00000429368 human ensembl 69_37n +1 known rna NULL NULL 0.059 - - - no_errors MEG9 HGNC ENSG00000223403 8 0 0.00 4 2 33.33 - - - MMD 0 genome.wustl.edu 37 17 53491548 53491548 + Silent SNP A A T TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 17 53491548 53491548 A T SNP MMD ENST00000262065 human ensembl 69_37n -1 known silent c.72 p.T24 0.968 pfam_HlyIII-related pfam_HlyIII-related,tigrfam_HylIII - no_errors MMD HGNC ENSG00000108960 121 0 0.00 52 14 21.21 - - - MMP14 0 genome.wustl.edu 37 14 23314529 23314529 + Silent SNP A A G TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 14 23314529 23314529 A G SNP MMP14 ENST00000311852 human ensembl 69_37n +1 known silent c.1371 p.E457 1.000 pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP14 HGNC ENSG00000157227 48 0 0.00 17 12 41.38 - - - MSH6 0 genome.wustl.edu 37 2 48027782 48027782 + Frame_Shift_Del DEL T T - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 2 48027782 48027782 T - DEL MSH6 ENST00000234420 human ensembl 69_37n +1 known frame_shift_del c.2660 p.K888fs 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP - no_errors MSH6 HGNC ENSG00000116062 45 0 0.00 14 2 12.50 - - - MYH2 0 genome.wustl.edu 37 17 10443330 10443330 + Silent SNP C C T TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 17 10443330 10443330 C T SNP MYH2 ENST00000245503 human ensembl 69_37n -1 known silent c.1062 p.K354 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 121 0 0.00 30 23 43.40 - - - MYO7B 0 genome.wustl.edu 37 2 128334255 128334255 + Missense_Mutation SNP C C T TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 2 128334255 128334255 C T SNP MYO7B ENST00000389524 human ensembl 69_37n +1 known missense c.821 p.T274M 0.001 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 33 0 0.00 32 4 11.11 - - - NAA25 0 genome.wustl.edu 37 12 112509715 112509715 + Silent SNP G G A TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 12 112509715 112509715 G A SNP NAA25 ENST00000261745 human ensembl 69_37n -1 known silent c.1020 p.N340 0.108 pfam_N-acetylTrfase_B_cplx_non-cat pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 70 0 0.00 23 4 14.81 - - - NAE1 0 genome.wustl.edu 37 16 66839867 66839867 + Frame_Shift_Del DEL G G - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 16 66839867 66839867 G - DEL NAE1 ENST00000290810 human ensembl 69_37n -1 known frame_shift_del c.1393 p.L465fs 1.000 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB - no_errors NAE1 HGNC ENSG00000159593 68 0 0.00 14 2 12.50 - - - NDUFB5 0 genome.wustl.edu 37 3 179334812 179334812 + Frame_Shift_Del DEL G G - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 3 179334812 179334812 G - DEL NDUFB5 ENST00000259037 human ensembl 69_37n +1 known frame_shift_del c.322 p.E108fs 1.000 pfam_NADH_UbQ_OxRdtase_B5_su pfam_NADH_UbQ_OxRdtase_B5_su - no_errors NDUFB5 HGNC ENSG00000136521 52 0 0.00 14 2 12.50 - - - NEMF 0 genome.wustl.edu 37 14 50281529 50281529 + Missense_Mutation SNP T T C TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 14 50281529 50281529 T C SNP NEMF ENST00000298310 human ensembl 69_37n -1 known missense c.1624 p.I542V 1.000 pfam_DUF814 pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom - no_errors NEMF HGNC ENSG00000165525 137 0 0.00 25 11 30.56 - - - NFAT5 0 genome.wustl.edu 37 16 69725862 69725862 + Missense_Mutation SNP G G T TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 16 69725862 69725862 G T SNP NFAT5 ENST00000432919 human ensembl 69_37n +1 known missense c.2134 p.A712S 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 74 0 0.00 23 15 39.47 - - - NFXL1 0 genome.wustl.edu 37 4 47901430 47901430 + Frame_Shift_Del DEL A A - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 4 47901430 47901430 A - DEL NFXL1 ENST00000381538 human ensembl 69_37n -1 known frame_shift_del c.783 p.F261fs 1.000 NULL pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING - no_errors NFXL1 HGNC ENSG00000170448 50 0 0.00 15 2 11.76 - - - NOP14 0 genome.wustl.edu 37 4 2945909 2945909 + Silent SNP C C T TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 4 2945909 2945909 C T SNP NOP14 ENST00000416614 human ensembl 69_37n -1 known silent c.1782 p.V594 1.000 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 60 0 0.00 32 4 11.11 - - - NPC1 0 genome.wustl.edu 37 18 21136530 21136530 + Missense_Mutation SNP A A T TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 18 21136530 21136530 A T SNP NPC1 ENST00000269228 human ensembl 69_37n -1 known missense c.1003 p.L335M 0.002 tigrfam_NP_C_type pfam_Patched,pfam_MMPL-typ,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 38 0 0.00 33 4 10.81 - - - NPTX2 0 genome.wustl.edu 37 7 98257809 98257809 + Silent SNP T T C TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 7 98257809 98257809 T C SNP NPTX2 ENST00000265634 human ensembl 69_37n +1 known silent c.1164 p.I388 0.333 pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin - no_errors NPTX2 HGNC ENSG00000106236 70 0 0.00 53 12 18.46 - - - OR1Q1 0 genome.wustl.edu 37 9 125377241 125377241 + Silent SNP C C T TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 9 125377241 125377241 C T SNP OR1Q1 ENST00000297913 human ensembl 69_37n +1 known silent c.225 p.S75 0.577 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR1Q1 HGNC ENSG00000165202 102 0 0.00 73 35 32.41 - - - OR2D2 0 genome.wustl.edu 37 11 6913561 6913561 + Silent SNP T T G TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 11 6913561 6913561 T G SNP OR2D2 ENST00000299459 human ensembl 69_37n -1 known silent c.171 p.T57 0.996 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2D2 HGNC ENSG00000166368 82 0 0.00 49 9 15.52 - - - PASK 0 genome.wustl.edu 37 2 242065791 242065791 + Missense_Mutation SNP C C G TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 2 242065791 242065791 C G SNP PASK ENST00000358649 human ensembl 69_37n -1 known missense c.2539 p.V847L 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_cat_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 60 0 0.00 28 30 51.72 - - - PCDHGA11 0 genome.wustl.edu 37 5 140802474 140802474 + Silent SNP G G A TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 5 140802474 140802474 G A SNP PCDHGA11 ENST00000398587 human ensembl 69_37n +1 known silent c.1680 p.A560 0.000 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 65 0 0.00 11 13 54.17 - - - PCDHGA4 0 genome.wustl.edu 37 5 140735269 140735269 + Frame_Shift_Del DEL C C - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 5 140735269 140735269 C - DEL PCDHGA4 ENST00000571252 human ensembl 69_37n +1 known frame_shift_del c.502 p.Q168fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 54 0 0.00 13 2 13.33 - - - PRAMEF18 0 genome.wustl.edu 37 1 13474849 13474849 + Missense_Mutation SNP G G A TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 1 13474849 13474849 G A SNP PRAMEF18 ENST00000376126 human ensembl 69_37n -1 known missense c.1280 p.S427L 0.000 NULL NULL - no_errors PRAMEF18 HGNC ENSG00000204491 34 0 0.00 19 3 13.64 - - - PRR14L 0 genome.wustl.edu 37 22 32121576 32121576 + Frame_Shift_Del DEL G G - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 22 32121576 32121576 G - DEL PRR14L ENST00000397493 human ensembl 69_37n -1 known frame_shift_del c.495 p.S166fs 0.639 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 54 0 0.00 17 2 10.53 - - - PRX 0 genome.wustl.edu 37 19 40901699 40901699 + Silent SNP G G A TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 19 40901699 40901699 G A SNP PRX ENST00000324001 human ensembl 69_37n -1 known silent c.2560 p.L854 0.155 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 23 0 0.00 133 35 20.83 - - - PRX 0 genome.wustl.edu 37 19 40902909 40902909 + Silent SNP G G C TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 19 40902909 40902909 G C SNP PRX ENST00000324001 human ensembl 69_37n -1 known silent c.1350 p.V450 0.483 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 18 0 0.00 30 11 26.83 - - - PRX 0 genome.wustl.edu 37 19 40903119 40903119 + Silent SNP G G C TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 19 40903119 40903119 G C SNP PRX ENST00000324001 human ensembl 69_37n -1 known silent c.1140 p.V380 0.426 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 10 0 0.00 24 11 31.43 - - - PSMA3 0 genome.wustl.edu 37 14 58727696 58727696 + Silent SNP C C T TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 14 58727696 58727696 C T SNP PSMA3 ENST00000216455 human ensembl 69_37n +1 known silent c.435 p.D145 0.838 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA3 HGNC ENSG00000100567 80 0 0.00 25 4 13.79 - - - RFX2 0 genome.wustl.edu 37 19 6007781 6007781 + Missense_Mutation SNP G G A TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 19 6007781 6007781 G A SNP RFX2 ENST00000589340 human ensembl 69_37n -1 putative missense c.154 p.P52S 0.989 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RFX2 HGNC ENSG00000087903 53 0 0.00 34 9 20.93 - - - RYR3 0 genome.wustl.edu 37 15 34105734 34105734 + Missense_Mutation SNP G G C TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 15 34105734 34105734 G C SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.10456 p.A3486P 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 48 0 0.00 20 8 28.57 - - - RYR3 0 genome.wustl.edu 37 15 34140623 34140623 + Splice_Site SNP G G A TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 15 34140623 34140623 G A SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known splice_site c.13628+1 e94+1 1.000 - - - no_errors RYR3 HGNC ENSG00000198838 30 0 0.00 12 4 25.00 - - - SBNO1 0 genome.wustl.edu 37 12 123800123 123800123 + Frame_Shift_Del DEL G G - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 12 123800123 123800123 G - DEL SBNO1 ENST00000420886 human ensembl 69_37n -1 known frame_shift_del c.3020 p.S1007fs 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 109 0 0.00 30 7 18.92 - - - SIN3B 0 genome.wustl.edu 37 19 16976441 16976442 + Frame_Shift_Ins INS - - C TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 19 16976441 16976442 - C INS SIN3B ENST00000379803 human ensembl 69_37n +1 known frame_shift_ins c.1700_1701 p.V569fs 0.974:0.500 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 11 0 0.00 15 6 28.57 - - - SLC16A4 0 genome.wustl.edu 37 1 110919758 110919758 + Missense_Mutation SNP A A C TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 1 110919758 110919758 A C SNP SLC16A4 ENST00000369779 human ensembl 69_37n -1 known missense c.1056 p.I352M 0.477 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 108 0 0.00 19 8 29.63 - - - SLITRK1 0 genome.wustl.edu 37 13 84453897 84453897 + Silent SNP G G A TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 13 84453897 84453897 G A SNP SLITRK1 ENST00000377084 human ensembl 69_37n -1 known silent c.1746 p.Y582 0.990 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 80 0 0.00 55 12 17.91 - - - SMEK1 0 genome.wustl.edu 37 14 91937280 91937280 + Missense_Mutation SNP C C T TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 14 91937280 91937280 C T SNP SMEK1 ENST00000554943 human ensembl 69_37n -1 known missense c.1561 p.E521K 1.000 superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC ENSG00000100796 63 0 0.00 16 8 33.33 - - - SYDE1 0 genome.wustl.edu 37 19 15224594 15224594 + Silent SNP C C T TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 19 15224594 15224594 C T SNP SYDE1 ENST00000342784 human ensembl 69_37n +1 known silent c.2028 p.D676 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 43 0 0.00 28 20 41.67 - - - TCOF1 0 genome.wustl.edu 37 5 149755799 149755799 + Missense_Mutation SNP C C T TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 5 149755799 149755799 C T SNP TCOF1 ENST00000451292 human ensembl 69_37n +1 known missense c.2048 p.A683V 0.002 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 66 0 0.00 17 10 37.04 - - - TMEM106A 0 genome.wustl.edu 37 17 41365219 41365219 + Missense_Mutation SNP T T G TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 17 41365219 41365219 T G SNP TMEM106A ENST00000331615 human ensembl 69_37n +1 known missense c.159 p.D53E 0.002 pfam_DUF1356_TMEM106 pfam_DUF1356_TMEM106 - no_errors TMEM106A HGNC ENSG00000184988 42 0 0.00 23 15 39.47 - - - TMTC4 0 genome.wustl.edu 37 13 101264696 101264696 + Missense_Mutation SNP T T A TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 13 101264696 101264696 T A SNP TMTC4 ENST00000342624 human ensembl 69_37n -1 known missense c.2020 p.M674L 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 119 0 0.00 39 17 30.36 - - - TNXB 0 genome.wustl.edu 37 6 32025869 32025869 + Silent SNP C C T TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 6 32025869 32025869 C T SNP TNXB ENST00000375247 human ensembl 69_37n -1 known silent c.7791 p.R2597 0.325 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 15 0 0.00 11 4 26.67 - - - TP53 0 genome.wustl.edu 37 17 7578551 7578551 + Missense_Mutation SNP A A G TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 17 7578551 7578551 A G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.379 p.S127P 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 56 0 0.00 15 14 48.28 - - - TSG101 0 genome.wustl.edu 37 11 18537699 18537699 + Frame_Shift_Del DEL C C - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 11 18537699 18537699 C - DEL TSG101 ENST00000251968 human ensembl 69_37n -1 known frame_shift_del c.140 p.G47fs 1.000 pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD - no_errors TSG101 HGNC ENSG00000074319 52 0 0.00 14 2 12.50 - - - TTN 0 genome.wustl.edu 37 2 179404659 179404659 + Frame_Shift_Del DEL T T - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 2 179404659 179404659 T - DEL TTN ENST00000342992 human ensembl 69_37n -1 known frame_shift_del c.90429 p.E30144fs 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 81 0 0.00 13 2 13.33 - - - ZFAND4 0 genome.wustl.edu 37 10 46143870 46143870 + Frame_Shift_Del DEL T T - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 10 46143870 46143870 T - DEL ZFAND4 ENST00000344646 human ensembl 69_37n -1 known frame_shift_del c.441 p.G148fs 1.000 NULL pfam_Ubiquitin,pfam_Znf_AN1,smart_Ubiquitin,smart_Znf_AN1,prints_Ubiquitin_subgr,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup - no_errors ZFAND4 HGNC ENSG00000172671 76 0 0.00 16 2 11.11 - - - ZNF208 0 genome.wustl.edu 37 19 22155521 22155521 + Missense_Mutation SNP G G A TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34eb095d-3d44-4c59-9ef5-94592ba97900 9a86338f-4176-4931-ba32-457e92d4b0dc 19 22155521 22155521 G A SNP ZNF208 ENST00000397126 human ensembl 69_37n -1 known missense c.2315 p.T772I 0.989 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 37 0 0.00 14 5 26.32 - - -