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 ALMS1 0 genome.wustl.edu 37 2 73653617 73653617 + Missense_Mutation SNP C C A TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 2 73653617 73653617 C A SNP ALMS1 ENST00000264448 human ensembl 69_37n +1 known missense c.1274 p.T425N 0.002 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 105 0 0.00 29 26 47.27 - - - APOBR 0 genome.wustl.edu 37 16 28507445 28507445 + Missense_Mutation SNP G G C TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 16 28507445 28507445 G C SNP APOBR ENST00000564831 human ensembl 69_37n +1 known missense c.1083 p.E361D 0.310 NULL NULL - no_errors APOBR HGNC ENSG00000184730 13 0 0.00 10 5 33.33 - - - CBWD1 0 genome.wustl.edu 37 9 163985 163985 + Silent SNP A A G TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 9 163985 163985 A G SNP CBWD1 ENST00000356521 human ensembl 69_37n -1 known silent c.483 p.Y161 0.999 pfam_Cbl_biosynth_CobW-like pfam_Cbl_biosynth_CobW-like,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD1 HGNC ENSG00000172785 117 1 0.85 62 8 11.43 - - - CBX1 0 genome.wustl.edu 37 17 46148872 46148872 + Silent SNP T T A TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 17 46148872 46148872 T A SNP CBX1 ENST00000225603 human ensembl 69_37n -1 known silent c.483 p.I161 1.000 pfam_Chromo_shadow_dom,superfamily_Chromodomain-like,smart_Chromo_shadow_dom,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX1 HGNC ENSG00000108468 74 0 0.00 31 8 20.51 - - - CD3EAP 0 genome.wustl.edu 37 19 45912507 45912507 + Frame_Shift_Del DEL G G - TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 19 45912507 45912507 G - DEL CD3EAP ENST00000589804 human ensembl 69_37n +1 known frame_shift_del c.1287 p.E431fs 0.883 NULL pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 60 0 0.00 17 2 10.53 - - - CELSR1 0 genome.wustl.edu 37 22 46932208 46932208 + Missense_Mutation SNP A A G TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 22 46932208 46932208 A G SNP CELSR1 ENST00000262738 human ensembl 69_37n -1 known missense c.860 p.L287P 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 32 0 0.00 11 4 26.67 - - - CEP57L1 0 genome.wustl.edu 37 6 109483990 109483990 + Missense_Mutation SNP G G T TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 6 109483990 109483990 G T SNP CEP57L1 ENST00000359793 human ensembl 69_37n +1 known missense c.1200 p.M400I 0.912 NULL pfam_Cep57_MT-bd_dom - no_errors CEP57L1 HGNC ENSG00000183137 55 0 0.00 5 10 66.67 - - - COL6A5 0 genome.wustl.edu 37 3 130095411 130095411 + Silent SNP G G A TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 3 130095411 130095411 G A SNP COL6A5 ENST00000265379 human ensembl 69_37n +1 known silent c.399 p.Q133 0.293 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 64 0 0.00 28 15 34.88 - - - DCTN1 0 genome.wustl.edu 37 2 74595859 74595859 + Missense_Mutation SNP C C T TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 2 74595859 74595859 C T SNP DCTN1 ENST00000361874 human ensembl 69_37n -1 known missense c.1850 p.C617Y 1.000 pfam_Dynactin pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 66 0 0.00 20 13 39.39 - - - DHPS 0 genome.wustl.edu 37 19 12788175 12788175 + Silent SNP G G A TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 19 12788175 12788175 G A SNP DHPS ENST00000210060 human ensembl 69_37n -1 known silent c.714 p.D238 0.463 pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase - no_errors DHPS HGNC ENSG00000095059 55 0 0.00 17 16 48.48 - - - DHX40 0 genome.wustl.edu 37 17 57650594 57650594 + Frame_Shift_Del DEL A A - TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 17 57650594 57650594 A - DEL DHX40 ENST00000251241 human ensembl 69_37n +1 known frame_shift_del c.544 p.T182fs 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX40 HGNC ENSG00000108406 42 0 0.00 23 12 34.29 - - - ECEL1 0 genome.wustl.edu 37 2 233350770 233350771 + Frame_Shift_Ins INS - - A TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 2 233350770 233350771 - A INS ECEL1 ENST00000304546 human ensembl 69_37n -1 known frame_shift_ins c.594_593 p.R199fs 0.458:0.998 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 13 0 0.00 2 2 50.00 - - - FAM98C 0 genome.wustl.edu 37 19 38899502 38899504 + In_Frame_Del DEL AAG AAG - TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 19 38899502 38899504 AAG - DEL FAM98C ENST00000252530 human ensembl 69_37n +1 known in_frame_del c.1030_1032 p.K347in_frame_del 0.830:0.873:0.987 NULL pfam_Uncharacterised_FAM98 - no_errors FAM98C HGNC ENSG00000130244 33 0 0.00 9 2 18.18 - - - FAT3 0 genome.wustl.edu 37 11 92507304 92507304 + Missense_Mutation SNP G G C TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 11 92507304 92507304 G C SNP FAT3 ENST00000298047 human ensembl 69_37n +1 known missense c.4293 p.M1431I 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT3 HGNC ENSG00000165323 72 0 0.00 32 17 34.69 - - - GOLGA3 0 genome.wustl.edu 37 12 133351864 133351864 + Missense_Mutation SNP G G C TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 12 133351864 133351864 G C SNP GOLGA3 ENST00000204726 human ensembl 69_37n -1 known missense c.4006 p.Q1336E 0.984 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 89 0 0.00 25 10 28.57 - - - HTR2C 0 genome.wustl.edu 37 X 114141530 114141530 + Missense_Mutation SNP C C T TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 X 114141530 114141530 C T SNP HTR2C ENST00000276198 human ensembl 69_37n +1 known missense c.929 p.S310L 0.994 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT2C_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 150 1 0.66 13 30 69.77 - - - IGKV1-39 0 genome.wustl.edu 37 2 89619806 89619806 + Nonsense_Mutation SNP G G A TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 2 89619806 89619806 G A SNP IGKV1-39 ENST00000498574 human ensembl 69_37n -1 known nonsense c.52 p.R18* 0.010 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV1-39 HGNC ENSG00000242371 19 0 0.00 16 5 23.81 - - - MEPE 0 genome.wustl.edu 37 4 88767390 88767390 + Missense_Mutation SNP C C T TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 4 88767390 88767390 C T SNP MEPE ENST00000361056 human ensembl 69_37n +1 known missense c.1370 p.P457L 0.000 NULL pfam_Osteoregulin - no_errors MEPE HGNC ENSG00000152595 51 0 0.00 16 8 33.33 - - - MSL1 0 genome.wustl.edu 37 17 38282588 38282588 + Silent SNP G G A TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 17 38282588 38282588 G A SNP MSL1 ENST00000398532 human ensembl 69_37n +1 known silent c.921 p.E307 1.000 NULL NULL - no_errors MSL1 HGNC ENSG00000188895 57 0 0.00 23 19 45.24 - - - NOTCH2 0 genome.wustl.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 1 120612003 120612004 GG - DEL NOTCH2 ENST00000256646 human ensembl 69_37n -1 known frame_shift_del c.18_17 p.P6fs 0.101:0.700 pirsf_Notch pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 8 0 0.00 3 3 50.00 - - - PCDHB11 0 genome.wustl.edu 37 5 140580709 140580709 + Silent SNP C C T TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 5 140580709 140580709 C T SNP PCDHB11 ENST00000354757 human ensembl 69_37n +1 known silent c.1362 p.T454 0.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 63 0 0.00 20 20 50.00 - - - PIK3CA 0 genome.wustl.edu 37 3 178948044 178948044 + Missense_Mutation SNP A A G TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 3 178948044 178948044 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.2816 p.D939G 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_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 43 0 0.00 9 10 52.63 - - - PKHD1L1 0 genome.wustl.edu 37 8 110412471 110412471 + Missense_Mutation SNP T T A TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 8 110412471 110412471 T A SNP PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known missense c.1179 p.S393R 1.000 pfam_PA14,smart_PA14 pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 207 0 0.00 36 108 75.00 - - - PLCZ1 0 genome.wustl.edu 37 12 18837138 18837138 + Missense_Mutation SNP A A G TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 12 18837138 18837138 A G SNP PLCZ1 ENST00000266505 human ensembl 69_37n -1 known missense c.1667 p.V556A 0.998 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC ENSG00000139151 107 0 0.00 28 24 46.15 - - - PPFIBP1 0 genome.wustl.edu 37 12 27832871 27832871 + Missense_Mutation SNP G G C TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 12 27832871 27832871 G C SNP PPFIBP1 ENST00000318304 human ensembl 69_37n +1 known missense c.1790 p.R597T 0.997 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP1 HGNC ENSG00000110841 52 0 0.00 12 13 52.00 - - - RAP2C 0 genome.wustl.edu 37 X 131348321 131348321 + Missense_Mutation SNP T T C TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 X 131348321 131348321 T C SNP RAP2C ENST00000342983 human ensembl 69_37n -1 known missense c.427 p.M143V 1.000 pfam_Small_GTPase,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2C HGNC ENSG00000123728 85 0 0.00 11 16 59.26 - - - TNFRSF19 0 genome.wustl.edu 37 13 24242970 24242970 + Missense_Mutation SNP C C A TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 13 24242970 24242970 C A SNP TNFRSF19 ENST00000382258 human ensembl 69_37n +1 known missense c.979 p.P327T 0.057 NULL smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19 - no_errors TNFRSF19 HGNC ENSG00000127863 61 0 0.00 27 7 20.59 - - - TTN 0 genome.wustl.edu 37 2 179550299 179550299 + Missense_Mutation SNP C C A TCGA-EW-A1P0-01A-11D-A142-09 TCGA-EW-A1P0-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6475f4dd-782c-411a-b7ce-9c9ebd0753b8 b71deea6-58d2-42b0-89f6-8a195ffe6213 2 179550299 179550299 C A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.28606 p.V9536L 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom 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 124 0 0.00 34 24 41.38 - - -