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 48443437 48443437 + Missense_Mutation SNP C C T TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 7 48443437 48443437 C T SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.12031 p.R4011W 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 179 0 0.00 97 56 36.60 - - - ACE 0 genome.wustl.edu 37 17 61560393 61560393 + Missense_Mutation SNP G G A TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 17 61560393 61560393 G A SNP ACE ENST00000290866 human ensembl 69_37n +1 known missense c.1346 p.S449N 0.991 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 50 0 0.00 32 20 38.46 - - - ADPRH 0 genome.wustl.edu 37 3 119301234 119301234 + Missense_Mutation SNP C C A TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 3 119301234 119301234 C A SNP ADPRH ENST00000357003 human ensembl 69_37n +1 known missense c.218 p.A73D 0.000 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro - no_errors ADPRH HGNC ENSG00000144843 109 0 0.00 62 28 31.11 - - - ALDH1L2 0 genome.wustl.edu 37 12 105464512 105464512 + Missense_Mutation SNP G G C TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 12 105464512 105464512 G C SNP ALDH1L2 ENST00000258494 human ensembl 69_37n -1 known missense c.264 p.I88M 1.000 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 161 0 0.00 165 22 11.76 - - - ANXA11 0 genome.wustl.edu 37 10 81928877 81928878 + Frame_Shift_Ins INS - - G TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 10 81928877 81928878 - G INS ANXA11 ENST00000265447 human ensembl 69_37n -1 known frame_shift_ins c.409_408 p.G136fs 0.686:0.396 NULL pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXI,prints_AnnexinVII - no_errors ANXA11 HGNC ENSG00000122359 49 0 0.00 40 5 11.11 - - - BEND5 0 genome.wustl.edu 37 1 49242339 49242340 + Frame_Shift_Ins INS - - G TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 1 49242339 49242340 - G INS BEND5 ENST00000371833 human ensembl 69_37n -1 known frame_shift_ins c.165_164 p.R56fs 1.000:1.000 NULL pfam_BEN_domain - no_errors BEND5 HGNC ENSG00000162373 13 0 0.00 3 4 57.14 - - - CEP290 0 genome.wustl.edu 37 12 88533308 88533308 + Frame_Shift_Del DEL C C - TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 12 88533308 88533308 C - DEL CEP290 ENST00000309041 human ensembl 69_37n -1 known frame_shift_del c.214 p.E72fs 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 63 0 0.00 59 18 22.50 - - - CFH 0 genome.wustl.edu 37 1 196684846 196684846 + Missense_Mutation SNP C C G TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 1 196684846 196684846 C G SNP CFH ENST00000367429 human ensembl 69_37n +1 known missense c.1643 p.T548S 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 242 0 0.00 109 52 32.30 - - - DBX2 0 genome.wustl.edu 37 12 45410172 45410172 + Missense_Mutation SNP C C G TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 12 45410172 45410172 C G SNP DBX2 ENST00000332700 human ensembl 69_37n -1 known missense c.917 p.S306T 0.017 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DBX2 HGNC ENSG00000185610 191 0 0.00 108 55 33.74 - - - DCAF17 0 genome.wustl.edu 37 2 172300067 172300067 + Missense_Mutation SNP C C G TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 2 172300067 172300067 C G SNP DCAF17 ENST00000375255 human ensembl 69_37n +1 known missense c.265 p.P89A 1.000 NULL NULL - no_errors DCAF17 HGNC ENSG00000115827 197 0 0.00 123 51 29.14 - - - DGKE 0 genome.wustl.edu 37 17 54940026 54940026 + Silent SNP C C A TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 17 54940026 54940026 C A SNP DGKE ENST00000284061 human ensembl 69_37n +1 known silent c.1578 p.A526 0.994 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKE HGNC ENSG00000153933 61 0 0.00 156 31 16.58 - - - DNAJB3 0 genome.wustl.edu 37 2 234652187 234652188 + RNA INS - - C TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 2 234652187 234652188 - C INS DNAJB3 ENST00000449667 human ensembl 69_37n -1 known rna NULL NULL 0.050:0.014 - - - no_errors DNAJB3 HGNC ENSG00000227802 51 0 0.00 54 6 10.00 - - - DOCK11 0 genome.wustl.edu 37 X 117788766 117788766 + Nonsense_Mutation SNP G G T TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c X 117788766 117788766 G T SNP DOCK11 ENST00000276202 human ensembl 69_37n +1 known nonsense c.4897 p.G1633* 1.000 NULL pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 159 0 0.00 46 70 60.34 - - - EPPK1 0 genome.wustl.edu 37 8 144940540 144940540 + Silent SNP G G A TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 8 144940540 144940540 G A SNP EPPK1 ENST00000525985 human ensembl 69_37n -1 known silent c.6882 p.G2294 0.998 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 34 0 0.00 18 4 18.18 - - - FAM111A 0 genome.wustl.edu 37 11 58920329 58920329 + Silent SNP G G A TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 11 58920329 58920329 G A SNP FAM111A ENST00000361723 human ensembl 69_37n +1 known silent c.1188 p.E396 0.005 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111A HGNC ENSG00000166801 167 0 0.00 95 47 33.10 - - - GATA3 0 genome.wustl.edu 37 10 8115832 8115833 + Frame_Shift_Ins INS - - G TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 10 8115832 8115833 - G INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1181_1182 p.A395fs 0.999:0.040 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 122 0 0.00 93 30 24.39 - - - HS3ST5 0 genome.wustl.edu 37 6 114379175 114379175 + Missense_Mutation SNP A A G TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 6 114379175 114379175 A G SNP HS3ST5 ENST00000312719 human ensembl 69_37n -1 known missense c.287 p.I96T 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST5 HGNC ENSG00000249853 86 0 0.00 49 24 32.88 - - - KIF26A 0 genome.wustl.edu 37 14 104618523 104618524 + Frame_Shift_Ins INS - - C TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 14 104618523 104618524 - C INS KIF26A ENST00000423312 human ensembl 69_37n +1 known frame_shift_ins c.460_461 p.H156fs 0.009:0.002 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 13 0 0.00 8 3 27.27 - - - MAP4K1 0 genome.wustl.edu 37 19 39088180 39088180 + Nonsense_Mutation SNP T T A TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 19 39088180 39088180 T A SNP MAP4K1 ENST00000423454 human ensembl 69_37n -1 known nonsense c.649 p.R217* 0.993 NULL pfam_Citron - no_errors MAP4K1 HGNC ENSG00000104814 172 0 0.00 146 19 11.52 - - - MLL 0 genome.wustl.edu 37 11 118392845 118392845 + Silent SNP C C G TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 11 118392845 118392845 C G SNP MLL ENST00000389506 human ensembl 69_37n +1 known silent c.11868 p.P3956 1.000 smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_Post-SET_dom pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 81 0 0.00 16 62 79.49 - - - MLLT4 0 genome.wustl.edu 37 6 168352254 168352254 + Missense_Mutation SNP C C T TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 6 168352254 168352254 C T SNP MLLT4 ENST00000366806 human ensembl 69_37n +1 known missense c.4199 p.P1400L 0.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 111 0 0.00 47 27 36.49 - - - MRAP2 0 genome.wustl.edu 37 6 84799080 84799080 + Silent SNP C C A TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 6 84799080 84799080 C A SNP MRAP2 ENST00000257776 human ensembl 69_37n +1 known silent c.498 p.I166 1.000 NULL NULL - no_errors MRAP2 HGNC ENSG00000135324 232 0 0.00 115 53 31.36 - - - MRPS31P3 0 genome.wustl.edu 37 13 52853981 52853981 + RNA SNP T T C TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 13 52853981 52853981 T C SNP MRPS31P3 ENST00000422308 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors RP11-64P12.8 Clone_based_vega_gene ENSG00000217576 8 0 0.00 2 4 66.67 - - - PCDH18 0 genome.wustl.edu 37 4 138442550 138442550 + Missense_Mutation SNP C C T TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 4 138442550 138442550 C T SNP PCDH18 ENST00000344876 human ensembl 69_37n -1 known missense c.3041 p.R1014H 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 47 0 0.00 13 13 50.00 - - - POGZ 0 genome.wustl.edu 37 1 151378134 151378134 + Missense_Mutation SNP T T C TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 1 151378134 151378134 T C SNP POGZ ENST00000271715 human ensembl 69_37n -1 known missense c.3377 p.D1126G 1.000 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 202 1 0.49 134 62 31.63 - - - PTCHD3 0 genome.wustl.edu 37 10 27702950 27702951 + Frame_Shift_Ins INS - - G TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 10 27702950 27702951 - G INS PTCHD3 ENST00000438700 human ensembl 69_37n -1 known frame_shift_ins c.230_229 p.R77fs 0.000:0.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 21 0 0.00 29 5 14.71 - - - PTPN23 0 genome.wustl.edu 37 3 47450966 47450966 + Silent SNP C C T TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 3 47450966 47450966 C T SNP PTPN23 ENST00000265562 human ensembl 69_37n +1 known silent c.1857 p.N619 1.000 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 63 0 0.00 48 24 33.33 - - - RGS9 0 genome.wustl.edu 37 17 63221454 63221454 + Missense_Mutation SNP C C G TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 17 63221454 63221454 C G SNP RGS9 ENST00000262406 human ensembl 69_37n +1 known missense c.1742 p.S581C 1.000 NULL pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS9 HGNC ENSG00000108370 109 0 0.00 77 95 55.23 - - - RWDD3 0 genome.wustl.edu 37 1 95710162 95710162 + Nonsense_Mutation SNP A A T TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 1 95710162 95710162 A T SNP RWDD3 ENST00000370202 human ensembl 69_37n +1 known nonsense c.481 p.K161* 1.000 NULL pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain - no_errors RWDD3 HGNC ENSG00000122481 55 0 0.00 37 7 15.91 - - - SMARCAL1 0 genome.wustl.edu 37 2 217303196 217303196 + Missense_Mutation SNP G G T TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 2 217303196 217303196 G T SNP SMARCAL1 ENST00000357276 human ensembl 69_37n +1 known missense c.1698 p.M566I 0.999 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_HARP,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 72 0 0.00 38 23 37.70 - - - SYAP1 0 genome.wustl.edu 37 X 16737865 16737865 + Silent SNP C C T TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c X 16737865 16737865 C T SNP SYAP1 ENST00000380155 human ensembl 69_37n +1 known silent c.18 p.S6 0.835 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors SYAP1 HGNC ENSG00000169895 10 0 0.00 5 9 64.29 - - - TAS2R8 0 genome.wustl.edu 37 12 10958729 10958729 + Missense_Mutation SNP A A G TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 12 10958729 10958729 A G SNP TAS2R8 ENST00000240615 human ensembl 69_37n -1 known missense c.851 p.I284T 0.125 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors TAS2R8 HGNC ENSG00000121314 41 0 0.00 8 15 65.22 - - - TBL1X 0 genome.wustl.edu 37 X 9661417 9661417 + Missense_Mutation SNP G G T TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c X 9661417 9661417 G T SNP TBL1X ENST00000217964 human ensembl 69_37n +1 known missense c.1011 p.W337C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1X HGNC ENSG00000101849 191 0 0.00 34 49 59.04 - - - TCHH 0 genome.wustl.edu 37 1 152084677 152084677 + Missense_Mutation SNP A A T TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 1 152084677 152084677 A T SNP TCHH ENST00000368804 human ensembl 69_37n -1 known missense c.1016 p.L339Q 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 24 0 0.00 13 7 33.33 - - - TMEM214 0 genome.wustl.edu 37 2 27259373 27259373 + Missense_Mutation SNP T T G TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 2 27259373 27259373 T G SNP TMEM214 ENST00000238788 human ensembl 69_37n +1 known missense c.739 p.S247A 0.906 pfam_DUF2359_TMEM214 pfam_DUF2359_TMEM214 - no_errors TMEM214 HGNC ENSG00000119777 133 0 0.00 68 43 38.74 - - - TNRC18 0 genome.wustl.edu 37 7 5401258 5401259 + Frame_Shift_Ins INS - - G TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 7 5401258 5401259 - G INS TNRC18 ENST00000399537 human ensembl 69_37n -1 known frame_shift_ins c.4628_4627 p.R1543fs 1.000:0.999 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 37 0 0.00 34 4 10.53 - - - VDAC2 0 genome.wustl.edu 37 10 76982078 76982078 + Missense_Mutation SNP A A T TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 10 76982078 76982078 A T SNP VDAC2 ENST00000313132 human ensembl 69_37n +1 known missense c.698 p.N233I 1.000 pfam_Porin_Euk pfam_Porin_Euk,prints_Porin_Euk - no_errors VDAC2 HGNC ENSG00000165637 111 0 0.00 68 38 35.85 - - - VMP1 0 genome.wustl.edu 37 17 57842469 57842469 + Silent SNP C C T TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 17 57842469 57842469 C T SNP VMP1 ENST00000262291 human ensembl 69_37n +1 known silent c.552 p.I184 1.000 NULL NULL - no_errors VMP1 HGNC ENSG00000062716 187 0 0.00 518 73 12.35 - - - WAC 0 genome.wustl.edu 37 10 28824639 28824640 + Frame_Shift_Del DEL GT GT - TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 10 28824639 28824640 GT - DEL WAC ENST00000354911 human ensembl 69_37n +1 known frame_shift_del c.227_228 p.S76fs 1.000:1.000 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WAC HGNC ENSG00000095787 151 0 0.00 101 45 30.20 - - - WDR17 0 genome.wustl.edu 37 4 177041218 177041218 + Missense_Mutation SNP A A C TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 4 177041218 177041218 A C SNP WDR17 ENST00000280190 human ensembl 69_37n +1 known missense c.580 p.I194L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 125 0 0.00 43 34 44.16 - - - ZEB1 0 genome.wustl.edu 37 10 31815819 31815819 + Missense_Mutation SNP C C T TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 10 31815819 31815819 C T SNP ZEB1 ENST00000361642 human ensembl 69_37n +1 known missense c.3005 p.A1002V 0.844 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 208 0 0.00 110 60 35.29 - - - ZNF131 0 genome.wustl.edu 37 5 43161487 43161487 + Missense_Mutation SNP G G A TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx abae6f4c-2378-4fbd-adea-f739e6629b22 9ac897b6-9cc0-47f6-ae50-b286c8ead24c 5 43161487 43161487 G A SNP ZNF131 ENST00000399534 human ensembl 69_37n +1 known missense c.508 p.V170I 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 ZNF131 HGNC ENSG00000172262 88 0 0.00 48 27 36.00 - - -