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 ANKRD22 0 genome.wustl.edu 37 10 90591731 90591731 + Missense_Mutation SNP A A C TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 10 90591731 90591731 A C SNP ANKRD22 ENST00000371930 human ensembl 69_37n -1 known missense c.74 p.V25G 0.023 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD22 HGNC ENSG00000152766 100 0 0.00 34 28 45.16 - - - ANKRD65 0 genome.wustl.edu 37 1 1354515 1354515 + Missense_Mutation SNP C C G TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 1 1354515 1354515 C G SNP ANKRD65 ENST00000537107 human ensembl 69_37n -1 known missense c.1165 p.E389Q 0.027 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD65 HGNC ENSG00000235098 44 0 0.00 39 5 11.36 - - - APOC1P1 0 genome.wustl.edu 37 19 45430280 45430280 + RNA SNP C C G TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 19 45430280 45430280 C G SNP APOC1P1 ENST00000507983 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors APOC1P1 HGNC ENSG00000214855 83 0 0.00 49 7 12.50 - - - ATP11C 0 genome.wustl.edu 37 X 138864799 138864799 + Missense_Mutation SNP A A G TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 X 138864799 138864799 A G SNP ATP11C ENST00000327569 human ensembl 69_37n -1 known missense c.1868 p.M623T 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11C HGNC ENSG00000101974 123 0 0.00 66 33 33.33 - - - ATRX 0 genome.wustl.edu 37 X 76762869 76762869 + RNA SNP T T C TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 X 76762869 76762869 T C SNP ATRX ENST00000480283 human ensembl 69_37n -1 known rna NULL NULL 0.848 - - - no_errors ATRX HGNC ENSG00000085224 50 0 0.00 41 8 16.33 - - - BCR 0 genome.wustl.edu 37 22 23652503 23652503 + RNA SNP T T C TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 22 23652503 23652503 T C SNP BCR ENST00000419722 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors BCR HGNC ENSG00000186716 65 0 0.00 10 7 41.18 - - - C16orf88 0 genome.wustl.edu 37 16 19725476 19725476 + Nonsense_Mutation SNP C C A TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 16 19725476 19725476 C A SNP C16orf88 ENST00000567367 human ensembl 69_37n -1 novel nonsense c.424 p.E142* 0.007 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C16orf88 HGNC ENSG00000103550 92 0 0.00 58 16 21.62 - - - C16orf88 0 genome.wustl.edu 37 16 19725691 19725691 + Missense_Mutation SNP C C G TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 16 19725691 19725691 C G SNP C16orf88 ENST00000219837 human ensembl 69_37n -1 known missense c.667 p.D223H 0.949 NULL NULL - no_errors C16orf88 HGNC ENSG00000103550 95 0 0.00 76 27 26.21 - - - C19orf68 0 genome.wustl.edu 37 19 48685877 48685877 + Silent SNP G G A TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 19 48685877 48685877 G A SNP C19orf68 ENST00000328759 human ensembl 69_37n +1 known silent c.441 p.P147 0.003 NULL NULL - no_errors C19orf68 HGNC ENSG00000185453 53 0 0.00 36 4 10.00 - - - C5orf27 0 genome.wustl.edu 37 5 95194571 95194571 + Silent SNP T T C TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 5 95194571 95194571 T C SNP C5orf27 ENST00000357880 human ensembl 69_37n +1 known silent c.138 p.L46 0.000 NULL NULL - no_errors C5orf27 HGNC ENSG00000236882 45 0 0.00 30 4 11.76 - - - C6orf183 0 genome.wustl.edu 37 6 109519623 109519623 + RNA SNP C C T TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 6 109519623 109519623 C T SNP C6orf183 ENST00000417143 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors C6orf183 HGNC ENSG00000243587 64 0 0.00 44 6 12.00 - - - CELSR2 0 genome.wustl.edu 37 1 109812436 109812436 + Silent SNP G G T TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 1 109812436 109812436 G T SNP CELSR2 ENST00000271332 human ensembl 69_37n +1 known silent c.7101 p.R2367 0.997 smart_GPS_dom,pfscan_GPS_dom 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 CELSR2 HGNC ENSG00000143126 34 0 0.00 15 4 21.05 - - - CEP85L 0 genome.wustl.edu 37 6 118803030 118803030 + Nonsense_Mutation SNP C C A TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 6 118803030 118803030 C A SNP CEP85L ENST00000368488 human ensembl 69_37n -1 known nonsense c.1666 p.E556* 0.996 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 45 0 0.00 29 13 30.95 - - - CNTN2 0 genome.wustl.edu 37 1 205034993 205034993 + Missense_Mutation SNP C C T TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 1 205034993 205034993 C T SNP CNTN2 ENST00000331830 human ensembl 69_37n +1 known missense c.1772 p.T591M 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 CNTN2 HGNC ENSG00000184144 36 0 0.00 28 4 12.50 - - - CPQ 0 genome.wustl.edu 37 8 97847337 97847337 + Silent SNP G G T TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 8 97847337 97847337 G T SNP CPQ ENST00000220763 human ensembl 69_37n +1 known silent c.570 p.G190 0.095 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 59 0 0.00 109 18 14.17 - - - CROCCP2 0 genome.wustl.edu 37 1 16956889 16956892 + RNA DEL CAGA CAGA - TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 CAGA CAGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 1 16956889 16956892 CAGA - DEL CROCCP2 ENST00000362058 human ensembl 69_37n -1 known rna NULL NULL 0.064:0.065:0.068:0.074 - - - no_errors CROCCP2 HGNC ENSG00000215908 16 0 0.00 9 4 30.77 - - - DNM1P46 0 genome.wustl.edu 37 15 100332712 100332712 + RNA SNP T T G TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 15 100332712 100332712 T G SNP DNM1P46 ENST00000341853 human ensembl 69_37n -1 known rna NULL NULL 0.017 - - - no_errors DNM1P46 HGNC ENSG00000182397 148 1 0.67 49 22 30.56 - - - EEF1DP3 0 genome.wustl.edu 37 13 32527529 32527529 + RNA SNP A A G TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 13 32527529 32527529 A G SNP EEF1DP3 ENST00000428783 human ensembl 69_37n +1 known rna NULL NULL 0.009 - - - no_errors EEF1DP3 HGNC ENSG00000229715 20 0 0.00 13 4 23.53 - - - EPB41L4A 0 genome.wustl.edu 37 5 111481696 111481696 + Splice_Site SNP C C T TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 5 111481696 111481696 C T SNP EPB41L4A ENST00000507810 human ensembl 69_37n -1 known splice_site c.NULL NULL 0.000 - - - no_errors EPB41L4A HGNC ENSG00000129595 55 0 0.00 52 6 10.34 - - - FAM86B2 0 genome.wustl.edu 37 8 12286609 12286609 + Silent SNP T T C TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 8 12286609 12286609 T C SNP FAM86B2 ENST00000262365 human ensembl 69_37n -1 known silent c.357 p.S119 0.506 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors FAM86B2 HGNC ENSG00000145002 8 0 0.00 16 11 40.74 - - - FASN 0 genome.wustl.edu 37 17 80037356 80037358 + In_Frame_Del DEL GTA GTA - TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 GTA GTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 17 80037356 80037358 GTA - DEL FASN ENST00000306749 human ensembl 69_37n -1 known in_frame_del c.7275_7273 p.Y2425in_frame_del 1.000:1.000:0.992 pfam_Thioesterase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 48 0 0.00 58 8 11.94 - - - FOXA1 0 genome.wustl.edu 37 14 38061225 38061225 + Missense_Mutation SNP T T A TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 14 38061225 38061225 T A SNP FOXA1 ENST00000250448 human ensembl 69_37n -1 known missense c.764 p.E255V 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA1 HGNC ENSG00000129514 43 0 0.00 13 33 71.74 - - - FSIP2 0 genome.wustl.edu 37 2 186627943 186627943 + Missense_Mutation SNP T T C TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 2 186627943 186627943 T C SNP FSIP2 ENST00000343098 human ensembl 69_37n +1 known missense c.1541 p.I514T 0.149 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 29 0 0.00 14 3 17.65 - - - GAB2 0 genome.wustl.edu 37 11 77937657 77937657 + Missense_Mutation SNP C C G TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 11 77937657 77937657 C G SNP GAB2 ENST00000361507 human ensembl 69_37n -1 known missense c.1061 p.R354P 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 76 0 0.00 29 22 42.31 - - - GAB2 0 genome.wustl.edu 37 11 77937662 77937662 + Silent SNP T T G TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 11 77937662 77937662 T G SNP GAB2 ENST00000361507 human ensembl 69_37n -1 known silent c.1056 p.P352 0.999 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 76 0 0.00 33 22 39.29 - - - GAL3ST1 0 genome.wustl.edu 37 22 30951295 30951295 + Missense_Mutation SNP T T G TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 22 30951295 30951295 T G SNP GAL3ST1 ENST00000338911 human ensembl 69_37n -1 known missense c.917 p.H306P 0.539 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase - no_errors GAL3ST1 HGNC ENSG00000128242 78 0 0.00 20 11 35.48 - - - GNAS 0 genome.wustl.edu 37 20 57431261 57431262 + RNA DEL AC AC - TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 20 57431261 57431262 AC - DEL GNAS ENST00000481768 human ensembl 69_37n +1 known rna NULL NULL 0.999:0.995 - - - no_errors GNAS HGNC ENSG00000087460 60 0 0.00 41 8 16.33 - - - HHATL 0 genome.wustl.edu 37 3 42739737 42739737 + Missense_Mutation SNP T T G TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 3 42739737 42739737 T G SNP HHATL ENST00000310417 human ensembl 69_37n -1 known missense c.590 p.H197P 0.214 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors HHATL HGNC ENSG00000010282 42 0 0.00 17 13 43.33 - - - HOOK1 0 genome.wustl.edu 37 1 60334000 60334000 + Nonsense_Mutation SNP G G T TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 1 60334000 60334000 G T SNP HOOK1 ENST00000371208 human ensembl 69_37n +1 known nonsense c.1924 p.E642* 1.000 pfam_HOOK pfam_HOOK,superfamily_Prefoldin - no_errors HOOK1 HGNC ENSG00000134709 56 0 0.00 27 3 10.00 - - - IL32 0 genome.wustl.edu 37 16 3131810 3131810 + Silent SNP T T C TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 16 3131810 3131810 T C SNP IL32 ENST00000525377 human ensembl 69_37n +1 putative silent c.516 p.V172 0.000 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region IL32 HGNC ENSG00000008517 29 0 0.00 29 7 19.44 - - - IMPG1 0 genome.wustl.edu 37 6 76731925 76731925 + Missense_Mutation SNP C C T TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 6 76731925 76731925 C T SNP IMPG1 ENST00000369950 human ensembl 69_37n -1 known missense c.574 p.V192I 0.007 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG1 HGNC ENSG00000112706 56 0 0.00 45 12 21.05 - - - KDM1B 0 genome.wustl.edu 37 6 18188091 18188091 + Missense_Mutation SNP T T C TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 6 18188091 18188091 T C SNP KDM1B ENST00000449850 human ensembl 69_37n +1 known missense c.92 p.V31A 0.978 NULL pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KDM1B HGNC ENSG00000165097 46 0 0.00 31 4 11.43 - - - KIR2DL4 0 genome.wustl.edu 37 19 55324635 55324635 + Silent SNP T T C TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 19 55324635 55324635 T C SNP KIR2DL4 ENST00000396284 human ensembl 69_37n +1 known silent c.756 p.F252 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL4 HGNC ENSG00000189013 103 1 0.96 13 5 27.78 - - - LILRB1 0 genome.wustl.edu 37 19 55147987 55147987 + Missense_Mutation SNP G G C TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 19 55147987 55147987 G C SNP LILRB1 ENST00000324602 human ensembl 69_37n +1 known missense c.1696 p.E566Q 0.004 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB1 HGNC ENSG00000104972 71 0 0.00 151 31 17.03 - - - LILRB1 0 genome.wustl.edu 37 19 55147988 55147988 + Missense_Mutation SNP A A C TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 19 55147988 55147988 A C SNP LILRB1 ENST00000324602 human ensembl 69_37n +1 known missense c.1697 p.E566A 0.001 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB1 HGNC ENSG00000104972 74 0 0.00 153 31 16.85 - - - LRBA 0 genome.wustl.edu 37 4 151186181 151186181 + RNA SNP C C T TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 4 151186181 151186181 C T SNP LRBA ENST00000503716 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors LRBA HGNC ENSG00000198589 29 0 0.00 20 9 31.03 - - - LRRC73 0 genome.wustl.edu 37 6 43474845 43474845 + RNA SNP G G A TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 6 43474845 43474845 G A SNP LRRC73 ENST00000468319 human ensembl 69_37n -1 known rna NULL NULL 0.958 - - - no_errors LRRC73 HGNC ENSG00000204052 23 0 0.00 18 4 18.18 - - - LRRD1 0 genome.wustl.edu 37 7 91779971 91779971 + Missense_Mutation SNP T T G TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 7 91779971 91779971 T G SNP LRRD1 ENST00000430130 human ensembl 69_37n -1 known missense c.2155 p.I719L 0.683 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death - no_errors LRRD1 HGNC ENSG00000240720 43 0 0.00 28 4 12.50 - - - LYN 0 genome.wustl.edu 37 8 56910950 56910950 + Missense_Mutation SNP C C T TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 8 56910950 56910950 C T SNP LYN ENST00000519728 human ensembl 69_37n +1 known missense c.1096 p.R366W 0.998 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LYN HGNC ENSG00000254087 26 0 0.00 45 17 27.42 - - - MIIP 0 genome.wustl.edu 37 1 12081870 12081870 + Silent SNP G G T TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 1 12081870 12081870 G T SNP MIIP ENST00000235332 human ensembl 69_37n +1 known silent c.87 p.R29 0.428 NULL NULL - no_errors MIIP HGNC ENSG00000116691 32 0 0.00 20 4 16.67 - - - MON1B 0 genome.wustl.edu 37 16 77228812 77228812 + Silent SNP G G T TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 16 77228812 77228812 G T SNP MON1B ENST00000248248 human ensembl 69_37n +1 known silent c.1056 p.L352 1.000 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1B HGNC ENSG00000103111 188 0 0.00 55 27 32.93 - - - MUC2 0 genome.wustl.edu 37 11 1083135 1083135 + Missense_Mutation SNP C C T TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 11 1083135 1083135 C T SNP MUC2 ENST00000441003 human ensembl 69_37n +1 known missense c.2035 p.R679C 1.000 superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 65 0 0.00 59 10 14.49 - - - MUC4 0 genome.wustl.edu 37 3 195506189 195506189 + Missense_Mutation SNP A A G TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 3 195506189 195506189 A G SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.12262 p.S4088P 0.060 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 11 0 0.00 10 5 33.33 - - - NLRP7 0 genome.wustl.edu 37 19 55452900 55452900 + Missense_Mutation SNP G G C TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 19 55452900 55452900 G C SNP NLRP7 ENST00000446217 human ensembl 69_37n -1 known missense c.264 p.N88K 0.001 pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 76 0 0.00 44 16 26.67 - - - OLFM4 0 genome.wustl.edu 37 13 53624487 53624487 + Missense_Mutation SNP C C A TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 13 53624487 53624487 C A SNP OLFM4 ENST00000219022 human ensembl 69_37n +1 known missense c.1114 p.R372S 1.000 pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC ENSG00000102837 59 0 0.00 39 26 40.00 - - - PSMD5 0 genome.wustl.edu 37 9 123580275 123580275 + Missense_Mutation SNP T T C TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 9 123580275 123580275 T C SNP PSMD5 ENST00000210313 human ensembl 69_37n -1 known missense c.1424 p.N475S 1.000 pfam_26S_Psome_nonATP_su5 pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold - no_errors PSMD5 HGNC ENSG00000095261 28 0 0.00 23 7 23.33 - - - PTPRB 0 genome.wustl.edu 37 12 70949883 70949883 + Missense_Mutation SNP G G A TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 12 70949883 70949883 G A SNP PTPRB ENST00000334414 human ensembl 69_37n -1 known missense c.4760 p.T1587M 0.978 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 42 0 0.00 55 7 11.29 - - - PTPRC 0 genome.wustl.edu 37 1 198671524 198671524 + Missense_Mutation SNP G G A TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 1 198671524 198671524 G A SNP PTPRC ENST00000367376 human ensembl 69_37n +1 known missense c.448 p.G150R 0.000 pirsf_Leukocyte_common_ag pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 37 0 0.00 31 20 39.22 - - - PXDNL 0 genome.wustl.edu 37 8 52384839 52384839 + Silent SNP C C T TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 8 52384839 52384839 C T SNP PXDNL ENST00000356297 human ensembl 69_37n -1 known silent c.720 p.P240 0.130 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDNL HGNC ENSG00000147485 35 0 0.00 36 16 30.77 - - - RAET1K 0 genome.wustl.edu 37 6 150322381 150322381 + RNA SNP T T A TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 6 150322381 150322381 T A SNP RAET1K ENST00000533735 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RAET1K HGNC ENSG00000218358 25 0 0.00 29 5 14.71 - - - RNY5 0 genome.wustl.edu 37 7 148638600 148638600 + RNA SNP G G T TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 7 148638600 148638600 G T SNP RNY5 ENST00000516501 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNY5 HGNC ENSG00000252310 52 0 0.00 30 18 37.50 - - - RSL1D1 0 genome.wustl.edu 37 16 11935601 11935601 + Missense_Mutation SNP C C G TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 16 11935601 11935601 C G SNP RSL1D1 ENST00000571133 human ensembl 69_37n -1 known missense c.806 p.S269T 0.022 NULL pfam_Ribosomal_L1,superfamily_Ribosomal_L1_SF - no_errors RSL1D1 HGNC ENSG00000171490 51 0 0.00 14 21 60.00 - - - SATL1 0 genome.wustl.edu 37 X 84362457 84362457 + Silent SNP C C A TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 X 84362457 84362457 C A SNP SATL1 ENST00000509231 human ensembl 69_37n -1 known silent c.1518 p.L506 0.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors SATL1 HGNC ENSG00000184788 126 0 0.00 99 11 10.00 - - - SLC22A15 0 genome.wustl.edu 37 1 116609287 116609287 + Silent SNP G G T TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 1 116609287 116609287 G T SNP SLC22A15 ENST00000369503 human ensembl 69_37n +1 known silent c.1512 p.L504 1.000 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A15 HGNC ENSG00000163393 73 0 0.00 8 27 77.14 - - - SLC9A6 0 genome.wustl.edu 37 X 135126844 135126844 + Silent SNP G G A TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 X 135126844 135126844 G A SNP SLC9A6 ENST00000370695 human ensembl 69_37n +1 known silent c.2067 p.P689 0.000 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC ENSG00000198689 74 0 0.00 53 28 34.57 - - - SLCO1B7 0 genome.wustl.edu 37 12 21201768 21201768 + Frame_Shift_Del DEL T T - TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 12 21201768 21201768 T - DEL SLCO1B7 ENST00000554957 human ensembl 69_37n +1 known frame_shift_del c.1258 p.L420fs 0.000 pfam_OA_transporter,pfam_MFS,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 SLCO1B7 HGNC ENSG00000205754 63 0 0.00 14 2 12.50 - - - SPTLC1 0 genome.wustl.edu 37 9 94812324 94812324 + Missense_Mutation SNP G G T TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 9 94812324 94812324 G T SNP SPTLC1 ENST00000262554 human ensembl 69_37n -1 known missense c.806 p.A269E 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC1 HGNC ENSG00000090054 33 0 0.00 21 3 12.50 - - - TMX3 0 genome.wustl.edu 37 18 66354964 66354964 + Frame_Shift_Del DEL C C - TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 18 66354964 66354964 C - DEL TMX3 ENST00000299608 human ensembl 69_37n -1 known frame_shift_del c.676 p.E226fs 1.000 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors TMX3 HGNC ENSG00000166479 40 0 0.00 9 2 18.18 - - - TNFAIP1 0 genome.wustl.edu 37 17 26671409 26671409 + Missense_Mutation SNP G G A TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 17 26671409 26671409 G A SNP TNFAIP1 ENST00000226225 human ensembl 69_37n +1 known missense c.734 p.R245Q 1.000 NULL pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors TNFAIP1 HGNC ENSG00000109079 64 0 0.00 50 26 34.21 - - - TPRX1 0 genome.wustl.edu 37 19 48305694 48305694 + Missense_Mutation SNP A A G TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 19 48305694 48305694 A G SNP TPRX1 ENST00000535759 human ensembl 69_37n -1 known missense c.865 p.S289P 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TPRX1 HGNC ENSG00000178928 147 0 0.00 70 23 24.73 - - - TTYH1 0 genome.wustl.edu 37 19 54930683 54930683 + RNA SNP T T C TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 19 54930683 54930683 T C SNP TTYH1 ENST00000462769 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors TTYH1 HGNC ENSG00000167614 37 0 0.00 15 32 68.09 - - - USP9X 0 genome.wustl.edu 37 X 41073963 41073963 + Splice_Site SNP G G A TCGA-AC-A2FM-01A-11D-A19Y-09 TCGA-AC-A2FM-11B-32D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c5da0b13-36d4-450f-91ad-28aec80cd486 15e2debd-3063-47bd-89ba-db738a9c0b45 X 41073963 41073963 G A SNP USP9X ENST00000324545 human ensembl 69_37n +1 known splice_site c.5331+1 e33+1 1.000 - - - no_errors USP9X HGNC ENSG00000124486 73 0 0.00 47 25 34.72 - - -