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 ABCG4 0 genome.wustl.edu 37 11 119028976 119028976 + Silent SNP C C T TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 11 119028976 119028976 C T SNP ABCG4 ENST00000307417 human ensembl 69_37n +1 known silent c.1101 p.A367 1.000 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG4 HGNC ENSG00000172350 57 0 0.00 78 81 50.94 - - - ALDH18A1 0 genome.wustl.edu 37 10 97371060 97371060 + Missense_Mutation SNP A A G TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 10 97371060 97371060 A G SNP ALDH18A1 ENST00000371224 human ensembl 69_37n -1 known missense c.2063 p.I688T 1.000 superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase - no_errors ALDH18A1 HGNC ENSG00000059573 113 0 0.00 174 135 43.69 - - - ALG13 0 genome.wustl.edu 37 X 110970225 110970225 + Missense_Mutation SNP G G A TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d X 110970225 110970225 G A SNP ALG13 ENST00000251943 human ensembl 69_37n +1 known missense c.1606 p.E536K 0.999 NULL pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 97 0 0.00 127 55 30.22 - - - ARID1A 0 genome.wustl.edu 37 1 27106816 27106816 + Missense_Mutation SNP C C T TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 1 27106816 27106816 C T SNP ARID1A ENST00000324856 human ensembl 69_37n +1 known missense c.6427 p.R2143C 1.000 pfam_DUF3518,superfamily_ARM-type_fold pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 69 0 0.00 94 12 11.32 - - - ASPM 0 genome.wustl.edu 37 1 197056085 197056085 + Frame_Shift_Del DEL G G - TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 1 197056085 197056085 G - DEL ASPM ENST00000367409 human ensembl 69_37n -1 known frame_shift_del c.10179 p.V3395fs 0.998 NULL pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 222 0 0.00 43 11 20.37 - - - ATG2A 0 genome.wustl.edu 37 11 64668490 64668490 + Missense_Mutation SNP C C T TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 11 64668490 64668490 C T SNP ATG2A ENST00000418259 human ensembl 69_37n -1 novel missense c.3604 p.A1202T 1.000 NULL pfam_Autophagy-rel_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATG2A HGNC ENSG00000110046 28 0 0.00 28 6 17.65 - - - BATF2 0 genome.wustl.edu 37 11 64756807 64756807 + Nonsense_Mutation SNP G G A TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 11 64756807 64756807 G A SNP BATF2 ENST00000301887 human ensembl 69_37n -1 known nonsense c.619 p.Q207* 0.602 NULL pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors BATF2 HGNC ENSG00000168062 52 0 0.00 90 21 18.92 - - - BSG 0 genome.wustl.edu 37 19 580426 580426 + Missense_Mutation SNP C C T TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 19 580426 580426 C T SNP BSG ENST00000333511 human ensembl 69_37n +1 known missense c.620 p.P207L 0.164 NULL pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors BSG HGNC ENSG00000172270 23 0 0.00 73 23 23.96 - - - CCDC172 0 genome.wustl.edu 37 10 118101618 118101618 + Frame_Shift_Del DEL A A - TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 10 118101618 118101618 A - DEL CCDC172 ENST00000333254 human ensembl 69_37n +1 known frame_shift_del c.353 p.D118fs 0.998 NULL NULL - no_errors CCDC172 HGNC ENSG00000182645 41 0 0.00 13 2 13.33 - - - COPS7B 0 genome.wustl.edu 37 2 232653392 232653392 + Missense_Mutation SNP C C T TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 2 232653392 232653392 C T SNP COPS7B ENST00000350033 human ensembl 69_37n +1 known missense c.112 p.P38S 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors COPS7B HGNC ENSG00000144524 131 0 0.00 85 43 33.59 - - - CROCC 0 genome.wustl.edu 37 1 17275337 17275337 + Missense_Mutation SNP C C T TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 1 17275337 17275337 C T SNP CROCC ENST00000375541 human ensembl 69_37n +1 known missense c.2752 p.R918W 1.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 28 0 0.00 45 8 15.09 - - - CYFIP1 0 genome.wustl.edu 37 15 22947066 22947066 + Missense_Mutation SNP G G A TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 15 22947066 22947066 G A SNP CYFIP1 ENST00000313077 human ensembl 69_37n +1 known missense c.1339 p.E447K 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 76 0 0.00 195 80 29.09 - - - DNAH17 0 genome.wustl.edu 37 17 76433854 76433854 + Missense_Mutation SNP C C T TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 17 76433854 76433854 C T SNP DNAH17 ENST00000389840 human ensembl 69_37n -1 known missense c.11884 p.A3962T 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 47 0 0.00 74 33 30.84 - - - DSPP 0 genome.wustl.edu 37 4 88537153 88537153 + Silent SNP T T C TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 4 88537153 88537153 T C SNP DSPP ENST00000282478 human ensembl 69_37n +1 known silent c.3339 p.D1113 0.480 NULL NULL - no_errors DSPP HGNC ENSG00000152591 41 0 0.00 182 42 18.75 - - - ENSG00000211459 0 genome.wustl.edu 37 MT 1273 1273 + RNA SNP G G A TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d MT 1273 1273 G A SNP ENSG00000211459 ENST00000389680 human ensembl 69_37n +1 known rna NULL NULL NULL - - - no_errors J01415.24 Clone_based_ensembl_gene ENSG00000211459 31 0 0.00 17 19 52.78 - - - EPPK1 0 genome.wustl.edu 37 8 144947299 144947299 + Silent SNP C C T TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 8 144947299 144947299 C T SNP EPPK1 ENST00000525985 human ensembl 69_37n -1 known silent c.123 p.R41 0.746 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 12 0 0.00 40 11 21.57 - - - FBXW7 0 genome.wustl.edu 37 4 153253808 153253808 + Frame_Shift_Del DEL G G - TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 4 153253808 153253808 G - DEL FBXW7 ENST00000281708 human ensembl 69_37n -1 known frame_shift_del c.925 p.R309fs 1.000 pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW7 HGNC ENSG00000109670 100 0 0.00 79 28 25.93 - - - GPATCH8 0 genome.wustl.edu 37 17 42477336 42477336 + Silent SNP C C T TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 17 42477336 42477336 C T SNP GPATCH8 ENST00000591680 human ensembl 69_37n -1 known silent c.2109 p.E703 0.813 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 290 0 0.00 100 98 49.49 - - - HRNR 0 genome.wustl.edu 37 1 152185800 152185801 + Frame_Shift_Del DEL AC AC - TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 1 152185800 152185801 AC - DEL HRNR ENST00000368801 human ensembl 69_37n -1 known frame_shift_del c.8305_8304 p.Q2768fs 0.000:0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 8 0 0.00 6 3 33.33 - - - KCNG4 0 genome.wustl.edu 37 16 84270972 84270972 + Silent SNP G G A TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 16 84270972 84270972 G A SNP KCNG4 ENST00000308251 human ensembl 69_37n -1 known silent c.120 p.Y40 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG4 HGNC ENSG00000168418 33 0 0.00 44 18 29.03 - - - KCNQ2 0 genome.wustl.edu 37 20 62045493 62045493 + Missense_Mutation SNP A A G TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 20 62045493 62045493 A G SNP KCNQ2 ENST00000354587 human ensembl 69_37n -1 known missense c.1495 p.F499L 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 76 0 0.00 113 46 28.93 - - - KCTD3 0 genome.wustl.edu 37 1 215753269 215753269 + Missense_Mutation SNP C C G TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 1 215753269 215753269 C G SNP KCTD3 ENST00000259154 human ensembl 69_37n +1 known missense c.553 p.R185G 0.996 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 256 0 0.00 191 112 36.96 - - - KIF20B 0 genome.wustl.edu 37 10 91483856 91483856 + Frame_Shift_Del DEL T T - TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 10 91483856 91483856 T - DEL KIF20B ENST00000416354 human ensembl 69_37n +1 known frame_shift_del c.1858 p.F620fs 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 86 0 0.00 10 2 16.67 - - - LRIT3 0 genome.wustl.edu 37 4 110789053 110789053 + Silent SNP C C A TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 4 110789053 110789053 C A SNP LRIT3 ENST00000379920 human ensembl 69_37n +1 known silent c.711 p.T237 0.971 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIT3 HGNC ENSG00000183423 91 0 0.00 98 71 42.01 - - - LRRC4B 0 genome.wustl.edu 37 19 51022151 51022151 + Missense_Mutation SNP G G T TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 19 51022151 51022151 G T SNP LRRC4B ENST00000389201 human ensembl 69_37n -1 known missense c.819 p.F273L 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4B HGNC ENSG00000131409 46 0 0.00 103 48 31.79 - - - MT-ATP6 0 genome.wustl.edu 37 MT 9189 9189 + Nonsense_Mutation SNP C C A TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d MT 9189 9189 C A SNP MT-ATP6 ENST00000361899 human ensembl 69_37n +1 known nonsense c.663 p.Y221* NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 23 0 0.00 45 14 23.73 - - - MT-CO2 0 genome.wustl.edu 37 MT 7837 7837 + Silent SNP T T C TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d MT 7837 7837 T C SNP MT-CO2 ENST00000361739 human ensembl 69_37n +1 known silent c.252 p.L84 NULL superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,prints_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,prints_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 22 0 0.00 30 17 36.17 - - - MT-ND6 0 genome.wustl.edu 37 MT 14494 14494 + Silent SNP T T C TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d MT 14494 14494 T C SNP MT-ND6 ENST00000361681 human ensembl 69_37n -1 known silent c.180 p.L60 NULL pfam_NADH_UbQ/plastoQ_OxRdtase_su6 pfam_NADH_UbQ/plastoQ_OxRdtase_su6 - no_errors MT-ND6 HGNC ENSG00000198695 210 0 0.00 17 3 15.00 - - - MUC12 0 genome.wustl.edu 37 7 100637074 100637074 + Missense_Mutation SNP G G A TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 7 100637074 100637074 G A SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.3659 p.R1220H 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 23 0 0.00 154 27 14.92 - - - MUC12 0 genome.wustl.edu 37 7 100639210 100639211 + Frame_Shift_Ins INS - - A TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 7 100639210 100639211 - A INS MUC12 ENST00000379442 human ensembl 69_37n +1 known frame_shift_ins c.5795_5796 p.A1933fs 0.000:0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 48 0 0.00 6 5 45.45 - - - MUC12 0 genome.wustl.edu 37 7 100639217 100639217 + Frame_Shift_Del DEL A A - TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 7 100639217 100639217 A - DEL MUC12 ENST00000379442 human ensembl 69_37n +1 known frame_shift_del c.5802 p.G1935fs 0.001 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 42 0 0.00 6 5 45.45 - - - NUSAP1 0 genome.wustl.edu 37 15 41669445 41669445 + Frame_Shift_Del DEL A A - TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 15 41669445 41669445 A - DEL NUSAP1 ENST00000559596 human ensembl 69_37n +1 known frame_shift_del c.1175 p.H392fs 0.004 NULL NULL - no_errors NUSAP1 HGNC ENSG00000137804 55 0 0.00 12 2 14.29 - - - PDE6C 0 genome.wustl.edu 37 10 95394645 95394645 + Missense_Mutation SNP A A C TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 10 95394645 95394645 A C SNP PDE6C ENST00000371447 human ensembl 69_37n +1 known missense c.1250 p.H417P 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 132 0 0.00 113 17 13.08 - - - POU2F2 0 genome.wustl.edu 37 19 42599447 42599447 + Missense_Mutation SNP G G T TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 19 42599447 42599447 G T SNP POU2F2 ENST00000342301 human ensembl 69_37n -1 known missense c.1122 p.S374R 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F2 HGNC ENSG00000028277 36 0 0.00 27 11 28.95 - - - SLC4A10 0 genome.wustl.edu 37 2 162757469 162757469 + Missense_Mutation SNP G G A TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 2 162757469 162757469 G A SNP SLC4A10 ENST00000446997 human ensembl 69_37n +1 known missense c.1390 p.E464K 1.000 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 150 0 0.00 85 20 19.05 - - - SVEP1 0 genome.wustl.edu 37 9 113170187 113170187 + Missense_Mutation SNP C C G TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 9 113170187 113170187 C G SNP SVEP1 ENST00000401783 human ensembl 69_37n -1 known missense c.7693 p.G2565R 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 53 0 0.00 57 25 30.49 - - - TBC1D3P5 0 genome.wustl.edu 37 17 25746626 25746626 + RNA SNP A A G TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 17 25746626 25746626 A G SNP TBC1D3P5 ENST00000581469 human ensembl 69_37n +1 known rna NULL NULL 0.091 - - - no_errors TBC1D3P5 HGNC ENSG00000266433 21 0 0.00 16 15 48.39 - - - THAP7 0 genome.wustl.edu 37 22 21354432 21354432 + Missense_Mutation SNP C C T TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 22 21354432 21354432 C T SNP THAP7 ENST00000215742 human ensembl 69_37n -1 known missense c.667 p.G223R 0.731 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP7 HGNC ENSG00000184436 12 0 0.00 17 6 26.09 - - - THBS4 0 genome.wustl.edu 37 5 79375018 79375018 + Silent SNP G G A TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 5 79375018 79375018 G A SNP THBS4 ENST00000350881 human ensembl 69_37n +1 known silent c.2448 p.T816 0.001 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 112 0 0.00 67 67 50.00 - - - TP53 0 genome.wustl.edu 37 17 7578382 7578382 + Nonsense_Mutation SNP G G C TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 17 7578382 7578382 G C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.548 p.S183* 0.011 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 54 0 0.00 36 35 49.30 - - - TXNDC16 0 genome.wustl.edu 37 14 52978095 52978095 + Nonsense_Mutation SNP C C A TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 14 52978095 52978095 C A SNP TXNDC16 ENST00000281741 human ensembl 69_37n -1 known nonsense c.619 p.E207* 0.981 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC ENSG00000087301 153 0 0.00 54 50 48.08 - - - TXNIP 0 genome.wustl.edu 37 1 145440077 145440077 + Missense_Mutation SNP A A G TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 1 145440077 145440077 A G SNP TXNIP ENST00000369317 human ensembl 69_37n +1 known missense c.511 p.M171V 1.000 superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors TXNIP HGNC ENSG00000117289 94 0 0.00 63 23 26.74 - - - YEATS4 0 genome.wustl.edu 37 12 69784092 69784093 + Frame_Shift_Ins INS - - A TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 12 69784092 69784093 - A INS YEATS4 ENST00000247843 human ensembl 69_37n +1 known frame_shift_ins c.680_681 p.*228fs 0.999:0.960 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS4 HGNC ENSG00000127337 66 0 0.00 10 5 33.33 - - - ZC3H11A 0 genome.wustl.edu 37 1 203798941 203798941 + Missense_Mutation SNP C C T TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 1 203798941 203798941 C T SNP ZC3H11A ENST00000332127 human ensembl 69_37n +1 known missense c.536 p.T179I 0.997 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 100 0 0.00 55 17 23.61 - - - ZMYM3 0 genome.wustl.edu 37 X 70462188 70462188 + Missense_Mutation SNP G G C TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d X 70462188 70462188 G C SNP ZMYM3 ENST00000373988 human ensembl 69_37n -1 known missense c.3640 p.L1214V 1.000 pfam_DUF3504 pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ENSG00000147130 72 0 0.00 90 52 36.62 - - - ZNF687 0 genome.wustl.edu 37 1 151259248 151259248 + Missense_Mutation SNP G G A TCGA-A1-A0SP-01A-11D-A099-09 TCGA-A1-A0SP-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d3ae9617-b6cd-4d98-b631-39bd4afd3c4e a409caa8-efd1-4fc8-9753-fa253e65c58d 1 151259248 151259248 G A SNP ZNF687 ENST00000324048 human ensembl 69_37n +1 known missense c.481 p.D161N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 52 0 0.00 33 26 44.07 - - -