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 AHNAK 0 genome.wustl.edu 37 11 62294600 62294600 + Missense_Mutation SNP T T G TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 11 62294600 62294600 T G SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.7289 p.E2430A 0.998 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 106 0 0.00 89 31 25.83 - - - AIM1 0 genome.wustl.edu 37 6 106967352 106967352 + Missense_Mutation SNP G G A TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 6 106967352 106967352 G A SNP AIM1 ENST00000369066 human ensembl 69_37n +1 known missense c.1045 p.E349K 0.003 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 31 0 0.00 15 3 16.67 - - - ANKRD28 0 genome.wustl.edu 37 3 15736712 15736712 + Missense_Mutation SNP C C T TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 3 15736712 15736712 C T SNP ANKRD28 ENST00000383777 human ensembl 69_37n -1 known missense c.1678 p.E560K 1.000 smart_Ankyrin_rpt,pfscan_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 ANKRD28 HGNC ENSG00000206560 37 0 0.00 36 5 12.20 - - - BCL9L 0 genome.wustl.edu 37 11 118779095 118779095 + Missense_Mutation SNP G G A TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 11 118779095 118779095 G A SNP BCL9L ENST00000334801 human ensembl 69_37n -1 known missense c.296 p.A99V 0.985 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 63 0 0.00 37 8 17.78 - - - C2orf82 0 genome.wustl.edu 37 2 233740258 233740258 + Missense_Mutation SNP G G A TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 2 233740258 233740258 G A SNP C2orf82 ENST00000449331 human ensembl 69_37n +1 putative missense c.121 p.A41T 0.001 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C2orf82 HGNC ENSG00000182600 35 0 0.00 25 12 32.43 - - - CD163L1 0 genome.wustl.edu 37 12 7559399 7559399 + Missense_Mutation SNP C C T TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 12 7559399 7559399 C T SNP CD163L1 ENST00000313599 human ensembl 69_37n -1 known missense c.816 p.M272I 0.014 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163L1 HGNC ENSG00000177675 29 0 0.00 25 6 19.35 - - - CDH1 0 genome.wustl.edu 37 16 68867258 68867258 + Nonsense_Mutation SNP T T A TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 16 68867258 68867258 T A SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known nonsense c.2505 p.Y835* 0.988 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 83 0 0.00 28 27 49.09 - - - CHD4 0 genome.wustl.edu 37 12 6710219 6710219 + Missense_Mutation SNP C C A TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 12 6710219 6710219 C A SNP CHD4 ENST00000309577 human ensembl 69_37n -1 known missense c.800 p.G267V 1.000 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 61 0 0.00 39 21 35.00 - - - CLK2 0 genome.wustl.edu 37 1 155233769 155233769 + Missense_Mutation SNP T T C TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 1 155233769 155233769 T C SNP CLK2 ENST00000368361 human ensembl 69_37n -1 known missense c.1289 p.Y430C 1.000 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 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK2 HGNC ENSG00000176444 54 0 0.00 31 35 53.03 - - - CPAMD8 0 genome.wustl.edu 37 19 17062885 17062885 + Missense_Mutation SNP G G T TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 19 17062885 17062885 G T SNP CPAMD8 ENST00000291440 human ensembl 69_37n -1 known missense c.2543 p.T848N 1.000 pfam_Macroglobln_a2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_errors CPAMD8 HGNC ENSG00000160111 54 0 0.00 37 13 25.49 - - - DDX11L9 0 genome.wustl.edu 37 15 102516922 102516922 + RNA SNP A A C TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 15 102516922 102516922 A C SNP DDX11L9 ENST00000559159 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors DDX11L9 HGNC ENSG00000248472 10 0 0.00 8 4 33.33 - - - DOCK7 0 genome.wustl.edu 37 1 63090858 63090858 + RNA SNP C C T TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 1 63090858 63090858 C T SNP DOCK7 ENST00000464312 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors DOCK7 HGNC ENSG00000116641 43 0 0.00 27 4 12.90 - - - EFR3B 0 genome.wustl.edu 37 2 25366673 25366673 + Silent SNP G G A TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 2 25366673 25366673 G A SNP EFR3B ENST00000403714 human ensembl 69_37n +1 known silent c.1992 p.L664 0.999 NULL superfamily_ARM-type_fold - no_errors EFR3B HGNC ENSG00000084710 103 0 0.00 45 15 25.00 - - - ENPP4 0 genome.wustl.edu 37 6 46108830 46108830 + Missense_Mutation SNP C C T TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 6 46108830 46108830 C T SNP ENPP4 ENST00000321037 human ensembl 69_37n +1 known missense c.868 p.H290Y 0.996 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ENPP4 HGNC ENSG00000001561 33 0 0.00 35 13 27.08 - - - FAM47A 0 genome.wustl.edu 37 X 34149179 34149179 + Missense_Mutation SNP G G T TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f X 34149179 34149179 G T SNP FAM47A ENST00000346193 human ensembl 69_37n -1 known missense c.1217 p.T406N 0.048 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 107 0 0.00 117 46 28.22 - - - FLAD1 0 genome.wustl.edu 37 1 154956253 154956253 + Missense_Mutation SNP G G C TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 1 154956253 154956253 G C SNP FLAD1 ENST00000292180 human ensembl 69_37n +1 known missense c.83 p.R28T 0.001 pirsf_FAD_synth_Mopterin-bd pfam_Mopterin-bd,pfam_PAPS_reduct,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd - no_errors FLAD1 HGNC ENSG00000160688 46 0 0.00 42 10 19.23 - - - FLG 0 genome.wustl.edu 37 1 152283148 152283148 + Nonsense_Mutation SNP G G T TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 1 152283148 152283148 G T SNP FLG ENST00000368799 human ensembl 69_37n -1 known nonsense c.4214 p.S1405* 0.029 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 254 0 0.00 316 53 14.36 - - - FOXA1 0 genome.wustl.edu 37 14 38061222 38061223 + Frame_Shift_Del DEL TT TT - TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 14 38061222 38061223 TT - DEL FOXA1 ENST00000250448 human ensembl 69_37n -1 known frame_shift_del c.767_766 p.N256fs 1.000:1.000 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 67 0 0.00 61 11 15.07 - - - FOXA1 0 genome.wustl.edu 37 14 38061225 38061228 + Frame_Shift_Del DEL TCGA TCGA - TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 TCGA TCGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 14 38061225 38061228 TCGA - DEL FOXA1 ENST00000250448 human ensembl 69_37n -1 known frame_shift_del c.764_761 p.F254fs 1.000:1.000:1.000:1.000 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 72 0 0.00 65 11 14.10 - - - GLUL 0 genome.wustl.edu 37 1 182353775 182353775 + Missense_Mutation SNP T T C TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 1 182353775 182353775 T C SNP GLUL ENST00000311223 human ensembl 69_37n -1 known missense c.887 p.N296S 1.000 pfam_Gln_synth_cat_dom pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors GLUL HGNC ENSG00000135821 74 0 0.00 69 10 12.66 - - - GSDMB 0 genome.wustl.edu 37 17 38063216 38063216 + Missense_Mutation SNP A A G TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 17 38063216 38063216 A G SNP GSDMB ENST00000360317 human ensembl 69_37n -1 known missense c.725 p.L242S 0.094 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMB HGNC ENSG00000073605 23 0 0.00 24 7 22.58 - - - KRTAP21-3 0 genome.wustl.edu 37 21 32090972 32090972 + Missense_Mutation SNP A A G TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 21 32090972 32090972 A G SNP KRTAP21-3 ENST00000444335 human ensembl 69_37n -1 known missense c.106 p.Y36H 0.000 NULL NULL - no_errors KRTAP21-3 HGNC ENSG00000231068 53 0 0.00 31 15 32.61 - - - LINC00661 0 genome.wustl.edu 37 19 16136382 16136382 + RNA SNP C C A TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 19 16136382 16136382 C A SNP LINC00661 ENST00000379899 human ensembl 69_37n +1 known rna NULL NULL 0.026 - - - no_errors LINC00661 HGNC ENSG00000205396 70 0 0.00 61 14 18.67 - - - LRRC17 0 genome.wustl.edu 37 7 102574414 102574414 + Silent SNP G G A TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 7 102574414 102574414 G A SNP LRRC17 ENST00000339431 human ensembl 69_37n +1 known silent c.54 p.L18 0.969 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 72 0 0.00 58 16 21.62 - - - MARCO 0 genome.wustl.edu 37 2 119735465 119735465 + Silent SNP A A G TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 2 119735465 119735465 A G SNP MARCO ENST00000327097 human ensembl 69_37n +1 known silent c.720 p.K240 0.990 NULL pfam_Collagen,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors MARCO HGNC ENSG00000019169 39 0 0.00 18 8 30.77 - - - NINJ1 0 genome.wustl.edu 37 9 95887400 95887400 + RNA SNP G G A TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 9 95887400 95887400 G A SNP NINJ1 ENST00000489274 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors NINJ1 HGNC ENSG00000131669 65 0 0.00 53 23 30.26 - - - NT5C2 0 genome.wustl.edu 37 10 104850710 104850710 + Missense_Mutation SNP T T C TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 10 104850710 104850710 T C SNP NT5C2 ENST00000343289 human ensembl 69_37n -1 known missense c.1255 p.I419V 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5C2 HGNC ENSG00000076685 29 0 0.00 23 4 14.81 - - - NYNRIN 0 genome.wustl.edu 37 14 24884073 24884073 + Missense_Mutation SNP C C T TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 14 24884073 24884073 C T SNP NYNRIN ENST00000382554 human ensembl 69_37n +1 known missense c.3118 p.R1040W 1.000 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 57 0 0.00 39 18 31.58 - - - PALB2 0 genome.wustl.edu 37 16 23647523 23647523 + Missense_Mutation SNP C C T TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 16 23647523 23647523 C T SNP PALB2 ENST00000261584 human ensembl 69_37n -1 known missense c.344 p.G115E 0.000 NULL superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 103 0 0.00 91 19 17.27 - - - PCDHB2 0 genome.wustl.edu 37 5 140474744 140474744 + Missense_Mutation SNP C C T TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 5 140474744 140474744 C T SNP PCDHB2 ENST00000194155 human ensembl 69_37n +1 known missense c.370 p.R124W 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 37 0 0.00 35 5 12.50 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 67 0 0.00 47 14 22.95 - - - PRKX 0 genome.wustl.edu 37 X 3592644 3592644 + Silent SNP G G A TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f X 3592644 3592644 G A SNP PRKX ENST00000262848 human ensembl 69_37n -1 known silent c.330 p.I110 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKX HGNC ENSG00000183943 99 0 0.00 84 31 26.96 - - - QSER1 0 genome.wustl.edu 37 11 32979425 32979425 + Missense_Mutation SNP G G T TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 11 32979425 32979425 G T SNP QSER1 ENST00000399302 human ensembl 69_37n +1 known missense c.4375 p.A1459S 0.136 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 33 0 0.00 33 4 10.81 - - - RPL36A 0 genome.wustl.edu 37 X 100646803 100646803 + Missense_Mutation SNP G G A TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f X 100646803 100646803 G A SNP RPL36A ENST00000427805 human ensembl 69_37n +1 known missense c.278 p.R93Q 1.000 pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd_dom pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd_dom - no_errors RPL36A HGNC ENSG00000241343 72 0 0.00 52 10 16.13 - - - SLC25A41 0 genome.wustl.edu 37 19 6430137 6430137 + Missense_Mutation SNP C C A TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 19 6430137 6430137 C A SNP SLC25A41 ENST00000458275 human ensembl 69_37n -1 known missense c.497 p.W166L 0.984 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier - no_errors SLC25A41 HGNC ENSG00000181240 83 0 0.00 67 17 20.24 - - - SPTBN2 0 genome.wustl.edu 37 11 66466533 66466533 + Missense_Mutation SNP G G T TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 11 66466533 66466533 G T SNP SPTBN2 ENST00000309996 human ensembl 69_37n -1 known missense c.3797 p.A1266E 0.975 pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type - no_errors SPTBN2 HGNC ENSG00000173898 45 0 0.00 28 17 37.78 - - - SYMPK 0 genome.wustl.edu 37 19 46333417 46333417 + Silent SNP G G A TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 19 46333417 46333417 G A SNP SYMPK ENST00000245934 human ensembl 69_37n -1 known silent c.1644 p.D548 0.086 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 183 0 0.00 149 40 21.16 - - - SYNC 0 genome.wustl.edu 37 1 33160553 33160553 + Silent SNP G G A TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 1 33160553 33160553 G A SNP SYNC ENST00000409190 human ensembl 69_37n -1 known silent c.1146 p.A382 0.467 pfam_F pfam_F - no_errors SYNC HGNC ENSG00000162520 58 0 0.00 44 10 18.52 - - - TAF1B 0 genome.wustl.edu 37 2 10008444 10008444 + Missense_Mutation SNP G G A TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 2 10008444 10008444 G A SNP TAF1B ENST00000263663 human ensembl 69_37n +1 known missense c.439 p.E147K 0.933 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 31 0 0.00 22 3 12.00 - - - TBC1D22B 0 genome.wustl.edu 37 6 37252159 37252159 + Silent SNP G G T TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 6 37252159 37252159 G T SNP TBC1D22B ENST00000373491 human ensembl 69_37n +1 known silent c.720 p.R240 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC ENSG00000065491 59 0 0.00 33 5 13.16 - - - TBX3 0 genome.wustl.edu 37 12 115118792 115118793 + Frame_Shift_Ins INS - - CT TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 12 115118792 115118793 - CT INS TBX3 ENST00000257566 human ensembl 69_37n -1 known frame_shift_ins c.549_548 p.M184fs 1.000:1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 52 0 0.00 39 11 22.00 - - - TNKS 0 genome.wustl.edu 37 8 9627729 9627729 + Missense_Mutation SNP A A G TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 8 9627729 9627729 A G SNP TNKS ENST00000310430 human ensembl 69_37n +1 known missense c.3854 p.N1285S 1.000 pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors TNKS HGNC ENSG00000173273 41 0 0.00 24 16 40.00 - - - TRAPPC6B 0 genome.wustl.edu 37 14 39623467 39623467 + Missense_Mutation SNP C C T TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 14 39623467 39623467 C T SNP TRAPPC6B ENST00000330149 human ensembl 69_37n -1 novel missense c.299 p.R100H 0.936 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd - no_errors TRAPPC6B HGNC ENSG00000182400 22 0 0.00 17 4 19.05 - - - USP29 0 genome.wustl.edu 37 19 57640903 57640903 + Missense_Mutation SNP T T C TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 19 57640903 57640903 T C SNP USP29 ENST00000254181 human ensembl 69_37n +1 known missense c.860 p.F287S 0.978 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP29 HGNC ENSG00000131864 57 0 0.00 36 16 30.77 - - - WISP2 0 genome.wustl.edu 37 20 43353470 43353470 + Silent SNP C C T TCGA-A2-A4S2-01A-12D-A25Q-09 TCGA-A2-A4S2-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1452df07-b990-46ec-8b2c-b6a17bd464c3 1196567b-472e-44b1-adfa-ca04fce2438f 20 43353470 43353470 C T SNP WISP2 ENST00000190983 human ensembl 69_37n +1 known silent c.369 p.C123 0.002 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP2 HGNC ENSG00000064205 177 0 0.00 137 49 26.34 - - -