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 ABCB10 0 genome.wustl.edu 37 1 229676385 229676385 + Missense_Mutation SNP C C G TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 1 229676385 229676385 C G SNP ABCB10 ENST00000344517 human ensembl 69_37n -1 known missense c.1171 p.E391Q 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB10 HGNC ENSG00000135776 209 1 0.47 109 27 19.85 - - - ABCB10 0 genome.wustl.edu 37 1 229678083 229678083 + Missense_Mutation SNP C C G TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 1 229678083 229678083 C G SNP ABCB10 ENST00000344517 human ensembl 69_37n -1 known missense c.957 p.L319F 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB10 HGNC ENSG00000135776 129 0 0.00 46 14 22.95 - - - ALOX15 0 genome.wustl.edu 37 17 4535496 4535496 + Missense_Mutation SNP C C T TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 17 4535496 4535496 C T SNP ALOX15 ENST00000545513 human ensembl 69_37n -1 known missense c.1687 p.A563T 0.999 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2 - no_errors ALOX15 HGNC ENSG00000161905 128 0 0.00 25 15 37.50 - - - APC 0 genome.wustl.edu 37 5 112154710 112154710 + Frame_Shift_Del DEL G G - TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 5 112154710 112154710 G - DEL APC ENST00000257430 human ensembl 69_37n +1 known frame_shift_del c.981 p.D328fs 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 100 1 0.98 6 23 76.67 - - - AQP11 0 genome.wustl.edu 37 11 77301600 77301600 + Missense_Mutation SNP G G A TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 11 77301600 77301600 G A SNP AQP11 ENST00000313578 human ensembl 69_37n +1 known missense c.563 p.R188Q 0.002 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_11 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_11,prints_MIP - no_errors AQP11 HGNC ENSG00000178301 123 0 0.00 45 52 53.61 - - - BRD1 0 genome.wustl.edu 37 22 50192705 50192705 + Frame_Shift_Del DEL C C - TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 22 50192705 50192705 C - DEL BRD1 ENST00000216267 human ensembl 69_37n -1 known frame_shift_del c.1587 p.H530fs 0.966 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 97 0 0.00 20 8 28.57 - - - C11orf49 0 genome.wustl.edu 37 11 47182744 47182744 + Frame_Shift_Del DEL A A - TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 11 47182744 47182744 A - DEL C11orf49 ENST00000395460 human ensembl 69_37n +1 known frame_shift_del c.824 p.*275fs 1.000 NULL NULL - no_errors C11orf49 HGNC ENSG00000149179 76 0 0.00 8 16 64.00 - - - C20orf166-AS1 0 genome.wustl.edu 37 20 61143471 61143471 + RNA SNP C C T TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 20 61143471 61143471 C T SNP C20orf166-AS1 ENST00000412495 human ensembl 69_37n -1 known rna NULL NULL 0.010 - - - no_errors C20orf166-AS1 HGNC ENSG00000174403 58 0 0.00 20 9 31.03 - - - C6orf70 0 genome.wustl.edu 37 6 170159085 170159085 + Missense_Mutation SNP G G A TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 6 170159085 170159085 G A SNP C6orf70 ENST00000366773 human ensembl 69_37n +1 known missense c.529 p.V177I 0.007 NULL NULL - no_errors C6orf70 HGNC ENSG00000130023 182 1 0.55 74 42 36.21 - - - CACNA1D 0 genome.wustl.edu 37 3 53804500 53804500 + Missense_Mutation SNP G G A TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 3 53804500 53804500 G A SNP CACNA1D ENST00000288139 human ensembl 69_37n +1 known missense c.4025 p.R1342Q 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 106 0 0.00 56 36 39.13 - - - CAPRIN2 0 genome.wustl.edu 37 12 30872133 30872133 + Silent SNP C C A TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 12 30872133 30872133 C A SNP CAPRIN2 ENST00000251071 human ensembl 69_37n -1 known silent c.2175 p.P725 0.002 pfam_Caprin-1_C pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,prints_C1q,pfscan_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 187 1 0.53 43 54 55.67 - - - CDC42EP1 0 genome.wustl.edu 37 22 37964206 37964206 + Silent SNP C C T TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 22 37964206 37964206 C T SNP CDC42EP1 ENST00000249014 human ensembl 69_37n +1 known silent c.555 p.P185 0.000 NULL pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd - no_errors CDC42EP1 HGNC ENSG00000128283 47 0 0.00 10 11 52.38 - - - CHI3L1 0 genome.wustl.edu 37 1 203154343 203154344 + Frame_Shift_Ins INS - - C TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 1 203154343 203154344 - C INS CHI3L1 ENST00000255409 human ensembl 69_37n -1 known frame_shift_ins c.226_225 p.L75fs 0.986:0.005 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC ENSG00000133048 114 0 0.00 33 46 58.23 - - - CNTNAP5 0 genome.wustl.edu 37 2 125405531 125405531 + Silent SNP G G A TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 2 125405531 125405531 G A SNP CNTNAP5 ENST00000431078 human ensembl 69_37n +1 known silent c.2070 p.T690 0.037 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 50 0 0.00 8 11 57.89 - - - CXorf38 0 genome.wustl.edu 37 X 40506283 40506283 + Silent SNP G G T TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 X 40506283 40506283 G T SNP CXorf38 ENST00000327877 human ensembl 69_37n -1 known silent c.327 p.P109 0.001 NULL NULL - no_errors CXorf38 HGNC ENSG00000185753 44 0 0.00 13 8 38.10 - - - DGAT2 0 genome.wustl.edu 37 11 75501262 75501262 + Missense_Mutation SNP A A G TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 11 75501262 75501262 A G SNP DGAT2 ENST00000228027 human ensembl 69_37n +1 known missense c.280 p.I94V 0.997 pfam_DAGAT pfam_DAGAT - no_errors DGAT2 HGNC ENSG00000062282 179 0 0.00 79 32 28.83 - - - DIP2C 0 genome.wustl.edu 37 10 395377 395377 + Silent SNP C C T TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 10 395377 395377 C T SNP DIP2C ENST00000280886 human ensembl 69_37n -1 known silent c.3003 p.S1001 0.018 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 86 0 0.00 69 13 15.85 - - - DZANK1 0 genome.wustl.edu 37 20 18414355 18414355 + Missense_Mutation SNP C C T TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 20 18414355 18414355 C T SNP DZANK1 ENST00000262547 human ensembl 69_37n -1 known missense c.802 p.V268M 1.000 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors DZANK1 HGNC ENSG00000089091 137 0 0.00 41 38 48.10 - - - EDAR 0 genome.wustl.edu 37 2 109547441 109547441 + Silent SNP C C T TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 2 109547441 109547441 C T SNP EDAR ENST00000376651 human ensembl 69_37n -1 known silent c.30 p.T10 0.019 NULL pfam_Death,superfamily_DEATH-like - no_errors EDAR HGNC ENSG00000135960 68 0 0.00 7 13 65.00 - - - EFCAB6 0 genome.wustl.edu 37 22 44004466 44004466 + Silent SNP G G A TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 22 44004466 44004466 G A SNP EFCAB6 ENST00000262726 human ensembl 69_37n -1 known silent c.2577 p.T859 0.036 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB6 HGNC ENSG00000186976 96 0 0.00 37 38 50.67 - - - EPHA5 0 genome.wustl.edu 37 4 66286192 66286192 + Silent SNP G G T TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 4 66286192 66286192 G T SNP EPHA5 ENST00000273854 human ensembl 69_37n -1 known silent c.1494 p.I498 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 270 0 0.00 146 32 17.98 - - - FAM208B 0 genome.wustl.edu 37 10 5788704 5788704 + Missense_Mutation SNP T T C TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 10 5788704 5788704 T C SNP FAM208B ENST00000328090 human ensembl 69_37n +1 known missense c.3320 p.L1107P 0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 80 0 0.00 107 22 17.05 - - - GABRA4 0 genome.wustl.edu 37 4 46967096 46967096 + Missense_Mutation SNP T T G TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 4 46967096 46967096 T G SNP GABRA4 ENST00000264318 human ensembl 69_37n -1 known missense c.1025 p.Y342S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 186 1 0.53 68 68 49.64 - - - GLUD2 0 genome.wustl.edu 37 X 120181770 120181770 + Missense_Mutation SNP G G A TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 X 120181770 120181770 G A SNP GLUD2 ENST00000328078 human ensembl 69_37n +1 known missense c.232 p.A78T 1.000 NULL pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 71 0 0.00 9 9 50.00 - - - GRK7 0 genome.wustl.edu 37 3 141499486 141499486 + Missense_Mutation SNP T T C TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 3 141499486 141499486 T C SNP GRK7 ENST00000264952 human ensembl 69_37n +1 known missense c.883 p.F295L 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,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_GPCR_kinase,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom - no_errors GRK7 HGNC ENSG00000114124 124 0 0.00 49 30 37.97 - - - GRM7 0 genome.wustl.edu 37 3 7188164 7188164 + Missense_Mutation SNP C C T TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 3 7188164 7188164 C T SNP GRM7 ENST00000402647 human ensembl 69_37n +1 known missense c.545 p.T182M 0.999 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 95 0 0.00 34 22 39.29 - - - GTF3C1 0 genome.wustl.edu 37 16 27497439 27497439 + Missense_Mutation SNP T T G TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 16 27497439 27497439 T G SNP GTF3C1 ENST00000356183 human ensembl 69_37n -1 known missense c.3737 p.Y1246S 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 134 0 0.00 71 13 15.48 - - - HDAC6 0 genome.wustl.edu 37 X 48675747 48675747 + Silent SNP T T A TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 X 48675747 48675747 T A SNP HDAC6 ENST00000444343 human ensembl 69_37n +1 known silent c.1848 p.A616 0.839 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 132 1 0.75 46 13 22.03 - - - KDM6A 0 genome.wustl.edu 37 X 44894229 44894232 + Frame_Shift_Del DEL AAGT AAGT - TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 X 44894229 44894232 AAGT - DEL KDM6A ENST00000382899 human ensembl 69_37n +1 known frame_shift_del c.618_619 p.E206fs 1.000:1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 390 1 0.26 172 84 32.56 - - - LARP4B 0 genome.wustl.edu 37 10 875659 875659 + Nonsense_Mutation SNP G G A TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 10 875659 875659 G A SNP LARP4B ENST00000316157 human ensembl 69_37n -1 known nonsense c.877 p.R293* 0.975 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 96 0 0.00 91 41 30.83 - - - LIMK2 0 genome.wustl.edu 37 22 31672776 31672777 + Frame_Shift_Ins INS - - C TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 22 31672776 31672777 - C INS LIMK2 ENST00000340552 human ensembl 69_37n +1 putative frame_shift_ins c.1711_1712 p.G574fs 0.995:0.996 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,pfam_PP1_inhibitor,pfam_PDZ,pfam_Znf_LIM,superfamily_Kinase-like_dom,superfamily_PP1_inhibitor,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 23 0 0.00 11 3 21.43 - - - LINC00200 0 genome.wustl.edu 37 10 1209430 1209430 + RNA SNP T T A TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 10 1209430 1209430 T A SNP LINC00200 ENST00000425630 human ensembl 69_37n +1 known rna NULL NULL 0.012 - - - no_errors LINC00200 HGNC ENSG00000229205 9 0 0.00 11 4 26.67 - - - MMP9 0 genome.wustl.edu 37 20 44637580 44637580 + Silent SNP G G A TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 20 44637580 44637580 G A SNP MMP9 ENST00000372330 human ensembl 69_37n +1 known silent c.15 p.Q5 0.192 NULL pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP9 HGNC ENSG00000100985 70 0 0.00 34 7 16.67 - - - MTCP1NB 0 genome.wustl.edu 37 X 154292281 154292281 + Silent SNP C C T TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 X 154292281 154292281 C T SNP MTCP1NB ENST00000369479 human ensembl 69_37n -1 known silent c.18 p.P6 0.998 pfam_MTCP1,superfamily_MTCP1 pfam_MTCP1,superfamily_MTCP1 - no_errors MTCP1NB HGNC ENSG00000182712 81 0 0.00 44 6 12.00 - - - PGA3 0 genome.wustl.edu 37 11 60975059 60975059 + Missense_Mutation SNP C C T TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 11 60975059 60975059 C T SNP PGA3 ENST00000325558 human ensembl 69_37n +1 known missense c.428 p.T143I 0.292 pfam_Peptidase_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors PGA3 HGNC ENSG00000229859 310 0 0.00 141 42 22.95 - - - PLEC 0 genome.wustl.edu 37 8 144995814 144995814 + Silent SNP C C T TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 8 144995814 144995814 C T SNP PLEC ENST00000322810 human ensembl 69_37n -1 known silent c.8586 p.T2862 0.051 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 46 0 0.00 76 9 10.59 - - - RBMX 0 genome.wustl.edu 37 X 135960146 135960147 + Frame_Shift_Ins INS - - AA TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 X 135960146 135960147 - AA INS RBMX ENST00000320676 human ensembl 69_37n -1 known frame_shift_ins c.316_315 p.P105fs 1.000:1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 138 0 0.00 62 7 10.14 - - - RPS6KB1 0 genome.wustl.edu 37 17 57987923 57987923 + Missense_Mutation SNP G G A TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 17 57987923 57987923 G A SNP RPS6KB1 ENST00000225577 human ensembl 69_37n +1 known missense c.142 p.G48S 1.000 pirsf_Ribosomal_S6_kinase pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom - no_errors RPS6KB1 HGNC ENSG00000108443 202 0 0.00 78 70 47.30 - - - SERAC1 0 genome.wustl.edu 37 6 158535820 158535821 + Frame_Shift_Del DEL CC CC - TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 6 158535820 158535821 CC - DEL SERAC1 ENST00000367104 human ensembl 69_37n -1 known frame_shift_del c.1685_1684 p.D562fs 1.000:0.904 NULL pfam_PGAP1-like,superfamily_ARM-type_fold - no_errors SERAC1 HGNC ENSG00000122335 139 0 0.00 99 24 19.51 - - - TP53 0 genome.wustl.edu 37 17 7579432 7579433 + Frame_Shift_Ins INS - - G TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 17 7579432 7579433 - G INS TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_ins c.255_254 p.A86fs 0.024:0.243 NULL 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 51 0 0.00 11 23 67.65 - - - TTN 0 genome.wustl.edu 37 2 179581989 179581989 + Missense_Mutation SNP T T G TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 2 179581989 179581989 T G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.21740 p.K7247T 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 100 0 0.00 15 29 65.91 - - - UBA7 0 genome.wustl.edu 37 3 49845239 49845239 + Missense_Mutation SNP C C T TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 3 49845239 49845239 C T SNP UBA7 ENST00000333486 human ensembl 69_37n -1 known missense c.2645 p.R882H 1.000 pfam_Ub-activating_enz_e1_C,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA7 HGNC ENSG00000182179 115 0 0.00 45 17 27.42 - - - UBTF 0 genome.wustl.edu 37 17 42290592 42290592 + Missense_Mutation SNP C C T TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 17 42290592 42290592 C T SNP UBTF ENST00000302904 human ensembl 69_37n -1 known missense c.533 p.R178Q 0.993 pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_ARM-type_fold,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_ARM-type_fold,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors UBTF HGNC ENSG00000108312 109 1 0.91 39 24 38.10 - - - USP8 0 genome.wustl.edu 37 15 50741617 50741617 + Missense_Mutation SNP T T G TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 15 50741617 50741617 T G SNP USP8 ENST00000559242 human ensembl 69_37n +1 known missense c.125 p.L42W 1.000 NULL pfam_DUF1873 - no_errors USP8 HGNC ENSG00000138592 109 0 0.00 34 30 46.88 - - - XKR4 0 genome.wustl.edu 37 8 56435983 56435983 + Missense_Mutation SNP G G A TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 8 56435983 56435983 G A SNP XKR4 ENST00000327381 human ensembl 69_37n +1 known missense c.1150 p.A384T 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 412 1 0.24 635 80 11.14 - - - XPC 0 genome.wustl.edu 37 3 14190419 14190419 + Silent SNP C C T TCGA-E2-A1LK-01A-21D-A14G-09 TCGA-E2-A1LK-11A-12D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4e84eed6-82a8-4e91-b0fd-61ec6ef69ce9 a115510a-b18f-43ae-82a8-ec0b4f1a7482 3 14190419 14190419 C T SNP XPC ENST00000285021 human ensembl 69_37n -1 known silent c.2145 p.R715 0.990 pfam_Rad4_beta-hairpin_dom2,tigrfam_DNA_repair_Rad4_subgr pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC ENSG00000154767 80 0 0.00 28 9 24.32 - - -