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 AOX1 0 genome.wustl.edu 37 2 201467067 201467070 + Frame_Shift_Del DEL AAGT AAGT - TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 2 201467067 201467070 AAGT - DEL AOX1 ENST00000374700 human ensembl 69_37n +1 known frame_shift_del c.497_498 p.K166fs 1.000:0.998 superfamily_2Fe-2S-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 91 0 0.00 39 8 17.02 - - - ATPAF1 0 genome.wustl.edu 37 1 47119504 47119504 + Silent SNP G G A TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 1 47119504 47119504 G A SNP ATPAF1 ENST00000576409 human ensembl 69_37n -1 known silent c.594 p.V198 1.000 pfam_ATP11 pfam_ATP11 - no_errors ATPAF1 HGNC ENSG00000123472 88 0 0.00 64 19 22.89 - - - CENPK 0 genome.wustl.edu 37 5 64814460 64814460 + Missense_Mutation SNP T T A TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 5 64814460 64814460 T A SNP CENPK ENST00000242872 human ensembl 69_37n -1 known missense c.652 p.I218F 1.000 pfam_Centromere_CenpK pfam_Centromere_CenpK,superfamily_Prefoldin - no_errors CENPK HGNC ENSG00000123219 48 0 0.00 28 10 26.32 - - - CORO2A 0 genome.wustl.edu 37 9 100888910 100888910 + Missense_Mutation SNP T T G TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 9 100888910 100888910 T G SNP CORO2A ENST00000343933 human ensembl 69_37n -1 known missense c.1367 p.H456P 0.002 NULL pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2A HGNC ENSG00000106789 74 0 0.00 45 9 16.67 - - - CREBBP 0 genome.wustl.edu 37 16 3827658 3827658 + Missense_Mutation SNP T T C TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 16 3827658 3827658 T C SNP CREBBP ENST00000262367 human ensembl 69_37n -1 known missense c.2114 p.N705S 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 43 0 0.00 30 13 30.23 - - - EPS8L2 0 genome.wustl.edu 37 11 722123 722125 + In_Frame_Del DEL CGC CGC - TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 CGC CGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 11 722123 722125 CGC - DEL EPS8L2 ENST00000318562 human ensembl 69_37n +1 known in_frame_del c.1017_1019 p.A341in_frame_del 0.999:1.000:0.998 NULL pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_PTyr_interaction_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 17 0 0.00 11 2 15.38 - - - FAM86B1 0 genome.wustl.edu 37 8 12044262 12044262 + Missense_Mutation SNP G G A TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 8 12044262 12044262 G A SNP FAM86B1 ENST00000321602 human ensembl 69_37n -1 known missense c.5 p.P2L 0.966 NULL NULL - no_errors FAM86B1 HGNC ENSG00000186523 10 0 0.00 13 7 35.00 - - - HS6ST1 0 genome.wustl.edu 37 2 129025860 129025860 + Missense_Mutation SNP C C T TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 2 129025860 129025860 C T SNP HS6ST1 ENST00000259241 human ensembl 69_37n -1 known missense c.1112 p.R371H 1.000 NULL pfam_Sulfotransferase - no_errors HS6ST1 HGNC ENSG00000136720 14 0 0.00 8 5 38.46 - - - HS6ST1 0 genome.wustl.edu 37 2 129075961 129075961 + Silent SNP T T C TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 2 129075961 129075961 T C SNP HS6ST1 ENST00000259241 human ensembl 69_37n -1 known silent c.177 p.T59 1.000 NULL pfam_Sulfotransferase - no_errors HS6ST1 HGNC ENSG00000136720 12 0 0.00 6 7 53.85 - - - KIAA1239 0 genome.wustl.edu 37 4 37446047 37446047 + Missense_Mutation SNP C C A TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 4 37446047 37446047 C A SNP KIAA1239 ENST00000309447 human ensembl 69_37n +1 known missense c.2437 p.Q813K 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 27 0 0.00 15 17 53.12 - - - KRT31 0 genome.wustl.edu 37 17 39551243 39551243 + Silent SNP G G T TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 17 39551243 39551243 G T SNP KRT31 ENST00000251645 human ensembl 69_37n -1 known silent c.954 p.I318 0.997 pfam_F,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT31 HGNC ENSG00000094796 110 0 0.00 99 87 46.77 - - - LPPR2 0 genome.wustl.edu 37 19 11475316 11475316 + Missense_Mutation SNP C C T TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 19 11475316 11475316 C T SNP LPPR2 ENST00000591608 human ensembl 69_37n +1 known missense c.1234 p.R412W 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR2 Clone_based_vega_gene ENSG00000105520 42 0 0.00 15 4 19.05 - - - MAP3K1 0 genome.wustl.edu 37 5 56177035 56177035 + Missense_Mutation SNP C C T TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 5 56177035 56177035 C T SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel missense c.2305 p.P769S 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 139 0 0.00 81 15 15.62 - - - MCAM 0 genome.wustl.edu 37 11 119185262 119185262 + Missense_Mutation SNP C C T TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 11 119185262 119185262 C T SNP MCAM ENST00000264036 human ensembl 69_37n -1 known missense c.496 p.G166R 0.981 pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MCAM HGNC ENSG00000076706 29 0 0.00 12 12 50.00 - - - MOCOS 0 genome.wustl.edu 37 18 33785062 33785062 + Silent SNP G G A TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 18 33785062 33785062 G A SNP MOCOS ENST00000261326 human ensembl 69_37n +1 known silent c.1041 p.Q347 0.656 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 50 0 0.00 34 11 24.44 - - - MRPS7 0 genome.wustl.edu 37 17 73259535 73259536 + Frame_Shift_Del DEL TG TG - TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 17 73259535 73259536 TG - DEL MRPS7 ENST00000245539 human ensembl 69_37n +1 known frame_shift_del c.454_455 p.C152fs 1.000:1.000 pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom - no_errors MRPS7 HGNC ENSG00000125445 67 0 0.00 47 13 21.31 - - - MUC4 0 genome.wustl.edu 37 3 195506940 195506940 + Missense_Mutation SNP G G C TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 3 195506940 195506940 G C SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.11511 p.H3837Q 0.197 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 36 0 0.00 40 5 11.11 - - - MXRA5 0 genome.wustl.edu 37 X 3242907 3242907 + Missense_Mutation SNP C C A TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 X 3242907 3242907 C A SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known missense c.819 p.M273I 0.000 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,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 MXRA5 HGNC ENSG00000101825 70 0 0.00 39 10 20.41 - - - NFIB 0 genome.wustl.edu 37 9 14307139 14307139 + Silent SNP C C G TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 9 14307139 14307139 C G SNP NFIB ENST00000397581 human ensembl 69_37n -1 known silent c.411 p.L137 1.000 pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIB HGNC ENSG00000147862 85 0 0.00 42 8 16.00 - - - PHKA2 0 genome.wustl.edu 37 X 18911702 18911702 + Missense_Mutation SNP G G T TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 X 18911702 18911702 G T SNP PHKA2 ENST00000379942 human ensembl 69_37n -1 known missense c.3609 p.S1203R 0.755 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 86 0 0.00 38 8 17.39 - - - PTPRZ1 0 genome.wustl.edu 37 7 121659196 121659196 + Missense_Mutation SNP A A G TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 7 121659196 121659196 A G SNP PTPRZ1 ENST00000393386 human ensembl 69_37n +1 known missense c.4862 p.H1621R 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,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,pfscan_Carbonic_anhydrase_a - no_errors PTPRZ1 HGNC ENSG00000106278 138 0 0.00 78 12 13.33 - - - RNA5SP283 0 genome.wustl.edu 37 9 66458151 66458151 + RNA DEL G G - TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 9 66458151 66458151 G - DEL RNA5SP283 ENST00000365604 human ensembl 69_37n -1 known rna NULL NULL 0.033 - - - no_errors RNA5SP283 HGNC ENSG00000202474 15 0 0.00 3 2 40.00 - - - SEPHS1 0 genome.wustl.edu 37 10 13378339 13378339 + Silent SNP C C T TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 10 13378339 13378339 C T SNP SEPHS1 ENST00000327347 human ensembl 69_37n -1 known silent c.309 p.A103 0.756 pfam_AIR_synth,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C,pfam_AIR_synth,superfamily_AIR_synth_C,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS1 HGNC ENSG00000086475 59 0 0.00 35 14 28.57 - - - SF3B2 0 genome.wustl.edu 37 11 65826508 65826508 + Missense_Mutation SNP G G A TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 11 65826508 65826508 G A SNP SF3B2 ENST00000322535 human ensembl 69_37n +1 known missense c.1174 p.A392T 1.000 NULL pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd - no_errors SF3B2 HGNC ENSG00000087365 52 0 0.00 32 7 17.95 - - - SLC41A3 0 genome.wustl.edu 37 3 125727702 125727702 + Missense_Mutation SNP C C T TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 3 125727702 125727702 C T SNP SLC41A3 ENST00000315891 human ensembl 69_37n -1 known missense c.1127 p.R376Q 1.000 pfam_MgtE_Mg_transptr_membr pfam_MgtE_Mg_transptr_membr,superfamily_Acyl_Trfase/lysoPLipase - no_errors SLC41A3 HGNC ENSG00000114544 28 0 0.00 11 12 52.17 - - - SLC7A8 0 genome.wustl.edu 37 14 23609736 23609736 + Missense_Mutation SNP G G T TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 14 23609736 23609736 G T SNP SLC7A8 ENST00000339733 human ensembl 69_37n -1 known missense c.368 p.P123H 1.000 pfam_AA-permease_dom pfam_AA-permease_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SLC7A8 HGNC ENSG00000092068 59 0 0.00 35 4 10.26 - - - TP53 0 genome.wustl.edu 37 17 7577609 7577609 + Splice_Site SNP C C T TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 17 7577609 7577609 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known splice_site c.673-1 e6-1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 63 0 0.00 17 17 50.00 - - - TRIB2 0 genome.wustl.edu 37 2 12880637 12880637 + Missense_Mutation SNP G G A TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 2 12880637 12880637 G A SNP TRIB2 ENST00000155926 human ensembl 69_37n +1 known missense c.749 p.G250E 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,pfscan_Prot_kinase_cat_dom - no_errors TRIB2 HGNC ENSG00000071575 40 0 0.00 25 12 32.43 - - - TSPAN12 0 genome.wustl.edu 37 7 120446741 120446741 + Missense_Mutation SNP C C A TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 7 120446741 120446741 C A SNP TSPAN12 ENST00000222747 human ensembl 69_37n -1 known missense c.474 p.K158N 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN12 HGNC ENSG00000106025 47 0 0.00 34 6 15.00 - - - TTN 0 genome.wustl.edu 37 2 179469435 179469435 + Silent SNP C C G TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 2 179469435 179469435 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.46677 p.G15559 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 85 0 0.00 53 22 29.33 - - - XIRP2 0 genome.wustl.edu 37 2 168102346 168102346 + Missense_Mutation SNP G G T TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 2 168102346 168102346 G T SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known missense c.4444 p.V1482L 0.656 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 40 0 0.00 35 9 20.45 - - - ZBTB38 0 genome.wustl.edu 37 3 141161656 141161656 + Silent SNP A A C TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx afe70076-1044-4fdd-bebc-14a97b1a8363 24968a8a-5969-4b98-9d06-f286f771fb53 3 141161656 141161656 A C SNP ZBTB38 ENST00000321464 human ensembl 69_37n +1 known silent c.429 p.G143 0.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 47 0 0.00 33 6 15.38 - - -