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 ADAMTS9 0 genome.wustl.edu 37 3 64547294 64547294 + Missense_Mutation SNP C C T TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 3 64547294 64547294 C T SNP ADAMTS9 ENST00000498707 human ensembl 69_37n -1 known missense c.4658 p.R1553Q 0.056 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS9 HGNC ENSG00000163638 57 0 0.00 25 12 32.43 - - - AKAP9 0 genome.wustl.edu 37 7 91667987 91667987 + Silent SNP A A G TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 7 91667987 91667987 A G SNP AKAP9 ENST00000359028 human ensembl 69_37n +1 known silent c.4629 p.S1543 0.009 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like - no_errors AKAP9 HGNC ENSG00000127914 13 0 0.00 7 7 50.00 - - - AMOT 0 genome.wustl.edu 37 X 112058873 112058873 + Missense_Mutation SNP G G C TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc X 112058873 112058873 G C SNP AMOT ENST00000371959 human ensembl 69_37n -1 known missense c.1105 p.L369V 0.576 NULL pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 81 0 0.00 36 5 12.20 - - - ANK2 0 genome.wustl.edu 37 4 114223960 114223960 + Missense_Mutation SNP C C T TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 4 114223960 114223960 C T SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known missense c.2513 p.T838M 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 74 0 0.00 60 12 16.67 - - - BRD1 0 genome.wustl.edu 37 22 50191767 50191767 + Splice_Site SNP T T C TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 22 50191767 50191767 T C SNP BRD1 ENST00000216267 human ensembl 69_37n -1 known splice_site c.1786-2 e5-2 1.000 - - - no_errors BRD1 HGNC ENSG00000100425 62 0 0.00 27 3 10.00 - - - BTN3A1 0 genome.wustl.edu 37 6 26406424 26406424 + Silent SNP T T C TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 6 26406424 26406424 T C SNP BTN3A1 ENST00000289361 human ensembl 69_37n +1 known silent c.373 p.L125 0.234 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN3A1 HGNC ENSG00000026950 10 0 0.00 9 6 40.00 - - - CD163L1 0 genome.wustl.edu 37 12 7586027 7586027 + Missense_Mutation SNP G G A TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 12 7586027 7586027 G A SNP CD163L1 ENST00000313599 human ensembl 69_37n -1 known missense c.388 p.R130W 0.002 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 80 0 0.00 35 18 33.96 - - - CELP 0 genome.wustl.edu 37 9 135962591 135962593 + RNA DEL TGT TGT - TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 9 135962591 135962593 TGT - DEL CELP ENST00000411440 human ensembl 69_37n +1 known rna NULL NULL 0.004:0.003:0.001 - - - no_errors CELP HGNC ENSG00000170827 10 0 0.00 11 4 26.67 - - - CSMD1 0 genome.wustl.edu 37 8 3265427 3265427 + Frame_Shift_Del DEL A A - TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 8 3265427 3265427 A - DEL CSMD1 ENST00000520002 human ensembl 69_37n -1 known frame_shift_del c.2068 p.Y690fs 0.993 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 19 0 0.00 2 2 50.00 - - - CTNNA2 0 genome.wustl.edu 37 2 80085281 80085281 + Missense_Mutation SNP G G A TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 2 80085281 80085281 G A SNP CTNNA2 ENST00000361291 human ensembl 69_37n +1 known missense c.543 p.M181I 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 49 0 0.00 14 7 33.33 - - - CTSH 0 genome.wustl.edu 37 15 79229660 79229661 + Frame_Shift_Del DEL TT TT - TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 15 79229660 79229661 TT - DEL CTSH ENST00000220166 human ensembl 69_37n -1 known frame_shift_del c.229_228 p.K76fs 0.995:0.935 pfam_Prot_inhib_I29,smart_Prot_inhib_I29 pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSH HGNC ENSG00000103811 63 0 0.00 37 5 11.36 - - - CX3CL1 0 genome.wustl.edu 37 16 57413657 57413657 + Missense_Mutation SNP G G T TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 16 57413657 57413657 G T SNP CX3CL1 ENST00000006053 human ensembl 69_37n +1 known missense c.182 p.R61L 0.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1 - no_errors CX3CL1 HGNC ENSG00000006210 64 0 0.00 16 12 42.86 - - - DSPP 0 genome.wustl.edu 37 4 88536919 88536919 + Silent SNP T T C TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 4 88536919 88536919 T C SNP DSPP ENST00000282478 human ensembl 69_37n +1 known silent c.3105 p.D1035 0.954 NULL NULL - no_errors DSPP HGNC ENSG00000152591 58 0 0.00 30 13 29.55 - - - ENG 0 genome.wustl.edu 37 9 130580444 130580444 + Silent SNP G G A TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 9 130580444 130580444 G A SNP ENG ENST00000373203 human ensembl 69_37n -1 known silent c.1641 p.L547 0.995 pfam_Zona_pellucida_Endoglin/CD105 pfam_Zona_pellucida_Endoglin/CD105 - no_errors ENG HGNC ENSG00000106991 88 0 0.00 48 21 30.43 - - - ETV5 0 genome.wustl.edu 37 3 185797727 185797727 + Missense_Mutation SNP C C G TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 3 185797727 185797727 C G SNP ETV5 ENST00000537818 human ensembl 69_37n -1 known missense c.655 p.A219P 0.799 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV5 HGNC ENSG00000244405 40 0 0.00 20 24 54.55 - - - FAM86B1 0 genome.wustl.edu 37 8 12040822 12040822 + RNA SNP A A G TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 8 12040822 12040822 A G SNP FAM86B1 ENST00000529146 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors FAM86B1 HGNC ENSG00000186523 29 0 0.00 14 3 17.65 - - - FAT1 0 genome.wustl.edu 37 4 187521114 187521114 + Missense_Mutation SNP G G A TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 4 187521114 187521114 G A SNP FAT1 ENST00000441802 human ensembl 69_37n -1 known missense c.12041 p.T4014M 0.042 pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 74 0 0.00 53 7 11.67 - - - FBXO33 0 genome.wustl.edu 37 14 39900893 39900893 + Silent SNP A A C TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 14 39900893 39900893 A C SNP FBXO33 ENST00000298097 human ensembl 69_37n -1 known silent c.474 p.G158 0.805 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO33 HGNC ENSG00000165355 60 0 0.00 18 14 43.75 - - - FLJ44006 0 genome.wustl.edu 37 2 111858670 111858670 + RNA SNP C C A TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 2 111858670 111858670 C A SNP FLJ44006 ENST00000376593 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors AC096670.3 Clone_based_vega_gene ENSG00000204581 62 0 0.00 27 6 18.18 - - - FOXP1 0 genome.wustl.edu 37 3 71096185 71096185 + Nonsense_Mutation SNP A A T TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 3 71096185 71096185 A T SNP FOXP1 ENST00000318789 human ensembl 69_37n -1 known nonsense c.572 p.L191* 0.873 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 39 0 0.00 21 10 32.26 - - - GPRIN2 0 genome.wustl.edu 37 10 46999484 46999484 + Missense_Mutation SNP G G T TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 10 46999484 46999484 G T SNP GPRIN2 ENST00000374314 human ensembl 69_37n +1 known missense c.604 p.G202W 0.015 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 86 0 0.00 35 4 10.26 - - - HNRNPR 0 genome.wustl.edu 37 1 23640179 23640182 + Frame_Shift_Del DEL ACAA ACAA - TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 ACAA ACAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 1 23640179 23640182 ACAA - DEL HNRNPR ENST00000374616 human ensembl 69_37n -1 known frame_shift_del c.1043_1040 p.F347fs 1.000:1.000:1.000:1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors HNRNPR HGNC ENSG00000125944 53 0 0.00 48 6 10.91 - - - KCNH4 0 genome.wustl.edu 37 17 40322248 40322248 + Missense_Mutation SNP G G A TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 17 40322248 40322248 G A SNP KCNH4 ENST00000264661 human ensembl 69_37n -1 known missense c.1267 p.R423C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 53 0 0.00 22 9 29.03 - - - LINC00304 0 genome.wustl.edu 37 16 89226651 89226651 + RNA SNP G G A TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 16 89226651 89226651 G A SNP LINC00304 ENST00000321214 human ensembl 69_37n +1 known rna NULL NULL 0.014 - - - no_errors LINC00304 HGNC ENSG00000180422 39 0 0.00 22 7 24.14 - - - LMO7 0 genome.wustl.edu 37 13 76409442 76409442 + Frame_Shift_Del DEL A A - TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 13 76409442 76409442 A - DEL LMO7 ENST00000357063 human ensembl 69_37n +1 known frame_shift_del c.3456 p.T1153fs 0.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 37 0 0.00 10 2 16.67 - - - MAD2L1 0 genome.wustl.edu 37 4 120986906 120986906 + Silent SNP C C T TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 4 120986906 120986906 C T SNP MAD2L1 ENST00000296509 human ensembl 69_37n -1 known silent c.141 p.Q47 1.000 pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors MAD2L1 HGNC ENSG00000164109 70 0 0.00 41 12 22.64 - - - MAP7D2 0 genome.wustl.edu 37 X 20043896 20043896 + Silent SNP G G A TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc X 20043896 20043896 G A SNP MAP7D2 ENST00000379643 human ensembl 69_37n -1 known silent c.1182 p.G394 0.000 NULL pfam_E-MAP-115 - no_errors MAP7D2 HGNC ENSG00000184368 118 0 0.00 67 13 16.25 - - - MLL3 0 genome.wustl.edu 37 7 151868358 151868358 + Frame_Shift_Del DEL G G - TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 7 151868358 151868358 G - DEL MLL3 ENST00000355193 human ensembl 69_37n -1 known frame_shift_del c.9444 p.I3149fs 0.003 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 48 0 0.00 26 14 35.00 - - - MLL3 0 genome.wustl.edu 37 7 151868360 151868360 + Missense_Mutation SNP C C A TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 7 151868360 151868360 C A SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known missense c.9442 p.A3148S 0.950 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 51 0 0.00 25 14 35.90 - - - MRE11A 0 genome.wustl.edu 37 11 94163112 94163112 + Missense_Mutation SNP G G T TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 11 94163112 94163112 G T SNP MRE11A ENST00000323929 human ensembl 69_37n -1 known missense c.2035 p.Q679K 0.943 pirsf_DNA_repair_Mre11 pfam_Mre11_DNA-bd,pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 - no_errors MRE11A HGNC ENSG00000020922 61 0 0.00 33 4 10.81 - - - MSR1 0 genome.wustl.edu 37 8 16043667 16043667 + Splice_Site SNP C C T TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 8 16043667 16043667 C T SNP MSR1 ENST00000445506 human ensembl 69_37n -1 putative splice_site c.50+1 e1+1 0.001 - - - no_errors MSR1 HGNC ENSG00000038945 64 0 0.00 18 4 18.18 - - - MTPAP 0 genome.wustl.edu 37 10 30653864 30653864 + Silent SNP A A C TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 10 30653864 30653864 A C SNP MTPAP ENST00000358107 human ensembl 69_37n -1 known silent c.318 p.G106 0.011 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 66 0 0.00 17 18 50.00 - - - N4BP2L1 0 genome.wustl.edu 37 13 32976872 32976872 + RNA SNP C C T TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 13 32976872 32976872 C T SNP N4BP2L1 ENST00000459716 human ensembl 69_37n -1 known rna NULL NULL 0.037 - - - no_errors N4BP2L1 HGNC ENSG00000139597 49 0 0.00 71 14 16.47 - - - NHS 0 genome.wustl.edu 37 X 17705940 17705940 + Missense_Mutation SNP T T C TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc X 17705940 17705940 T C SNP NHS ENST00000380060 human ensembl 69_37n +1 known missense c.644 p.L215P 0.994 NULL NULL - no_errors NHS HGNC ENSG00000188158 236 2 0.84 116 32 21.62 - - - NHS 0 genome.wustl.edu 37 X 17705956 17705956 + Silent SNP A A C TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc X 17705956 17705956 A C SNP NHS ENST00000380060 human ensembl 69_37n +1 known silent c.660 p.P220 0.039 NULL NULL - no_errors NHS HGNC ENSG00000188158 217 1 0.46 94 40 29.85 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 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 59 0 0.00 33 13 28.26 - - - PMEPA1 0 genome.wustl.edu 37 20 56284592 56284593 + In_Frame_Ins INS - - CGG TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 20 56284592 56284593 - CGG INS PMEPA1 ENST00000341744 human ensembl 69_37n -1 known in_frame_ins c.47_46 p.16in_frame_insA 0.998:0.994 NULL NULL - no_errors PMEPA1 HGNC ENSG00000124225 8 0 0.00 3 3 50.00 - - - PPP2R3A 0 genome.wustl.edu 37 3 135745748 135745748 + Silent SNP T T G TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 3 135745748 135745748 T G SNP PPP2R3A ENST00000264977 human ensembl 69_37n +1 known silent c.2070 p.P690 0.829 NULL pfscan_EF_HAND_2 - no_errors PPP2R3A HGNC ENSG00000073711 53 0 0.00 25 8 24.24 - - - PTMS 0 genome.wustl.edu 37 12 6879662 6879662 + RNA SNP T T G TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 12 6879662 6879662 T G SNP PTMS ENST00000538057 human ensembl 69_37n +1 known rna NULL NULL 0.040 - - - no_errors PTMS HGNC ENSG00000159335 43 0 0.00 25 14 35.90 - - - QRICH2 0 genome.wustl.edu 37 17 74300977 74300977 + Frame_Shift_Del DEL G G - TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 17 74300977 74300977 G - DEL QRICH2 ENST00000262765 human ensembl 69_37n -1 known frame_shift_del c.82 p.R28fs 0.000 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 44 0 0.00 31 8 20.51 - - - RECQL5 0 genome.wustl.edu 37 17 73661205 73661205 + Silent SNP G G A TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 17 73661205 73661205 G A SNP RECQL5 ENST00000317905 human ensembl 69_37n -1 known silent c.178 p.L60 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 47 0 0.00 26 13 33.33 - - - SEPT7L 0 genome.wustl.edu 37 10 38680623 38680623 + RNA SNP G G A TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 10 38680623 38680623 G A SNP SEPT7L ENST00000468615 human ensembl 69_37n -1 known rna NULL NULL 0.006 - - - no_errors SEPT7L HGNC ENSG00000120555 8 0 0.00 3 3 50.00 - - - SERPINB6 0 genome.wustl.edu 37 6 2955875 2955875 + Missense_Mutation SNP A A C TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 6 2955875 2955875 A C SNP SERPINB6 ENST00000380500 human ensembl 69_37n -1 known missense c.161 p.V54G 0.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SERPINB6 HGNC ENSG00000124570 37 0 0.00 9 13 59.09 - - - SIPA1L2 0 genome.wustl.edu 37 1 232650900 232650900 + Silent SNP A A C TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 1 232650900 232650900 A C SNP SIPA1L2 ENST00000262861 human ensembl 69_37n -1 known silent c.186 p.G62 0.056 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC ENSG00000116991 75 0 0.00 15 13 46.43 - - - SPECC1L 0 genome.wustl.edu 37 22 24718381 24718381 + Missense_Mutation SNP T T G TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 22 24718381 24718381 T G SNP SPECC1L ENST00000314328 human ensembl 69_37n +1 known missense c.1433 p.V478G 0.158 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_HLH_DNA-bd,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 50 0 0.00 12 15 55.56 - - - SSC5D 0 genome.wustl.edu 37 19 56000809 56000809 + Silent SNP C C T TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 19 56000809 56000809 C T SNP SSC5D ENST00000389623 human ensembl 69_37n +1 known silent c.141 p.D47 0.978 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,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors SSC5D HGNC ENSG00000179954 11 0 0.00 0 4 100.00 - - - TMCO3 0 genome.wustl.edu 37 13 114188430 114188430 + Missense_Mutation SNP C C T TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 13 114188430 114188430 C T SNP TMCO3 ENST00000434316 human ensembl 69_37n +1 known missense c.1414 p.L472F 0.986 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 73 0 0.00 24 12 33.33 - - - TPTE2P1 0 genome.wustl.edu 37 13 25541467 25541467 + RNA SNP C C T TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 13 25541467 25541467 C T SNP TPTE2P1 ENST00000381871 human ensembl 69_37n -1 known rna NULL NULL 0.009 - - - no_errors TPTE2P1 HGNC ENSG00000253771 46 0 0.00 12 3 20.00 - - - TRPV5 0 genome.wustl.edu 37 7 142622659 142622659 + Nonsense_Mutation SNP G G A TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 7 142622659 142622659 G A SNP TRPV5 ENST00000265310 human ensembl 69_37n -1 known nonsense c.1087 p.R363* 0.229 tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV5_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV5 HGNC ENSG00000127412 102 0 0.00 48 8 14.29 - - - URGCP 0 genome.wustl.edu 37 7 43916996 43916996 + Missense_Mutation SNP C C T TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 7 43916996 43916996 C T SNP URGCP ENST00000453200 human ensembl 69_37n -1 known missense c.2066 p.R689Q 0.006 NULL prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 66 0 0.00 37 10 21.28 - - - XYLT1 0 genome.wustl.edu 37 16 17292094 17292094 + Silent SNP G G A TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 16 17292094 17292094 G A SNP XYLT1 ENST00000261381 human ensembl 69_37n -1 known silent c.1264 p.L422 1.000 pfam_Glyco_trans_14 pfam_XylT_met,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 39 0 0.00 35 5 12.50 - - - ZAN 0 genome.wustl.edu 37 7 100349919 100349919 + Missense_Mutation SNP T T C TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 7 100349919 100349919 T C SNP ZAN ENST00000546292 human ensembl 69_37n +1 known missense c.2191 p.S731P 0.000 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 38 0 0.00 34 13 27.66 - - - ZNF479 0 genome.wustl.edu 37 7 57187740 57187740 + Missense_Mutation SNP C C A TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 7 57187740 57187740 C A SNP ZNF479 ENST00000331162 human ensembl 69_37n -1 known missense c.1382 p.G461V 0.999 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF479 HGNC ENSG00000185177 75 0 0.00 38 9 19.15 - - - ZNF705B 0 genome.wustl.edu 37 8 7808219 7808219 + Missense_Mutation SNP A A T TCGA-B6-A408-01A-12D-A243-09 TCGA-B6-A408-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 55539a81-a4a3-48d0-86d0-bc3a348762b0 4de56ac4-62c7-4512-8608-7888a58fb4cc 8 7808219 7808219 A T SNP ZNF705B ENST00000400120 human ensembl 69_37n +1 known missense c.268 p.I90L 0.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF705B HGNC ENSG00000215356 82 0 0.00 14 3 17.65 - - -