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 ANKRD11 0 genome.wustl.edu 37 16 89345615 89345615 + Missense_Mutation SNP C C A TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 16 89345615 89345615 C A SNP ANKRD11 ENST00000301030 human ensembl 69_37n -1 known missense c.7335 p.R2445S 0.749 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 42 0 0.00 26 36 58.06 - - - CNTRL 0 genome.wustl.edu 37 9 123904505 123904507 + In_Frame_Del DEL AGA AGA - TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 9 123904505 123904507 AGA - DEL CNTRL ENST00000238341 human ensembl 69_37n +1 known in_frame_del c.2828_2830 p.K944in_frame_del 1.000:1.000:1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 18 0 0.00 20 11 35.48 - - - CYP24A1 0 genome.wustl.edu 37 20 52773723 52773723 + Nonsense_Mutation SNP G G A TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 20 52773723 52773723 G A SNP CYP24A1 ENST00000216862 human ensembl 69_37n -1 known nonsense c.1540 p.R514* 0.338 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP24A1 HGNC ENSG00000019186 26 0 0.00 35 14 28.57 - - - DCHS1 0 genome.wustl.edu 37 11 6644754 6644754 + Missense_Mutation SNP T T C TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 11 6644754 6644754 T C SNP DCHS1 ENST00000299441 human ensembl 69_37n -1 known missense c.8153 p.N2718S 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 34 0 0.00 13 7 35.00 - - - FAM22F 0 genome.wustl.edu 37 9 97084511 97084511 + Missense_Mutation SNP G G A TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 9 97084511 97084511 G A SNP FAM22F ENST00000253262 human ensembl 69_37n -1 known missense c.814 p.R272W 0.068 NULL NULL - no_errors FAM22F HGNC ENSG00000130950 109 1 0.91 21 22 51.16 - - - FAM5B 0 genome.wustl.edu 37 1 177247731 177247731 + Missense_Mutation SNP G G A TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 1 177247731 177247731 G A SNP FAM5B ENST00000361539 human ensembl 69_37n +1 known missense c.1045 p.D349N 0.003 NULL pfam_MACPF,smart_MACPF - no_errors FAM5B HGNC ENSG00000198797 17 0 0.00 14 9 39.13 - - - FBN1 0 genome.wustl.edu 37 15 48707819 48707819 + Silent SNP C C T TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 15 48707819 48707819 C T SNP FBN1 ENST00000316623 human ensembl 69_37n -1 known silent c.7965 p.A2655 0.000 pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 23 0 0.00 36 16 30.77 - - - FBN3 0 genome.wustl.edu 37 19 8210774 8210775 + Frame_Shift_Ins INS - - C TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 19 8210774 8210775 - C INS FBN3 ENST00000270509 human ensembl 69_37n -1 known frame_shift_ins c.398_397 p.A133fs 0.998:1.000 smart_EGF-like,pirsf_Fibrillin pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 27 0 0.00 11 2 15.38 - - - IFT140 0 genome.wustl.edu 37 16 1621431 1621431 + Missense_Mutation SNP A A T TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 16 1621431 1621431 A T SNP IFT140 ENST00000426508 human ensembl 69_37n -1 known missense c.1629 p.F543L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 26 0 0.00 21 11 34.38 - - - KIAA1239 0 genome.wustl.edu 37 4 37446795 37446796 + Frame_Shift_Del DEL AT AT - TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 4 37446795 37446796 AT - DEL KIAA1239 ENST00000309447 human ensembl 69_37n +1 known frame_shift_del c.3185_3186 p.N1062fs 1.000:1.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 82 0 0.00 46 28 37.84 - - - KIAA1239 0 genome.wustl.edu 37 4 37446805 37446805 + Frame_Shift_Del DEL A A - TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 4 37446805 37446805 A - DEL KIAA1239 ENST00000309447 human ensembl 69_37n +1 known frame_shift_del c.3195 p.L1066fs 0.003 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 85 0 0.00 51 30 36.59 - - - LARP7 0 genome.wustl.edu 37 4 113575296 113575296 + Missense_Mutation SNP A A T TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 4 113575296 113575296 A T SNP LARP7 ENST00000324052 human ensembl 69_37n +1 known missense c.1649 p.K550M 1.000 pfam_RRM_3 pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 64 0 0.00 21 25 54.35 - - - MICAL3 0 genome.wustl.edu 37 22 18305741 18305742 + Frame_Shift_Ins INS - - G TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 22 18305741 18305742 - G INS MICAL3 ENST00000441493 human ensembl 69_37n -1 known frame_shift_ins c.3279_3278 p.G1094fs 0.023:0.626 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 72 0 0.00 17 2 10.53 - - - NAA11 0 genome.wustl.edu 37 4 80246803 80246803 + Missense_Mutation SNP C C T TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 4 80246803 80246803 C T SNP NAA11 ENST00000286794 human ensembl 69_37n -1 known missense c.229 p.V77M 1.000 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA11 HGNC ENSG00000156269 62 0 0.00 14 17 53.12 - - - NACAP1 0 genome.wustl.edu 37 8 102381649 102381650 + RNA INS - - A TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 8 102381649 102381650 - A INS NACAP1 ENST00000419462 human ensembl 69_37n +1 known rna NULL NULL 1.000:1.000 - - - no_errors NACAP1 HGNC ENSG00000228224 63 0 0.00 189 35 15.62 - - - NDUFA1 0 genome.wustl.edu 37 X 119005895 119005895 + Silent SNP C C T TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d X 119005895 119005895 C T SNP NDUFA1 ENST00000371437 human ensembl 69_37n +1 known silent c.21 p.P7 0.730 pirsf_NADH_Ub_cplx-1_asu_su-1 pirsf_NADH_Ub_cplx-1_asu_su-1 - no_errors NDUFA1 HGNC ENSG00000125356 52 0 0.00 31 4 11.43 - - - PDCD11 0 genome.wustl.edu 37 10 105200305 105200305 + Silent SNP C C T TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 10 105200305 105200305 C T SNP PDCD11 ENST00000369797 human ensembl 69_37n +1 known silent c.4407 p.G1469 0.964 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 35 0 0.00 24 13 35.14 - - - PIK3C2A 0 genome.wustl.edu 37 11 17190547 17190547 + Missense_Mutation SNP T T A TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 11 17190547 17190547 T A SNP PIK3C2A ENST00000265970 human ensembl 69_37n -1 known missense c.742 p.I248L 0.893 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 32 0 0.00 46 38 45.24 - - - PIK3R1 0 genome.wustl.edu 37 5 67591083 67591083 + Missense_Mutation SNP T T C TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 5 67591083 67591083 T C SNP PIK3R1 ENST00000396611 human ensembl 69_37n +1 known missense c.1676 p.I559T 1.000 prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 64 0 0.00 33 32 49.23 - - - PTHLH 0 genome.wustl.edu 37 12 28116584 28116584 + Missense_Mutation SNP G G A TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 12 28116584 28116584 G A SNP PTHLH ENST00000354417 human ensembl 69_37n -1 known missense c.221 p.A74V 1.000 pfam_PTH/PTH-rel pfam_PTH/PTH-rel,smart_PTH/PTH-rel - no_errors PTHLH HGNC ENSG00000087494 58 0 0.00 53 33 38.37 - - - RAB30 0 genome.wustl.edu 37 11 82708280 82708280 + Silent SNP G G T TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 11 82708280 82708280 G T SNP RAB30 ENST00000260056 human ensembl 69_37n -1 known silent c.79 p.R27 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB30 HGNC ENSG00000137502 81 0 0.00 84 53 38.69 - - - RASGRP3 0 genome.wustl.edu 37 2 33749009 33749009 + Missense_Mutation SNP T T C TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 2 33749009 33749009 T C SNP RASGRP3 ENST00000402538 human ensembl 69_37n +1 known missense c.580 p.S194P 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP3 HGNC ENSG00000152689 41 0 0.00 49 8 14.04 - - - STK32A 0 genome.wustl.edu 37 5 146750276 146750276 + Silent SNP G G C TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 5 146750276 146750276 G C SNP STK32A ENST00000397936 human ensembl 69_37n +1 known silent c.720 p.T240 0.024 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 STK32A HGNC ENSG00000169302 47 0 0.00 47 41 46.59 - - - TAF3 0 genome.wustl.edu 37 10 8006644 8006644 + Missense_Mutation SNP A A G TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 10 8006644 8006644 A G SNP TAF3 ENST00000344293 human ensembl 69_37n +1 known missense c.1171 p.I391V 0.936 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 23 0 0.00 30 17 36.17 - - - TMEM37 0 genome.wustl.edu 37 2 120194728 120194729 + Frame_Shift_Ins INS - - T TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 2 120194728 120194729 - T INS TMEM37 ENST00000306406 human ensembl 69_37n +1 known frame_shift_ins c.285_286 p.A95fs 0.000:0.006 NULL NULL - no_errors TMEM37 HGNC ENSG00000171227 37 0 0.00 20 3 13.04 - - - TP53 0 genome.wustl.edu 37 17 7578413 7578413 + Missense_Mutation SNP C C G TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 17 7578413 7578413 C G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.517 p.V173L 0.996 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor 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 48 0 0.00 36 45 55.56 - - - TTN 0 genome.wustl.edu 37 2 179545856 179545856 + Missense_Mutation SNP A A G TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 2 179545856 179545856 A G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.29558 p.I9853T 1.000 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom 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 38 0 0.00 51 29 36.25 - - - ZZEF1 0 genome.wustl.edu 37 17 3992057 3992057 + Missense_Mutation SNP C C T TCGA-BH-A1FD-01A-11W-A14Q-09 TCGA-BH-A1FD-11B-21D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b372b5cd-4c38-4cd3-95e0-8708ce5437e7 34eb56b6-eb28-46ca-a5f4-e61a14447e5d 17 3992057 3992057 C T SNP ZZEF1 ENST00000381638 human ensembl 69_37n -1 known missense c.2156 p.C719Y 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 75 0 0.00 72 14 16.28 - - -