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 ABHD16A 0 genome.wustl.edu 37 6 31655488 31655488 + Missense_Mutation SNP C C T TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 6 31655488 31655488 C T SNP ABHD16A ENST00000395952 human ensembl 69_37n -1 known missense c.1477 p.E493K 1.000 NULL pfam_AB_hydrolase_1 - no_errors ABHD16A HGNC ENSG00000204427 147 0 0.00 104 28 21.21 - - - ACAD11 0 genome.wustl.edu 37 3 132378462 132378462 + Missense_Mutation SNP G G T TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 3 132378462 132378462 G T SNP ACAD11 ENST00000264990 human ensembl 69_37n -1 known missense c.134 p.T45N 0.001 superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ENSG00000240303 38 0 0.00 17 5 22.73 - - - ANKRD13C 0 genome.wustl.edu 37 1 70758132 70758132 + Missense_Mutation SNP C C T TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 1 70758132 70758132 C T SNP ANKRD13C ENST00000370944 human ensembl 69_37n -1 known missense c.1154 p.R385Q 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD13C HGNC ENSG00000118454 143 0 0.00 176 46 20.72 - - - AQP10 0 genome.wustl.edu 37 1 154293636 154293636 + Missense_Mutation SNP T T C TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 1 154293636 154293636 T C SNP AQP10 ENST00000324978 human ensembl 69_37n +1 known missense c.5 p.V2A 0.000 NULL pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_Aquaporin - no_errors AQP10 HGNC ENSG00000143595 36 0 0.00 51 66 56.41 - - - ATM 0 genome.wustl.edu 37 11 108129723 108129723 + Missense_Mutation SNP A A C TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 11 108129723 108129723 A C SNP ATM ENST00000278616 human ensembl 69_37n +1 known missense c.2387 p.N796T 0.351 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 49 0 0.00 38 15 28.30 - - - ATXN1 0 genome.wustl.edu 37 6 16328465 16328465 + Missense_Mutation SNP G G C TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 6 16328465 16328465 G C SNP ATXN1 ENST00000244769 human ensembl 69_37n -1 known missense c.77 p.S26C 0.892 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 26 0 0.00 46 10 17.86 - - - ATXN2L 0 genome.wustl.edu 37 16 28842080 28842080 + Missense_Mutation SNP C C T TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 16 28842080 28842080 C T SNP ATXN2L ENST00000565971 human ensembl 69_37n +1 known missense c.620 p.A207V 1.000 NULL NULL - no_start_codon ATXN2L HGNC ENSG00000168488 37 0 0.00 21 13 38.24 - - - C1orf85 0 genome.wustl.edu 37 1 156263157 156263157 + Missense_Mutation SNP C C T TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 1 156263157 156263157 C T SNP C1orf85 ENST00000362007 human ensembl 69_37n -1 known missense c.1009 p.G337R 0.999 NULL NULL - no_errors C1orf85 HGNC ENSG00000198715 51 0 0.00 59 12 16.67 - - - C3orf62 0 genome.wustl.edu 37 3 49311552 49311552 + Missense_Mutation SNP C C T TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 3 49311552 49311552 C T SNP C3orf62 ENST00000424960 human ensembl 69_37n -1 known missense c.289 p.E97K 1.000 NULL NULL - no_start_codon C3orf62 HGNC ENSG00000188315 56 0 0.00 43 9 17.31 - - - CASC5 0 genome.wustl.edu 37 15 40921499 40921499 + Missense_Mutation SNP G G C TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 15 40921499 40921499 G C SNP CASC5 ENST00000346991 human ensembl 69_37n +1 known missense c.5690 p.R1897T 0.524 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 107 0 0.00 85 35 29.17 - - - CASR 0 genome.wustl.edu 37 3 121980842 121980842 + Silent SNP C C T TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 3 121980842 121980842 C T SNP CASR ENST00000498619 human ensembl 69_37n +1 known silent c.960 p.F320 0.980 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 189 0 0.00 105 31 22.79 - - - CHD4 0 genome.wustl.edu 37 12 6702335 6702335 + Silent SNP G G A TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 12 6702335 6702335 G A SNP CHD4 ENST00000309577 human ensembl 69_37n -1 known silent c.2574 p.D858 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 246 0 0.00 210 79 27.24 - - - CYP11B2 0 genome.wustl.edu 37 8 143994076 143994076 + Missense_Mutation SNP T T A TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 8 143994076 143994076 T A SNP CYP11B2 ENST00000323110 human ensembl 69_37n -1 known missense c.1268 p.Y423F 0.852 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 49 0 0.00 97 13 11.82 - - - DLGAP4 0 genome.wustl.edu 37 20 35060254 35060254 + Missense_Mutation SNP G G A TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 20 35060254 35060254 G A SNP DLGAP4 ENST00000339266 human ensembl 69_37n +1 known missense c.134 p.R45H 1.000 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 36 0 0.00 29 14 31.82 - - - DNAH11 0 genome.wustl.edu 37 7 21805205 21805205 + Missense_Mutation SNP G G A TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 7 21805205 21805205 G A SNP DNAH11 ENST00000328843 human ensembl 69_37n +1 known missense c.9121 p.E3041K 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 48 0 0.00 31 24 43.64 - - - FGFR4 0 genome.wustl.edu 37 5 176522628 176522628 + Missense_Mutation SNP C C T TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 5 176522628 176522628 C T SNP FGFR4 ENST00000511076 human ensembl 69_37n +1 novel missense c.619 p.R207W 0.011 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FGFR4 HGNC ENSG00000160867 28 0 0.00 18 5 21.74 - - - HSPBAP1 0 genome.wustl.edu 37 3 122459670 122459670 + Missense_Mutation SNP G G A TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 3 122459670 122459670 G A SNP HSPBAP1 ENST00000306103 human ensembl 69_37n -1 known missense c.989 p.S330F 0.807 pfam_JmjC_dom,prints_HSPB1-associated_protein_1 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom,prints_HSPB1-associated_protein_1 - no_errors HSPBAP1 HGNC ENSG00000169087 255 0 0.00 195 67 25.48 - - - LAMA1 0 genome.wustl.edu 37 18 7015822 7015822 + Missense_Mutation SNP G G A TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 18 7015822 7015822 G A SNP LAMA1 ENST00000389658 human ensembl 69_37n -1 known missense c.3025 p.P1009S 0.751 pfam_EGF_laminin,smart_EGF-like,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 97 0 0.00 106 24 18.32 - - - LRP6 0 genome.wustl.edu 37 12 12311946 12311946 + Missense_Mutation SNP G G T TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 12 12311946 12311946 G T SNP LRP6 ENST00000261349 human ensembl 69_37n -1 known missense c.2608 p.Q870K 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 139 0 0.00 147 35 19.23 - - - MARCH7 0 genome.wustl.edu 37 2 160605150 160605150 + Missense_Mutation SNP C C T TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 2 160605150 160605150 C T SNP MARCH7 ENST00000259050 human ensembl 69_37n +1 known missense c.1349 p.A450V 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH7 HGNC ENSG00000136536 184 1 0.54 105 41 28.08 - - - MLYCD 0 genome.wustl.edu 37 16 83948559 83948560 + Splice_Site DEL AG AG - TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 16 83948559 83948560 AG - DEL MLYCD ENST00000262430 human ensembl 69_37n +1 known splice_site_del c.949-2_949-1 e5-1 1.000:1.000 - - - no_errors MLYCD HGNC ENSG00000103150 93 0 0.00 78 38 31.93 - - - MTMR11 0 genome.wustl.edu 37 1 149908094 149908094 + Missense_Mutation SNP G G A TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 1 149908094 149908094 G A SNP MTMR11 ENST00000439741 human ensembl 69_37n -1 known missense c.95 p.P32L 0.988 NULL pfam_Myotubularin_assoc,pfam_Myotub-related - no_errors MTMR11 HGNC ENSG00000014914 204 0 0.00 279 109 28.09 - - - MUC16 0 genome.wustl.edu 37 19 9063731 9063731 + Missense_Mutation SNP C C T TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 19 9063731 9063731 C T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.23715 p.M7905I 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 163 1 0.61 161 83 34.02 - - - MUC16 0 genome.wustl.edu 37 19 9065839 9065839 + Missense_Mutation SNP A A C TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 19 9065839 9065839 A C SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.21607 p.S7203A 0.007 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 293 0 0.00 268 139 33.90 - - - MUC5B 0 genome.wustl.edu 37 11 1264973 1264973 + Missense_Mutation SNP C C T TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 11 1264973 1264973 C T SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known missense c.6872 p.P2291L 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 34 0 0.00 31 17 35.42 - - - NBEA 0 genome.wustl.edu 37 13 35733461 35733463 + In_Frame_Del DEL AGT AGT - TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 AGT AGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 13 35733461 35733463 AGT - DEL NBEA ENST00000310336 human ensembl 69_37n +1 known in_frame_del c.3153_3155 p.V1052in_frame_del 1.000:1.000:1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 191 0 0.00 85 24 22.02 - - - NUDT6 0 genome.wustl.edu 37 4 123814333 123814333 + Missense_Mutation SNP C C T TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 4 123814333 123814333 C T SNP NUDT6 ENST00000304430 human ensembl 69_37n -1 known missense c.601 p.E201K 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like - no_errors NUDT6 HGNC ENSG00000170917 166 1 0.60 103 20 16.13 - - - PARP6 0 genome.wustl.edu 37 15 72559136 72559136 + Missense_Mutation SNP C C T TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 15 72559136 72559136 C T SNP PARP6 ENST00000287196 human ensembl 69_37n -1 known missense c.31 p.D11N 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP6 HGNC ENSG00000137817 132 0 0.00 128 35 21.47 - - - PCMTD2 0 genome.wustl.edu 37 20 62891426 62891426 + Silent SNP C C T TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 20 62891426 62891426 C T SNP PCMTD2 ENST00000308824 human ensembl 69_37n +1 known silent c.108 p.I36 0.609 pfam_PCMT pfam_PCMT - no_errors PCMTD2 HGNC ENSG00000203880 101 0 0.00 150 30 16.57 - - - PCSK5 0 genome.wustl.edu 37 9 78772039 78772039 + Missense_Mutation SNP G G A TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 9 78772039 78772039 G A SNP PCSK5 ENST00000545128 human ensembl 69_37n +1 known missense c.1391 p.R464Q 1.000 superfamily_Galactose-bd-like pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EGF-like,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 83 0 0.00 75 31 29.25 - - - PPM1L 0 genome.wustl.edu 37 3 160474474 160474474 + Missense_Mutation SNP C C G TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 3 160474474 160474474 C G SNP PPM1L ENST00000498165 human ensembl 69_37n +1 known missense c.378 p.I126M 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1L HGNC ENSG00000163590 44 0 0.00 20 4 16.67 - - - PREX2 0 genome.wustl.edu 37 8 68965476 68965476 + Missense_Mutation SNP G G A TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 8 68965476 68965476 G A SNP PREX2 ENST00000288368 human ensembl 69_37n +1 known missense c.1088 p.R363Q 1.000 smart_Pleckstrin_homology pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 334 0 0.00 458 67 12.76 - - - SALL4 0 genome.wustl.edu 37 20 50400810 50400810 + Silent SNP G G A TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 20 50400810 50400810 G A SNP SALL4 ENST00000217086 human ensembl 69_37n -1 known silent c.3156 p.V1052 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 52 0 0.00 87 24 21.62 - - - SCN3B 0 genome.wustl.edu 37 11 123513189 123513189 + Missense_Mutation SNP G G A TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 11 123513189 123513189 G A SNP SCN3B ENST00000299333 human ensembl 69_37n -1 known missense c.410 p.T137M 1.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors SCN3B HGNC ENSG00000166257 88 0 0.00 53 26 32.91 - - - SH2D4A 0 genome.wustl.edu 37 8 19231145 19231145 + Missense_Mutation SNP C C T TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 8 19231145 19231145 C T SNP SH2D4A ENST00000265807 human ensembl 69_37n +1 known missense c.1022 p.S341L 0.591 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D4A HGNC ENSG00000104611 115 0 0.00 74 37 33.33 - - - SP1 0 genome.wustl.edu 37 12 53776064 53776064 + Silent SNP T T C TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 12 53776064 53776064 T C SNP SP1 ENST00000327443 human ensembl 69_37n +1 known silent c.333 p.S111 0.909 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC ENSG00000185591 44 0 0.00 37 21 36.21 - - - SPHK2 0 genome.wustl.edu 37 19 49131440 49131440 + Missense_Mutation SNP C C T TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 19 49131440 49131440 C T SNP SPHK2 ENST00000443164 human ensembl 69_37n +1 known missense c.964 p.R322C 0.977 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 14 0 0.00 10 10 47.62 - - - TCHP 0 genome.wustl.edu 37 12 110346447 110346447 + Silent SNP G G A TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 12 110346447 110346447 G A SNP TCHP ENST00000312777 human ensembl 69_37n +1 known silent c.756 p.E252 0.320 NULL NULL - no_errors TCHP HGNC ENSG00000139437 23 0 0.00 25 9 26.47 - - - TMEM131 0 genome.wustl.edu 37 2 98475800 98475802 + In_Frame_Del DEL TGT TGT - TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 2 98475800 98475802 TGT - DEL TMEM131 ENST00000186436 human ensembl 69_37n -1 known in_frame_del c.450_448 p.T150in_frame_del 1.000:1.000:1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 128 0 0.00 138 39 21.91 - - - TP53 0 genome.wustl.edu 37 17 7579311 7579311 + Splice_Site SNP C C T TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 17 7579311 7579311 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known splice_site c.375+1 e3+1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 150 0 0.00 131 76 36.71 - - - UQCRC1 0 genome.wustl.edu 37 3 48641015 48641015 + Missense_Mutation SNP C C G TCGA-A8-A07O-01A-11W-A019-09 TCGA-A8-A07O-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4574b64d-8848-46e4-913e-5d318c1f6162 edde47bb-2b18-4fcf-8c3a-10ea98983e62 3 48641015 48641015 C G SNP UQCRC1 ENST00000203407 human ensembl 69_37n -1 known missense c.688 p.V230L 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors UQCRC1 HGNC ENSG00000010256 24 0 0.00 12 5 27.78 - - -