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 ACTR3B 0 genome.wustl.edu 37 7 152513624 152513624 + Missense_Mutation SNP C C T TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 7 152513624 152513624 C T SNP ACTR3B ENST00000256001 human ensembl 69_37n +1 known missense c.491 p.T164M 0.990 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR3B HGNC ENSG00000133627 169 0 0.00 178 50 21.93 - - - AGBL1 0 genome.wustl.edu 37 15 86838639 86838639 + Nonsense_Mutation SNP C C T TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 15 86838639 86838639 C T SNP AGBL1 ENST00000441037 human ensembl 69_37n +1 known nonsense c.2236 p.R746* 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 151 0 0.00 60 49 44.95 - - - API5 0 genome.wustl.edu 37 11 43340343 43340343 + Missense_Mutation SNP G G C TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 11 43340343 43340343 G C SNP API5 ENST00000531273 human ensembl 69_37n +1 known missense c.223 p.D75H 1.000 pfam_API5,superfamily_ARM-type_fold pfam_API5,superfamily_ARM-type_fold - no_errors API5 HGNC ENSG00000166181 147 0 0.00 106 108 50.47 - - - ASAP3 0 genome.wustl.edu 37 1 23759634 23759634 + Silent SNP C C A TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 1 23759634 23759634 C A SNP ASAP3 ENST00000336689 human ensembl 69_37n -1 known silent c.2259 p.P753 0.860 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_ArfGAP,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,prints_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 83 0 0.00 22 15 40.54 - - - ATP11C 0 genome.wustl.edu 37 X 138901509 138901509 + Silent SNP G G A TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f X 138901509 138901509 G A SNP ATP11C ENST00000327569 human ensembl 69_37n -1 known silent c.234 p.I78 1.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11C HGNC ENSG00000101974 93 0 0.00 103 31 23.13 - - - BEGAIN 0 genome.wustl.edu 37 14 101005271 101005273 + In_Frame_Del DEL CCT CCT - TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 14 101005271 101005273 CCT - DEL BEGAIN ENST00000355173 human ensembl 69_37n -1 known in_frame_del c.817_815 p.E272in_frame_del 0.781:0.856:0.982 NULL superfamily_Prefoldin - no_errors BEGAIN HGNC ENSG00000183092 20 0 0.00 4 2 33.33 - - - C6orf165 0 genome.wustl.edu 37 6 88125281 88125281 + Missense_Mutation SNP C C T TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 6 88125281 88125281 C T SNP C6orf165 ENST00000489338 human ensembl 69_37n +1 known missense c.284 p.A95V 0.000 NULL NULL - no_errors C6orf165 HGNC ENSG00000213204 32 0 0.00 14 4 22.22 - - - CACNA1F 0 genome.wustl.edu 37 X 49071852 49071852 + Missense_Mutation SNP G G A TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f X 49071852 49071852 G A SNP CACNA1F ENST00000376265 human ensembl 69_37n -1 known missense c.3421 p.R1141C 1.000 prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 1131 0 0.00 247 187 43.09 - - - CASC5 0 genome.wustl.edu 37 15 40947129 40947129 + Missense_Mutation SNP G G C TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 15 40947129 40947129 G C SNP CASC5 ENST00000346991 human ensembl 69_37n +1 known missense c.6516 p.K2172N 0.033 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 106 1 0.93 60 35 36.84 - - - CCDC33 0 genome.wustl.edu 37 15 74588246 74588246 + Missense_Mutation SNP A A G TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 15 74588246 74588246 A G SNP CCDC33 ENST00000321288 human ensembl 69_37n +1 known missense c.1856 p.E619G 0.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CCDC33 HGNC ENSG00000140481 275 0 0.00 119 28 19.05 - - - CDC37 0 genome.wustl.edu 37 19 10514100 10514100 + Missense_Mutation SNP G G A TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 19 10514100 10514100 G A SNP CDC37 ENST00000222005 human ensembl 69_37n -1 known missense c.56 p.T19M 1.000 pfam_Cdc37_N_dom pfam_Cdc37_Hsp90-bd,pfam_Cdc37_N_dom,pfam_Cdc37_C - no_errors CDC37 HGNC ENSG00000105401 158 0 0.00 65 19 22.62 - - - CNN3 0 genome.wustl.edu 37 1 95368739 95368739 + Missense_Mutation SNP A A C TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 1 95368739 95368739 A C SNP CNN3 ENST00000370206 human ensembl 69_37n -1 known missense c.185 p.I62R 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_SM22_calponin,prints_Calponin pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN3 HGNC ENSG00000117519 206 0 0.00 197 65 24.81 - - - CNTNAP5 0 genome.wustl.edu 37 2 125555837 125555837 + Missense_Mutation SNP C C A TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 2 125555837 125555837 C A SNP CNTNAP5 ENST00000431078 human ensembl 69_37n +1 known missense c.3154 p.L1052I 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 264 0 0.00 204 102 33.33 - - - CPAMD8 0 genome.wustl.edu 37 19 17039789 17039789 + Missense_Mutation SNP C C G TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 19 17039789 17039789 C G SNP CPAMD8 ENST00000291440 human ensembl 69_37n -1 known missense c.3248 p.R1083T 1.000 pfam_Methyltransf_FA pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_errors CPAMD8 HGNC ENSG00000160111 63 0 0.00 52 17 24.64 - - - CYP4F30P 0 genome.wustl.edu 37 2 131439076 131439076 + RNA SNP C C T TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 2 131439076 131439076 C T SNP CYP4F30P ENST00000397485 human ensembl 69_37n +1 known rna NULL NULL 0.178 - - - no_errors CYP4F30P HGNC ENSG00000214081 20 0 0.00 7 5 41.67 - - - DCC 0 genome.wustl.edu 37 18 50450136 50450136 + Nonsense_Mutation SNP G G T TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 18 50450136 50450136 G T SNP DCC ENST00000442544 human ensembl 69_37n +1 known nonsense c.757 p.E253* 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC ENSG00000187323 121 0 0.00 157 101 39.15 - - - DKK3 0 genome.wustl.edu 37 11 12020297 12020297 + Silent SNP G G C TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 11 12020297 12020297 G C SNP DKK3 ENST00000326932 human ensembl 69_37n -1 known silent c.381 p.V127 0.840 NULL pfam_Dickkopf_N - no_errors DKK3 HGNC ENSG00000050165 203 0 0.00 111 627 84.84 - - - DNAH6 0 genome.wustl.edu 37 2 84949763 84949763 + Silent SNP C C A TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 2 84949763 84949763 C A SNP DNAH6 ENST00000237449 human ensembl 69_37n +1 known silent c.9807 p.A3269 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 162 0 0.00 140 72 33.96 - - - DPF1 0 genome.wustl.edu 37 19 38708105 38708105 + Missense_Mutation SNP T T G TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 19 38708105 38708105 T G SNP DPF1 ENST00000355526 human ensembl 69_37n -1 known missense c.803 p.H268P 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF1 HGNC ENSG00000011332 107 0 0.00 32 17 34.69 - - - ENOX1 0 genome.wustl.edu 37 13 43930276 43930276 + Missense_Mutation SNP C C T TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 13 43930276 43930276 C T SNP ENOX1 ENST00000261488 human ensembl 69_37n -1 known missense c.602 p.R201Q 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 50 0 0.00 27 14 34.15 - - - FAM101B 0 genome.wustl.edu 37 17 293240 293240 + Silent SNP G G A TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 17 293240 293240 G A SNP FAM101B ENST00000329099 human ensembl 69_37n -1 known silent c.150 p.D50 0.896 NULL NULL - no_start_codon FAM101B HGNC ENSG00000183688 43 0 0.00 15 11 42.31 - - - GMFG 0 genome.wustl.edu 37 19 39826138 39826138 + Missense_Mutation SNP C C G TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 19 39826138 39826138 C G SNP GMFG ENST00000253054 human ensembl 69_37n -1 known missense c.37 p.E13Q 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta - no_errors GMFG HGNC ENSG00000130755 228 0 0.00 125 41 24.55 - - - GREB1L 0 genome.wustl.edu 37 18 19020328 19020328 + Missense_Mutation SNP G G A TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 18 19020328 19020328 G A SNP GREB1L ENST00000424526 human ensembl 69_37n +1 known missense c.1048 p.V350I 1.000 NULL NULL - no_errors GREB1L HGNC ENSG00000141449 607 1 0.16 484 283 36.85 - - - HIST1H4G 0 genome.wustl.edu 37 6 26247074 26247074 + Silent SNP G G C TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 6 26247074 26247074 G C SNP HIST1H4G ENST00000244537 human ensembl 69_37n -1 known silent c.132 p.V44 0.999 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4 - no_errors HIST1H4G HGNC ENSG00000124578 67 0 0.00 38 23 37.70 - - - IFNAR1 0 genome.wustl.edu 37 21 34715607 34715607 + Missense_Mutation SNP C C T TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 21 34715607 34715607 C T SNP IFNAR1 ENST00000270139 human ensembl 69_37n +1 known missense c.410 p.A137V 1.000 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 - no_errors IFNAR1 HGNC ENSG00000142166 318 0 0.00 252 120 32.26 - - - IGF2BP1 0 genome.wustl.edu 37 17 47117353 47117353 + Missense_Mutation SNP G G A TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 17 47117353 47117353 G A SNP IGF2BP1 ENST00000290341 human ensembl 69_37n +1 known missense c.718 p.A240T 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC ENSG00000159217 219 0 0.00 86 63 42.00 - - - KCTD21 0 genome.wustl.edu 37 11 77884970 77884970 + Missense_Mutation SNP C C A TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 11 77884970 77884970 C A SNP KCTD21 ENST00000340067 human ensembl 69_37n -1 known missense c.631 p.V211L 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD21 HGNC ENSG00000188997 315 0 0.00 410 70 14.58 - - - KIAA0947 0 genome.wustl.edu 37 5 5463316 5463316 + Missense_Mutation SNP T T G TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 5 5463316 5463316 T G SNP KIAA0947 ENST00000296564 human ensembl 69_37n +1 known missense c.3869 p.V1290G 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 104 0 0.00 91 42 31.34 - - - KIF27 0 genome.wustl.edu 37 9 86503485 86503485 + Missense_Mutation SNP G G C TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 9 86503485 86503485 G C SNP KIF27 ENST00000297814 human ensembl 69_37n -1 known missense c.2002 p.Q668E 0.993 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 86 0 0.00 132 27 16.98 - - - LRP1 0 genome.wustl.edu 37 12 57567573 57567573 + Silent SNP C C A TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 12 57567573 57567573 C A SNP LRP1 ENST00000243077 human ensembl 69_37n +1 known silent c.3357 p.I1119 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 198 0 0.00 42 22 34.38 - - - LZTR1 0 genome.wustl.edu 37 22 21342406 21342406 + Missense_Mutation SNP C C T TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 22 21342406 21342406 C T SNP LZTR1 ENST00000215739 human ensembl 69_37n +1 known missense c.508 p.R170W 0.814 smart_Kelch_1 pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 101 0 0.00 21 5 19.23 - - - MARK2 0 genome.wustl.edu 37 11 63669754 63669754 + Nonsense_Mutation SNP C C T TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 11 63669754 63669754 C T SNP MARK2 ENST00000402010 human ensembl 69_37n +1 known nonsense c.1186 p.Q396* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 314 0 0.00 120 62 34.07 - - - MIB1 0 genome.wustl.edu 37 18 19426998 19426998 + Nonsense_Mutation SNP C C T TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 18 19426998 19426998 C T SNP MIB1 ENST00000261537 human ensembl 69_37n +1 known nonsense c.2305 p.R769* 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ - no_errors MIB1 HGNC ENSG00000101752 77 0 0.00 71 38 34.55 - - - MRPS7 0 genome.wustl.edu 37 17 73261843 73261843 + Missense_Mutation SNP G G C TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 17 73261843 73261843 G C SNP MRPS7 ENST00000245539 human ensembl 69_37n +1 known missense c.568 p.E190Q 1.000 pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom - no_errors MRPS7 HGNC ENSG00000125445 102 0 0.00 38 5 11.63 - - - MYO10 0 genome.wustl.edu 37 5 16671048 16671048 + Missense_Mutation SNP C C G TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 5 16671048 16671048 C G SNP MYO10 ENST00000513610 human ensembl 69_37n -1 known missense c.5470 p.E1824Q 0.996 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 105 0 0.00 57 17 22.97 - - - NMRAL1 0 genome.wustl.edu 37 16 4511847 4511847 + Silent SNP G G C TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 16 4511847 4511847 G C SNP NMRAL1 ENST00000283429 human ensembl 69_37n -1 known silent c.834 p.L278 1.000 NULL pfam_NmrA,pfam_DH_sc/Rdtase_SDR,pfam_RCK_N - no_errors NMRAL1 HGNC ENSG00000153406 132 0 0.00 49 15 23.44 - - - PPP1R17 0 genome.wustl.edu 37 7 31735126 31735126 + Missense_Mutation SNP G G C TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 7 31735126 31735126 G C SNP PPP1R17 ENST00000342032 human ensembl 69_37n +1 known missense c.126 p.K42N 1.000 NULL NULL - no_errors PPP1R17 HGNC ENSG00000106341 345 0 0.00 279 99 26.19 - - - PRB2 0 genome.wustl.edu 37 12 11546633 11546633 + Missense_Mutation SNP T T A TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 12 11546633 11546633 T A SNP PRB2 ENST00000389362 human ensembl 69_37n -1 known missense c.379 p.N127Y 0.000 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 921 0 0.00 1703 303 15.09 - - - PRICKLE3 0 genome.wustl.edu 37 X 49032267 49032267 + Missense_Mutation SNP C C T TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f X 49032267 49032267 C T SNP PRICKLE3 ENST00000376317 human ensembl 69_37n -1 known missense c.1603 p.D535N 0.142 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC ENSG00000012211 223 0 0.00 66 50 43.10 - - - PRKD1 0 genome.wustl.edu 37 14 30107713 30107713 + Nonsense_Mutation SNP C C A TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 14 30107713 30107713 C A SNP PRKD1 ENST00000331968 human ensembl 69_37n -1 known nonsense c.967 p.E323* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 216 0 0.00 194 43 18.07 - - - R3HDML 0 genome.wustl.edu 37 20 42966018 42966018 + Missense_Mutation SNP G G A TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 20 42966018 42966018 G A SNP R3HDML ENST00000217043 human ensembl 69_37n +1 known missense c.221 p.R74Q 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors R3HDML HGNC ENSG00000101074 66 0 0.00 22 10 30.30 - - - RARG 0 genome.wustl.edu 37 12 53607025 53607025 + Missense_Mutation SNP G G A TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 12 53607025 53607025 G A SNP RARG ENST00000394426 human ensembl 69_37n -1 known missense c.1021 p.R341C 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARG HGNC ENSG00000172819 133 0 0.00 32 29 47.54 - - - RNASEH2A 0 genome.wustl.edu 37 19 12923995 12923995 + Missense_Mutation SNP G G A TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 19 12923995 12923995 G A SNP RNASEH2A ENST00000221486 human ensembl 69_37n +1 known missense c.736 p.E246K 1.000 superfamily_RNaseH-like_dom pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA - no_errors RNASEH2A HGNC ENSG00000104889 452 0 0.00 153 29 15.93 - - - RTDR1 0 genome.wustl.edu 37 22 23401684 23401684 + Missense_Mutation SNP G G A TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 22 23401684 23401684 G A SNP RTDR1 ENST00000216036 human ensembl 69_37n -1 known missense c.1003 p.R335W 0.004 superfamily_ARM-type_fold pfam_HEAT,pfam_Armadillo,superfamily_ARM-type_fold - no_errors RTDR1 HGNC ENSG00000100218 113 0 0.00 81 30 27.03 - - - SERBP1 0 genome.wustl.edu 37 1 67895731 67895732 + Frame_Shift_Ins INS - - G TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 1 67895731 67895732 - G INS SERBP1 ENST00000370995 human ensembl 69_37n -1 known frame_shift_ins c.253_252 p.S84fs 0.614:0.912 NULL pfam_HABP4_PAIRBP1-bd - no_errors SERBP1 HGNC ENSG00000142864 28 0 0.00 28 4 12.50 - - - SF3B1 0 genome.wustl.edu 37 2 198267459 198267459 + Missense_Mutation SNP G G A TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 2 198267459 198267459 G A SNP SF3B1 ENST00000335508 human ensembl 69_37n -1 known missense c.1898 p.A633V 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 111 0 0.00 43 51 54.26 - - - SLC25A18 0 genome.wustl.edu 37 22 18069986 18069986 + Missense_Mutation SNP C C G TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 22 18069986 18069986 C G SNP SLC25A18 ENST00000327451 human ensembl 69_37n +1 known missense c.494 p.S165C 0.996 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A18 HGNC ENSG00000182902 140 0 0.00 39 30 43.48 - - - SLC8A3 0 genome.wustl.edu 37 14 70515731 70515731 + Silent SNP C C A TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 14 70515731 70515731 C A SNP SLC8A3 ENST00000381269 human ensembl 69_37n -1 known silent c.2160 p.G720 0.151 tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 218 0 0.00 57 55 49.11 - - - SMARCA2 0 genome.wustl.edu 37 9 2076304 2076304 + Missense_Mutation SNP G G C TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 9 2076304 2076304 G C SNP SMARCA2 ENST00000349721 human ensembl 69_37n +1 known missense c.2011 p.E671Q 0.999 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 481 0 0.00 528 402 43.18 - - - SMYD3 0 genome.wustl.edu 37 1 246091315 246091315 + Missense_Mutation SNP C C A TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 1 246091315 246091315 C A SNP SMYD3 ENST00000388985 human ensembl 69_37n -1 known missense c.620 p.S207I 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD3 HGNC ENSG00000185420 128 0 0.00 151 19 11.11 - - - ZNF425 0 genome.wustl.edu 37 7 148801933 148801933 + Missense_Mutation SNP C C G TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a9cae7c8-a62b-46ad-a98b-82e6b5fddf00 541dbb6d-4173-4885-9387-b9607b1ed40f 7 148801933 148801933 C G SNP ZNF425 ENST00000378061 human ensembl 69_37n -1 known missense c.1030 p.G344R 0.001 smart_Znf_C2H2-like,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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 60 0 0.00 33 16 32.65 - - -