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 AARS 0 genome.wustl.edu 37 16 70293052 70293052 + Missense_Mutation SNP G G A TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 16 70293052 70293052 G A SNP AARS ENST00000261772 human ensembl 69_37n -1 known missense c.1823 p.T608M 1.000 superfamily_Thr/Ala-tRNA-synth_IIc_edit,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-synth_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc - no_errors AARS HGNC ENSG00000090861 162 1 0.61 67 43 39.09 - - - ADPRHL2 0 genome.wustl.edu 37 1 36557572 36557573 + Frame_Shift_Ins INS - - A TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 1 36557572 36557573 - A INS ADPRHL2 ENST00000373178 human ensembl 69_37n +1 known frame_shift_ins c.578_579 p.Q194fs 1.000:1.000 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 - no_errors ADPRHL2 HGNC ENSG00000116863 141 0 0.00 74 33 30.84 - - - BNC1 0 genome.wustl.edu 37 15 83926358 83926358 + Missense_Mutation SNP C C T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 15 83926358 83926358 C T SNP BNC1 ENST00000345382 human ensembl 69_37n -1 known missense c.2821 p.G941R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 165 0 0.00 115 43 27.22 - - - CACNA1E 0 genome.wustl.edu 37 1 181689373 181689373 + Missense_Mutation SNP T T C TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 1 181689373 181689373 T C SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known missense c.1783 p.S595P 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 398 0 0.00 371 113 23.25 - - - CADM3 0 genome.wustl.edu 37 1 159170670 159170670 + Silent SNP C C T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 1 159170670 159170670 C T SNP CADM3 ENST00000368124 human ensembl 69_37n +1 known silent c.1257 p.G419 1.000 NULL pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM3 HGNC ENSG00000162706 134 0 0.00 115 26 18.31 - - - CD83 0 genome.wustl.edu 37 6 14118244 14118244 + Missense_Mutation SNP C C T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 6 14118244 14118244 C T SNP CD83 ENST00000379153 human ensembl 69_37n +1 known missense c.101 p.P34L 0.993 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors CD83 HGNC ENSG00000112149 85 0 0.00 43 9 16.98 - - - F2R 0 genome.wustl.edu 37 5 76028303 76028303 + Missense_Mutation SNP C C A TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 5 76028303 76028303 C A SNP F2R ENST00000319211 human ensembl 69_37n +1 known missense c.253 p.P85T 0.000 NULL pfam_7TM_GPCR_Rhodpsn,prints_Thrmbn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors F2R HGNC ENSG00000181104 177 0 0.00 100 58 36.71 - - - FAM102A 0 genome.wustl.edu 37 9 130716172 130716172 + Missense_Mutation SNP C C A TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 9 130716172 130716172 C A SNP FAM102A ENST00000373095 human ensembl 69_37n -1 known missense c.179 p.R60L 1.000 pfam_NT-C2 pfam_NT-C2 - no_errors FAM102A HGNC ENSG00000167106 63 0 0.00 31 12 27.91 - - - FAM9B 0 genome.wustl.edu 37 X 8997417 8997417 + Silent SNP G G A TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb X 8997417 8997417 G A SNP FAM9B ENST00000327220 human ensembl 69_37n -1 known silent c.324 p.V108 0.001 pfam_Cor1/Xlr/Xmr pfam_Cor1/Xlr/Xmr - no_errors FAM9B HGNC ENSG00000177138 478 1 0.21 262 120 31.41 - - - FLYWCH1 0 genome.wustl.edu 37 16 2987149 2987150 + Frame_Shift_Ins INS - - G TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 16 2987149 2987150 - G INS FLYWCH1 ENST00000399667 human ensembl 69_37n +1 known frame_shift_ins c.1688_1689 p.S566fs 0.922:0.924 pfam_Znf_FLYWCH pfam_Znf_FLYWCH - no_errors FLYWCH1 HGNC ENSG00000059122 28 0 0.00 10 2 16.67 - - - GPC5 0 genome.wustl.edu 37 13 92345580 92345580 + Silent SNP G G A TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 13 92345580 92345580 G A SNP GPC5 ENST00000377067 human ensembl 69_37n +1 known silent c.465 p.A155 0.055 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 329 0 0.00 123 72 36.73 - - - GPR128 0 genome.wustl.edu 37 3 100373700 100373700 + Silent SNP A A C TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 3 100373700 100373700 A C SNP GPR128 ENST00000273352 human ensembl 69_37n +1 known silent c.1401 p.V467 0.967 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR128 HGNC ENSG00000144820 236 0 0.00 183 67 26.80 - - - HCFC2 0 genome.wustl.edu 37 12 104487163 104487163 + Splice_Site SNP G G A TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 12 104487163 104487163 G A SNP HCFC2 ENST00000229330 human ensembl 69_37n +1 known splice_site c.1285-1 e10-1 0.859 - - - no_errors HCFC2 HGNC ENSG00000111727 151 0 0.00 104 16 13.22 - - - HMCN1 0 genome.wustl.edu 37 1 185902884 185902884 + Missense_Mutation SNP G G T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 1 185902884 185902884 G T SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.1756 p.A586S 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 156 0 0.00 160 38 19.19 - - - HRNR 0 genome.wustl.edu 37 1 152188994 152188994 + Missense_Mutation SNP C C T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 1 152188994 152188994 C T SNP HRNR ENST00000368801 human ensembl 69_37n -1 known missense c.5111 p.R1704Q 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 34 0 0.00 12 3 20.00 - - - HSPD1 0 genome.wustl.edu 37 2 198363534 198363534 + Silent SNP C C T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 2 198363534 198363534 C T SNP HSPD1 ENST00000345042 human ensembl 69_37n -1 known silent c.39 p.P13 0.844 NULL pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60 - no_errors HSPD1 HGNC ENSG00000144381 49 0 0.00 39 7 15.22 - - - KLHL20 0 genome.wustl.edu 37 1 173703245 173703245 + Missense_Mutation SNP G G T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 1 173703245 173703245 G T SNP KLHL20 ENST00000209884 human ensembl 69_37n +1 known missense c.417 p.Q139H 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL20 HGNC ENSG00000076321 219 0 0.00 149 51 25.50 - - - KLHL34 0 genome.wustl.edu 37 X 21675045 21675046 + Frame_Shift_Ins INS - - C TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb X 21675045 21675046 - C INS KLHL34 ENST00000379499 human ensembl 69_37n -1 known frame_shift_ins c.862_861 p.R287fs 0.005:0.005 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL34 HGNC ENSG00000185915 13 0 0.00 3 2 40.00 - - - LRP1 0 genome.wustl.edu 37 12 57579378 57579379 + Frame_Shift_Ins INS - - A TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 12 57579378 57579379 - A INS LRP1 ENST00000243077 human ensembl 69_37n +1 known frame_shift_ins c.6528_6529 p.Q2176fs 0.882:0.965 smart_EGF-like 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 31 0 0.00 10 5 33.33 - - - LRP4 0 genome.wustl.edu 37 11 46894758 46894758 + Silent SNP G G A TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 11 46894758 46894758 G A SNP LRP4 ENST00000378623 human ensembl 69_37n -1 known silent c.4476 p.H1492 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP4 HGNC ENSG00000134569 124 0 0.00 97 27 21.77 - - - LRRTM1 0 genome.wustl.edu 37 2 80530339 80530340 + Frame_Shift_Ins INS - - T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 2 80530339 80530340 - T INS LRRTM1 ENST00000295057 human ensembl 69_37n -1 known frame_shift_ins c.606_605 p.N203fs 1.000:1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 81 0 0.00 46 57 55.34 - - - MAP3K8 0 genome.wustl.edu 37 10 30747137 30747138 + Frame_Shift_Ins INS - - C TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 10 30747137 30747138 - C INS MAP3K8 ENST00000263056 human ensembl 69_37n +1 known frame_shift_ins c.998_999 p.S334fs 1.000:0.982 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 MAP3K8 HGNC ENSG00000107968 80 0 0.00 45 11 19.64 - - - MRC2 0 genome.wustl.edu 37 17 60743534 60743534 + Silent SNP C C T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 17 60743534 60743534 C T SNP MRC2 ENST00000303375 human ensembl 69_37n +1 known silent c.600 p.G200 0.998 pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,prints_AntifreezeII,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors MRC2 HGNC ENSG00000011028 45 0 0.00 18 13 41.94 - - - MUC4 0 genome.wustl.edu 37 3 195510990 195510990 + Silent SNP C C T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 3 195510990 195510990 C T SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known silent c.7461 p.S2487 0.007 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 38 0 0.00 38 10 17.54 - - - NAV1 0 genome.wustl.edu 37 1 201755667 201755667 + Missense_Mutation SNP C C T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 1 201755667 201755667 C T SNP NAV1 ENST00000367296 human ensembl 69_37n +1 known missense c.2957 p.P986L 1.000 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 408 1 0.24 338 47 12.18 - - - NUP133 0 genome.wustl.edu 37 1 229619833 229619833 + Silent SNP C C T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 1 229619833 229619833 C T SNP NUP133 ENST00000261396 human ensembl 69_37n -1 known silent c.1560 p.K520 0.104 NULL pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC ENSG00000069248 588 0 0.00 415 116 21.76 - - - OR10H5 0 genome.wustl.edu 37 19 15905356 15905356 + Silent SNP C C T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 19 15905356 15905356 C T SNP OR10H5 ENST00000308940 human ensembl 69_37n +1 known silent c.498 p.L166 0.342 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR10H5 HGNC ENSG00000172519 369 0 0.00 302 124 28.97 - - - PCDHGA9 0 genome.wustl.edu 37 5 140783298 140783298 + Frame_Shift_Del DEL G G - TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 5 140783298 140783298 G - DEL PCDHGA9 ENST00000573521 human ensembl 69_37n +1 known frame_shift_del c.779 p.W260fs 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 32 0 0.00 25 7 21.88 - - - PET112 0 genome.wustl.edu 37 4 152679994 152679994 + Missense_Mutation SNP T T G TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 4 152679994 152679994 T G SNP PET112 ENST00000263985 human ensembl 69_37n -1 known missense c.257 p.Q86P 1.000 pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Gln-tRNA_amidoTrfase_bsu pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Gln-tRNA_amidoTrfase_bsu - no_errors PET112 HGNC ENSG00000059691 201 0 0.00 151 68 31.05 - - - PI4KB 0 genome.wustl.edu 37 1 151266606 151266606 + Missense_Mutation SNP G G A TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 1 151266606 151266606 G A SNP PI4KB ENST00000446339 human ensembl 69_37n -1 putative missense c.74 p.A25V 0.014 superfamily_Kinase-like_dom superfamily_Kinase-like_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PI4KB HGNC ENSG00000143393 96 0 0.00 80 24 22.86 - - - PTCD3 0 genome.wustl.edu 37 2 86344259 86344259 + Missense_Mutation SNP G G A TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 2 86344259 86344259 G A SNP PTCD3 ENST00000254630 human ensembl 69_37n +1 known missense c.391 p.D131N 1.000 NULL NULL - no_errors PTCD3 HGNC ENSG00000132300 188 0 0.00 118 59 33.33 - - - RABEP1 0 genome.wustl.edu 37 17 5238487 5238487 + Missense_Mutation SNP C C T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 17 5238487 5238487 C T SNP RABEP1 ENST00000262477 human ensembl 69_37n +1 known missense c.376 p.R126C 1.000 pfam_Rabaptin_coiled-coil pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP1 HGNC ENSG00000029725 153 0 0.00 53 39 42.39 - - - RYR1 0 genome.wustl.edu 37 19 38946102 38946102 + Missense_Mutation SNP C C T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 19 38946102 38946102 C T SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known missense c.1588 p.R530C 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 1048 0 0.00 691 293 29.66 - - - SLC9A8 0 genome.wustl.edu 37 20 48431650 48431650 + Silent SNP C C T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 20 48431650 48431650 C T SNP SLC9A8 ENST00000417961 human ensembl 69_37n +1 known silent c.132 p.P44 0.000 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 148 0 0.00 78 49 37.98 - - - SORT1 0 genome.wustl.edu 37 1 109888491 109888491 + Missense_Mutation SNP C C T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 1 109888491 109888491 C T SNP SORT1 ENST00000256637 human ensembl 69_37n -1 known missense c.845 p.G282E 1.000 smart_VPS10 pfam_BNR_rpt,smart_VPS10 - no_errors SORT1 HGNC ENSG00000134243 168 0 0.00 121 15 11.03 - - - TCF25 0 genome.wustl.edu 37 16 89964995 89964995 + Frame_Shift_Del DEL G G - TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 16 89964995 89964995 G - DEL TCF25 ENST00000263346 human ensembl 69_37n +1 known frame_shift_del c.1053 p.M351fs 1.000 pfam_TCF25 pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 13 0 0.00 15 15 50.00 - - - TMEM57 0 genome.wustl.edu 37 1 25824793 25824793 + Missense_Mutation SNP A A G TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 1 25824793 25824793 A G SNP TMEM57 ENST00000374343 human ensembl 69_37n +1 known missense c.1831 p.K611E 0.997 pfam_Macoilin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 207 0 0.00 94 58 38.16 - - - TP53 0 genome.wustl.edu 37 17 7577144 7577144 + Missense_Mutation SNP A A C TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 17 7577144 7577144 A C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.794 p.L265R 1.000 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 234 0 0.00 104 59 36.20 - - - TPTE2 0 genome.wustl.edu 37 13 20041461 20041461 + Missense_Mutation SNP A A G TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 13 20041461 20041461 A G SNP TPTE2 ENST00000382977 human ensembl 69_37n -1 known missense c.416 p.L139S 0.000 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 120 0 0.00 40 20 33.33 - - - TRERF1 0 genome.wustl.edu 37 6 42222647 42222647 + Silent SNP C C T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 6 42222647 42222647 C T SNP TRERF1 ENST00000541110 human ensembl 69_37n -1 known silent c.2658 p.L886 1.000 pfscan_ELM2_dom pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 46 0 0.00 63 16 20.25 - - - TTC23L 0 genome.wustl.edu 37 5 34867065 34867065 + Missense_Mutation SNP T T A TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 5 34867065 34867065 T A SNP TTC23L ENST00000505624 human ensembl 69_37n +1 known missense c.731 p.I244N 0.148 NULL NULL - no_errors TTC23L HGNC ENSG00000205838 187 0 0.00 115 52 31.14 - - - URI1 0 genome.wustl.edu 37 19 30500053 30500053 + Missense_Mutation SNP A A T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 19 30500053 30500053 A T SNP URI1 ENST00000542441 human ensembl 69_37n +1 known missense c.828 p.E276D 0.896 NULL pfam_Prefoldin_subunit,superfamily_Prefoldin - no_errors URI1 HGNC ENSG00000105176 201 0 0.00 124 38 23.31 - - - ZFP106 0 genome.wustl.edu 37 15 42743536 42743536 + Missense_Mutation SNP C C T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 15 42743536 42743536 C T SNP ZFP106 ENST00000263805 human ensembl 69_37n -1 known missense c.865 p.G289S 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZFP106 HGNC ENSG00000103994 302 0 0.00 366 54 12.86 - - - ZNF200 0 genome.wustl.edu 37 16 3274067 3274067 + Missense_Mutation SNP C C T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6d2dc4e3-f1ed-4ef0-ae83-e09c87756d56 26a53735-9790-4d97-88e9-1c2bf24eb6cb 16 3274067 3274067 C T SNP ZNF200 ENST00000414144 human ensembl 69_37n -1 known missense c.1013 p.C338Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF200 HGNC ENSG00000010539 80 0 0.00 56 28 33.33 - - -