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 BDKRB1 0 genome.wustl.edu 37 14 96730636 96730636 + Missense_Mutation SNP T T C TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a 14 96730636 96730636 T C SNP BDKRB1 ENST00000216629 human ensembl 69_37n +1 known missense c.617 p.L206S 0.024 pfam_7TM_GPCR_Rhodpsn,prints_BK_rcpt_B1,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_BK_rcpt_B1,prints_7TM_GPCR_Rhodpsn,prints_Brdyknn_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors BDKRB1 HGNC ENSG00000100739 62 0 0.00 51 13 20.31 - - - CACNA1S 0 genome.wustl.edu 37 1 201030401 201030401 + Silent SNP C C T TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a 1 201030401 201030401 C T SNP CACNA1S ENST00000362061 human ensembl 69_37n -1 known silent c.3249 p.K1083 1.000 prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 125 0 0.00 139 55 28.35 - - - CDH3 0 genome.wustl.edu 37 16 68725808 68725808 + Missense_Mutation SNP G G T TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a 16 68725808 68725808 G T SNP CDH3 ENST00000264012 human ensembl 69_37n +1 known missense c.1981 p.G661W 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC ENSG00000062038 38 0 0.00 29 4 12.12 - - - CLTC 0 genome.wustl.edu 37 17 57725727 57725727 + Missense_Mutation SNP T T C TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a 17 57725727 57725727 T C SNP CLTC ENST00000269122 human ensembl 69_37n +1 known missense c.646 p.F216L 1.000 pfam_Clathrin_H-chain_propeller_rpt,superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 106 0 0.00 67 10 12.99 - - - COL4A3 0 genome.wustl.edu 37 2 228141148 228141148 + Nonsense_Mutation SNP G G T TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a 2 228141148 228141148 G T SNP COL4A3 ENST00000396578 human ensembl 69_37n +1 known nonsense c.1975 p.G659* 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 51 0 0.00 27 5 15.62 - - - CRLF1 0 genome.wustl.edu 37 19 18705148 18705148 + Missense_Mutation SNP A A T TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a 19 18705148 18705148 A T SNP CRLF1 ENST00000392386 human ensembl 69_37n -1 known missense c.1121 p.L374H 0.991 NULL pfam_Fibronectin_type3,pfam_Growth/epo_recpt_lig-bind,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF1 HGNC ENSG00000006016 9 0 0.00 19 6 24.00 - - - EIF4ENIF1 0 genome.wustl.edu 37 22 31851272 31851272 + Nonsense_Mutation SNP G G A TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a 22 31851272 31851272 G A SNP EIF4ENIF1 ENST00000330125 human ensembl 69_37n -1 known nonsense c.1129 p.Q377* 1.000 pfam_eIF4E_transporter pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ENSG00000184708 104 0 0.00 60 18 23.08 - - - FBN3 0 genome.wustl.edu 37 19 8131020 8131020 + Missense_Mutation SNP C C T TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a 19 8131020 8131020 C T SNP FBN3 ENST00000270509 human ensembl 69_37n -1 known missense c.8213 p.R2738H 1.000 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 19 0 0.00 16 5 23.81 - - - GATA3 0 genome.wustl.edu 37 10 8111433 8111434 + Splice_Site DEL CA CA - TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a 10 8111433 8111434 CA - DEL GATA3 ENST00000379328 human ensembl 69_37n +1 known splice_site_del c.925-3_925-2 e4-2 1.000:1.000 - - - no_errors GATA3 HGNC ENSG00000107485 57 0 0 58 10 14.29 - - - GUCY1A3 0 genome.wustl.edu 37 4 156629403 156629403 + Silent SNP A A G TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a 4 156629403 156629403 A G SNP GUCY1A3 ENST00000296518 human ensembl 69_37n +1 known silent c.333 p.R111 1.000 pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 38 0 0.00 28 6 17.65 - - - HCN4 0 genome.wustl.edu 37 15 73616120 73616120 + Missense_Mutation SNP C C T TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a 15 73616120 73616120 C T SNP HCN4 ENST00000261917 human ensembl 69_37n -1 known missense c.2314 p.V772I 0.966 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 42 0 0.00 35 6 14.63 - - - HMGCLL1 0 genome.wustl.edu 37 6 55441929 55441929 + Missense_Mutation SNP C C T TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a 6 55441929 55441929 C T SNP HMGCLL1 ENST00000398661 human ensembl 69_37n -1 known missense c.145 p.D49N 0.000 NULL pfam_PYR_CT,pfscan_PYR_CT - no_errors HMGCLL1 HGNC ENSG00000146151 41 0 0.00 24 5 17.24 - - - KIF16B 0 genome.wustl.edu 37 20 16410515 16410515 + Missense_Mutation SNP T T G TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a 20 16410515 16410515 T G SNP KIF16B ENST00000408042 human ensembl 69_37n -1 known missense c.1415 p.H472P 1.000 superfamily_SMAD_FHA_domain pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 74 0 0.00 53 7 11.67 - - - MID1 0 genome.wustl.edu 37 X 10535215 10535215 + Missense_Mutation SNP C C T TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a X 10535215 10535215 C T SNP MID1 ENST00000317552 human ensembl 69_37n -1 known missense c.373 p.D125N 1.000 smart_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID1 HGNC ENSG00000101871 54 0 0.00 47 8 14.55 - - - MUC5B 0 genome.wustl.edu 37 11 1266862 1266862 + Missense_Mutation SNP C C T TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a 11 1266862 1266862 C T SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known missense c.8761 p.R2921C 0.001 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 44 0 0.00 17 5 22.73 - - - NCOR1 0 genome.wustl.edu 37 17 15989687 15989687 + Missense_Mutation SNP G G T TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a 17 15989687 15989687 G T SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known missense c.3086 p.P1029Q 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 151 0 0.00 102 16 13.56 - - - SEC1P 0 genome.wustl.edu 37 19 49183705 49183705 + RNA SNP G G A TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a 19 49183705 49183705 G A SNP SEC1P ENST00000430145 human ensembl 69_37n +1 known rna NULL NULL 0.109 - - - no_errors SEC1P HGNC ENSG00000232871 9 0 0.00 8 6 42.86 - - - TET3 0 genome.wustl.edu 37 2 74273626 74273626 + Silent SNP G G T TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a 2 74273626 74273626 G T SNP TET3 ENST00000409262 human ensembl 69_37n +1 known silent c.177 p.L59 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 49 0 0.00 30 4 11.76 - - - TNS3 0 genome.wustl.edu 37 7 47409188 47409188 + Missense_Mutation SNP C C A TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a 7 47409188 47409188 C A SNP TNS3 ENST00000311160 human ensembl 69_37n -1 known missense c.1055 p.S352I 0.998 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 43 0 0.00 16 10 38.46 - - - TULP2 0 genome.wustl.edu 37 19 49398637 49398637 + Missense_Mutation SNP G G A TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a 19 49398637 49398637 G A SNP TULP2 ENST00000221399 human ensembl 69_37n -1 known missense c.335 p.P112L 0.000 NULL pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP2 HGNC ENSG00000104804 56 0 0.00 63 13 17.11 - - - ZNF479 0 genome.wustl.edu 37 7 57188319 57188319 + Missense_Mutation SNP G G T TCGA-GM-A2DN-01A-11D-A17W-09 TCGA-GM-A2DN-10C-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6101e95-5296-4040-af52-0159a21e63b5 70bb3d92-770c-426e-98c5-35362229d54a 7 57188319 57188319 G T SNP ZNF479 ENST00000331162 human ensembl 69_37n -1 known missense c.803 p.P268H 0.660 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF479 HGNC ENSG00000185177 84 0 0.00 30 5 14.29 - - -