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 ACTN4 0 genome.wustl.edu 37 19 39216514 39216514 + Missense_Mutation SNP G G T TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 19 39216514 39216514 G T SNP ACTN4 ENST00000252699 human ensembl 69_37n +1 known missense c.2161 p.D721Y 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN4 HGNC ENSG00000130402 93 0 0.00 102 24 19.05 - - - ATXN1 0 genome.wustl.edu 37 6 16327907 16327909 + In_Frame_Del DEL TGA TGA - TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 TGA TGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 6 16327907 16327909 TGA - DEL ATXN1 ENST00000244769 human ensembl 69_37n -1 known in_frame_del c.635_633 p.H211in_frame_del 0.024:0.024:0.024 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 9 0 0.00 16 7 30.43 - - - DIP2B 0 genome.wustl.edu 37 12 51128870 51128870 + Missense_Mutation SNP A A G TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 12 51128870 51128870 A G SNP DIP2B ENST00000301180 human ensembl 69_37n +1 known missense c.4058 p.E1353G 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 372 0 0.00 183 96 34.41 - - - DIS3 0 genome.wustl.edu 37 13 73349502 73349502 + Silent SNP C C T TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 13 73349502 73349502 C T SNP DIS3 ENST00000377767 human ensembl 69_37n -1 known silent c.834 p.Q278 1.000 NULL pfam_RNase_II/R,smart_PINc_nuc-bd,smart_RNase_II/R - no_errors DIS3 HGNC ENSG00000083520 251 0 0.00 105 85 44.74 - - - ESR1 0 genome.wustl.edu 37 6 152129128 152129131 + Frame_Shift_Del DEL CCGT CCGT - TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 CCGT CCGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 6 152129128 152129131 CCGT - DEL ESR1 ENST00000206249 human ensembl 69_37n +1 known frame_shift_del c.81_84 p.P29fs 0.656:0.976:0.987:0.995 prints_Oestr_rcpt pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR1 HGNC ENSG00000091831 25 0 0.00 16 7 29.17 - - - FAM22D 0 genome.wustl.edu 37 10 89124862 89124862 + Missense_Mutation SNP G G A TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 10 89124862 89124862 G A SNP FAM22D ENST00000381697 human ensembl 69_37n +1 known missense c.1420 p.E474K 0.000 NULL NULL - no_errors FAM22D HGNC ENSG00000214562 17 0 0.00 9 6 40.00 - - - GATA3 0 genome.wustl.edu 37 10 8115922 8115923 + Frame_Shift_Ins INS - - C TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 10 8115922 8115923 - C INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1271_1272 p.P426fs 1.000:1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 111 0 0.00 87 38 30.40 - - - GDPD1 0 genome.wustl.edu 37 17 57326133 57326133 + Silent SNP C C T TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 17 57326133 57326133 C T SNP GDPD1 ENST00000284116 human ensembl 69_37n +1 known silent c.354 p.V118 0.997 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD1 HGNC ENSG00000153982 685 2 0.29 423 69 14.02 - - - HLA-A 0 genome.wustl.edu 37 6 29911272 29911272 + Missense_Mutation SNP T T G TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 6 29911272 29911272 T G SNP HLA-A ENST00000376806 human ensembl 69_37n +1 known missense c.571 p.W191G 0.126 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 9 0 0.00 13 4 23.53 - - - LTBP4 0 genome.wustl.edu 37 19 41125311 41125311 + Nonsense_Mutation SNP G G T TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 19 41125311 41125311 G T SNP LTBP4 ENST00000308370 human ensembl 69_37n +1 known nonsense c.3328 p.E1110* 0.996 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 187 0 0.00 130 70 35.00 - - - MAP3K1 0 genome.wustl.edu 37 5 56152454 56152455 + Frame_Shift_Ins INS - - A TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 5 56152454 56152455 - A INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.510_511 p.G171fs 0.997:1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 264 0 0.00 92 54 36.99 - - - MGAM 0 genome.wustl.edu 37 7 141752647 141752647 + Missense_Mutation SNP G G T TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 7 141752647 141752647 G T SNP MGAM ENST00000549489 human ensembl 69_37n +1 known missense c.3022 p.V1008F 0.014 superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 307 1 0.32 155 98 38.74 - - - MMP15 0 genome.wustl.edu 37 16 58075625 58075625 + Missense_Mutation SNP C C A TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 16 58075625 58075625 C A SNP MMP15 ENST00000219271 human ensembl 69_37n +1 known missense c.1015 p.P339T 1.000 pirsf_Pept_M10A_matrix_strom pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP15 HGNC ENSG00000102996 11 0 0.00 12 7 36.84 - - - MYO7A 0 genome.wustl.edu 37 11 76872024 76872024 + Silent SNP C C T TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 11 76872024 76872024 C T SNP MYO7A ENST00000409709 human ensembl 69_37n +1 known silent c.1206 p.I402 0.996 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 143 0 0.00 174 77 30.68 - - - OR10Z1 0 genome.wustl.edu 37 1 158577134 158577134 + Missense_Mutation SNP G G C TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 1 158577134 158577134 G C SNP OR10Z1 ENST00000361284 human ensembl 69_37n +1 known missense c.906 p.R302S 0.032 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR10Z1 HGNC ENSG00000198967 182 0 0.00 139 52 27.23 - - - SLC12A5 0 genome.wustl.edu 37 20 44665941 44665941 + Missense_Mutation SNP G G T TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 20 44665941 44665941 G T SNP SLC12A5 ENST00000454036 human ensembl 69_37n +1 known missense c.598 p.G200W 1.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 191 0 0.00 121 82 40.39 - - - SLC24A5 0 genome.wustl.edu 37 15 48431272 48431272 + Frame_Shift_Del DEL A A - TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 15 48431272 48431272 A - DEL SLC24A5 ENST00000341459 human ensembl 69_37n +1 known frame_shift_del c.978 p.K328fs 1.000 tigrfam_K-dep_Na/Ca-exchanger-like pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like - no_errors SLC24A5 HGNC ENSG00000188467 153 0 0.00 98 36 26.47 - - - SLC38A8 0 genome.wustl.edu 37 16 84050323 84050323 + Missense_Mutation SNP C C T TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 16 84050323 84050323 C T SNP SLC38A8 ENST00000299709 human ensembl 69_37n -1 known missense c.963 p.M321I 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A8 HGNC ENSG00000166558 51 0 0.00 15 21 58.33 - - - SNX20 0 genome.wustl.edu 37 16 50709816 50709816 + Silent SNP C C T TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 16 50709816 50709816 C T SNP SNX20 ENST00000330943 human ensembl 69_37n -1 known silent c.147 p.L49 0.046 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX20 HGNC ENSG00000167208 90 0 0.00 51 53 50.96 - - - USP11 0 genome.wustl.edu 37 X 47101513 47101513 + Silent SNP A A G TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 X 47101513 47101513 A G SNP USP11 ENST00000218348 human ensembl 69_37n +1 known silent c.1341 p.K447 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP11 HGNC ENSG00000102226 154 0 0.00 91 67 42.41 - - - WRNIP1 0 genome.wustl.edu 37 6 2785389 2785389 + Missense_Mutation SNP G G A TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd49ccc5-a776-4307-930c-298ba6cfdf79 bb8f16ce-4126-41ad-8775-9f7322e07420 6 2785389 2785389 G A SNP WRNIP1 ENST00000380773 human ensembl 69_37n +1 known missense c.1871 p.R624K 1.000 pfam_MgsA_C pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC ENSG00000124535 44 0 0.00 36 15 29.41 - - -