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 ABCG1 0 genome.wustl.edu 37 21 43693544 43693544 + Missense_Mutation SNP T T A TCGA-BH-A0H6-01A-21W-A071-09 TCGA-BH-A0H6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbed00d2-9791-464d-a1ba-28fd56a0504e 6ddf4ce5-5956-4394-af6e-f840573ac67e 21 43693544 43693544 T A SNP ABCG1 ENST00000398437 human ensembl 69_37n +1 known missense c.974 p.M325K 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 25 0 0.00 11 7 38.89 - - - ABO 0 genome.wustl.edu 37 9 136131313 136131314 + RNA INS - - C TCGA-BH-A0H6-01A-21W-A071-09 TCGA-BH-A0H6-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbed00d2-9791-464d-a1ba-28fd56a0504e 6ddf4ce5-5956-4394-af6e-f840573ac67e 9 136131313 136131314 - C INS ABO ENST00000453660 human ensembl 69_37n -1 known rna NULL NULL 0.116:0.001 - - - no_errors ABO HGNC ENSG00000175164 29 0 0.00 27 3 10.00 - - - CACNA1D 0 genome.wustl.edu 37 3 53844194 53844194 + Missense_Mutation SNP C C T TCGA-BH-A0H6-01A-21W-A071-09 TCGA-BH-A0H6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbed00d2-9791-464d-a1ba-28fd56a0504e 6ddf4ce5-5956-4394-af6e-f840573ac67e 3 53844194 53844194 C T SNP CACNA1D ENST00000288139 human ensembl 69_37n +1 known missense c.6121 p.R2041C 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 48 0 0.00 23 11 32.35 - - - CEP164 0 genome.wustl.edu 37 11 117252486 117252487 + Frame_Shift_Ins INS - - C TCGA-BH-A0H6-01A-21W-A071-09 TCGA-BH-A0H6-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbed00d2-9791-464d-a1ba-28fd56a0504e 6ddf4ce5-5956-4394-af6e-f840573ac67e 11 117252486 117252487 - C INS CEP164 ENST00000278935 human ensembl 69_37n +1 known frame_shift_ins c.1479_1480 p.P494fs 0.299:0.293 NULL superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors CEP164 HGNC ENSG00000110274 13 0 0.00 5 2 28.57 - - - CHGB 0 genome.wustl.edu 37 20 5903619 5903619 + Nonsense_Mutation SNP C C T TCGA-BH-A0H6-01A-21W-A071-09 TCGA-BH-A0H6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbed00d2-9791-464d-a1ba-28fd56a0504e 6ddf4ce5-5956-4394-af6e-f840573ac67e 20 5903619 5903619 C T SNP CHGB ENST00000378961 human ensembl 69_37n +1 known nonsense c.829 p.R277* 0.979 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 88 0 0.00 38 31 44.29 - - - DNAH8 0 genome.wustl.edu 37 6 38851106 38851106 + Silent SNP G G A TCGA-BH-A0H6-01A-21W-A071-09 TCGA-BH-A0H6-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbed00d2-9791-464d-a1ba-28fd56a0504e 6ddf4ce5-5956-4394-af6e-f840573ac67e 6 38851106 38851106 G A SNP DNAH8 ENST00000359357 human ensembl 69_37n +1 known silent c.7359 p.L2453 1.000 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 300 0 0.00 262 156 37.32 - - - EWSR1 0 genome.wustl.edu 37 22 29668221 29668221 + Frame_Shift_Del DEL C C - TCGA-BH-A0H6-01A-21W-A071-09 TCGA-BH-A0H6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbed00d2-9791-464d-a1ba-28fd56a0504e 6ddf4ce5-5956-4394-af6e-f840573ac67e 22 29668221 29668221 C - DEL EWSR1 ENST00000414183 human ensembl 69_37n +1 known frame_shift_del c.30 p.Q11fs 1.000 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC ENSG00000182944 112 0 0.00 65 36 35.64 - - - GAP43 0 genome.wustl.edu 37 3 115395170 115395170 + Missense_Mutation SNP G G T TCGA-BH-A0H6-01A-21W-A071-09 TCGA-BH-A0H6-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbed00d2-9791-464d-a1ba-28fd56a0504e 6ddf4ce5-5956-4394-af6e-f840573ac67e 3 115395170 115395170 G T SNP GAP43 ENST00000305124 human ensembl 69_37n +1 known missense c.341 p.G114V 0.106 pfam_Neuromodulin_C pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Neuromodulin,pfscan_IQ_motif_EF-hand-BS - no_errors GAP43 HGNC ENSG00000172020 111 1 0.89 57 30 34.48 - - - GBP6 0 genome.wustl.edu 37 1 89843685 89843685 + Missense_Mutation SNP G G T TCGA-BH-A0H6-01A-21W-A071-09 TCGA-BH-A0H6-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbed00d2-9791-464d-a1ba-28fd56a0504e 6ddf4ce5-5956-4394-af6e-f840573ac67e 1 89843685 89843685 G T SNP GBP6 ENST00000370456 human ensembl 69_37n +1 known missense c.342 p.W114C 1.000 pfam_Guanylate-bd_N pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP6 HGNC ENSG00000183347 194 0 0.00 160 72 30.90 - - - GULP1 0 genome.wustl.edu 37 2 189405977 189405977 + Missense_Mutation SNP T T C TCGA-BH-A0H6-01A-21W-A071-09 TCGA-BH-A0H6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbed00d2-9791-464d-a1ba-28fd56a0504e 6ddf4ce5-5956-4394-af6e-f840573ac67e 2 189405977 189405977 T C SNP GULP1 ENST00000359135 human ensembl 69_37n +1 known missense c.331 p.F111L 1.000 pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors GULP1 HGNC ENSG00000144366 127 0 0.00 108 93 46.27 - - - INO80B 0 genome.wustl.edu 37 2 74684835 74684835 + Silent SNP G G C TCGA-BH-A0H6-01A-21W-A071-09 TCGA-BH-A0H6-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbed00d2-9791-464d-a1ba-28fd56a0504e 6ddf4ce5-5956-4394-af6e-f840573ac67e 2 74684835 74684835 G C SNP INO80B ENST00000452361 human ensembl 69_37n +1 known silent c.915 p.P305 0.002 pfam_Znf_HIT pfam_PAPA1,pfam_Znf_HIT - no_errors INO80B HGNC ENSG00000115274 23 0 0.00 16 11 40.74 - - - LMBR1L 0 genome.wustl.edu 37 12 49496159 49496159 + Missense_Mutation SNP T T A TCGA-BH-A0H6-01A-21W-A071-09 TCGA-BH-A0H6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbed00d2-9791-464d-a1ba-28fd56a0504e 6ddf4ce5-5956-4394-af6e-f840573ac67e 12 49496159 49496159 T A SNP LMBR1L ENST00000267102 human ensembl 69_37n -1 known missense c.770 p.N257I 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt - no_errors LMBR1L HGNC ENSG00000139636 96 0 0.00 75 44 36.97 - - - RUNX1T1 0 genome.wustl.edu 37 8 92972572 92972572 + Silent SNP C C T TCGA-BH-A0H6-01A-21W-A071-09 TCGA-BH-A0H6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbed00d2-9791-464d-a1ba-28fd56a0504e 6ddf4ce5-5956-4394-af6e-f840573ac67e 8 92972572 92972572 C T SNP RUNX1T1 ENST00000436581 human ensembl 69_37n -1 known silent c.1746 p.T582 0.850 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 43 0 0.00 118 51 29.48 - - - SACS 0 genome.wustl.edu 37 13 23930148 23930148 + Splice_Site SNP T T G TCGA-BH-A0H6-01A-21W-A071-09 TCGA-BH-A0H6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbed00d2-9791-464d-a1ba-28fd56a0504e 6ddf4ce5-5956-4394-af6e-f840573ac67e 13 23930148 23930148 T G SNP SACS ENST00000382292 human ensembl 69_37n -1 known splice_site c.605-2 e7-2 1.000 - - - no_errors SACS HGNC ENSG00000151835 68 0 0.00 45 24 34.78 - - - SCUBE1 0 genome.wustl.edu 37 22 43603586 43603586 + Missense_Mutation SNP C C T TCGA-BH-A0H6-01A-21W-A071-09 TCGA-BH-A0H6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbed00d2-9791-464d-a1ba-28fd56a0504e 6ddf4ce5-5956-4394-af6e-f840573ac67e 22 43603586 43603586 C T SNP SCUBE1 ENST00000360835 human ensembl 69_37n -1 known missense c.2768 p.R923H 0.980 NULL pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 12 0 0.00 10 8 44.44 - - - SMCHD1 0 genome.wustl.edu 37 18 2700752 2700752 + Missense_Mutation SNP C C T TCGA-BH-A0H6-01A-21W-A071-09 TCGA-BH-A0H6-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbed00d2-9791-464d-a1ba-28fd56a0504e 6ddf4ce5-5956-4394-af6e-f840573ac67e 18 2700752 2700752 C T SNP SMCHD1 ENST00000320876 human ensembl 69_37n +1 known missense c.1483 p.P495S 1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 101 0 0.00 27 48 64.00 - - - UGT2A1 0 genome.wustl.edu 37 4 70504971 70504971 + Missense_Mutation SNP T T A TCGA-BH-A0H6-01A-21W-A071-09 TCGA-BH-A0H6-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbed00d2-9791-464d-a1ba-28fd56a0504e 6ddf4ce5-5956-4394-af6e-f840573ac67e 4 70504971 70504971 T A SNP UGT2A1 ENST00000457664 human ensembl 69_37n -1 known missense c.388 p.I130F 0.001 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A1 HGNC ENSG00000173610 256 0 0.00 195 112 36.48 - - - ZNF45 0 genome.wustl.edu 37 19 44419341 44419341 + Silent SNP G G A TCGA-BH-A0H6-01A-21W-A071-09 TCGA-BH-A0H6-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbed00d2-9791-464d-a1ba-28fd56a0504e 6ddf4ce5-5956-4394-af6e-f840573ac67e 19 44419341 44419341 G A SNP ZNF45 ENST00000269973 human ensembl 69_37n -1 known silent c.247 p.L83 0.021 NULL 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 ZNF45 HGNC ENSG00000124459 105 0 0.00 58 42 42.00 - - -