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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val HERC1 0 genome.wustl.edu 37 15 63928318 63928318 + Missense_Mutation SNP T T C TCGA-X6-A8C7-01A-11D-A36J-09 TCGA-X6-A8C7-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b052af04-ea5e-4acc-8fd1-1b647128a35b ef4fb3ba-651c-48b8-b2c6-5e957c154b14 15 63928318 63928318 T C SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.12256 p.T4086A 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 67 0 0.00 34 37 52.11 97 0 0.00 65 59 47.58 TRDN 0 genome.wustl.edu 37 6 123869712 123869712 + Missense_Mutation SNP C C T TCGA-X6-A8C7-01A-11D-A36J-09 TCGA-X6-A8C7-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b052af04-ea5e-4acc-8fd1-1b647128a35b ef4fb3ba-651c-48b8-b2c6-5e957c154b14 6 123869712 123869712 C T SNP TRDN ENST00000398178 human ensembl 74_37 -1 known missense c.278 p.R93H 0.983 pfam_Asp-B-hydro/Triadin_dom pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 tier1 - - 51 0 0.00 30 10 25.00 104 0 0.00 63 17 20.73 ZEB2-AS1 0 genome.wustl.edu 37 2 145277515 145277515 + R SNP C C G TCGA-X6-A8C7-01A-11D-A36J-09 TCGA-X6-A8C7-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b052af04-ea5e-4acc-8fd1-1b647128a35b ef4fb3ba-651c-48b8-b2c6-5e957c154b14 2 145277515 145277515 C G SNP ZEB2-AS1 ENST00000421083 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZEB2-AS1 HGNC ENSG00000238057 tier1 - - 81 0 0.00 34 21 38.18 143 0 0.00 56 56 50.00 POU2F2 0 genome.wustl.edu 37 19 42626729 42626729 + Splice_Site SNP C C T TCGA-X6-A8C7-01A-11D-A36J-09 TCGA-X6-A8C7-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b052af04-ea5e-4acc-8fd1-1b647128a35b ef4fb3ba-651c-48b8-b2c6-5e957c154b14 19 42626729 42626729 C T SNP POU2F2 ENST00000342301 human ensembl 74_37 -1 known splice_site c.29-1 e2-1 1.000 - - - no_errors POU2F2 HGNC ENSG00000028277 tier1 - - 103 0 0.00 66 24 26.67 82 0 0.00 45 19 29.69 TTLL11 0 genome.wustl.edu 37 9 124801570 124801570 + Silent SNP A A T TCGA-X6-A8C7-01A-11D-A36J-09 TCGA-X6-A8C7-10A-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b052af04-ea5e-4acc-8fd1-1b647128a35b ef4fb3ba-651c-48b8-b2c6-5e957c154b14 9 124801570 124801570 A T SNP TTLL11 ENST00000321582 human ensembl 74_37 -1 known silent c.810 p.G270 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL11 HGNC ENSG00000175764 tier1 - - 97 0 0.00 62 8 11.43 141 0 0.00 96 15 13.51 ATG16L1 0 genome.wustl.edu 37 2 234173536 234173536 + Splice_Site SNP A A G TCGA-X6-A8C7-01A-11D-A36J-09 TCGA-X6-A8C7-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b052af04-ea5e-4acc-8fd1-1b647128a35b ef4fb3ba-651c-48b8-b2c6-5e957c154b14 2 234173536 234173536 A G SNP ATG16L1 ENST00000392017 human ensembl 74_37 +1 known splice_site c.390-2 e5-2 1.000 - - - no_errors ATG16L1 HGNC ENSG00000085978 tier1 - - 54 0 0.00 26 14 35.00 84 0 0.00 29 28 49.12 COPE 0 genome.wustl.edu 37 19 19021743 19021748 + R DEL CCCGCG CCCGCG - TCGA-X6-A8C7-01A-11D-A36J-09 TCGA-X6-A8C7-10A-01D-A36M-09 CCCGCG CCCGCG CCCGCG - CCCGCG CCCGCG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b052af04-ea5e-4acc-8fd1-1b647128a35b ef4fb3ba-651c-48b8-b2c6-5e957c154b14 19 19021743 19021748 CCCGCG - DEL COPE ENST00000597646 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.001:0.002:0.002:0.015:0.028 - - - no_errors COPE HGNC ENSG00000105669 tier1 100 0 0.00 32 35 52.24 100 0 0.00 32 35 52.24 DBN1 0 genome.wustl.edu 37 5 176885489 176885490 + Frame_Shift_Ins INS - - C TCGA-X6-A8C7-01A-11D-A36J-09 TCGA-X6-A8C7-10A-01D-A36M-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b052af04-ea5e-4acc-8fd1-1b647128a35b ef4fb3ba-651c-48b8-b2c6-5e957c154b14 5 176885489 176885490 - C INS DBN1 ENST00000292385 human ensembl 74_37 -1 known frame_shift_ins c.1352_1351 p.A451fs 0.212:0.018 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors DBN1 HGNC ENSG00000113758 tier1 68 0 0.00 22 15 40.54 88 0 0.00 29 31 51.67 DTX1 0 genome.wustl.edu 37 12 113532615 113532615 + Nonsense_Mutation SNP C C T TCGA-X6-A8C7-01A-11D-A36J-09 TCGA-X6-A8C7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b052af04-ea5e-4acc-8fd1-1b647128a35b ef4fb3ba-651c-48b8-b2c6-5e957c154b14 12 113532615 113532615 C T SNP DTX1 ENST00000257600 human ensembl 74_37 +1 known nonsense c.1249 p.R417* 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 tier1 - - 33 0 0.00 31 4 11.43 5 0 0.00 8 0 0.00 LOC440905 0 genome.wustl.edu 37 2 130807905 130807905 + R SNP G G T TCGA-X6-A8C7-01A-11D-A36J-09 TCGA-X6-A8C7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b052af04-ea5e-4acc-8fd1-1b647128a35b ef4fb3ba-651c-48b8-b2c6-5e957c154b14 2 130807905 130807905 G T SNP LOC440905 ENST00000325390 human ensembl 74_37 -1 known rna NULL NULL 0.233 - - - no_errors AC018865.8 Clone_based_vega_gene ENSG00000180178 tier1 rs201541587 - 32 0 0.00 16 4 20.00 6 0 0.00 9 0 0.00 RPL13A 0 genome.wustl.edu 37 19 49993810 49993810 + Missense_Mutation SNP G G A TCGA-X6-A8C7-01A-11D-A36J-09 TCGA-X6-A8C7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b052af04-ea5e-4acc-8fd1-1b647128a35b ef4fb3ba-651c-48b8-b2c6-5e957c154b14 19 49993810 49993810 G A SNP RPL13A ENST00000391857 human ensembl 74_37 +1 known missense c.233 p.R78H 1.000 pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc - no_errors RPL13A HGNC ENSG00000142541 tier1 - - 50 0 0.00 46 4 8.00 6 0 0.00 2 0 0.00 STAB1 0 genome.wustl.edu 37 3 52540712 52540712 + Missense_Mutation SNP G G T TCGA-X6-A8C7-01A-11D-A36J-09 TCGA-X6-A8C7-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b052af04-ea5e-4acc-8fd1-1b647128a35b ef4fb3ba-651c-48b8-b2c6-5e957c154b14 3 52540712 52540712 G T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.1835 p.R612L 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 tier1 - - 30 0 0.00 8 4 33.33 6 0 0.00 5 0 0.00 ENSG00000221280 0 genome.wustl.edu 37 12 118604652 118604653 + R INS - - ACAC TCGA-X6-A8C7-01A-11D-A36J-09 TCGA-X6-A8C7-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b052af04-ea5e-4acc-8fd1-1b647128a35b ef4fb3ba-651c-48b8-b2c6-5e957c154b14 12 118604652 118604653 - ACAC INS ENSG00000221280 ENST00000408353 human ensembl 74_37 +1 novel rna NULL NULL 0.002:0.000 - - - no_errors AC026366.1 Clone_based_ensembl_gene ENSG00000221280 tier1 19 0 0.00 8 3 27.27 0 0 0.00 0 0 0.00 NUTM2E 0 genome.wustl.edu 37 10 81606700 81606700 + Silent SNP C C T TCGA-X6-A8C7-01A-11D-A36J-09 TCGA-X6-A8C7-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b052af04-ea5e-4acc-8fd1-1b647128a35b ef4fb3ba-651c-48b8-b2c6-5e957c154b14 10 81606700 81606700 C T SNP NUTM2E ENST00000429984 human ensembl 74_37 +1 known silent c.1197 p.Y399 0.069 NULL NULL - no_errors NUTM2E HGNC ENSG00000228570 tier1 - - 17 0 0.00 3 5 62.50 3 0 0.00 1 1 50.00 ENSG00000267075 0 genome.wustl.edu 37 17 20451293 20451293 + R SNP A A G TCGA-X6-A8C7-01A-11D-A36J-09 TCGA-X6-A8C7-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b052af04-ea5e-4acc-8fd1-1b647128a35b ef4fb3ba-651c-48b8-b2c6-5e957c154b14 17 20451293 20451293 A G SNP ENSG00000267075 ENST00000591705 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors RP11-434D2.3 Clone_based_vega_gene ENSG00000267075 tier1 - - 24 0 0.00 15 5 25.00 2 0 0.00 9 2 18.18