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 MAN1B1 0 genome.wustl.edu 37 9 140002840 140002840 + Missense_Mutation SNP G G T TCGA-DX-A6B9-01A-12D-A32I-09 TCGA-DX-A6B9-10A-01D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e062c178-feb3-4e3f-8ecb-f8bb99831131 d4f1cdfe-f1dd-496c-9021-403dd1e67786 9 140002840 140002840 G T SNP MAN1B1 ENST00000371589 human ensembl 74_37 +1 known missense c.1897 p.V633F 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1B1 HGNC ENSG00000177239 tier1 - - 25 0 0.00 10 8 44.44 72 0 0.00 35 30 46.15 GATA4 0 genome.wustl.edu 37 8 11615950 11615950 + Missense_Mutation SNP T T C TCGA-DX-A6B9-01A-12D-A32I-09 TCGA-DX-A6B9-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e062c178-feb3-4e3f-8ecb-f8bb99831131 d4f1cdfe-f1dd-496c-9021-403dd1e67786 8 11615950 11615950 T C SNP GATA4 ENST00000335135 human ensembl 74_37 +1 known missense c.1295 p.L432S 1.000 pirsf_TF_GATA_4/5/6 pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA4 HGNC ENSG00000136574 tier1 - - 40 0 0.00 25 19 43.18 104 0 0.00 65 37 36.27 PSMA8 0 genome.wustl.edu 37 18 23731924 23731924 + Missense_Mutation SNP G G A TCGA-DX-A6B9-01A-12D-A32I-09 TCGA-DX-A6B9-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e062c178-feb3-4e3f-8ecb-f8bb99831131 d4f1cdfe-f1dd-496c-9021-403dd1e67786 18 23731924 23731924 G A SNP PSMA8 ENST00000308268 human ensembl 74_37 +1 known missense c.350 p.R117H 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA8 HGNC ENSG00000154611 tier1 - - 59 0 0.00 44 38 46.34 156 0 0.00 55 42 43.30 BTBD11 0 genome.wustl.edu 37 12 108013765 108013765 + Missense_Mutation SNP G G A TCGA-DX-A6B9-01A-12D-A32I-09 TCGA-DX-A6B9-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e062c178-feb3-4e3f-8ecb-f8bb99831131 d4f1cdfe-f1dd-496c-9021-403dd1e67786 12 108013765 108013765 G A SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.2455 p.V819I 1.000 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 tier1 rs201620480 - 20 0 0.00 22 14 38.89 74 0 0.00 33 20 37.04 PCDH12 0 genome.wustl.edu 37 5 141334716 141334716 + Nonsense_Mutation SNP G G A TCGA-DX-A6B9-01A-12D-A32I-09 TCGA-DX-A6B9-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e062c178-feb3-4e3f-8ecb-f8bb99831131 d4f1cdfe-f1dd-496c-9021-403dd1e67786 5 141334716 141334716 G A SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known nonsense c.2701 p.Q901* 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 tier1 - - 59 0 0.00 53 34 39.08 25 0 0.00 17 3 15.00 FYB 0 genome.wustl.edu 37 5 39153561 39153561 + Silent SNP C C T TCGA-DX-A6B9-01A-12D-A32I-09 TCGA-DX-A6B9-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e062c178-feb3-4e3f-8ecb-f8bb99831131 d4f1cdfe-f1dd-496c-9021-403dd1e67786 5 39153561 39153561 C T SNP FYB ENST00000540520 human ensembl 74_37 -1 known silent c.1311 p.P437 0.790 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 tier1 rs115158663 GMAF=0.0005 81 0 0.00 54 35 39.33 105 0 0.00 52 31 36.90 COL4A1 0 genome.wustl.edu 37 13 110831646 110831646 + Silent SNP G G A TCGA-DX-A6B9-01A-12D-A32I-09 TCGA-DX-A6B9-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e062c178-feb3-4e3f-8ecb-f8bb99831131 d4f1cdfe-f1dd-496c-9021-403dd1e67786 13 110831646 110831646 G A SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known silent c.2316 p.I772 0.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 tier1 - - 41 0 0.00 75 12 13.79 134 0 0.00 83 50 37.59 SCAF11 0 genome.wustl.edu 37 12 46321265 46321265 + Missense_Mutation SNP T T C TCGA-DX-A6B9-01A-12D-A32I-09 TCGA-DX-A6B9-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e062c178-feb3-4e3f-8ecb-f8bb99831131 d4f1cdfe-f1dd-496c-9021-403dd1e67786 12 46321265 46321265 T C SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known missense c.2219 p.D740G 0.744 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 tier1 - - 21 0 0.00 8 8 50.00 73 0 0.00 32 23 41.82 COL4A1 0 genome.wustl.edu 37 13 110831720 110831720 + Missense_Mutation SNP G G A TCGA-DX-A6B9-01A-12D-A32I-09 TCGA-DX-A6B9-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e062c178-feb3-4e3f-8ecb-f8bb99831131 d4f1cdfe-f1dd-496c-9021-403dd1e67786 13 110831720 110831720 G A SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.2242 p.P748S 0.891 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 tier1 - - 53 0 0.00 56 20 26.32 142 0 0.00 118 46 28.05 MIR145 0 genome.wustl.edu 37 5 148810071 148810072 + R INS - - C TCGA-DX-A6B9-01A-12D-A32I-09 TCGA-DX-A6B9-10A-01D-A32I-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e062c178-feb3-4e3f-8ecb-f8bb99831131 d4f1cdfe-f1dd-496c-9021-403dd1e67786 5 148810071 148810072 - C INS MIR145 ENST00000602315 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.002 - - - no_errors MIR145 HGNC ENSG00000269936 tier1 8 0 0.00 7 5 41.67 120 0 0.00 55 59 51.75 MAGEA1 0 genome.wustl.edu 37 X 152482246 152482246 + Silent SNP C C T TCGA-DX-A6B9-01A-12D-A32I-09 TCGA-DX-A6B9-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e062c178-feb3-4e3f-8ecb-f8bb99831131 d4f1cdfe-f1dd-496c-9021-403dd1e67786 X 152482246 152482246 C T SNP MAGEA1 ENST00000356661 human ensembl 74_37 -1 known silent c.765 p.P255 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA1 HGNC ENSG00000198681 tier1 - - 93 0 0.00 76 47 38.21 15 0 0.00 6 9 60.00 AGAP1 0 genome.wustl.edu 37 2 236877223 236877223 + Missense_Mutation SNP G G C TCGA-DX-A6B9-01A-12D-A32I-09 TCGA-DX-A6B9-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e062c178-feb3-4e3f-8ecb-f8bb99831131 d4f1cdfe-f1dd-496c-9021-403dd1e67786 2 236877223 236877223 G C SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.1601 p.S534T 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 tier1 - - 55 0 0.00 50 26 34.21 30 1 3.03 15 9 36.00 TMEM88B 0 genome.wustl.edu 37 1 1361531 1361533 + In_Frame_Del DEL GGA GGA - TCGA-DX-A6B9-01A-12D-A32I-09 TCGA-DX-A6B9-10A-01D-A32I-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e062c178-feb3-4e3f-8ecb-f8bb99831131 d4f1cdfe-f1dd-496c-9021-403dd1e67786 1 1361531 1361533 GGA - DEL TMEM88B ENST00000378821 human ensembl 74_37 +1 novel in_frame_del c.24_26 p.E12in_frame_del 0.001:0.809:0.920 NULL NULL - no_errors TMEM88B HGNC ENSG00000205116 tier1 11 0 0.00 6 3 33.33 5 0 0.00 3 0 0.00 PCDHB3 0 genome.wustl.edu 37 5 140482187 140482187 + Missense_Mutation SNP C C T TCGA-DX-A6B9-01A-12D-A32I-09 TCGA-DX-A6B9-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e062c178-feb3-4e3f-8ecb-f8bb99831131 d4f1cdfe-f1dd-496c-9021-403dd1e67786 5 140482187 140482187 C T SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1954 p.R652C 0.752 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 tier1 - - 65 0 0.00 40 23 36.51 0 0 0.00 1 0 0.00 BPTF 0 genome.wustl.edu 37 17 65955758 65955759 + In_Frame_Ins INS - - CCTCCAGCC TCGA-DX-A6B9-01A-12D-A32I-09 TCGA-DX-A6B9-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e062c178-feb3-4e3f-8ecb-f8bb99831131 d4f1cdfe-f1dd-496c-9021-403dd1e67786 17 65955758 65955759 - CCTCCAGCC INS BPTF ENST00000321892 human ensembl 74_37 +1 known in_frame_ins c.8406_8407 p.2806in_frame_insPAP 0.001:0.001 superfamily_Bromodomain,superfamily_Adenylate_cyclase-assoc_CAP_N pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 tier1 40 0 0.00 25 2 7.41 40 0 0.00 25 2 7.41