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 ABCB4 5244 genome.wustl.edu 37 7 87074281 87074282 + Frame_Shift_Ins INS - - A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 7 87074281 87074282 - A INS ABCB4 ENST00000265723 human ensembl 70_37 -1 known frame_shift_ins c.1016_1015 p.S339fs 1.000:1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB4 HGNC ASCL4 121549 genome.wustl.edu 37 12 108169229 108169229 + Silent SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 12 108169229 108169229 C T SNP ASCL4 ENST00000342331 human ensembl 70_37 +1 known silent c.237 p.N79 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors ASCL4 HGNC BATF2 116071 genome.wustl.edu 37 11 64756991 64756991 + Silent SNP A A T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 11 64756991 64756991 A T SNP BATF2 ENST00000301887 human ensembl 70_37 -1 known silent c.435 p.S145 0.002 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors BATF2 HGNC C1orf61 10485 genome.wustl.edu 37 1 156379734 156379735 + RNA INS - - T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 1 156379734 156379735 - T INS C1orf61 ENST00000488498 human ensembl 70_37 -1 known rna NULL NULL 0.003:0.004 - - - no_errors C1orf61 HGNC CCNO 10309 genome.wustl.edu 37 5 54529143 54529143 + Missense_Mutation SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 5 54529143 54529143 C T SNP CCNO ENST00000282572 human ensembl 70_37 -1 known missense c.209 p.G70D 0.000 pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNO HGNC CROCCP2 84809 genome.wustl.edu 37 1 16946090 16946090 + RNA SNP T T C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 1 16946090 16946090 T C SNP CROCCP2 ENST00000412962 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CROCCP2 HGNC DDX11 1663 genome.wustl.edu 37 12 31242861 31242861 + Silent SNP A A C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 12 31242861 31242861 A C SNP DDX11 ENST00000407793 human ensembl 70_37 +1 known silent c.922 p.R308 0.001 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC DOK2 9046 genome.wustl.edu 37 8 21767414 21767414 + Missense_Mutation SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 8 21767414 21767414 C T SNP DOK2 ENST00000276420 human ensembl 70_37 -1 known missense c.647 p.R216H 1.000 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK2 HGNC EBPL 84650 genome.wustl.edu 37 13 50235160 50235160 + Missense_Mutation SNP G G C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 13 50235160 50235160 G C SNP EBPL ENST00000242827 human ensembl 70_37 -1 known missense c.565 p.L189V 0.264 pfam_EBP pfam_EBP - no_errors EBPL HGNC ENSG00000221528 0 genome.wustl.edu 37 16 27673314 27673314 + RNA SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 16 27673314 27673314 C T SNP ENSG00000221528 ENST00000408601 human ensembl 70_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC016597.1 Clone_based_ensembl_gene ENSG00000224788 0 genome.wustl.edu 37 10 10101345 10101345 + RNA SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 10 10101345 10101345 G A SNP ENSG00000224788 ENST00000429539 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-933E2.1 Clone_based_vega_gene ENSG00000227038 0 genome.wustl.edu 37 7 75720936 75720936 + RNA SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 7 75720936 75720936 C T SNP ENSG00000227038 ENST00000434037 human ensembl 70_37 -1 known rna NULL NULL 0.058 - - - no_errors AC005077.12 Clone_based_vega_gene ENSG00000228704 0 genome.wustl.edu 37 6 125752346 125752346 + RNA SNP G G T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 6 125752346 125752346 G T SNP ENSG00000228704 ENST00000430672 human ensembl 70_37 -1 known rna NULL NULL 0.062 - - - no_errors RP11-138M12.1 Clone_based_vega_gene ENSG00000228933 0 genome.wustl.edu 37 X 27193166 27193166 + RNA SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 X 27193166 27193166 C T SNP ENSG00000228933 ENST00000422048 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-268G12.1 Clone_based_vega_gene ENSG00000231242 0 genome.wustl.edu 37 9 69083139 69083139 + RNA SNP T T C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 9 69083139 69083139 T C SNP ENSG00000231242 ENST00000412376 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors RP11-87H9.3 Clone_based_vega_gene ENSG00000234323 0 genome.wustl.edu 37 9 109262674 109262674 + RNA SNP C C A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 9 109262674 109262674 C A SNP ENSG00000234323 ENST00000435485 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-308N19.1 Clone_based_vega_gene ENSG00000235566 0 genome.wustl.edu 37 1 143527557 143527557 + RNA SNP C C A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 1 143527557 143527557 C A SNP ENSG00000235566 ENST00000418607 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors BX004987.7 Clone_based_vega_gene ENSG00000235834 0 genome.wustl.edu 37 X 17604191 17604191 + RNA SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 X 17604191 17604191 C T SNP ENSG00000235834 ENST00000433228 human ensembl 70_37 +1 known rna NULL NULL 0.103 - - - no_errors RP1-60N8.1 Clone_based_vega_gene ENSG00000254467 0 genome.wustl.edu 37 11 123539734 123539734 + Splice_Site SNP T T C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 11 123539734 123539734 T C SNP ENSG00000254467 ENST00000532961 human ensembl 70_37 +1 known splice_site c.NULL NULL 0.161 - - - no_errors RP11-634B22.4 Clone_based_vega_gene ENSG00000261090 0 genome.wustl.edu 37 16 23034721 23034722 + RNA INS - - ACAC TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 16 23034721 23034722 - ACAC INS ENSG00000261090 ENST00000567395 human ensembl 70_37 +1 known rna NULL NULL 0.026:0.065 - - - no_errors RP11-20G6.2 Clone_based_vega_gene ENSG00000262657 0 genome.wustl.edu 37 16 31924622 31924622 + RNA SNP G G T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 16 31924622 31924622 G T SNP ENSG00000262657 ENST00000575471 human ensembl 70_37 +1 known rna NULL NULL 0.048 - - - no_errors RP11-170L3.8 Clone_based_vega_gene ENSG00000263164 0 genome.wustl.edu 37 17 5144571 5144571 + RNA SNP T T C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 17 5144571 5144571 T C SNP ENSG00000263164 ENST00000575056 human ensembl 70_37 -1 known rna NULL NULL 0.102 - - - no_errors RP11-333E1.2 Clone_based_vega_gene ENSG00000267517 0 genome.wustl.edu 37 19 16176846 16176847 + Splice_Site INS - - GTGT TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 19 16176846 16176847 - GTGT INS ENSG00000267517 ENST00000585520 human ensembl 70_37 +1 known splice_site_ins c.NULL NULL 0.000:0.000 - - - no_errors CTD-2231E14.4 Clone_based_vega_gene FAM153B 202134 genome.wustl.edu 37 5 175558737 175558737 + RNA SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 5 175558737 175558737 G A SNP FAM153B ENST00000508356 human ensembl 70_37 +1 known rna NULL NULL 0.257 - - - no_errors FAM153B HGNC FAM182B 728882 genome.wustl.edu 37 20 25831374 25831374 + RNA SNP A A T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 20 25831374 25831374 A T SNP FAM182B ENST00000582267 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM182B HGNC FBXL2 25827 genome.wustl.edu 37 3 33406150 33406150 + Missense_Mutation SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 3 33406150 33406150 G A SNP FBXL2 ENST00000484457 human ensembl 70_37 +1 known missense c.229 p.G77S 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL2 HGNC FGF18 8817 genome.wustl.edu 37 5 170876248 170876248 + Silent SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 5 170876248 170876248 C T SNP FGF18 ENST00000274625 human ensembl 70_37 +1 known silent c.348 p.L116 0.701 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF - no_errors FGF18 HGNC GTF3C1 2975 genome.wustl.edu 37 16 27471985 27471986 + RNA INS - - T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 16 27471985 27471986 - T INS GTF3C1 ENST00000567806 human ensembl 70_37 -1 known rna NULL NULL 0.603:0.466 - - - no_errors GTF3C1 HGNC GYLTL1B 120071 genome.wustl.edu 37 11 45949830 45949830 + Silent SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 11 45949830 45949830 C T SNP GYLTL1B ENST00000325468 human ensembl 70_37 +1 known silent c.1857 p.Y619 0.691 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC INHBA-AS1 285954 genome.wustl.edu 37 7 41816584 41816584 + RNA SNP C C A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 7 41816584 41816584 C A SNP INHBA-AS1 ENST00000415848 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors INHBA-AS1 HGNC JAG1 182 genome.wustl.edu 37 20 10629352 10629352 + Missense_Mutation SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 20 10629352 10629352 G A SNP JAG1 ENST00000254958 human ensembl 70_37 -1 known missense c.1414 p.R472C 1.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC KIR3DL1 3811 genome.wustl.edu 37 19 55333103 55333103 + Silent SNP C C A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 19 55333103 55333103 C A SNP KIR3DL1 ENST00000402254 human ensembl 70_37 +1 known silent c.739 p.R247 0.000 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC LINC00162 378825 genome.wustl.edu 37 21 46419224 46419224 + RNA SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 21 46419224 46419224 G A SNP LINC00162 ENST00000422199 human ensembl 70_37 -1 known rna NULL NULL 0.141 - - - no_errors LINC00162 HGNC LINC00266-1 140849 genome.wustl.edu 37 20 62934716 62934716 + RNA SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 20 62934716 62934716 G A SNP LINC00266-1 ENST00000279067 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00266-1 HGNC LOC100049716 100049716 genome.wustl.edu 37 12 772689 772689 + RNA SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 12 772689 772689 G A SNP LOC100049716 ENST00000543884 human ensembl 70_37 +1 known rna NULL NULL 0.029 - - - no_errors RP11-218M22.1 Clone_based_vega_gene LOC100133077 100133077 genome.wustl.edu 37 9 140785082 140785082 + RNA SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 9 140785082 140785082 G A SNP LOC100133077 ENST00000371390 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-188C12.3 Clone_based_vega_gene LOC100505782 100505782 genome.wustl.edu 37 17 39565702 39565702 + RNA SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 17 39565702 39565702 C T SNP LOC100505782 ENST00000430006 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC003958.2 Clone_based_vega_gene LOC283194 283194 genome.wustl.edu 37 11 58746612 58746612 + RNA SNP G G T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 11 58746612 58746612 G T SNP LOC283194 ENST00000533954 human ensembl 70_37 -1 known rna NULL NULL 0.101 - - - no_errors RP11-142C4.6 Clone_based_vega_gene LOXL1-AS1 100287616 genome.wustl.edu 37 15 74218664 74218664 + RNA SNP C C G TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 15 74218664 74218664 C G SNP LOXL1-AS1 ENST00000562130 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors LOXL1-AS1 HGNC LPHN1 22859 genome.wustl.edu 37 19 14261736 14261736 + Silent SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 19 14261736 14261736 C T SNP LPHN1 ENST00000340736 human ensembl 70_37 -1 known silent c.4374 p.E1458 1.000 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC MAP7D2 256714 genome.wustl.edu 37 X 20030618 20030618 + Missense_Mutation SNP C C A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 X 20030618 20030618 C A SNP MAP7D2 ENST00000379643 human ensembl 70_37 -1 known missense c.1921 p.G641C 0.001 NULL pfam_E-MAP-115 - no_errors MAP7D2 HGNC MED1 5469 genome.wustl.edu 37 17 37563901 37563902 + Frame_Shift_Ins INS - - T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 17 37563901 37563902 - T INS MED1 ENST00000300651 human ensembl 70_37 -1 known frame_shift_ins c.4573_4572 p.S1524fs 1.000:1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC MED1 5469 genome.wustl.edu 37 17 37563901 37563902 + Frame_Shift_Ins INS - - T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 17 37563901 37563902 - T INS MED1 ENST00000300651 human ensembl 70_37 -1 known frame_shift_ins c.4573_4572 p.S1524fs 1.000:1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC MEGF10 84466 genome.wustl.edu 37 5 126705681 126705681 + Silent SNP C C A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 5 126705681 126705681 C A SNP MEGF10 ENST00000274473 human ensembl 70_37 +1 known silent c.399 p.T133 1.000 smart_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC MIAT 440823 genome.wustl.edu 37 22 27066924 27066925 + RNA INS - - T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 22 27066924 27066925 - T INS MIAT ENST00000421151 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors MIAT HGNC MT-CO1 4512 genome.wustl.edu 37 MT 6297 6297 + Silent SNP T T C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 MT 6297 6297 T C SNP MT-CO1 ENST00000361624 human ensembl 70_37 +1 known silent c.394 p.L132 NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC NBPF10 100132406 genome.wustl.edu 37 1 145298168 145298168 + Missense_Mutation SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 1 145298168 145298168 G A SNP NBPF10 ENST00000342960 human ensembl 70_37 +1 known missense c.580 p.A194T 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC NEDD4L 23327 genome.wustl.edu 37 18 56034976 56034976 + Splice_Site SNP A A C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 18 56034976 56034976 A C SNP NEDD4L ENST00000400345 human ensembl 70_37 +1 known splice_site c.2064-2 e22-2 1.000 - - - no_errors NEDD4L HGNC NPTX1 4884 genome.wustl.edu 37 17 78449464 78449464 + Nonsense_Mutation SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 17 78449464 78449464 G A SNP NPTX1 ENST00000306773 human ensembl 70_37 -1 known nonsense c.499 p.Q167* 1.000 NULL pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX1 HGNC PDZD2 23037 genome.wustl.edu 37 5 32089653 32089653 + Silent SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 5 32089653 32089653 C T SNP PDZD2 ENST00000282493 human ensembl 70_37 +1 known silent c.6099 p.S2033 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC PIGO 84720 genome.wustl.edu 37 9 35095707 35095707 + RNA SNP T T C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 9 35095707 35095707 T C SNP PIGO ENST00000474436 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PIGO HGNC PROCA1 147011 genome.wustl.edu 37 17 27038050 27038051 + RNA INS - - G TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 17 27038050 27038051 - G INS PROCA1 ENST00000422880 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors PROCA1 HGNC SFPQ 6421 genome.wustl.edu 37 1 35645341 35645341 + RNA SNP G G T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 1 35645341 35645341 G T SNP SFPQ ENST00000468598 human ensembl 70_37 -1 known rna NULL NULL 0.070 - - - no_errors SFPQ HGNC SHOC2 8036 genome.wustl.edu 37 10 112679831 112679831 + RNA SNP G G T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 10 112679831 112679831 G T SNP SHOC2 ENST00000489783 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors SHOC2 HGNC SNHG14 0 genome.wustl.edu 37 15 25477868 25477868 + RNA SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 15 25477868 25477868 G A SNP SNHG14 ENST00000453082 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC SSBP3 23648 genome.wustl.edu 37 1 54692356 54692356 + RNA SNP A A T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 1 54692356 54692356 A T SNP SSBP3 ENST00000326956 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors SSBP3 HGNC STARD13-IT1 100874373 genome.wustl.edu 37 13 33738477 33738477 + RNA SNP G G T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 13 33738477 33738477 G T SNP STARD13-IT1 ENST00000456087 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors STARD13-IT1 HGNC SUPT7L 9913 genome.wustl.edu 37 2 27876450 27876450 + Missense_Mutation SNP C C A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 2 27876450 27876450 C A SNP SUPT7L ENST00000337768 human ensembl 70_37 -1 known missense c.1147 p.D383Y 1.000 NULL pfam_BTP,smart_BTP - no_errors SUPT7L HGNC TGFBR2 7048 genome.wustl.edu 37 3 30732976 30732976 + Missense_Mutation SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 3 30732976 30732976 C T SNP TGFBR2 ENST00000359013 human ensembl 70_37 +1 known missense c.1664 p.T555I 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Transform_growth_fac-b_typ-2,pfscan_Prot_kinase_cat_dom pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom - no_errors TGFBR2 HGNC THSD7A 221981 genome.wustl.edu 37 7 11446665 11446665 + Nonsense_Mutation SNP G G A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 7 11446665 11446665 G A SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known nonsense c.3934 p.R1312* 0.996 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC TNFRSF21 27242 genome.wustl.edu 37 6 47251881 47251881 + Missense_Mutation SNP T T C TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 6 47251881 47251881 T C SNP TNFRSF21 ENST00000296861 human ensembl 70_37 -1 known missense c.1036 p.I346V 1.000 prints_TNFR_21 pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21 - no_errors TNFRSF21 HGNC USP42 84132 genome.wustl.edu 37 7 6182606 6182606 + Missense_Mutation SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 7 6182606 6182606 C T SNP USP42 ENST00000306177 human ensembl 70_37 +1 known missense c.839 p.P280L 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP42 HGNC WBP4 11193 genome.wustl.edu 37 13 41639425 41639426 + Splice_Site DEL TA TA - TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 13 41639425 41639426 TA - DEL WBP4 ENST00000379487 human ensembl 70_37 +1 known splice_site_del c.262+2_262+1 e4+2 1.000:0.999 - - - no_errors WBP4 HGNC WTIP 126374 genome.wustl.edu 37 19 34973057 34973057 + Nonsense_Mutation SNP G G T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 19 34973057 34973057 G T SNP WTIP ENST00000270288 human ensembl 70_37 +1 known nonsense c.850 p.E284* 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors WTIP HGNC WTIP 126374 genome.wustl.edu 37 19 34973058 34973058 + Missense_Mutation SNP A A T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 19 34973058 34973058 A T SNP WTIP ENST00000270288 human ensembl 70_37 +1 known missense c.851 p.E284V 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors WTIP HGNC XIRP2 129446 genome.wustl.edu 37 2 168100990 168100990 + Missense_Mutation SNP G G T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 2 168100990 168100990 G T SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known missense c.3088 p.D1030Y 1.000 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ZNF295-AS1 150142 genome.wustl.edu 37 21 43443259 43443260 + RNA INS - - A TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 96ea0b20-0da0-4bdd-bbf0-799b981e778b e472c85c-6544-4277-a4f5-64e8199980e1 21 43443259 43443260 - A INS ZNF295-AS1 ENST00000596595 human ensembl 70_37 +1 known rna NULL NULL 0.015:0.019 - - - no_errors ZNF295-AS1 HGNC