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 AARS 16 genome.wustl.edu 37 16 70303578 70303578 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 16 70303578 70303578 G A SNP AARS ENST00000261772 human ensembl 70_37 -1 known missense c.905 p.A302V 0.999 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,prints_Ala-tRNA-lgiase_IIc,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,pfscan_Ala-tRNA-synth_IIc_core,prints_Ala-tRNA-lgiase_IIc,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS HGNC AARS 16 genome.wustl.edu 37 16 70303578 70303578 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 16 70303578 70303578 G A SNP AARS ENST00000261772 human ensembl 70_37 -1 known missense c.905 p.A302V 0.999 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,prints_Ala-tRNA-lgiase_IIc,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,pfscan_Ala-tRNA-synth_IIc_core,prints_Ala-tRNA-lgiase_IIc,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS HGNC ALPK1 80216 genome.wustl.edu 37 4 113353125 113353125 + Missense_Mutation SNP A A C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 4 113353125 113353125 A C SNP ALPK1 ENST00000177648 human ensembl 70_37 +1 known missense c.2422 p.N808H 0.000 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ALPK1 80216 genome.wustl.edu 37 4 113353125 113353125 + Missense_Mutation SNP A A C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 4 113353125 113353125 A C SNP ALPK1 ENST00000177648 human ensembl 70_37 +1 known missense c.2422 p.N808H 0.000 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ANKRD30A 91074 genome.wustl.edu 37 10 37508593 37508594 + Frame_Shift_Ins INS - - AG TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 10 37508593 37508594 - AG INS ANKRD30A ENST00000361713 human ensembl 70_37 +1 known frame_shift_ins c.3785_3786 p.L1263fs 0.003:0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC AP4E1 23431 genome.wustl.edu 37 15 51210301 51210302 + RNA INS - - A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 15 51210301 51210302 - A INS AP4E1 ENST00000561004 human ensembl 70_37 +1 putative rna NULL NULL 0.008:0.007 - - - no_errors AP4E1 HGNC ARHGEF1 9138 genome.wustl.edu 37 19 42396558 42396558 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 42396558 42396558 C T SNP ARHGEF1 ENST00000596957 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ARHGEF1 HGNC ARHGEF1 9138 genome.wustl.edu 37 19 42396558 42396558 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 42396558 42396558 C T SNP ARHGEF1 ENST00000596957 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ARHGEF1 HGNC BAGE2 85319 genome.wustl.edu 37 21 11038789 11038789 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 21 11038789 11038789 C T SNP BAGE2 ENST00000470054 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors BAGE2 HGNC BAI1 575 genome.wustl.edu 37 8 143614774 143614774 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 8 143614774 143614774 G A SNP BAI1 ENST00000323289 human ensembl 70_37 +1 known missense c.3517 p.D1173N 1.000 pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC BAI1 575 genome.wustl.edu 37 8 143614774 143614774 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 8 143614774 143614774 G A SNP BAI1 ENST00000323289 human ensembl 70_37 +1 known missense c.3517 p.D1173N 1.000 pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC BARD1 580 genome.wustl.edu 37 2 215645967 215645968 + Frame_Shift_Ins INS - - C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 215645967 215645968 - C INS BARD1 ENST00000260947 human ensembl 70_37 -1 known frame_shift_ins c.631_630 p.L210fs 0.942:0.919 NULL pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC BID 637 genome.wustl.edu 37 22 18222870 18222870 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 22 18222870 18222870 C T SNP BID ENST00000342111 human ensembl 70_37 -1 known missense c.296 p.G99D 0.016 NULL pfam_BID - no_errors BID HGNC CASZ1 54897 genome.wustl.edu 37 1 10699536 10699536 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 10699536 10699536 C T SNP CASZ1 ENST00000377022 human ensembl 70_37 -1 known silent c.4743 p.T1581 0.996 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC CASZ1 54897 genome.wustl.edu 37 1 10699536 10699536 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 10699536 10699536 C T SNP CASZ1 ENST00000377022 human ensembl 70_37 -1 known silent c.4743 p.T1581 0.996 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC CDH20 28316 genome.wustl.edu 37 18 59166539 59166539 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 18 59166539 59166539 G A SNP CDH20 ENST00000262717 human ensembl 70_37 +1 known missense c.367 p.D123N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC CDH20 28316 genome.wustl.edu 37 18 59166539 59166539 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 18 59166539 59166539 G A SNP CDH20 ENST00000262717 human ensembl 70_37 +1 known missense c.367 p.D123N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC CLIP3 25999 genome.wustl.edu 37 19 36517911 36517911 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 36517911 36517911 C T SNP CLIP3 ENST00000360535 human ensembl 70_37 -1 known missense c.343 p.G115R 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC CLIP3 25999 genome.wustl.edu 37 19 36517911 36517911 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 36517911 36517911 C T SNP CLIP3 ENST00000360535 human ensembl 70_37 -1 known missense c.343 p.G115R 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC COL11A2 1302 genome.wustl.edu 37 6 33148097 33148097 + Nonsense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 6 33148097 33148097 G A SNP COL11A2 ENST00000341947 human ensembl 70_37 -1 known nonsense c.1297 p.R433* 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC COL11A2 1302 genome.wustl.edu 37 6 33148097 33148097 + Nonsense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 6 33148097 33148097 G A SNP COL11A2 ENST00000341947 human ensembl 70_37 -1 known nonsense c.1297 p.R433* 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC CRYM-AS1 400508 genome.wustl.edu 37 16 21328281 21328281 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 16 21328281 21328281 C T SNP CRYM-AS1 ENST00000338573 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CRYM-AS1 HGNC CRYM-AS1 400508 genome.wustl.edu 37 16 21328281 21328281 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 16 21328281 21328281 C T SNP CRYM-AS1 ENST00000338573 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CRYM-AS1 HGNC CT45A1 541466 genome.wustl.edu 37 X 134847423 134847423 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 134847423 134847423 G A SNP CT45A1 ENST00000482795 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors CT45A1 HGNC DDX41 51428 genome.wustl.edu 37 5 176938929 176938929 + Splice_Site SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 5 176938929 176938929 C A SNP DDX41 ENST00000507955 human ensembl 70_37 -1 known splice_site c.1733-1 e17-1 1.000 - - - no_errors DDX41 HGNC DISP1 84976 genome.wustl.edu 37 1 223176989 223176989 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 223176989 223176989 C T SNP DISP1 ENST00000284476 human ensembl 70_37 +1 known silent c.2250 p.S750 0.003 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC DISP1 84976 genome.wustl.edu 37 1 223176989 223176989 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 223176989 223176989 C T SNP DISP1 ENST00000284476 human ensembl 70_37 +1 known silent c.2250 p.S750 0.003 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC DNAJC27-AS1 729723 genome.wustl.edu 37 2 25224348 25224348 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 25224348 25224348 G A SNP DNAJC27-AS1 ENST00000434897 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DNAJC27-AS1 HGNC DPYSL2 1808 genome.wustl.edu 37 8 26477451 26477451 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 8 26477451 26477451 C T SNP DPYSL2 ENST00000523690 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors DPYSL2 HGNC DSEL 92126 genome.wustl.edu 37 18 65181691 65181691 + Missense_Mutation SNP G G T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 18 65181691 65181691 G T SNP DSEL ENST00000310045 human ensembl 70_37 -1 known missense c.185 p.P62H 0.050 NULL pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC DSEL 92126 genome.wustl.edu 37 18 65181691 65181691 + Missense_Mutation SNP G G T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 18 65181691 65181691 G T SNP DSEL ENST00000310045 human ensembl 70_37 -1 known missense c.185 p.P62H 0.050 NULL pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC DZANK1 55184 genome.wustl.edu 37 20 18395005 18395005 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 20 18395005 18395005 C T SNP DZANK1 ENST00000262547 human ensembl 70_37 -1 known missense c.1229 p.R410H 0.000 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors DZANK1 HGNC DZANK1 55184 genome.wustl.edu 37 20 18395005 18395005 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 20 18395005 18395005 C T SNP DZANK1 ENST00000262547 human ensembl 70_37 -1 known missense c.1229 p.R410H 0.000 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors DZANK1 HGNC ELMSAN1 91748 genome.wustl.edu 37 14 74206775 74206775 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 14 74206775 74206775 C T SNP ELMSAN1 ENST00000486739 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ELMSAN1 HGNC ELMSAN1 91748 genome.wustl.edu 37 14 74206775 74206775 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 14 74206775 74206775 C T SNP ELMSAN1 ENST00000486739 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ELMSAN1 HGNC ENSG00000201912 0 genome.wustl.edu 37 X 144138901 144138901 + RNA SNP A A G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 144138901 144138901 A G SNP ENSG00000201912 ENST00000365042 human ensembl 70_37 +1 novel rna NULL NULL 0.004 - - - no_errors 7SK RFAM ENSG00000206700 0 genome.wustl.edu 37 1 48809985 48809985 + RNA SNP T T C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 48809985 48809985 T C SNP ENSG00000206700 ENST00000383973 human ensembl 70_37 +1 novel rna NULL NULL 0.122 - - - no_errors U6 RFAM ENSG00000224194 0 genome.wustl.edu 37 2 15808904 15808904 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 15808904 15808904 C T SNP ENSG00000224194 ENST00000431117 human ensembl 70_37 -1 known rna NULL NULL 0.403 - - - no_errors AC008278.3 Clone_based_vega_gene ENSG00000224541 0 genome.wustl.edu 37 21 27548016 27548016 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 21 27548016 27548016 G A SNP ENSG00000224541 ENST00000455275 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors AP001439.2 Clone_based_vega_gene ENSG00000227552 0 genome.wustl.edu 37 1 142558868 142558868 + RNA SNP T T G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 142558868 142558868 T G SNP ENSG00000227552 ENST00000445662 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors AL583842.1 Clone_based_vega_gene ENSG00000227602 0 genome.wustl.edu 37 6 56196760 56196760 + RNA SNP A A T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 6 56196760 56196760 A T SNP ENSG00000227602 ENST00000415663 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP3-445N2.1 Clone_based_vega_gene ENSG00000228384 0 genome.wustl.edu 37 2 71221896 71221896 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 71221896 71221896 C T SNP ENSG00000228384 ENST00000601923 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC007040.6 Clone_based_vega_gene ENSG00000228384 0 genome.wustl.edu 37 2 71221896 71221896 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 71221896 71221896 C T SNP ENSG00000228384 ENST00000601923 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC007040.6 Clone_based_vega_gene ENSG00000229012 0 genome.wustl.edu 37 X 8835639 8835640 + RNA INS - - GA TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 8835639 8835640 - GA INS ENSG00000229012 ENST00000440430 human ensembl 70_37 -1 known rna NULL NULL 0.004:0.002 - - - no_errors GS1-542M4.4 Clone_based_vega_gene ENSG00000229334 0 genome.wustl.edu 37 3 194353786 194353786 + RNA SNP C C G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 3 194353786 194353786 C G SNP ENSG00000229334 ENST00000447139 human ensembl 70_37 +1 known rna NULL NULL 0.030 - - - no_errors AC046143.3 Clone_based_vega_gene ENSG00000231420 0 genome.wustl.edu 37 2 151113458 151113458 + RNA SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 151113458 151113458 C A SNP ENSG00000231420 ENST00000429317 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC113610.1 Clone_based_vega_gene ENSG00000233973 0 genome.wustl.edu 37 1 73802686 73802686 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 73802686 73802686 G A SNP ENSG00000233973 ENST00000440762 human ensembl 70_37 +1 known rna NULL NULL 0.050 - - - no_errors RP4-598G3.1 Clone_based_vega_gene ENSG00000234960 0 genome.wustl.edu 37 9 137476214 137476214 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 9 137476214 137476214 G A SNP ENSG00000234960 ENST00000423455 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-54A22.1 Clone_based_vega_gene ENSG00000237851 0 genome.wustl.edu 37 6 143109406 143109406 + RNA SNP G G T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 6 143109406 143109406 G T SNP ENSG00000237851 ENST00000454411 human ensembl 70_37 +1 known rna NULL NULL 0.050 - - - no_errors RP1-67K17.4 Clone_based_vega_gene ENSG00000244625 0 genome.wustl.edu 37 22 27176082 27176082 + RNA SNP T T C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 22 27176082 27176082 T C SNP ENSG00000244625 ENST00000437071 human ensembl 70_37 +1 known rna NULL NULL 0.812 - - - no_errors CTA-211A9.5 Clone_based_vega_gene ENSG00000245685 0 genome.wustl.edu 37 4 190860985 190860986 + RNA INS - - T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 4 190860985 190860986 - T INS ENSG00000245685 ENST00000501825 human ensembl 70_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors AF146191.4 Clone_based_vega_gene ENSG00000247877 0 genome.wustl.edu 37 5 99785854 99785854 + RNA SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 5 99785854 99785854 C A SNP ENSG00000247877 ENST00000499025 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors CTD-2001C12.1 Clone_based_vega_gene ENSG00000249275 0 genome.wustl.edu 37 4 158559035 158559035 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 4 158559035 158559035 C T SNP ENSG00000249275 ENST00000507296 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-364P22.2 Clone_based_vega_gene ENSG00000256995 0 genome.wustl.edu 37 12 23206992 23206992 + RNA SNP G G T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 12 23206992 23206992 G T SNP ENSG00000256995 ENST00000540895 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-114G22.1 Clone_based_vega_gene ENSG00000257259 0 genome.wustl.edu 37 12 59010884 59010885 + RNA INS - - T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 12 59010884 59010885 - T INS ENSG00000257259 ENST00000550678 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-767I20.1 Clone_based_vega_gene ENSG00000258398 0 genome.wustl.edu 37 14 51353173 51353173 + RNA SNP A A G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 14 51353173 51353173 A G SNP ENSG00000258398 ENST00000554141 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-218E20.6 Clone_based_vega_gene ENSG00000258754 0 genome.wustl.edu 37 15 94608103 94608103 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 15 94608103 94608103 C T SNP ENSG00000258754 ENST00000555772 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-3049M7.1 Clone_based_vega_gene ENSG00000260468 0 genome.wustl.edu 37 16 10608701 10608701 + RNA SNP T T A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 16 10608701 10608701 T A SNP ENSG00000260468 ENST00000566787 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-27M24.3 Clone_based_vega_gene ENSG00000260517 0 genome.wustl.edu 37 16 29151049 29151049 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 16 29151049 29151049 C T SNP ENSG00000260517 ENST00000563477 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-426C22.5 Clone_based_vega_gene ENSG00000261050 0 genome.wustl.edu 37 3 150183978 150183979 + RNA INS - - CA TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 3 150183978 150183979 - CA INS ENSG00000261050 ENST00000565554 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.020 - - - no_errors RP11-145F16.2 Clone_based_vega_gene ENSG00000262415 0 genome.wustl.edu 37 17 80632388 80632389 + RNA INS - - C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 17 80632388 80632389 - C INS ENSG00000262415 ENST00000574080 human ensembl 70_37 -1 known rna NULL NULL 0.020:0.036 - - - no_errors RP11-388C12.2 Clone_based_vega_gene ENSG00000262772 0 genome.wustl.edu 37 17 77801194 77801194 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 17 77801194 77801194 G A SNP ENSG00000262772 ENST00000576963 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-353N14.2 Clone_based_vega_gene ENSG00000263888 0 genome.wustl.edu 37 8 92151670 92151671 + RNA INS - - TTT TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 8 92151670 92151671 - TTT INS ENSG00000263888 ENST00000582630 human ensembl 70_37 +1 novel rna NULL NULL 0.153:0.158 - - - no_errors Metazoa_SRP RFAM ENSG00000264212 0 genome.wustl.edu 37 18 73970021 73970021 + RNA SNP A A C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 18 73970021 73970021 A C SNP ENSG00000264212 ENST00000579833 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-94B19.3 Clone_based_vega_gene ENSG00000266343 0 genome.wustl.edu 37 14 91614551 91614552 + RNA INS - - T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 14 91614551 91614552 - T INS ENSG00000266343 ENST00000583824 human ensembl 70_37 +1 novel rna NULL NULL 0.726:0.595 - - - no_errors Metazoa_SRP RFAM ENSG00000267163 0 genome.wustl.edu 37 19 44603857 44603858 + RNA INS - - A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 44603857 44603858 - A INS ENSG00000267163 ENST00000591772 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors AC084219.3 Clone_based_vega_gene ENSG00000267604 0 genome.wustl.edu 37 17 41860184 41860184 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 17 41860184 41860184 G A SNP ENSG00000267604 ENST00000591540 human ensembl 70_37 -1 known rna NULL NULL 0.025 - - - no_errors RP5-905N1.2 Clone_based_vega_gene ENSG00000268364 0 genome.wustl.edu 37 9 72808941 72808941 + RNA SNP G G T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 9 72808941 72808941 G T SNP ENSG00000268364 ENST00000594708 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-373A9.3 Clone_based_vega_gene ENSG00000268734 0 genome.wustl.edu 37 19 55402767 55402768 + RNA INS - - A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 55402767 55402768 - A INS ENSG00000268734 ENST00000594721 human ensembl 70_37 +1 known rna NULL NULL 0.843:0.928 - - - no_errors CTB-61M7.2 Clone_based_vega_gene ENSG00000269737 0 genome.wustl.edu 37 1 1604282 1604282 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 1604282 1604282 C T SNP ENSG00000269737 ENST00000596308 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-345P4.7 Clone_based_vega_gene EP300 2033 genome.wustl.edu 37 22 41565529 41565529 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 22 41565529 41565529 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.4195 p.D1399N 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC EP300 2033 genome.wustl.edu 37 22 41565529 41565529 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 22 41565529 41565529 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.4195 p.D1399N 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC EPB41 2035 genome.wustl.edu 37 1 29314294 29314294 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 29314294 29314294 G A SNP EPB41 ENST00000343067 human ensembl 70_37 +1 known silent c.345 p.E115 0.082 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41 HGNC EPB41 2035 genome.wustl.edu 37 1 29314294 29314294 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 29314294 29314294 G A SNP EPB41 ENST00000343067 human ensembl 70_37 +1 known silent c.345 p.E115 0.082 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41 HGNC EYS 346007 genome.wustl.edu 37 6 66044995 66044998 + Frame_Shift_Del DEL CTGA CTGA - TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 CTGA CTGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 6 66044995 66044998 CTGA - DEL EYS ENST00000370616 human ensembl 70_37 -1 known frame_shift_del c.1644_1641 p.S547fs 0.000:0.000:0.000:0.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC FAM86B2 653333 genome.wustl.edu 37 8 12286158 12286158 + Missense_Mutation SNP A A T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 8 12286158 12286158 A T SNP FAM86B2 ENST00000262365 human ensembl 70_37 -1 known missense c.726 p.D242E 0.361 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors FAM86B2 HGNC FLJ42627 645644 genome.wustl.edu 37 16 2613067 2613067 + RNA SNP T T C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 16 2613067 2613067 T C SNP FLJ42627 ENST00000569852 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-20I23.8 Clone_based_vega_gene FOXD4L1 200350 genome.wustl.edu 37 2 114257595 114257595 + Silent SNP C C G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 114257595 114257595 C G SNP FOXD4L1 ENST00000306507 human ensembl 70_37 +1 known silent c.762 p.P254 0.866 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC FOXD4L1 200350 genome.wustl.edu 37 2 114257610 114257610 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 114257610 114257610 C T SNP FOXD4L1 ENST00000306507 human ensembl 70_37 +1 known silent c.777 p.Y259 0.923 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC GAB1 2549 genome.wustl.edu 37 4 144359596 144359596 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 4 144359596 144359596 G A SNP GAB1 ENST00000262995 human ensembl 70_37 +1 known silent c.1038 p.P346 0.292 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB1 HGNC GAB1 2549 genome.wustl.edu 37 4 144359596 144359596 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 4 144359596 144359596 G A SNP GAB1 ENST00000262995 human ensembl 70_37 +1 known silent c.1038 p.P346 0.292 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB1 HGNC GADL1 339896 genome.wustl.edu 37 3 30820211 30820212 + RNA INS - - T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 3 30820211 30820212 - T INS GADL1 ENST00000498387 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors GADL1 HGNC GALNT8 26290 genome.wustl.edu 37 12 4870147 4870147 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 12 4870147 4870147 C T SNP GALNT8 ENST00000252318 human ensembl 70_37 +1 known silent c.1197 p.V399 0.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC GALNT8 26290 genome.wustl.edu 37 12 4870147 4870147 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 12 4870147 4870147 C T SNP GALNT8 ENST00000252318 human ensembl 70_37 +1 known silent c.1197 p.V399 0.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC GALNTL6 442117 genome.wustl.edu 37 4 172734709 172734709 + RNA SNP T T A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 4 172734709 172734709 T A SNP GALNTL6 ENST00000504379 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GALNTL6 HGNC GOLPH3 64083 genome.wustl.edu 37 5 32136351 32136351 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 5 32136351 32136351 C T SNP GOLPH3 ENST00000499354 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors GOLPH3 HGNC GRIK3 2899 genome.wustl.edu 37 1 37270815 37270815 + Missense_Mutation SNP T T A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 37270815 37270815 T A SNP GRIK3 ENST00000373091 human ensembl 70_37 -1 known missense c.2338 p.T780S 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC GRIK3 2899 genome.wustl.edu 37 1 37270815 37270815 + Missense_Mutation SNP T T A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 37270815 37270815 T A SNP GRIK3 ENST00000373091 human ensembl 70_37 -1 known missense c.2338 p.T780S 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC HLA-DMB 3109 genome.wustl.edu 37 6 32905075 32905075 + Missense_Mutation SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 6 32905075 32905075 C A SNP HLA-DMB ENST00000418107 human ensembl 70_37 -1 known missense c.496 p.A166S 0.001 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DMB HGNC HLA-DMB 3109 genome.wustl.edu 37 6 32905075 32905075 + Missense_Mutation SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 6 32905075 32905075 C A SNP HLA-DMB ENST00000418107 human ensembl 70_37 -1 known missense c.496 p.A166S 0.001 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DMB HGNC ITPK1-AS1 319085 genome.wustl.edu 37 14 93538192 93538193 + RNA INS - - T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 14 93538192 93538193 - T INS ITPK1-AS1 ENST00000553639 human ensembl 70_37 +1 known rna NULL NULL 0.003:0.005 - - - no_errors ITPK1-AS1 HGNC KCNG1 3755 genome.wustl.edu 37 20 49626346 49626346 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 20 49626346 49626346 G A SNP KCNG1 ENST00000371571 human ensembl 70_37 -1 known missense c.530 p.A177V 0.997 superfamily_BTB/POZ_fold pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC KCNG1 3755 genome.wustl.edu 37 20 49626346 49626346 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 20 49626346 49626346 G A SNP KCNG1 ENST00000371571 human ensembl 70_37 -1 known missense c.530 p.A177V 0.997 superfamily_BTB/POZ_fold pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC KLHDC7B 113730 genome.wustl.edu 37 22 50987890 50987890 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 22 50987890 50987890 C T SNP KLHDC7B ENST00000395676 human ensembl 70_37 +1 known missense c.1295 p.A432V 0.986 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC KLHDC7B 113730 genome.wustl.edu 37 22 50987890 50987890 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 22 50987890 50987890 C T SNP KLHDC7B ENST00000395676 human ensembl 70_37 +1 known missense c.1295 p.A432V 0.986 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC KPNA5 3841 genome.wustl.edu 37 6 117053428 117053428 + Missense_Mutation SNP A A T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 6 117053428 117053428 A T SNP KPNA5 ENST00000356348 human ensembl 70_37 +1 known missense c.1562 p.N521I 0.939 NULL pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA5 HGNC KRTAP5-3 387266 genome.wustl.edu 37 11 1629043 1629043 + Silent SNP T T C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 11 1629043 1629043 T C SNP KRTAP5-3 ENST00000399685 human ensembl 70_37 -1 known silent c.573 p.K191 0.000 NULL NULL - no_errors KRTAP5-3 HGNC L3MBTL3 84456 genome.wustl.edu 37 6 130399706 130399706 + Silent SNP T T C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 6 130399706 130399706 T C SNP L3MBTL3 ENST00000361794 human ensembl 70_37 +1 known silent c.1248 p.C416 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC LAMTOR5-AS1 101410535 genome.wustl.edu 37 1 110968536 110968536 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 110968536 110968536 C T SNP LAMTOR5-AS1 ENST00000596890 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LAMTOR5-AS1 HGNC LDB3 11155 genome.wustl.edu 37 10 88494845 88494845 + RNA SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 10 88494845 88494845 C A SNP LDB3 ENST00000480727 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LDB3 HGNC LILRB5 10990 genome.wustl.edu 37 19 54754838 54754839 + Frame_Shift_Ins INS - - G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 54754838 54754839 - G INS LILRB5 ENST00000450632 human ensembl 70_37 -1 known frame_shift_ins c.1797_1796 p.P600fs 0.001:0.329 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB5 HGNC LINC00086 399668 genome.wustl.edu 37 X 134556390 134556390 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 134556390 134556390 C T SNP LINC00086 ENST00000417443 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00086 HGNC LINC00479 150135 genome.wustl.edu 37 21 43132708 43132708 + RNA SNP G G C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 21 43132708 43132708 G C SNP LINC00479 ENST00000412102 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00479 HGNC LINC00520 645687 genome.wustl.edu 37 14 56259940 56259941 + RNA INS - - A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 14 56259940 56259941 - A INS LINC00520 ENST00000554186 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors LINC00520 HGNC LINC00665 100506930 genome.wustl.edu 37 19 36806927 36806927 + RNA SNP T T C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 36806927 36806927 T C SNP LINC00665 ENST00000412740 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00665 HGNC LNPEP 4012 genome.wustl.edu 37 5 96322254 96322254 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 5 96322254 96322254 C T SNP LNPEP ENST00000231368 human ensembl 70_37 +1 known silent c.1011 p.V337 0.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC LNPEP 4012 genome.wustl.edu 37 5 96322254 96322254 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 5 96322254 96322254 C T SNP LNPEP ENST00000231368 human ensembl 70_37 +1 known silent c.1011 p.V337 0.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC LOC100133091 100133091 genome.wustl.edu 37 7 76255948 76255948 + RNA SNP A A T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 7 76255948 76255948 A T SNP LOC100133091 ENST00000418663 human ensembl 70_37 +1 known rna NULL NULL 0.033 - - - no_errors AC004980.7 Clone_based_vega_gene LOC100507334 100507334 genome.wustl.edu 37 2 110742222 110742222 + RNA SNP A A G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 110742222 110742222 A G SNP LOC100507334 ENST00000454928 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC013271.3 Clone_based_vega_gene LOC101060462 101060462 genome.wustl.edu 37 10 47151670 47151670 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 10 47151670 47151670 C T SNP LOC101060462 ENST00000319426 human ensembl 70_37 -1 known missense c.179 p.G60D 0.001 NULL NULL - no_errors AL391137.1 Clone_based_ensembl_gene LOC339803 339803 genome.wustl.edu 37 2 61369385 61369385 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 61369385 61369385 C T SNP LOC339803 ENST00000420918 human ensembl 70_37 -1 known rna NULL NULL 0.171 - - - no_errors AC016747.3 Clone_based_vega_gene LOC339803 339803 genome.wustl.edu 37 2 61370117 61370117 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 61370117 61370117 C T SNP LOC339803 ENST00000420918 human ensembl 70_37 -1 known rna NULL NULL 0.659 - - - no_errors AC016747.3 Clone_based_vega_gene LOC339803 339803 genome.wustl.edu 37 2 61370430 61370430 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 61370430 61370430 C T SNP LOC339803 ENST00000420918 human ensembl 70_37 -1 known rna NULL NULL 0.075 - - - no_errors AC016747.3 Clone_based_vega_gene LOC440910 440910 genome.wustl.edu 37 2 132054516 132054516 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 132054516 132054516 G A SNP LOC440910 ENST00000560285 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC131180.4 Clone_based_vega_gene LOC440910 440910 genome.wustl.edu 37 2 132055839 132055839 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 132055839 132055839 C T SNP LOC440910 ENST00000560285 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC131180.4 Clone_based_vega_gene LOC440993 440993 genome.wustl.edu 37 3 195404651 195404651 + RNA SNP C C G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 3 195404651 195404651 C G SNP LOC440993 ENST00000414625 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC069513.3 Clone_based_vega_gene LOC642929 642929 genome.wustl.edu 37 9 43140695 43140695 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 9 43140695 43140695 C T SNP LOC642929 ENST00000453939 human ensembl 70_37 -1 known rna NULL NULL 0.106 - - - no_errors RP11-327I22.6 Clone_based_vega_gene LRRN4CL 221091 genome.wustl.edu 37 11 62455621 62455621 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 11 62455621 62455621 G A SNP LRRN4CL ENST00000317449 human ensembl 70_37 -1 known silent c.360 p.D120 0.793 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4CL HGNC LRRN4CL 221091 genome.wustl.edu 37 11 62455621 62455621 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 11 62455621 62455621 G A SNP LRRN4CL ENST00000317449 human ensembl 70_37 -1 known silent c.360 p.D120 0.793 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4CL HGNC MAGED1 9500 genome.wustl.edu 37 X 51642270 51642270 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 51642270 51642270 G A SNP MAGED1 ENST00000494718 human ensembl 70_37 +1 known rna NULL NULL 0.035 - - - no_errors MAGED1 HGNC MAPK8IP3 23162 genome.wustl.edu 37 16 1810463 1810463 + Silent SNP T T C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 16 1810463 1810463 T C SNP MAPK8IP3 ENST00000250894 human ensembl 70_37 +1 known silent c.1384 p.L462 0.997 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC MAPK8IP3 23162 genome.wustl.edu 37 16 1810463 1810463 + Silent SNP T T C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 16 1810463 1810463 T C SNP MAPK8IP3 ENST00000250894 human ensembl 70_37 +1 known silent c.1384 p.L462 0.997 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC MARVELD3 91862 genome.wustl.edu 37 16 71675964 71675964 + RNA SNP G G C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 16 71675964 71675964 G C SNP MARVELD3 ENST00000561682 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MARVELD3 HGNC MBD3L1 85509 genome.wustl.edu 37 19 8953854 8953854 + Missense_Mutation SNP G G C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 8953854 8953854 G C SNP MBD3L1 ENST00000305625 human ensembl 70_37 +1 known missense c.500 p.R167T 0.787 NULL NULL - no_errors MBD3L1 HGNC MBD3L1 85509 genome.wustl.edu 37 19 8953854 8953854 + Missense_Mutation SNP G G C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 8953854 8953854 G C SNP MBD3L1 ENST00000305625 human ensembl 70_37 +1 known missense c.500 p.R167T 0.787 NULL NULL - no_errors MBD3L1 HGNC MIPOL1 145282 genome.wustl.edu 37 14 37854916 37854916 + RNA SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 14 37854916 37854916 C A SNP MIPOL1 ENST00000554930 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MIPOL1 HGNC MIPOL1 145282 genome.wustl.edu 37 14 37854919 37854920 + RNA INS - - A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 14 37854919 37854920 - A INS MIPOL1 ENST00000554930 human ensembl 70_37 +1 known rna NULL NULL 0.227:0.224 - - - no_errors MIPOL1 HGNC MIR205HG 642587 genome.wustl.edu 37 1 209605636 209605637 + RNA INS - - AGC TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 209605636 209605637 - AGC INS MIR205HG ENST00000366437 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors MIR205HG HGNC MST1 4485 genome.wustl.edu 37 3 49722905 49722906 + Frame_Shift_Ins INS - - G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 3 49722905 49722906 - G INS MST1 ENST00000449682 human ensembl 70_37 -1 known frame_shift_ins c.1422_1421 p.D475fs 0.996:0.969 superfamily_Kringle-like pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MST1 HGNC MUC12 10071 genome.wustl.edu 37 7 100646140 100646140 + Missense_Mutation SNP T T C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 7 100646140 100646140 T C SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.12725 p.V4242A 0.000 NULL pfam_SEA - no_errors MUC12 HGNC MUC15 143662 genome.wustl.edu 37 11 26587073 26587074 + Frame_Shift_Ins INS - - T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 11 26587073 26587074 - T INS MUC15 ENST00000436318 human ensembl 70_37 -1 known frame_shift_ins c.414_413 p.I140fs 0.000:0.038 NULL NULL - no_errors MUC15 HGNC MUC4 4585 genome.wustl.edu 37 3 195513382 195513383 + Frame_Shift_Ins INS - - A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 3 195513382 195513383 - A INS MUC4 ENST00000463781 human ensembl 70_37 -1 known frame_shift_ins c.5069_5068 p.T1690fs 0.251:0.029 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC NBPF15 284565 genome.wustl.edu 37 1 148594456 148594456 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 148594456 148594456 G A SNP NBPF15 ENST00000369187 human ensembl 70_37 +1 known missense c.1829 p.R610K 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF15 HGNC NBPF15 284565 genome.wustl.edu 37 1 148594456 148594456 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 148594456 148594456 G A SNP NBPF15 ENST00000369187 human ensembl 70_37 +1 known missense c.1829 p.R610K 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF15 HGNC NOTCH2 4853 genome.wustl.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 120612003 120612004 GG - DEL NOTCH2 ENST00000256646 human ensembl 70_37 -1 known frame_shift_del c.18_17 p.P6fs 0.101:0.700 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC PASD1 139135 genome.wustl.edu 37 X 150841059 150841059 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 150841059 150841059 G A SNP PASD1 ENST00000370357 human ensembl 70_37 +1 known silent c.1842 p.Q614 0.000 NULL smart_PAS,pfscan_PAS - no_errors PASD1 HGNC PASD1 139135 genome.wustl.edu 37 X 150841059 150841059 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 150841059 150841059 G A SNP PASD1 ENST00000370357 human ensembl 70_37 +1 known silent c.1842 p.Q614 0.000 NULL smart_PAS,pfscan_PAS - no_errors PASD1 HGNC PCBP1-AS1 400960 genome.wustl.edu 37 2 70314461 70314462 + RNA INS - - T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 70314461 70314462 - T INS PCBP1-AS1 ENST00000413791 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors PCBP1-AS1 HGNC PCDHA8 56140 genome.wustl.edu 37 5 140222139 140222139 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 5 140222139 140222139 C T SNP PCDHA8 ENST00000531613 human ensembl 70_37 +1 known silent c.1233 p.S411 0.000 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 PCDHA8 HGNC PCDHB16 57717 genome.wustl.edu 37 5 140563728 140563728 + Missense_Mutation SNP A A G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 5 140563728 140563728 A G SNP PCDHB16 ENST00000361016 human ensembl 70_37 +1 known missense c.1594 p.S532G 0.015 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC PDE1C 5137 genome.wustl.edu 37 7 32209496 32209496 + Missense_Mutation SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 7 32209496 32209496 C A SNP PDE1C ENST00000396193 human ensembl 70_37 -1 novel missense c.209 p.R70M 0.999 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC PDE4DIP 9659 genome.wustl.edu 37 1 144891398 144891398 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 144891398 144891398 C T SNP PDE4DIP ENST00000467859 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PDE4DIP HGNC PHF6 84295 genome.wustl.edu 37 X 133549136 133549136 + Nonsense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 133549136 133549136 C T SNP PHF6 ENST00000394292 human ensembl 70_37 +1 known nonsense c.823 p.R275* 1.000 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF6 HGNC PIK3C2B 5287 genome.wustl.edu 37 1 204408075 204408075 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 204408075 204408075 G A SNP PIK3C2B ENST00000367187 human ensembl 70_37 -1 known silent c.3504 p.D1168 0.317 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC PLEKHM2 23207 genome.wustl.edu 37 1 16044409 16044409 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 16044409 16044409 C T SNP PLEKHM2 ENST00000375799 human ensembl 70_37 +1 known missense c.299 p.A100V 1.000 pfam_Run,smart_Run,pfscan_Run pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC PLEKHM2 23207 genome.wustl.edu 37 1 16044409 16044409 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 16044409 16044409 C T SNP PLEKHM2 ENST00000375799 human ensembl 70_37 +1 known missense c.299 p.A100V 1.000 pfam_Run,smart_Run,pfscan_Run pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC PLEKHM3 389072 genome.wustl.edu 37 2 208865987 208865987 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 208865987 208865987 C T SNP PLEKHM3 ENST00000427836 human ensembl 70_37 -1 known missense c.377 p.R126Q 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHM3 HGNC PLEKHM3 389072 genome.wustl.edu 37 2 208865987 208865987 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 208865987 208865987 C T SNP PLEKHM3 ENST00000427836 human ensembl 70_37 -1 known missense c.377 p.R126Q 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHM3 HGNC PLXNA3 55558 genome.wustl.edu 37 X 153693147 153693147 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 153693147 153693147 G A SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.1979 p.R660H 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC PLXNA3 55558 genome.wustl.edu 37 X 153693147 153693147 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 153693147 153693147 G A SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.1979 p.R660H 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC POTEF 728378 genome.wustl.edu 37 2 130877709 130877709 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 130877709 130877709 G A SNP POTEF ENST00000357462 human ensembl 70_37 -1 known missense c.380 p.A127V 0.000 NULL pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEF HGNC PRADC1 84279 genome.wustl.edu 37 2 73456064 73456064 + Missense_Mutation SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 73456064 73456064 C A SNP PRADC1 ENST00000258083 human ensembl 70_37 -1 known missense c.305 p.R102L 0.988 pfam_Protease-assoc_domain pfam_Protease-assoc_domain - no_errors PRADC1 HGNC PSD4 23550 genome.wustl.edu 37 2 113955395 113955395 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 113955395 113955395 C T SNP PSD4 ENST00000245796 human ensembl 70_37 +1 known silent c.2529 p.H843 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC PSD4 23550 genome.wustl.edu 37 2 113955395 113955395 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 2 113955395 113955395 C T SNP PSD4 ENST00000245796 human ensembl 70_37 +1 known silent c.2529 p.H843 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC PTPN12 5782 genome.wustl.edu 37 7 77267950 77267950 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 7 77267950 77267950 C T SNP PTPN12 ENST00000248594 human ensembl 70_37 +1 known missense c.2183 p.A728V 0.009 pirsf_Tyr_Pase_non-rcpt_typ-12 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC PTPN12 5782 genome.wustl.edu 37 7 77267950 77267950 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 7 77267950 77267950 C T SNP PTPN12 ENST00000248594 human ensembl 70_37 +1 known missense c.2183 p.A728V 0.009 pirsf_Tyr_Pase_non-rcpt_typ-12 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC PTPRZ1 5803 genome.wustl.edu 37 7 121513405 121513405 + RNA SNP A A C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 7 121513405 121513405 A C SNP PTPRZ1 ENST00000471837 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors PTPRZ1 HGNC RECK 8434 genome.wustl.edu 37 9 36117064 36117064 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 9 36117064 36117064 G A SNP RECK ENST00000377966 human ensembl 70_37 +1 known missense c.2143 p.A715T 0.030 smart_Prot_inh_Kazal pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Prot_inh_PMP,smart_Prot_inh_Kazal - no_errors RECK HGNC RECK 8434 genome.wustl.edu 37 9 36117064 36117064 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 9 36117064 36117064 G A SNP RECK ENST00000377966 human ensembl 70_37 +1 known missense c.2143 p.A715T 0.030 smart_Prot_inh_Kazal pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Prot_inh_PMP,smart_Prot_inh_Kazal - no_errors RECK HGNC RGP1 9827 genome.wustl.edu 37 9 35752745 35752745 + Nonsense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 9 35752745 35752745 G A SNP RGP1 ENST00000456972 human ensembl 70_37 +1 known nonsense c.1170 p.W390* 1.000 NULL pfam_Rgp1 - no_errors RGP1 HGNC RGP1 9827 genome.wustl.edu 37 9 35752745 35752745 + Nonsense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 9 35752745 35752745 G A SNP RGP1 ENST00000456972 human ensembl 70_37 +1 known nonsense c.1170 p.W390* 1.000 NULL pfam_Rgp1 - no_errors RGP1 HGNC RNA5SP174 0 genome.wustl.edu 37 4 190936378 190936379 + RNA INS - - A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 4 190936378 190936379 - A INS RNA5SP174 ENST00000362702 human ensembl 70_37 +1 known rna NULL NULL 0.177:0.178 - - - no_errors RNA5SP174 HGNC RRNAD1 51093 genome.wustl.edu 37 1 156706166 156706166 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 156706166 156706166 C T SNP RRNAD1 ENST00000481920 human ensembl 70_37 +1 putative rna NULL NULL 0.004 - - - no_errors RRNAD1 HGNC SEC61A2 55176 genome.wustl.edu 37 10 12198972 12198972 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 10 12198972 12198972 G A SNP SEC61A2 ENST00000298428 human ensembl 70_37 +1 known missense c.683 p.R228Q 1.000 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A2 HGNC SEC61A2 55176 genome.wustl.edu 37 10 12198972 12198972 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 10 12198972 12198972 G A SNP SEC61A2 ENST00000298428 human ensembl 70_37 +1 known missense c.683 p.R228Q 1.000 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A2 HGNC SECISBP2 79048 genome.wustl.edu 37 9 91939384 91939384 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 9 91939384 91939384 C T SNP SECISBP2 ENST00000470305 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors SECISBP2 HGNC SEZ6L 23544 genome.wustl.edu 37 22 26565671 26565671 + Silent SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 22 26565671 26565671 C T SNP SEZ6L ENST00000248933 human ensembl 70_37 +1 known silent c.36 p.R12 0.066 NULL pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC SLC25A1 6576 genome.wustl.edu 37 22 19165323 19165323 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 22 19165323 19165323 C T SNP SLC25A1 ENST00000215882 human ensembl 70_37 -1 known missense c.358 p.D120N 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A1 HGNC SLC25A1 6576 genome.wustl.edu 37 22 19165323 19165323 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 22 19165323 19165323 C T SNP SLC25A1 ENST00000215882 human ensembl 70_37 -1 known missense c.358 p.D120N 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A1 HGNC SNHG16 100507246 genome.wustl.edu 37 17 74554514 74554514 + RNA SNP G G T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 17 74554514 74554514 G T SNP SNHG16 ENST00000586846 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG16 HGNC SNORD3B-1 26851 genome.wustl.edu 37 17 18965389 18965389 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 17 18965389 18965389 C T SNP SNORD3B-1 ENST00000363359 human ensembl 70_37 +1 known rna NULL NULL 0.075 - - - no_errors SNORD3B-1 HGNC SNORD3B-1 26851 genome.wustl.edu 37 17 18965389 18965389 + RNA SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 17 18965389 18965389 C T SNP SNORD3B-1 ENST00000363359 human ensembl 70_37 +1 known rna NULL NULL 0.075 - - - no_errors SNORD3B-1 HGNC SNORD3D 780854 genome.wustl.edu 37 17 19015785 19015785 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 17 19015785 19015785 G A SNP SNORD3D ENST00000362793 human ensembl 70_37 -1 known rna NULL NULL 0.037 - - - no_errors SNORD3D HGNC TBC1D10C 374403 genome.wustl.edu 37 11 67177148 67177149 + Frame_Shift_Ins INS - - G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 11 67177148 67177149 - G INS TBC1D10C ENST00000312390 human ensembl 70_37 +1 known frame_shift_ins c.1264_1265 p.A423fs 0.951:0.936 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10C HGNC TENM4 26011 genome.wustl.edu 37 11 79151904 79151905 + RNA INS - - GT TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 11 79151904 79151905 - GT INS TENM4 ENST00000531583 human ensembl 70_37 -1 known rna NULL NULL 0.072:0.244 - - - no_errors TENM4 HGNC TMCO6 55374 genome.wustl.edu 37 5 140021374 140021374 + Frame_Shift_Del DEL G G - TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 5 140021374 140021374 G - DEL TMCO6 ENST00000511410 human ensembl 70_37 +1 putative frame_shift_del c.323 p.W108fs 0.005 NULL superfamily_ARM-type_fold,pfscan_Importin-a_IBB - no_errors TMCO6 HGNC TMEM132E 124842 genome.wustl.edu 37 17 32956104 32956104 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 17 32956104 32956104 C T SNP TMEM132E ENST00000321639 human ensembl 70_37 +1 known missense c.949 p.R317W 1.000 NULL NULL - no_errors TMEM132E HGNC TMEM132E 124842 genome.wustl.edu 37 17 32956104 32956104 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 17 32956104 32956104 C T SNP TMEM132E ENST00000321639 human ensembl 70_37 +1 known missense c.949 p.R317W 1.000 NULL NULL - no_errors TMEM132E HGNC TMLHE 55217 genome.wustl.edu 37 X 154842494 154842494 + RNA SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 X 154842494 154842494 G A SNP TMLHE ENST00000461075 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TMLHE HGNC TOPORS-AS1 100129250 genome.wustl.edu 37 9 32551295 32551295 + RNA SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 9 32551295 32551295 C A SNP TOPORS-AS1 ENST00000453396 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TOPORS-AS1 HGNC TP73-AS1 57212 genome.wustl.edu 37 1 3653920 3653920 + RNA SNP T T C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 3653920 3653920 T C SNP TP73-AS1 ENST00000418088 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TP73-AS1 HGNC TPR 7175 genome.wustl.edu 37 1 186295304 186295304 + Missense_Mutation SNP C C A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 186295304 186295304 C A SNP TPR ENST00000367478 human ensembl 70_37 -1 known missense c.5953 p.G1985C 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC TTC3 7267 genome.wustl.edu 37 21 38445615 38445616 + RNA INS - - GCT TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 21 38445615 38445616 - GCT INS TTC3 ENST00000463216 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors TTC3 HGNC VPS13D 55187 genome.wustl.edu 37 1 12570579 12570580 + RNA INS - - TG TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 12570579 12570580 - TG INS VPS13D ENST00000496628 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors VPS13D HGNC VSTM1 284415 genome.wustl.edu 37 19 54551654 54551654 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 54551654 54551654 G A SNP VSTM1 ENST00000425006 human ensembl 70_37 -1 known missense c.398 p.A133V 0.011 NULL smart_Ig_sub,pfscan_Ig-like - no_errors VSTM1 HGNC WDR7 23335 genome.wustl.edu 37 18 54605881 54605881 + Missense_Mutation SNP A A G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 18 54605881 54605881 A G SNP WDR7 ENST00000254442 human ensembl 70_37 +1 known missense c.3949 p.M1317V 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC WDR7 23335 genome.wustl.edu 37 18 54605881 54605881 + Missense_Mutation SNP A A G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 18 54605881 54605881 A G SNP WDR7 ENST00000254442 human ensembl 70_37 +1 known missense c.3949 p.M1317V 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC XYLB 9942 genome.wustl.edu 37 3 38411732 38411733 + RNA DEL CA CA - TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 3 38411732 38411733 CA - DEL XYLB ENST00000487569 human ensembl 70_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors XYLB HGNC ZDHHC11B 653082 genome.wustl.edu 37 5 712139 712139 + RNA SNP T T A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 5 712139 712139 T A SNP ZDHHC11B ENST00000522356 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZDHHC11B HGNC ZMYM1 79830 genome.wustl.edu 37 1 35579239 35579239 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 35579239 35579239 G A SNP ZMYM1 ENST00000359858 human ensembl 70_37 +1 known missense c.1808 p.R603Q 0.018 NULL pfam_Znf_MYM,pfam_HATC,superfamily_RNaseH-like_dom,smart_TRASH - no_errors ZMYM1 HGNC ZMYM1 79830 genome.wustl.edu 37 1 35579239 35579239 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 1 35579239 35579239 G A SNP ZMYM1 ENST00000359858 human ensembl 70_37 +1 known missense c.1808 p.R603Q 0.018 NULL pfam_Znf_MYM,pfam_HATC,superfamily_RNaseH-like_dom,smart_TRASH - no_errors ZMYM1 HGNC ZNF202 7753 genome.wustl.edu 37 11 123611150 123611150 + RNA SNP A A G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 11 123611150 123611150 A G SNP ZNF202 ENST00000525391 human ensembl 70_37 -1 known rna NULL NULL 0.171 - - - no_errors ZNF202 HGNC ZNF33A 7581 genome.wustl.edu 37 10 38343652 38343652 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 10 38343652 38343652 G A SNP ZNF33A ENST00000432900 human ensembl 70_37 +1 known silent c.618 p.L206 0.000 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 ZNF33A HGNC ZNF33A 7581 genome.wustl.edu 37 10 38343652 38343652 + Silent SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 10 38343652 38343652 G A SNP ZNF33A ENST00000432900 human ensembl 70_37 +1 known silent c.618 p.L206 0.000 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 ZNF33A HGNC ZNF33A 7581 genome.wustl.edu 37 10 38343662 38343662 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 10 38343662 38343662 G A SNP ZNF33A ENST00000432900 human ensembl 70_37 +1 known missense c.628 p.E210K 0.005 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 ZNF33A HGNC ZNF33A 7581 genome.wustl.edu 37 10 38343662 38343662 + Missense_Mutation SNP G G A TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 10 38343662 38343662 G A SNP ZNF33A ENST00000432900 human ensembl 70_37 +1 known missense c.628 p.E210K 0.005 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 ZNF33A HGNC ZNF493 284443 genome.wustl.edu 37 19 21607379 21607379 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 21607379 21607379 C T SNP ZNF493 ENST00000355504 human ensembl 70_37 +1 known missense c.1534 p.R512W 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ZNF493 284443 genome.wustl.edu 37 19 21607379 21607379 + Missense_Mutation SNP C C T TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 21607379 21607379 C T SNP ZNF493 ENST00000355504 human ensembl 70_37 +1 known missense c.1534 p.R512W 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ZNF765 91661 genome.wustl.edu 37 19 53926416 53926416 + Missense_Mutation SNP C C G TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 679411e8-ac8e-4d12-b15d-a2a3fac880c8 0a3a2d94-7e83-40a5-af85-0f76840a3037 19 53926416 53926416 C G SNP ZNF765 ENST00000507045 human ensembl 70_37 +1 known missense c.117 p.N39K 0.003 NULL NULL - no_errors ZNF765 HGNC