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 ADAM6 8755 genome.wustl.edu 37 14 106436535 106436535 + RNA SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 14 106436535 106436535 G A SNP ADAM6 ENST00000452053 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ADAM6 HGNC ADAMTS20 80070 genome.wustl.edu 37 12 43822200 43822200 + Nonsense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 43822200 43822200 G T SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known nonsense c.3789 p.C1263* 0.998 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC AGRN 375790 genome.wustl.edu 37 1 980904 980907 + Splice_Site DEL GTGA GTGA - TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 GTGA GTGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 980904 980907 GTGA - DEL AGRN ENST00000379370 human ensembl 70_37 +1 known splice_site_del c.2536+1_2536+1 e14+1 1.000:1.000:1.000:1.000 - - - no_errors AGRN HGNC ALPK2 115701 genome.wustl.edu 37 18 56202143 56202143 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 56202143 56202143 G T SNP ALPK2 ENST00000361673 human ensembl 70_37 -1 known missense c.5276 p.P1759H 0.611 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK2 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9255339 9255339 + Missense_Mutation SNP G G C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255339 9255339 G C SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2074 p.D692H 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9255384 9255384 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255384 9255384 G A SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2119 p.E707K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9255387 9255387 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255387 9255387 G A SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2122 p.D708N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9255389 9255389 + Missense_Mutation SNP T T A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255389 9255389 T A SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2124 p.D708E 0.918 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9255426 9255426 + Missense_Mutation SNP G G C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255426 9255426 G C SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2161 p.E721Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9255435 9255435 + Missense_Mutation SNP T T A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255435 9255435 T A SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2170 p.S724T 0.374 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9255588 9255588 + Missense_Mutation SNP G G C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255588 9255588 G C SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2323 p.E775Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9255690 9255690 + Nonsense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255690 9255690 G T SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known nonsense c.2425 p.E809* 0.998 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9255795 9255795 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255795 9255795 G A SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2530 p.E844K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9255813 9255813 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255813 9255813 G A SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2548 p.E850K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9255831 9255831 + Missense_Mutation SNP G G C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255831 9255831 G C SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2566 p.D856H 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9255921 9255921 + Missense_Mutation SNP G G C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 9255921 9255921 G C SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2656 p.E886Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ARFGEF1 10565 genome.wustl.edu 37 8 68150647 68150647 + Silent SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 8 68150647 68150647 G T SNP ARFGEF1 ENST00000262215 human ensembl 70_37 -1 known silent c.3220 p.R1074 0.993 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ARID1A 8289 genome.wustl.edu 37 1 27088756 27088756 + Nonsense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 27088756 27088756 C T SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known nonsense c.2365 p.Q789* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ATRX 546 genome.wustl.edu 37 X 76763049 76763049 + RNA SNP T T A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b X 76763049 76763049 T A SNP ATRX ENST00000480283 human ensembl 70_37 -1 known rna NULL NULL 0.674 - - - no_errors ATRX HGNC BAI3 577 genome.wustl.edu 37 6 70034857 70034857 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 6 70034857 70034857 G A SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known missense c.2908 p.V970I 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC BEAN1 146227 genome.wustl.edu 37 16 66526895 66526895 + Nonsense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 16 66526895 66526895 C T SNP BEAN1 ENST00000561796 human ensembl 70_37 +1 novel nonsense c.178 p.R60* 0.056 NULL NULL - no_errors BEAN1 HGNC C12orf54 121273 genome.wustl.edu 37 12 48882278 48882279 + RNA INS - - AC TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 48882278 48882279 - AC INS C12orf54 ENST00000548913 human ensembl 70_37 +1 known rna NULL NULL 0.033:0.007 - - - no_errors C12orf54 HGNC C6orf165 154313 genome.wustl.edu 37 6 88138520 88138520 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 6 88138520 88138520 G A SNP C6orf165 ENST00000369562 human ensembl 70_37 +1 known silent c.1137 p.V379 0.000 pfam_DUF3508 pfam_DUF3508 - no_errors C6orf165 HGNC C9orf114 51490 genome.wustl.edu 37 9 131592044 131592044 + Missense_Mutation SNP T T A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 9 131592044 131592044 T A SNP C9orf114 ENST00000361256 human ensembl 70_37 -1 known missense c.16 p.R6W 0.000 NULL pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like - no_errors C9orf114 HGNC CAPN6 827 genome.wustl.edu 37 X 110496436 110496436 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b X 110496436 110496436 G A SNP CAPN6 ENST00000324068 human ensembl 70_37 -1 known silent c.306 p.P102 0.501 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC CASZ1 54897 genome.wustl.edu 37 1 10699830 10699830 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 10699830 10699830 G A SNP CASZ1 ENST00000377022 human ensembl 70_37 -1 known silent c.4449 p.R1483 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC CCBL2 56267 genome.wustl.edu 37 1 89430628 89430628 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 89430628 89430628 G A SNP CCBL2 ENST00000260508 human ensembl 70_37 -1 known silent c.337 p.L113 0.980 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors CCBL2 HGNC CCDC137 339230 genome.wustl.edu 37 17 79634867 79634867 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 17 79634867 79634867 C T SNP CCDC137 ENST00000329214 human ensembl 70_37 +1 known silent c.243 p.I81 0.742 NULL NULL - no_errors CCDC137 HGNC CCDC168 643677 genome.wustl.edu 37 13 103381995 103381996 + Frame_Shift_Ins INS - - A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 13 103381995 103381996 - A INS CCDC168 ENST00000322527 human ensembl 70_37 -1 known frame_shift_ins c.7165_7164 p.A2388fs 0.998:0.998 NULL NULL - no_errors CCDC168 HGNC CCDC84 338657 genome.wustl.edu 37 11 118869204 118869204 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 11 118869204 118869204 G A SNP CCDC84 ENST00000334418 human ensembl 70_37 +1 known missense c.185 p.R62Q 0.245 NULL NULL - no_errors CCDC84 HGNC CHD5 26038 genome.wustl.edu 37 1 6170487 6170487 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 6170487 6170487 C T SNP CHD5 ENST00000262450 human ensembl 70_37 -1 known silent c.5349 p.E1783 1.000 pfam_CHD_C2 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC CHST11 50515 genome.wustl.edu 37 12 105151391 105151391 + Missense_Mutation SNP T T C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 105151391 105151391 T C SNP CHST11 ENST00000303694 human ensembl 70_37 +1 known missense c.869 p.L290P 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST11 HGNC CLIP1 6249 genome.wustl.edu 37 12 122794404 122794404 + Nonsense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 122794404 122794404 G A SNP CLIP1 ENST00000540338 human ensembl 70_37 -1 known nonsense c.3499 p.Q1167* 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC CNTNAP1 8506 genome.wustl.edu 37 17 40843185 40843185 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 17 40843185 40843185 G A SNP CNTNAP1 ENST00000264638 human ensembl 70_37 +1 known missense c.2090 p.R697Q 1.000 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC COL6A6 131873 genome.wustl.edu 37 3 130279232 130279232 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 3 130279232 130279232 C T SNP COL6A6 ENST00000358511 human ensembl 70_37 +1 known silent c.24 p.L8 0.088 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC CROCCP2 84809 genome.wustl.edu 37 1 16959697 16959697 + RNA SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 16959697 16959697 C T SNP CROCCP2 ENST00000362058 human ensembl 70_37 -1 known rna NULL NULL 0.846 - - - no_errors CROCCP2 HGNC DBNDD2 55861 genome.wustl.edu 37 20 44038718 44038718 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 20 44038718 44038718 G A SNP DBNDD2 ENST00000372720 human ensembl 70_37 +1 known missense c.718 p.A240T 1.000 NULL pfam_Dysbindin - no_errors DBNDD2 HGNC DDX5 1655 genome.wustl.edu 37 17 62496426 62496426 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 17 62496426 62496426 C T SNP DDX5 ENST00000225792 human ensembl 70_37 -1 known missense c.1460 p.G487E 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX5 HGNC DDX60L 91351 genome.wustl.edu 37 4 169362599 169362599 + Missense_Mutation SNP C C A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 4 169362599 169362599 C A SNP DDX60L ENST00000260184 human ensembl 70_37 -1 known missense c.1183 p.D395Y 0.374 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60L HGNC DNAJC17 55192 genome.wustl.edu 37 15 41068475 41068475 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 15 41068475 41068475 C T SNP DNAJC17 ENST00000220496 human ensembl 70_37 -1 known missense c.397 p.E133K 1.000 NULL pfam_DnaJ_N,pfam_RRM_dom,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC17 HGNC DNAJC24 120526 genome.wustl.edu 37 11 31447908 31447909 + RNA INS - - T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 11 31447908 31447909 - T INS DNAJC24 ENST00000524747 human ensembl 70_37 +1 known rna NULL NULL 0.646:0.001 - - - no_errors DNAJC24 HGNC DOK3 79930 genome.wustl.edu 37 5 176931139 176931139 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 176931139 176931139 C T SNP DOK3 ENST00000357198 human ensembl 70_37 -1 known missense c.1336 p.D446N 0.116 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK3 HGNC DYNC1I2 1781 genome.wustl.edu 37 2 172604356 172604356 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 172604356 172604356 G A SNP DYNC1I2 ENST00000397119 human ensembl 70_37 +1 known missense c.1874 p.R625Q 1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENOX1 55068 genome.wustl.edu 37 13 43843680 43843680 + Missense_Mutation SNP T T G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 13 43843680 43843680 T G SNP ENOX1 ENST00000261488 human ensembl 70_37 -1 known missense c.1480 p.K494Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000200063 0 genome.wustl.edu 37 17 76396041 76396041 + RNA SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 17 76396041 76396041 C T SNP ENSG00000200063 ENST00000363193 human ensembl 70_37 +1 novel rna NULL NULL 0.000 - - - no_errors SNORA30 RFAM ENSG00000250910 0 genome.wustl.edu 37 4 156302323 156302323 + Splice_Site SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 4 156302323 156302323 G A SNP ENSG00000250910 ENST00000596165 human ensembl 70_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors AC097467.2 Clone_based_vega_gene ENSG00000259241 0 genome.wustl.edu 37 15 51987959 51987960 + RNA INS - - A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 15 51987959 51987960 - A INS ENSG00000259241 ENST00000559918 human ensembl 70_37 -1 known rna NULL NULL 0.003:0.006 - - - no_errors RP11-313P18.2 Clone_based_vega_gene ENSG00000260415 0 genome.wustl.edu 37 12 52204038 52204039 + RNA INS - - A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 52204038 52204039 - A INS ENSG00000260415 ENST00000562518 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors RP11-923I11.1 Clone_based_vega_gene ENSG00000263606 0 genome.wustl.edu 37 18 2946312 2946312 + RNA SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 18 2946312 2946312 G A SNP ENSG00000263606 ENST00000581139 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-737O24.3 Clone_based_vega_gene ENSG00000265209 0 genome.wustl.edu 37 16 57908380 57908381 + RNA INS - - A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 16 57908380 57908381 - A INS ENSG00000265209 ENST00000580935 human ensembl 70_37 -1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC010543.1 Clone_based_ensembl_gene FAM50A 9130 genome.wustl.edu 37 X 153677568 153677568 + Splice_Site SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b X 153677568 153677568 G A SNP FAM50A ENST00000393600 human ensembl 70_37 +1 known splice_site c.649-1 e8-1 1.000 - - - no_errors FAM50A HGNC FCGRT 2217 genome.wustl.edu 37 19 50028011 50028011 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 19 50028011 50028011 G A SNP FCGRT ENST00000221466 human ensembl 70_37 +1 known silent c.849 p.A283 0.110 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors FCGRT HGNC FHDC1 85462 genome.wustl.edu 37 4 153896449 153896449 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 4 153896449 153896449 G A SNP FHDC1 ENST00000260008 human ensembl 70_37 +1 known missense c.2006 p.G669E 0.407 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHDC1 HGNC FHDC1 85462 genome.wustl.edu 37 4 153896463 153896463 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 4 153896463 153896463 G A SNP FHDC1 ENST00000260008 human ensembl 70_37 +1 known missense c.2020 p.E674K 0.998 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHDC1 HGNC FRMPD2 143162 genome.wustl.edu 37 10 49400875 49400875 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 10 49400875 49400875 G A SNP FRMPD2 ENST00000374201 human ensembl 70_37 -1 known missense c.2017 p.L673F 0.004 NULL pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC GDPD1 284161 genome.wustl.edu 37 17 57322867 57322867 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 17 57322867 57322867 G A SNP GDPD1 ENST00000284116 human ensembl 70_37 +1 known missense c.278 p.R93K 1.000 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD1 HGNC GJB5 2709 genome.wustl.edu 37 1 35222961 35222961 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 35222961 35222961 G A SNP GJB5 ENST00000338513 human ensembl 70_37 +1 known silent c.30 p.L10 0.942 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin311 - no_errors GJB5 HGNC GOLGA8A 23015 genome.wustl.edu 37 15 34677517 34677517 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 15 34677517 34677517 G A SNP GOLGA8A ENST00000432566 human ensembl 70_37 -1 known missense c.485 p.T162I 0.001 NULL NULL - no_errors GOLGA8A HGNC GOLT1B 51026 genome.wustl.edu 37 12 21668831 21668831 + RNA SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 21668831 21668831 G A SNP GOLT1B ENST00000535593 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors GOLT1B HGNC GPR114 221188 genome.wustl.edu 37 16 57608854 57608854 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 16 57608854 57608854 G A SNP GPR114 ENST00000340339 human ensembl 70_37 +1 known missense c.1336 p.D446N 0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC GPR68 8111 genome.wustl.edu 37 14 91701285 91701285 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 14 91701285 91701285 G A SNP GPR68 ENST00000238699 human ensembl 70_37 -1 known missense c.140 p.P47L 0.974 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_OGR1_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Psych_rcpt - no_errors GPR68 HGNC HLA-G 3135 genome.wustl.edu 37 6 29796508 29796508 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 6 29796508 29796508 G A SNP HLA-G ENST00000376828 human ensembl 70_37 +1 known missense c.547 p.E183K 0.002 pfam_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-G HGNC HS3ST2 9956 genome.wustl.edu 37 16 22926815 22926815 + Nonsense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 16 22926815 22926815 C T SNP HS3ST2 ENST00000261374 human ensembl 70_37 +1 known nonsense c.1036 p.R346* 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST2 HGNC ISOC1 51015 genome.wustl.edu 37 5 128440651 128440651 + Silent SNP C C G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 128440651 128440651 C G SNP ISOC1 ENST00000173527 human ensembl 70_37 +1 known silent c.312 p.L104 0.986 superfamily_Isochorismatase-like pfam_Isochorismatase-like,superfamily_Isochorismatase-like - no_errors ISOC1 HGNC ITCH 83737 genome.wustl.edu 37 20 33026421 33026421 + Missense_Mutation SNP A A C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 20 33026421 33026421 A C SNP ITCH ENST00000262650 human ensembl 70_37 +1 known missense c.787 p.T263P 1.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors ITCH HGNC KHK 3795 genome.wustl.edu 37 2 27317370 27317370 + Missense_Mutation SNP T T C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 27317370 27317370 T C SNP KHK ENST00000260599 human ensembl 70_37 +1 known missense c.235 p.Y79H 1.000 pfam_PfkB pfam_PfkB - no_errors KHK HGNC KIFC1 3833 genome.wustl.edu 37 6 33365938 33365938 + Missense_Mutation SNP G G C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 6 33365938 33365938 G C SNP KIFC1 ENST00000428849 human ensembl 70_37 +1 known missense c.145 p.E49Q 0.909 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC KRT86 3892 genome.wustl.edu 37 12 52699033 52699033 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 52699033 52699033 G A SNP KRT86 ENST00000293525 human ensembl 70_37 +1 known missense c.745 p.V249I 0.056 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT86 Uniprot_genename LOC101060590 101060590 genome.wustl.edu 37 1 148951539 148951539 + RNA SNP A A G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 148951539 148951539 A G SNP LOC101060590 ENST00000452399 human ensembl 70_37 +1 known rna NULL NULL 0.160 - - - no_errors RP11-14N7.2 Clone_based_vega_gene LRIT1 26103 genome.wustl.edu 37 10 85997035 85997035 + Missense_Mutation SNP G G C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 10 85997035 85997035 G C SNP LRIT1 ENST00000372105 human ensembl 70_37 -1 known missense c.530 p.S177C 0.019 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRIT1 HGNC LRP1 4035 genome.wustl.edu 37 12 57543506 57543506 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 57543506 57543506 C T SNP LRP1 ENST00000553277 human ensembl 70_37 +1 putative silent c.885 p.H295 0.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC LSM14A 26065 genome.wustl.edu 37 19 34717371 34717372 + Splice_Site INS - - A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 19 34717371 34717372 - A INS LSM14A ENST00000433627 human ensembl 70_37 +1 known splice_site_ins c.1392+2_3 e10+2 1.000:1.000 - - - no_errors LSM14A HGNC LYNX1 66004 genome.wustl.edu 37 8 143846091 143846091 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 8 143846091 143846091 G T SNP LYNX1 ENST00000335822 human ensembl 70_37 -1 known missense c.328 p.P110T 0.000 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors LYNX1 HGNC LYRM4 57128 genome.wustl.edu 37 6 5144484 5144484 + Missense_Mutation SNP C C A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 6 5144484 5144484 C A SNP LYRM4 ENST00000464010 human ensembl 70_37 -1 putative missense c.220 p.G74C 0.000 NULL pfam_Complex1_LYR - no_errors LYRM4 HGNC MAP1A 4130 genome.wustl.edu 37 15 43813195 43813195 + Nonsense_Mutation SNP C C G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 15 43813195 43813195 C G SNP MAP1A ENST00000382031 human ensembl 70_37 +1 novel nonsense c.449 p.S150* 1.000 NULL NULL - no_errors MAP1A HGNC MAP1A 4130 genome.wustl.edu 37 15 43814952 43814952 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 15 43814952 43814952 G T SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.1281 p.R427S 0.998 NULL NULL - no_errors MAP1A HGNC MAP1A 4130 genome.wustl.edu 37 15 43815649 43815649 + Missense_Mutation SNP G G C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 15 43815649 43815649 G C SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.1978 p.E660Q 1.000 NULL NULL - no_errors MAP1A HGNC MAP1A 4130 genome.wustl.edu 37 15 43817734 43817734 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 15 43817734 43817734 G A SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.4063 p.E1355K 0.998 NULL NULL - no_errors MAP1A HGNC MAP1B 4131 genome.wustl.edu 37 5 71491138 71491138 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 71491138 71491138 G A SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known silent c.1956 p.E652 0.994 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC MBD6 114785 genome.wustl.edu 37 12 57920028 57920028 + Missense_Mutation SNP C C G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 57920028 57920028 C G SNP MBD6 ENST00000355673 human ensembl 70_37 +1 known missense c.1277 p.S426C 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC MCCC2 64087 genome.wustl.edu 37 5 70930872 70930872 + RNA SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 70930872 70930872 G A SNP MCCC2 ENST00000505787 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MCCC2 HGNC MED25 81857 genome.wustl.edu 37 19 50338832 50338832 + Silent SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 19 50338832 50338832 G T SNP MED25 ENST00000312865 human ensembl 70_37 +1 known silent c.1716 p.L572 1.000 NULL pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC MFN2 9927 genome.wustl.edu 37 1 12065800 12065800 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 12065800 12065800 C T SNP MFN2 ENST00000235329 human ensembl 70_37 +1 known missense c.1528 p.R510W 1.000 NULL pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase - no_errors MFN2 HGNC MIR4485 100616263 genome.wustl.edu 37 MT 3184 3184 + RNA SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b MT 3184 3184 C T SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC MMP1 4312 genome.wustl.edu 37 11 102663348 102663348 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 11 102663348 102663348 G A SNP MMP1 ENST00000315274 human ensembl 70_37 -1 known missense c.1021 p.R341W 0.000 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP1 HGNC MTMR4 9110 genome.wustl.edu 37 17 56572621 56572621 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 17 56572621 56572621 G A SNP MTMR4 ENST00000323456 human ensembl 70_37 -1 known missense c.2882 p.S961L 1.000 NULL pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR4 HGNC MUC12 10071 genome.wustl.edu 37 7 100641798 100641798 + Missense_Mutation SNP C C G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 7 100641798 100641798 C G SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.8383 p.P2795A 0.002 NULL pfam_SEA - no_errors MUC12 HGNC MUC5B 727897 genome.wustl.edu 37 11 1274084 1274084 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 11 1274084 1274084 G A SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.15100 p.V5034M 0.271 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MYO9A 4649 genome.wustl.edu 37 15 72119066 72119066 + Missense_Mutation SNP T T G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 15 72119066 72119066 T G SNP MYO9A ENST00000424560 human ensembl 70_37 -1 known missense c.7715 p.K2572T 1.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC NAA15 80155 genome.wustl.edu 37 4 140291474 140291474 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 4 140291474 140291474 G T SNP NAA15 ENST00000296543 human ensembl 70_37 +1 known missense c.1863 p.Q621H 1.000 pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC NBAS 51594 genome.wustl.edu 37 2 15614432 15614432 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 15614432 15614432 G A SNP NBAS ENST00000281513 human ensembl 70_37 -1 known missense c.1358 p.A453V 1.000 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC NINL 22981 genome.wustl.edu 37 20 25443162 25443162 + Missense_Mutation SNP C C G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 20 25443162 25443162 C G SNP NINL ENST00000278886 human ensembl 70_37 -1 known missense c.3439 p.D1147H 0.928 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC NR3C1 2908 genome.wustl.edu 37 5 142658932 142658932 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 142658932 142658932 G A SNP NR3C1 ENST00000415690 human ensembl 70_37 -1 known silent c.2226 p.I742 0.007 NULL pfam_Glcrtcd_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR3C1 HGNC NRAP 4892 genome.wustl.edu 37 10 115351979 115351979 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 10 115351979 115351979 G A SNP NRAP ENST00000369358 human ensembl 70_37 -1 known missense c.4642 p.R1548W 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC OR10S1 219873 genome.wustl.edu 37 11 123847819 123847819 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 11 123847819 123847819 C T SNP OR10S1 ENST00000531945 human ensembl 70_37 -1 known missense c.580 p.D194N 0.981 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10S1 HGNC PANK4 55229 genome.wustl.edu 37 1 2446787 2446787 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 2446787 2446787 C T SNP PANK4 ENST00000468002 human ensembl 70_37 -1 known silent c.546 p.A182 0.001 NULL pfam_Type_II_PanK,superfamily_DUF89 - no_errors PANK4 HGNC PCDHA7 56141 genome.wustl.edu 37 5 140214113 140214113 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 140214113 140214113 G A SNP PCDHA7 ENST00000525929 human ensembl 70_37 +1 known missense c.145 p.A49T 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA7 HGNC PCDHA8 56140 genome.wustl.edu 37 5 140221358 140221358 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 140221358 140221358 G A SNP PCDHA8 ENST00000531613 human ensembl 70_37 +1 known missense c.452 p.R151Q 0.932 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA8 HGNC PCDHGC5 56097 genome.wustl.edu 37 5 140870650 140870650 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 140870650 140870650 G T SNP PCDHGC5 ENST00000252087 human ensembl 70_37 +1 known missense c.1843 p.A615S 1.000 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 PCDHGC5 HGNC PLA2G12A 81579 genome.wustl.edu 37 4 110650839 110650839 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 4 110650839 110650839 G A SNP PLA2G12A ENST00000243501 human ensembl 70_37 -1 known missense c.127 p.H43Y 1.000 pfam_PLipase_A2_secretory_G12 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2 - no_errors PLA2G12A HGNC PNPLA5 150379 genome.wustl.edu 37 22 44287689 44287689 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 22 44287689 44287689 G A SNP PNPLA5 ENST00000216177 human ensembl 70_37 -1 known silent c.72 p.H24 1.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA5 HGNC PPP1R3A 5506 genome.wustl.edu 37 7 113518156 113518156 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 7 113518156 113518156 G T SNP PPP1R3A ENST00000284601 human ensembl 70_37 -1 known missense c.2991 p.F997L 0.004 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC PPP2R2B 5521 genome.wustl.edu 37 5 146257654 146257654 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 146257654 146257654 G A SNP PPP2R2B ENST00000394414 human ensembl 70_37 -1 known missense c.179 p.T60M 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2B HGNC PRELID2 153768 genome.wustl.edu 37 5 145198976 145198976 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 145198976 145198976 G A SNP PRELID2 ENST00000334744 human ensembl 70_37 -1 known missense c.209 p.S70F 0.187 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 - no_errors PRELID2 HGNC PRR25 388199 genome.wustl.edu 37 16 863350 863350 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 16 863350 863350 C T SNP PRR25 ENST00000301698 human ensembl 70_37 +1 known missense c.698 p.P233L 0.005 NULL NULL - no_errors PRR25 HGNC PUS7 54517 genome.wustl.edu 37 7 105148719 105148719 + Missense_Mutation SNP C C G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 7 105148719 105148719 C G SNP PUS7 ENST00000356362 human ensembl 70_37 -1 known missense c.241 p.E81Q 0.945 pirsf_PsdUridine_synth_TruD_euk pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7 HGNC RALGPS1 9649 genome.wustl.edu 37 9 129739991 129739991 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 9 129739991 129739991 G T SNP RALGPS1 ENST00000259351 human ensembl 70_37 +1 known missense c.183 p.M61I 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS1 HGNC RBM15 64783 genome.wustl.edu 37 1 110888941 110888941 + RNA SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 110888941 110888941 G A SNP RBM15 ENST00000487146 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RBM15 HGNC RBMXL3 139804 genome.wustl.edu 37 X 114424169 114424169 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b X 114424169 114424169 C T SNP RBMXL3 ENST00000424776 human ensembl 70_37 +1 known silent c.165 p.T55 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC RFWD3 55159 genome.wustl.edu 37 16 74685965 74685965 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 16 74685965 74685965 G T SNP RFWD3 ENST00000361070 human ensembl 70_37 -1 known missense c.574 p.P192T 0.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING - no_errors RFWD3 HGNC RP1 6101 genome.wustl.edu 37 8 55533806 55533806 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 8 55533806 55533806 C T SNP RP1 ENST00000220676 human ensembl 70_37 +1 known missense c.280 p.R94C 0.000 pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC RPGRIP1 57096 genome.wustl.edu 37 14 21793410 21793410 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 14 21793410 21793410 C T SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known silent c.2235 p.F745 0.550 pfam_DUF3250 pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC RUSC1-AS1 284618 genome.wustl.edu 37 1 155290563 155290563 + RNA DEL A A - TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 155290563 155290563 A - DEL RUSC1-AS1 ENST00000450199 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RUSC1-AS1 HGNC SDK2 54549 genome.wustl.edu 37 17 71420166 71420166 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 17 71420166 71420166 C T SNP SDK2 ENST00000392650 human ensembl 70_37 -1 known missense c.1649 p.R550K 0.013 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC SETD1A 9739 genome.wustl.edu 37 16 30982737 30982737 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 16 30982737 30982737 C T SNP SETD1A ENST00000262519 human ensembl 70_37 +1 known silent c.3055 p.L1019 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC SEZ6 124925 genome.wustl.edu 37 17 27291100 27291100 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 17 27291100 27291100 G A SNP SEZ6 ENST00000317338 human ensembl 70_37 -1 known missense c.1120 p.H374Y 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC SFMBT2 57713 genome.wustl.edu 37 10 7244472 7244472 + Missense_Mutation SNP C C G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 10 7244472 7244472 C G SNP SFMBT2 ENST00000361972 human ensembl 70_37 -1 known missense c.1457 p.R486T 1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC SH2D6 284948 genome.wustl.edu 37 2 85660240 85660240 + RNA SNP G G C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 85660240 85660240 G C SNP SH2D6 ENST00000481426 human ensembl 70_37 +1 known rna NULL NULL 0.244 - - - no_errors SH2D6 HGNC SLAMF7 57823 genome.wustl.edu 37 1 160722997 160722998 + RNA INS - - A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 160722997 160722998 - A INS SLAMF7 ENST00000484221 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.002 - - - no_errors SLAMF7 HGNC SLC30A6 55676 genome.wustl.edu 37 2 32445705 32445705 + Missense_Mutation SNP C C G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 32445705 32445705 C G SNP SLC30A6 ENST00000282587 human ensembl 70_37 +1 known missense c.1309 p.Q437E 0.997 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A6 HGNC SLC35E2B 728661 genome.wustl.edu 37 1 1601573 1601573 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 1601573 1601573 G A SNP SLC35E2B ENST00000234800 human ensembl 70_37 -1 known missense c.725 p.S242L 1.000 pfam_DUF250,pfam_DMT,pfam_UAA pfam_DUF250,pfam_DMT,pfam_UAA - no_errors SLC35E2B HGNC SRP72 6731 genome.wustl.edu 37 4 57355616 57355616 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 4 57355616 57355616 C T SNP SRP72 ENST00000342756 human ensembl 70_37 +1 known silent c.1287 p.F429 1.000 smart_TPR_repeat pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SRP72 HGNC SRRM4 84530 genome.wustl.edu 37 12 119594444 119594444 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 119594444 119594444 G A SNP SRRM4 ENST00000267260 human ensembl 70_37 +1 known silent c.1677 p.R559 0.961 NULL NULL - no_errors SRRM4 HGNC SRRT 51593 genome.wustl.edu 37 7 100482651 100482651 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 7 100482651 100482651 G T SNP SRRT ENST00000388793 human ensembl 70_37 +1 known missense c.1149 p.K383N 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC STAM2 10254 genome.wustl.edu 37 2 153004816 153004817 + Splice_Site INS - - A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 153004816 153004817 - A INS STAM2 ENST00000263904 human ensembl 70_37 -1 known splice_site_ins c.126-3_126-2 e3-2 1.000:0.002 - - - no_errors STAM2 HGNC SYNE2 23224 genome.wustl.edu 37 14 64676741 64676741 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 14 64676741 64676741 C T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.18622 p.R6208C 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC TBC1D14 57533 genome.wustl.edu 37 4 7026927 7026927 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 4 7026927 7026927 G A SNP TBC1D14 ENST00000409757 human ensembl 70_37 +1 known missense c.1954 p.E652K 0.986 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D14 HGNC TBX22 50945 genome.wustl.edu 37 X 79278734 79278734 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b X 79278734 79278734 G A SNP TBX22 ENST00000373294 human ensembl 70_37 +1 known silent c.351 p.A117 0.655 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC TLL2 7093 genome.wustl.edu 37 10 98172979 98172979 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 10 98172979 98172979 C T SNP TLL2 ENST00000357947 human ensembl 70_37 -1 known missense c.1018 p.A340T 1.000 pfam_Peptidase_M12A,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL2 HGNC TMEM182 130827 genome.wustl.edu 37 2 103380846 103380846 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 103380846 103380846 G A SNP TMEM182 ENST00000412401 human ensembl 70_37 +1 known missense c.291 p.M97I 0.793 NULL NULL - no_errors TMEM182 HGNC TMEM63A 9725 genome.wustl.edu 37 1 226047210 226047210 + RNA SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 226047210 226047210 G A SNP TMEM63A ENST00000487971 human ensembl 70_37 -1 known rna NULL NULL 0.058 - - - no_errors TMEM63A HGNC TNFSF15 9966 genome.wustl.edu 37 9 117553053 117553053 + Silent SNP T T C TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 9 117553053 117553053 T C SNP TNFSF15 ENST00000374045 human ensembl 70_37 -1 known silent c.435 p.G145 1.000 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_a/b/c - no_errors TNFSF15 HGNC TRIM42 287015 genome.wustl.edu 37 3 140401595 140401595 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 3 140401595 140401595 C T SNP TRIM42 ENST00000286349 human ensembl 70_37 +1 known silent c.633 p.H211 0.812 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC TRIM63 84676 genome.wustl.edu 37 1 26387774 26387774 + Missense_Mutation SNP C C G TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 26387774 26387774 C G SNP TRIM63 ENST00000374272 human ensembl 70_37 -1 known missense c.384 p.E128D 1.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM63 HGNC TRIT1 54802 genome.wustl.edu 37 1 40307502 40307502 + Nonsense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 1 40307502 40307502 G A SNP TRIT1 ENST00000316891 human ensembl 70_37 -1 known nonsense c.1318 p.Q440* 0.106 NULL pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase - no_errors TRIT1 HGNC TRPM4 54795 genome.wustl.edu 37 19 49714020 49714020 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 19 49714020 49714020 C T SNP TRPM4 ENST00000252826 human ensembl 70_37 +1 known missense c.3382 p.H1128Y 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC TSKS 60385 genome.wustl.edu 37 19 50266447 50266447 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 19 50266447 50266447 C T SNP TSKS ENST00000246801 human ensembl 70_37 -1 known missense c.58 p.D20N 1.000 NULL NULL - no_errors TSKS HGNC TSKS 60385 genome.wustl.edu 37 19 50266487 50266487 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 19 50266487 50266487 C T SNP TSKS ENST00000246801 human ensembl 70_37 -1 known silent c.18 p.V6 1.000 NULL NULL - no_errors TSKS HGNC TTN 7273 genome.wustl.edu 37 2 179498554 179498554 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 179498554 179498554 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.34968 p.L11656 0.029 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC UNC50 25972 genome.wustl.edu 37 2 99226302 99226302 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 99226302 99226302 C T SNP UNC50 ENST00000409347 human ensembl 70_37 +1 known missense c.131 p.A44V 1.000 NULL pfam_UNC-50 - no_errors UNC50 HGNC UNC5A 90249 genome.wustl.edu 37 5 176292672 176292672 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 176292672 176292672 C T SNP UNC5A ENST00000261961 human ensembl 70_37 +1 known missense c.122 p.T41M 0.000 NULL pfam_ZU5,pfam_Death,pfam_Ig_I-set,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5A HGNC USP34 9736 genome.wustl.edu 37 2 61510366 61510366 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 61510366 61510366 G T SNP USP34 ENST00000398571 human ensembl 70_37 -1 known missense c.4912 p.H1638N 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC VPS33A 65082 genome.wustl.edu 37 12 122745896 122745896 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 122745896 122745896 C T SNP VPS33A ENST00000267199 human ensembl 70_37 -1 known missense c.395 p.G132E 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33A HGNC VPS33A 65082 genome.wustl.edu 37 12 122745916 122745916 + Silent SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 12 122745916 122745916 C T SNP VPS33A ENST00000267199 human ensembl 70_37 -1 known silent c.375 p.L125 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33A HGNC VSTM2A 222008 genome.wustl.edu 37 7 54612464 54612464 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 7 54612464 54612464 G A SNP VSTM2A ENST00000402026 human ensembl 70_37 +1 known missense c.226 p.E76K 0.994 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors VSTM2A HGNC VWA7 80737 genome.wustl.edu 37 6 31733689 31733689 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 6 31733689 31733689 G A SNP VWA7 ENST00000375686 human ensembl 70_37 -1 known missense c.2470 p.R824W 1.000 NULL NULL - no_errors VWA7 HGNC WDR36 134430 genome.wustl.edu 37 5 110428130 110428130 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 5 110428130 110428130 G A SNP WDR36 ENST00000506538 human ensembl 70_37 +1 known silent c.144 p.L48 0.000 NULL pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC XPO1 7514 genome.wustl.edu 37 2 61726050 61726051 + Splice_Site INS - - A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 61726050 61726051 - A INS XPO1 ENST00000401558 human ensembl 70_37 -1 known splice_site_ins c.591-3_591-2 e7-2 1.000:0.996 - - - no_errors XPO1 HGNC ZFP36L2 678 genome.wustl.edu 37 2 43452542 43452542 + Missense_Mutation SNP A A T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 2 43452542 43452542 A T SNP ZFP36L2 ENST00000282388 human ensembl 70_37 -1 known missense c.401 p.L134H 1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ZMAT1 84460 genome.wustl.edu 37 X 101139637 101139637 + Missense_Mutation SNP T T A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b X 101139637 101139637 T A SNP ZMAT1 ENST00000372782 human ensembl 70_37 -1 known missense c.762 p.R254S 0.000 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ZNF207 7756 genome.wustl.edu 37 17 30700349 30700349 + RNA SNP T T A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 17 30700349 30700349 T A SNP ZNF207 ENST00000584416 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors ZNF207 HGNC ZNF621 285268 genome.wustl.edu 37 3 40570895 40570895 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 3 40570895 40570895 G A SNP ZNF621 ENST00000339296 human ensembl 70_37 +1 known missense c.110 p.G37E 0.979 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF621 HGNC ZNF829 374899 genome.wustl.edu 37 19 37382909 37382909 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 19 37382909 37382909 G A SNP ZNF829 ENST00000520965 human ensembl 70_37 -1 known missense c.1027 p.H343Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF829 HGNC ZNFX1 57169 genome.wustl.edu 37 20 47874075 47874075 + Missense_Mutation SNP C C T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 20 47874075 47874075 C T SNP ZNFX1 ENST00000371752 human ensembl 70_37 -1 known missense c.2543 p.R848Q 0.010 NULL superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ZSWIM4 65249 genome.wustl.edu 37 19 13928068 13928068 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b9a90f-1b7e-4ce1-955e-d67478395417 3593a6b0-2918-42ea-a3aa-1855ded8c03b 19 13928068 13928068 G A SNP ZSWIM4 ENST00000254323 human ensembl 70_37 +1 known missense c.1219 p.E407K 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC