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 ABCD1 215 genome.wustl.edu 37 X 153008476 153008476 + Missense_Mutation SNP T T C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 X 153008476 153008476 T C SNP ABCD1 ENST00000218104 human ensembl 70_37 +1 known missense c.1816 p.S606P 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD1 HGNC ACLY 47 genome.wustl.edu 37 17 40069970 40069970 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 40069970 40069970 G T SNP ACLY ENST00000352035 human ensembl 70_37 -1 known missense c.157 p.Q53K 1.000 pfam_ATP-grasp_succ-CoA_synth-type,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ACVR2B-AS1 100128640 genome.wustl.edu 37 3 38493045 38493045 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 38493045 38493045 G A SNP ACVR2B-AS1 ENST00000441531 human ensembl 70_37 -1 putative rna NULL NULL 0.048 - - - no_errors ACVR2B-AS1 HGNC ADAMTS20 80070 genome.wustl.edu 37 12 43826221 43826221 + Missense_Mutation SNP C C G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 12 43826221 43826221 C G SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.2982 p.M994I 0.985 pfam_Thrombospondin_1_rpt,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 ADAMTS20 80070 genome.wustl.edu 37 12 43826221 43826221 + Missense_Mutation SNP C C G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 12 43826221 43826221 C G SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.2982 p.M994I 0.985 pfam_Thrombospondin_1_rpt,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 ADAR 103 genome.wustl.edu 37 1 154558839 154558839 + Missense_Mutation SNP C C G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 154558839 154558839 C G SNP ADAR ENST00000292205 human ensembl 70_37 -1 known missense c.3149 p.G1050A 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ADAR 103 genome.wustl.edu 37 1 154558839 154558839 + Missense_Mutation SNP C C G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 154558839 154558839 C G SNP ADAR ENST00000292205 human ensembl 70_37 -1 known missense c.3149 p.G1050A 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC AGBL5 60509 genome.wustl.edu 37 2 27275933 27275933 + Missense_Mutation SNP G G C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27275933 27275933 G C SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.107 p.G36A 0.022 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC AGBL5 60509 genome.wustl.edu 37 2 27275933 27275933 + Missense_Mutation SNP G G C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27275933 27275933 G C SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.107 p.G36A 0.022 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC AGBL5 60509 genome.wustl.edu 37 2 27276028 27276028 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27276028 27276028 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.202 p.E68K 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC AGBL5 60509 genome.wustl.edu 37 2 27276028 27276028 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27276028 27276028 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.202 p.E68K 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC AGBL5 60509 genome.wustl.edu 37 2 27276036 27276036 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27276036 27276036 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known silent c.210 p.G70 0.985 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC AGBL5 60509 genome.wustl.edu 37 2 27276036 27276036 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27276036 27276036 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known silent c.210 p.G70 0.985 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC AGBL5 60509 genome.wustl.edu 37 2 27276872 27276872 + Nonsense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27276872 27276872 G T SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known nonsense c.496 p.E166* 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC AGBL5 60509 genome.wustl.edu 37 2 27276872 27276872 + Nonsense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27276872 27276872 G T SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known nonsense c.496 p.E166* 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC AGBL5 60509 genome.wustl.edu 37 2 27278030 27278030 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27278030 27278030 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.817 p.D273N 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14 - no_errors AGBL5 HGNC AGBL5 60509 genome.wustl.edu 37 2 27278030 27278030 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27278030 27278030 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.817 p.D273N 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14 - no_errors AGBL5 HGNC AGBL5 60509 genome.wustl.edu 37 2 27278089 27278089 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27278089 27278089 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known silent c.876 p.L292 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14 - no_errors AGBL5 HGNC AGBL5 60509 genome.wustl.edu 37 2 27278089 27278089 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27278089 27278089 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known silent c.876 p.L292 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14 - no_errors AGBL5 HGNC AGBL5 60509 genome.wustl.edu 37 2 27278589 27278589 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27278589 27278589 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known silent c.948 p.L316 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14 - no_errors AGBL5 HGNC AGBL5 60509 genome.wustl.edu 37 2 27278878 27278878 + Nonsense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27278878 27278878 G T SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known nonsense c.1237 p.E413* 0.004 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC AGBL5 60509 genome.wustl.edu 37 2 27278878 27278878 + Nonsense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27278878 27278878 G T SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known nonsense c.1237 p.E413* 0.004 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC AGBL5 60509 genome.wustl.edu 37 2 27278963 27278963 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27278963 27278963 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.1322 p.G441D 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC AGBL5 60509 genome.wustl.edu 37 2 27278963 27278963 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 27278963 27278963 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.1322 p.G441D 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ALCAM 214 genome.wustl.edu 37 3 105290745 105290745 + Missense_Mutation SNP A A C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 105290745 105290745 A C SNP ALCAM ENST00000306107 human ensembl 70_37 +1 known missense c.1714 p.K572Q 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like - no_errors ALCAM HGNC ALCAM 214 genome.wustl.edu 37 3 105290745 105290745 + Missense_Mutation SNP A A C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 105290745 105290745 A C SNP ALCAM ENST00000306107 human ensembl 70_37 +1 known missense c.1714 p.K572Q 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like - no_errors ALCAM HGNC ANKRD36 375248 genome.wustl.edu 37 2 97877440 97877440 + Missense_Mutation SNP T T C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 97877440 97877440 T C SNP ANKRD36 ENST00000420699 human ensembl 70_37 +1 known missense c.3431 p.M1144T 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ANO3 63982 genome.wustl.edu 37 11 26681913 26681913 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 26681913 26681913 G T SNP ANO3 ENST00000256737 human ensembl 70_37 +1 known missense c.2868 p.M956I 1.000 NULL pfam_Anoctamin - no_errors ANO3 HGNC ANO4 121601 genome.wustl.edu 37 12 101520733 101520733 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 12 101520733 101520733 G A SNP ANO4 ENST00000392977 human ensembl 70_37 +1 known missense c.2753 p.R918K 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ARHGEF12 23365 genome.wustl.edu 37 11 120312840 120312840 + Nonsense_Mutation SNP A A T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 120312840 120312840 A T SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known nonsense c.1174 p.K392* 1.000 pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ARHGEF12 23365 genome.wustl.edu 37 11 120312840 120312840 + Nonsense_Mutation SNP A A T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 120312840 120312840 A T SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known nonsense c.1174 p.K392* 1.000 pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ARHGEF37 389337 genome.wustl.edu 37 5 149008510 149008510 + Missense_Mutation SNP C C G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 5 149008510 149008510 C G SNP ARHGEF37 ENST00000333677 human ensembl 70_37 +1 known missense c.1799 p.S600C 0.008 superfamily_SH3_domain pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF37 HGNC ARIH2 10425 genome.wustl.edu 37 3 49002355 49002355 + Nonsense_Mutation SNP C C G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 49002355 49002355 C G SNP ARIH2 ENST00000356401 human ensembl 70_37 +1 known nonsense c.327 p.Y109* 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ARIH2 10425 genome.wustl.edu 37 3 49002355 49002355 + Nonsense_Mutation SNP C C G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 49002355 49002355 C G SNP ARIH2 ENST00000356401 human ensembl 70_37 +1 known nonsense c.327 p.Y109* 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC B3GNT9 84752 genome.wustl.edu 37 16 67183555 67183555 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 16 67183555 67183555 G A SNP B3GNT9 ENST00000449549 human ensembl 70_37 -1 known silent c.834 p.Y278 0.873 pfam_Glyco_trans_31,pfam_Fringe-like pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT9 HGNC BAIAP3 8938 genome.wustl.edu 37 16 1392980 1392980 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 16 1392980 1392980 G A SNP BAIAP3 ENST00000324385 human ensembl 70_37 +1 known missense c.1333 p.A445T 0.758 NULL pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC BAIAP3 8938 genome.wustl.edu 37 16 1392980 1392980 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 16 1392980 1392980 G A SNP BAIAP3 ENST00000324385 human ensembl 70_37 +1 known missense c.1333 p.A445T 0.758 NULL pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC BCL3 602 genome.wustl.edu 37 19 45261992 45261992 + Missense_Mutation SNP C C G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 45261992 45261992 C G SNP BCL3 ENST00000164227 human ensembl 70_37 +1 known missense c.1071 p.I357M 0.972 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors BCL3 HGNC BHLHE40-AS1 100507582 genome.wustl.edu 37 3 4940482 4940482 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 4940482 4940482 C A SNP BHLHE40-AS1 ENST00000438479 human ensembl 70_37 -1 known rna NULL NULL 0.504 - - - no_errors BHLHE40-AS1 HGNC BMP8A 353500 genome.wustl.edu 37 1 39988084 39988084 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 39988084 39988084 G A SNP BMP8A ENST00000331593 human ensembl 70_37 +1 known missense c.878 p.R293H 0.490 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP8A HGNC BPIFB1 92747 genome.wustl.edu 37 20 31895716 31895717 + RNA INS - - C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 20 31895716 31895717 - C INS BPIFB1 ENST00000464032 human ensembl 70_37 +1 known rna NULL NULL 0.011:0.009 - - - no_errors BPIFB1 HGNC BRF1 2972 genome.wustl.edu 37 14 105684015 105684015 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 14 105684015 105684015 G A SNP BRF1 ENST00000546474 human ensembl 70_37 -1 known silent c.1638 p.L546 0.126 pfam_BRF1_TBP-bd pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC BSN-AS2 100132677 genome.wustl.edu 37 3 49586969 49586970 + RNA INS - - T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 49586969 49586970 - T INS BSN-AS2 ENST00000421598 human ensembl 70_37 -1 known rna NULL NULL 0.165:0.174 - - - no_errors BSN-AS2 HGNC BUB1 699 genome.wustl.edu 37 2 111419251 111419251 + Silent SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 111419251 111419251 G T SNP BUB1 ENST00000302759 human ensembl 70_37 -1 known silent c.1125 p.S375 0.573 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors BUB1 HGNC C17orf51 339263 genome.wustl.edu 37 17 21437478 21437478 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 21437478 21437478 G T SNP C17orf51 ENST00000426261 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors C17orf51 HGNC C2orf49 79074 genome.wustl.edu 37 2 105953938 105953939 + Frame_Shift_Ins INS - - C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 105953938 105953939 - C INS C2orf49 ENST00000437250 human ensembl 70_37 +1 known frame_shift_ins c.8_9 p.L4fs 0.881:0.072 NULL NULL - no_errors C2orf49 HGNC C3orf20 84077 genome.wustl.edu 37 3 14798948 14798948 + Missense_Mutation SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 14798948 14798948 C T SNP C3orf20 ENST00000253697 human ensembl 70_37 +1 known missense c.2011 p.R671W 1.000 NULL NULL - no_errors C3orf20 HGNC CARD11 84433 genome.wustl.edu 37 7 2952970 2952970 + Silent SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 7 2952970 2952970 C T SNP CARD11 ENST00000396946 human ensembl 70_37 -1 known silent c.2970 p.Q990 1.000 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC CARD11 84433 genome.wustl.edu 37 7 2952970 2952970 + Silent SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 7 2952970 2952970 C T SNP CARD11 ENST00000396946 human ensembl 70_37 -1 known silent c.2970 p.Q990 1.000 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC CASP9 842 genome.wustl.edu 37 1 15833504 15833504 + Nonsense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 15833504 15833504 C A SNP CASP9 ENST00000333868 human ensembl 70_37 -1 known nonsense c.520 p.E174* 0.000 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP9 HGNC CASQ1 844 genome.wustl.edu 37 1 160171086 160171086 + Nonsense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 160171086 160171086 G T SNP CASQ1 ENST00000368078 human ensembl 70_37 +1 known nonsense c.1111 p.E371* 0.981 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ1 HGNC CCDC39 339829 genome.wustl.edu 37 3 180426572 180426572 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 180426572 180426572 C A SNP CCDC39 ENST00000273654 human ensembl 70_37 -1 known missense c.42 p.W14C 0.001 NULL superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC CD84 8832 genome.wustl.edu 37 1 160535532 160535532 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 160535532 160535532 G A SNP CD84 ENST00000311224 human ensembl 70_37 -1 known missense c.50 p.P17L 0.039 NULL smart_Ig_sub,pfscan_Ig-like - no_errors CD84 HGNC CD84 8832 genome.wustl.edu 37 1 160535532 160535532 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 160535532 160535532 G A SNP CD84 ENST00000311224 human ensembl 70_37 -1 known missense c.50 p.P17L 0.039 NULL smart_Ig_sub,pfscan_Ig-like - no_errors CD84 HGNC CDC42EP4 23580 genome.wustl.edu 37 17 71302939 71302939 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 71302939 71302939 G A SNP CDC42EP4 ENST00000582303 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors CDC42EP4 HGNC CHD3 1107 genome.wustl.edu 37 17 7793747 7793748 + RNA INS - - A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 7793747 7793748 - A INS CHD3 ENST00000574022 human ensembl 70_37 +1 known rna NULL NULL 0.217:0.454 - - - no_errors CHD3 HGNC CLEC7A 64581 genome.wustl.edu 37 12 10279189 10279189 + Silent SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 12 10279189 10279189 G T SNP CLEC7A ENST00000304084 human ensembl 70_37 -1 known silent c.321 p.T107 0.828 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC7A HGNC CNKSR1 10256 genome.wustl.edu 37 1 26513674 26513674 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 26513674 26513674 G T SNP CNKSR1 ENST00000374253 human ensembl 70_37 +1 known missense c.1345 p.G449C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC COQ9 57017 genome.wustl.edu 37 16 57486731 57486731 + Silent SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 16 57486731 57486731 C T SNP COQ9 ENST00000262507 human ensembl 70_37 +1 known silent c.261 p.G87 0.002 NULL pfam_COQ9,superfamily_Homeodomain-like,tigrfam_Ubiq_biosynth_COQ9 - no_errors COQ9 HGNC CR1L 1379 genome.wustl.edu 37 1 207890923 207890923 + Missense_Mutation SNP G G C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 207890923 207890923 G C SNP CR1L ENST00000508064 human ensembl 70_37 +1 known missense c.1529 p.R510T 0.001 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC CRTC3 64784 genome.wustl.edu 37 15 91083312 91083312 + Silent SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 15 91083312 91083312 C T SNP CRTC3 ENST00000268184 human ensembl 70_37 +1 known silent c.174 p.Y58 1.000 NULL NULL - no_errors CRTC3 HGNC CYP2B7P1 1556 genome.wustl.edu 37 19 41450146 41450146 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 41450146 41450146 C A SNP CYP2B7P1 ENST00000600518 human ensembl 70_37 +1 known rna NULL NULL 0.014 - - - no_errors CYP2B7P1 HGNC DALRD3 55152 genome.wustl.edu 37 3 49055216 49055216 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 49055216 49055216 G A SNP DALRD3 ENST00000341949 human ensembl 70_37 -1 known missense c.548 p.S183L 0.001 NULL pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC DDX19A 55308 genome.wustl.edu 37 16 70390092 70390092 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 16 70390092 70390092 C A SNP DDX19A ENST00000302243 human ensembl 70_37 +1 known missense c.235 p.L79M 1.000 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,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX19A HGNC DDX60L 91351 genome.wustl.edu 37 4 169411576 169411576 + RNA SNP T T A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 4 169411576 169411576 T A SNP DDX60L ENST00000505150 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors DDX60L HGNC DHX34 9704 genome.wustl.edu 37 19 47865903 47865903 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 47865903 47865903 C A SNP DHX34 ENST00000328771 human ensembl 70_37 +1 known missense c.1546 p.P516T 1.000 pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC EFCAB7 84455 genome.wustl.edu 37 1 63998408 63998408 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 63998408 63998408 G A SNP EFCAB7 ENST00000371088 human ensembl 70_37 +1 known missense c.467 p.G156D 1.000 smart_EF_hand_Ca-bd smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB7 HGNC EMC1 23065 genome.wustl.edu 37 1 19545176 19545176 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 19545176 19545176 C A SNP EMC1 ENST00000480380 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors EMC1 HGNC ENSG00000203356 0 genome.wustl.edu 37 1 51662701 51662702 + RNA INS - - A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 51662701 51662702 - A INS ENSG00000203356 ENST00000366181 human ensembl 70_37 -1 putative rna NULL NULL 0.000:0.001 - - - no_errors RP11-296A18.3 Clone_based_vega_gene ENSG00000203849 0 genome.wustl.edu 37 1 142634916 142634916 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 142634916 142634916 G T SNP ENSG00000203849 ENST00000369381 human ensembl 70_37 -1 known rna NULL NULL 0.079 - - - no_errors AL583842.6 Clone_based_vega_gene ENSG00000206780 0 genome.wustl.edu 37 4 17322423 17322423 + RNA SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 4 17322423 17322423 C T SNP ENSG00000206780 ENST00000384053 human ensembl 70_37 -1 novel rna NULL NULL 0.006 - - - no_errors SNORA75 RFAM ENSG00000224271 0 genome.wustl.edu 37 22 48100490 48100490 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 22 48100490 48100490 C A SNP ENSG00000224271 ENST00000423737 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-191L9.4 Clone_based_vega_gene ENSG00000227603 0 genome.wustl.edu 37 9 96197732 96197732 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 9 96197732 96197732 C A SNP ENSG00000227603 ENST00000445280 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-165J3.6 Clone_based_vega_gene ENSG00000228386 0 genome.wustl.edu 37 20 32605249 32605249 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 20 32605249 32605249 C A SNP ENSG00000228386 ENST00000451556 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RP5-1125A11.4 Clone_based_vega_gene ENSG00000232411 0 genome.wustl.edu 37 2 166695403 166695403 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 166695403 166695403 G T SNP ENSG00000232411 ENST00000457108 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors AC009495.3 Clone_based_vega_gene ENSG00000233569 0 genome.wustl.edu 37 9 120413195 120413195 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 9 120413195 120413195 G A SNP ENSG00000233569 ENST00000450938 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-500B12.1 Clone_based_vega_gene ENSG00000235242 0 genome.wustl.edu 37 2 114880821 114880821 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 114880821 114880821 G A SNP ENSG00000235242 ENST00000450325 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC010982.2 Clone_based_vega_gene ENSG00000235687 0 genome.wustl.edu 37 10 37598245 37598245 + RNA SNP T T A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 10 37598245 37598245 T A SNP ENSG00000235687 ENST00000426471 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-20F24.4 Clone_based_vega_gene ENSG00000236634 0 genome.wustl.edu 37 2 205334846 205334846 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 205334846 205334846 C A SNP ENSG00000236634 ENST00000444017 human ensembl 70_37 -1 known rna NULL NULL 0.221 - - - no_errors AC016903.1 Clone_based_vega_gene ENSG00000237017 0 genome.wustl.edu 37 19 54626824 54626824 + RNA SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 54626824 54626824 C T SNP ENSG00000237017 ENST00000452097 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC012314.8 Clone_based_vega_gene ENSG00000237017 0 genome.wustl.edu 37 19 54626824 54626824 + RNA SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 54626824 54626824 C T SNP ENSG00000237017 ENST00000452097 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC012314.8 Clone_based_vega_gene ENSG00000237312 0 genome.wustl.edu 37 6 153625896 153625896 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 6 153625896 153625896 G T SNP ENSG00000237312 ENST00000436953 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-475C16.2 Clone_based_vega_gene ENSG00000243321 0 genome.wustl.edu 37 3 149795466 149795466 + RNA SNP A A C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 149795466 149795466 A C SNP ENSG00000243321 ENST00000464673 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-167H9.3 Clone_based_vega_gene ENSG00000243347 0 genome.wustl.edu 37 3 147913586 147913587 + RNA INS - - A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 147913586 147913587 - A INS ENSG00000243347 ENST00000460324 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-501O2.4 Clone_based_vega_gene ENSG00000244260 0 genome.wustl.edu 37 2 9814184 9814184 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 9814184 9814184 G A SNP ENSG00000244260 ENST00000483023 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-521D12.2 Clone_based_vega_gene ENSG00000249631 0 genome.wustl.edu 37 4 11791462 11791462 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 4 11791462 11791462 G A SNP ENSG00000249631 ENST00000509244 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-281P23.2 Clone_based_vega_gene ENSG00000250062 0 genome.wustl.edu 37 4 87048808 87048808 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 4 87048808 87048808 C A SNP ENSG00000250062 ENST00000509322 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-778J15.1 Clone_based_vega_gene ENSG00000250937 0 genome.wustl.edu 37 12 8449406 8449407 + RNA INS - - G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 12 8449406 8449407 - G INS ENSG00000250937 ENST00000509919 human ensembl 70_37 +1 known rna NULL NULL 0.003:0.005 - - - no_errors RP11-90D4.1 Clone_based_vega_gene ENSG00000251736 0 genome.wustl.edu 37 7 132767687 132767688 + RNA INS - - A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 7 132767687 132767688 - A INS ENSG00000251736 ENST00000515927 human ensembl 70_37 +1 novel rna NULL NULL 0.001:0.013 - - - no_errors U6 RFAM ENSG00000253898 0 genome.wustl.edu 37 8 84321053 84321053 + RNA SNP A A G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 8 84321053 84321053 A G SNP ENSG00000253898 ENST00000522365 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-51M18.1 Clone_based_vega_gene ENSG00000255246 0 genome.wustl.edu 37 11 82314838 82314838 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 82314838 82314838 C A SNP ENSG00000255246 ENST00000527364 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-179A16.2 Clone_based_vega_gene ENSG00000255258 0 genome.wustl.edu 37 11 133670193 133670193 + RNA SNP A A T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 133670193 133670193 A T SNP ENSG00000255258 ENST00000530621 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-448P19.1 Clone_based_vega_gene ENSG00000256508 0 genome.wustl.edu 37 11 68779822 68779822 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 68779822 68779822 G T SNP ENSG00000256508 ENST00000569428 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-554A11.6 Clone_based_vega_gene ENSG00000257614 0 genome.wustl.edu 37 14 36417045 36417045 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 14 36417045 36417045 C A SNP ENSG00000257614 ENST00000548199 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-116N8.2 Clone_based_vega_gene ENSG00000258551 0 genome.wustl.edu 37 15 92037034 92037034 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 15 92037034 92037034 C A SNP ENSG00000258551 ENST00000554333 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors RP11-661P17.1 Clone_based_vega_gene ENSG00000259660 0 genome.wustl.edu 37 15 102304296 102304296 + RNA SNP A A C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 15 102304296 102304296 A C SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000261550 0 genome.wustl.edu 37 16 53069821 53069821 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 16 53069821 53069821 G A SNP ENSG00000261550 ENST00000562178 human ensembl 70_37 -1 known rna NULL NULL 0.031 - - - no_errors RP11-467J12.4 Clone_based_vega_gene ENSG00000261799 0 genome.wustl.edu 37 12 385707 385707 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 12 385707 385707 G A SNP ENSG00000261799 ENST00000570140 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-283I3.6 Clone_based_vega_gene ENSG00000263164 0 genome.wustl.edu 37 17 5144336 5144337 + Splice_Site INS - - A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 5144336 5144337 - A INS ENSG00000263164 ENST00000575056 human ensembl 70_37 -1 known splice_site_ins c.NULL NULL 0.000:0.000 - - - no_errors RP11-333E1.2 Clone_based_vega_gene ENSG00000263164 0 genome.wustl.edu 37 17 5144337 5144337 + Splice_Site SNP T T C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 5144337 5144337 T C SNP ENSG00000263164 ENST00000575056 human ensembl 70_37 -1 known splice_site c.NULL NULL 0.000 - - - no_errors RP11-333E1.2 Clone_based_vega_gene ENSG00000264622 0 genome.wustl.edu 37 17 33185972 33185972 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 33185972 33185972 G T SNP ENSG00000264622 ENST00000579327 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-642M2.1 Clone_based_vega_gene ENSG00000266290 0 genome.wustl.edu 37 17 56157804 56157804 + RNA SNP A A G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 56157804 56157804 A G SNP ENSG00000266290 ENST00000584805 human ensembl 70_37 -1 known rna NULL NULL 0.635 - - - no_errors RP11-159D12.10 Clone_based_vega_gene ENSG00000266775 0 genome.wustl.edu 37 17 28885217 28885217 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 28885217 28885217 C A SNP ENSG00000266775 ENST00000582125 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors RP11-218M11.6 Clone_based_vega_gene ENSG00000266775 0 genome.wustl.edu 37 17 28885247 28885247 + RNA SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 28885247 28885247 C T SNP ENSG00000266775 ENST00000582125 human ensembl 70_37 -1 known rna NULL NULL 0.792 - - - no_errors RP11-218M11.6 Clone_based_vega_gene ENSG00000266775 0 genome.wustl.edu 37 17 28885255 28885255 + RNA SNP A A G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 28885255 28885255 A G SNP ENSG00000266775 ENST00000582125 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-218M11.6 Clone_based_vega_gene ENSG00000267012 0 genome.wustl.edu 37 19 32377616 32377616 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 32377616 32377616 G A SNP ENSG00000267012 ENST00000592270 human ensembl 70_37 -1 known rna NULL NULL 0.036 - - - no_errors CTC-360P9.1 Clone_based_vega_gene ENSG00000267222 0 genome.wustl.edu 37 17 40648558 40648559 + RNA INS - - A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 40648558 40648559 - A INS ENSG00000267222 ENST00000591343 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors RP11-194N12.2 Clone_based_vega_gene EVC2 132884 genome.wustl.edu 37 4 5620291 5620291 + Nonsense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 4 5620291 5620291 G A SNP EVC2 ENST00000344408 human ensembl 70_37 -1 known nonsense c.2620 p.R874* 0.988 NULL pfam_Limbin - no_errors EVC2 HGNC EVC2 132884 genome.wustl.edu 37 4 5620291 5620291 + Nonsense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 4 5620291 5620291 G A SNP EVC2 ENST00000344408 human ensembl 70_37 -1 known nonsense c.2620 p.R874* 0.988 NULL pfam_Limbin - no_errors EVC2 HGNC FADS1 3992 genome.wustl.edu 37 11 61574164 61574164 + Nonsense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 61574164 61574164 G T SNP FADS1 ENST00000350997 human ensembl 70_37 -1 known nonsense c.948 p.Y316* 1.000 pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5,prints_Cyt_B5 - no_errors FADS1 HGNC FAM83G 644815 genome.wustl.edu 37 17 18882969 18882969 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 18882969 18882969 G T SNP FAM83G ENST00000345041 human ensembl 70_37 -1 known missense c.708 p.S236R 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83G HGNC FGF21 26291 genome.wustl.edu 37 19 49261353 49261353 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 49261353 49261353 G T SNP FGF21 ENST00000222157 human ensembl 70_37 +1 known missense c.506 p.G169V 0.962 pirsf_Fibroblast_GF_15/19/21 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,pirsf_Fibroblast_GF_15/19/21,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF21 HGNC FHAD1 114827 genome.wustl.edu 37 1 15679414 15679414 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 15679414 15679414 G T SNP FHAD1 ENST00000375999 human ensembl 70_37 +1 known missense c.2430 p.K810N 0.809 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC FMR1 2332 genome.wustl.edu 37 X 147025129 147025129 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 X 147025129 147025129 G T SNP FMR1 ENST00000492846 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors FMR1 HGNC FNDC9 408263 genome.wustl.edu 37 5 156770011 156770011 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 5 156770011 156770011 G A SNP FNDC9 ENST00000312349 human ensembl 70_37 -1 known silent c.534 p.L178 1.000 NULL superfamily_Fibronectin_type3 - no_errors FNDC9 HGNC GATA2 2624 genome.wustl.edu 37 3 128200907 128200907 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 128200907 128200907 G T SNP GATA2 ENST00000489987 human ensembl 70_37 -1 known rna NULL NULL 0.022 - - - no_errors GATA2 HGNC GBA2 57704 genome.wustl.edu 37 9 35741458 35741459 + RNA INS - - T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 9 35741458 35741459 - T INS GBA2 ENST00000485259 human ensembl 70_37 -1 known rna NULL NULL 0.119:0.125 - - - no_errors GBA2 HGNC GOLGA8R 101059918 genome.wustl.edu 37 15 30700159 30700159 + Missense_Mutation SNP A A G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 15 30700159 30700159 A G SNP GOLGA8R ENST00000544495 human ensembl 70_37 -1 known missense c.346 p.W116R 0.002 NULL NULL - no_errors GOLGA8R HGNC GOLGA8R 101059918 genome.wustl.edu 37 15 30700168 30700169 + In_Frame_Ins INS - - TTG TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 15 30700168 30700169 - TTG INS GOLGA8R ENST00000544495 human ensembl 70_37 -1 known in_frame_ins c.337_336 p.112in_frame_insQ 0.000:0.000 NULL NULL - no_errors GOLGA8R HGNC GRID2 2895 genome.wustl.edu 37 4 93225752 93225753 + RNA INS - - A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 4 93225752 93225753 - A INS GRID2 ENST00000505687 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors GRID2 HGNC GRIP2 80852 genome.wustl.edu 37 3 14530730 14530730 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 14530730 14530730 G T SNP GRIP2 ENST00000273083 human ensembl 70_37 -1 known rna NULL NULL 0.971 - - - no_errors GRIP2 HGNC HIST1H3E 8353 genome.wustl.edu 37 6 26225698 26225698 + Missense_Mutation SNP G G C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 6 26225698 26225698 G C SNP HIST1H3E ENST00000360408 human ensembl 70_37 +1 known missense c.316 p.E106Q 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3E HGNC HIST1H3E 8353 genome.wustl.edu 37 6 26225698 26225698 + Missense_Mutation SNP G G C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 6 26225698 26225698 G C SNP HIST1H3E ENST00000360408 human ensembl 70_37 +1 known missense c.316 p.E106Q 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3E HGNC HLA-A 3105 genome.wustl.edu 37 6 29911899 29911900 + Frame_Shift_Ins INS - - C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 6 29911899 29911900 - C INS HLA-A ENST00000376806 human ensembl 70_37 +1 known frame_shift_ins c.620_621 p.K210fs 0.903:0.000 pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC HLA-A 3105 genome.wustl.edu 37 6 29911899 29911900 + Frame_Shift_Ins INS - - C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 6 29911899 29911900 - C INS HLA-A ENST00000376806 human ensembl 70_37 +1 known frame_shift_ins c.620_621 p.K210fs 0.903:0.000 pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC IGSF22 283284 genome.wustl.edu 37 11 18729451 18729451 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 18729451 18729451 G T SNP IGSF22 ENST00000513874 human ensembl 70_37 -1 known missense c.3180 p.F1060L 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF22 HGNC IGSF9B 22997 genome.wustl.edu 37 11 133791101 133791101 + Missense_Mutation SNP T T C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 133791101 133791101 T C SNP IGSF9B ENST00000321016 human ensembl 70_37 -1 known missense c.2519 p.E840G 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9B HGNC IVL 3713 genome.wustl.edu 37 1 152883203 152883203 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 152883203 152883203 G T SNP IVL ENST00000368764 human ensembl 70_37 +1 known missense c.930 p.M310I 0.047 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC KCTD12 115207 genome.wustl.edu 37 13 77460014 77460014 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 13 77460014 77460014 G A SNP KCTD12 ENST00000317765 human ensembl 70_37 -1 known silent c.270 p.R90 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD12 HGNC KIAA2022 340533 genome.wustl.edu 37 X 73962692 73962692 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 X 73962692 73962692 G A SNP KIAA2022 ENST00000055682 human ensembl 70_37 -1 known missense c.1700 p.T567I 1.000 NULL NULL - no_errors KIAA2022 HGNC KIAA2022 340533 genome.wustl.edu 37 X 73962692 73962692 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 X 73962692 73962692 G A SNP KIAA2022 ENST00000055682 human ensembl 70_37 -1 known missense c.1700 p.T567I 1.000 NULL NULL - no_errors KIAA2022 HGNC KRTAP5-5 439915 genome.wustl.edu 37 11 1651625 1651625 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 1651625 1651625 G A SNP KRTAP5-5 ENST00000399676 human ensembl 70_37 +1 known silent c.555 p.Q185 0.483 NULL NULL - no_errors KRTAP5-5 HGNC LARGE 9215 genome.wustl.edu 37 22 33712207 33712207 + Nonsense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 22 33712207 33712207 C A SNP LARGE ENST00000354992 human ensembl 70_37 -1 known nonsense c.1315 p.E439* 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC LOC100130502 100130502 genome.wustl.edu 37 2 45148627 45148627 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 45148627 45148627 G T SNP LOC100130502 ENST00000354756 human ensembl 70_37 -1 known rna NULL NULL 0.074 - - - no_errors RP11-89K21.1 Clone_based_vega_gene LOC100133669 100133669 genome.wustl.edu 37 8 144089674 144089674 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 8 144089674 144089674 C A SNP LOC100133669 ENST00000502167 human ensembl 70_37 -1 known rna NULL NULL 0.474 - - - no_errors RP11-273G15.2 Clone_based_vega_gene LOC401177 401177 genome.wustl.edu 37 5 17380184 17380184 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 5 17380184 17380184 G T SNP LOC401177 ENST00000505158 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2139B15.4 Clone_based_vega_gene LOC440356 440356 genome.wustl.edu 37 16 29875656 29875656 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 16 29875656 29875656 G A SNP LOC440356 ENST00000398859 human ensembl 70_37 +1 known rna NULL NULL 0.042 - - - no_errors CTD-2574D22.5 Clone_based_vega_gene LOC440356 440356 genome.wustl.edu 37 16 29875700 29875700 + RNA SNP G G C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 16 29875700 29875700 G C SNP LOC440356 ENST00000398859 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors CTD-2574D22.5 Clone_based_vega_gene LRIG2 9860 genome.wustl.edu 37 1 113667275 113667275 + RNA SNP C C G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 113667275 113667275 C G SNP LRIG2 ENST00000466161 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors LRIG2 HGNC LTBP3 4054 genome.wustl.edu 37 11 65320673 65320673 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 65320673 65320673 G T SNP LTBP3 ENST00000301873 human ensembl 70_37 -1 known missense c.1025 p.P342H 1.000 superfamily_TB_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP3 HGNC MCM7 4176 genome.wustl.edu 37 7 99695255 99695255 + Nonsense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 7 99695255 99695255 G A SNP MCM7 ENST00000303887 human ensembl 70_37 -1 known nonsense c.1099 p.R367* 1.000 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4 - no_errors MCM7 HGNC MCM7 4176 genome.wustl.edu 37 7 99695255 99695255 + Nonsense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 7 99695255 99695255 G A SNP MCM7 ENST00000303887 human ensembl 70_37 -1 known nonsense c.1099 p.R367* 1.000 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4 - no_errors MCM7 HGNC MEPCE 56257 genome.wustl.edu 37 7 100028535 100028535 + Silent SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 7 100028535 100028535 C A SNP MEPCE ENST00000310512 human ensembl 70_37 +1 known silent c.894 p.G298 0.693 NULL pfam_Bin3 - no_errors MEPCE HGNC MRGPRX4 117196 genome.wustl.edu 37 11 18195401 18195401 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 18195401 18195401 G T SNP MRGPRX4 ENST00000314254 human ensembl 70_37 +1 known missense c.598 p.V200F 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX4 HGNC MUC4 4585 genome.wustl.edu 37 3 195507323 195507323 + Missense_Mutation SNP T T C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 195507323 195507323 T C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.11128 p.T3710A 0.019 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 MUC4 4585 genome.wustl.edu 37 3 195507324 195507324 + Missense_Mutation SNP G G C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 195507324 195507324 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.11127 p.H3709Q 0.278 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 MYADM 91663 genome.wustl.edu 37 19 54376790 54376790 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 54376790 54376790 G A SNP MYADM ENST00000336967 human ensembl 70_37 +1 known missense c.7 p.V3M 0.258 NULL pfam_MARVEL-like_dom - no_errors MYADM HGNC MYCNOS 10408 genome.wustl.edu 37 2 16076490 16076491 + RNA INS - - T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 16076490 16076491 - T INS MYCNOS ENST00000420452 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.002 - - - no_errors MYCNOS HGNC MYH3 4621 genome.wustl.edu 37 17 10541420 10541420 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 10541420 10541420 G A SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known silent c.3669 p.S1223 0.998 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC MYO15A 51168 genome.wustl.edu 37 17 18023480 18023480 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 17 18023480 18023480 G A SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known missense c.1366 p.A456T 0.293 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC NICN1-AS1 100874017 genome.wustl.edu 37 3 49460631 49460631 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 49460631 49460631 G T SNP NICN1-AS1 ENST00000424915 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NICN1-AS1 HGNC NISCH 11188 genome.wustl.edu 37 3 52513765 52513765 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 52513765 52513765 G T SNP NISCH ENST00000345716 human ensembl 70_37 +1 known missense c.1303 p.V435F 1.000 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC P2RX6 9127 genome.wustl.edu 37 22 21380313 21380313 + Missense_Mutation SNP G G C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 22 21380313 21380313 G C SNP P2RX6 ENST00000413302 human ensembl 70_37 +1 known missense c.998 p.G333A 0.909 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX6 HGNC PAN2 9924 genome.wustl.edu 37 12 56720435 56720435 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 12 56720435 56720435 C A SNP PAN2 ENST00000425394 human ensembl 70_37 -1 known missense c.1228 p.D410Y 1.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19 - no_errors PAN2 HGNC PKHD1 5314 genome.wustl.edu 37 6 51701256 51701256 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 6 51701256 51701256 C A SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.8119 p.G2707C 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC PKHD1 5314 genome.wustl.edu 37 6 51701256 51701256 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 6 51701256 51701256 C A SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.8119 p.G2707C 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC PLXNA1 5361 genome.wustl.edu 37 3 126736417 126736417 + Silent SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 126736417 126736417 C T SNP PLXNA1 ENST00000393409 human ensembl 70_37 +1 known silent c.3426 p.T1142 0.873 superfamily_Ig_E-set,smart_IPT_TIG_rcpt 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 PLXNA1 HGNC POLL 27343 genome.wustl.edu 37 10 103341567 103341568 + RNA INS - - T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 10 103341567 103341568 - T INS POLL ENST00000463515 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.002 - - - no_errors POLL HGNC POMZP3 22932 genome.wustl.edu 37 7 76239524 76239524 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 7 76239524 76239524 C A SNP POMZP3 ENST00000454656 human ensembl 70_37 -1 known rna NULL NULL 0.587 - - - no_errors POMZP3 HGNC PRB4 5545 genome.wustl.edu 37 12 11461706 11461706 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 12 11461706 11461706 G T SNP PRB4 ENST00000279575 human ensembl 70_37 -1 known missense c.211 p.P71T 0.001 NULL NULL - no_errors PRB4 HGNC RNASEH1 246243 genome.wustl.edu 37 2 3595526 3595526 + Nonsense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 3595526 3595526 G A SNP RNASEH1 ENST00000315212 human ensembl 70_37 -1 known nonsense c.769 p.Q257* 0.992 pfam_RNaseH_domain,superfamily_RNaseH-like_dom,pirsf_RNase_H1_euk,pfscan_RNaseH_domain pfam_RNaseH_domain,pfam_RNase_H1_N,superfamily_RNaseH-like_dom,superfamily_Ribosomal_L9/RNase_H1_N,pirsf_RNase_H1_euk,pfscan_RNaseH_domain - no_errors RNASEH1 HGNC RNU6-26 100873741 genome.wustl.edu 37 19 1021614 1021614 + RNA SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 1021614 1021614 C T SNP RNU6-26 ENST00000384627 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RNU6-26 HGNC RNU7-22P 100147770 genome.wustl.edu 37 10 32462672 32462673 + RNA INS - - AAAT TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 10 32462672 32462673 - AAAT INS RNU7-22P ENST00000516673 human ensembl 70_37 +1 known rna NULL NULL 0.025:0.047 - - - no_errors RNU7-22P HGNC RYR2 6262 genome.wustl.edu 37 1 237841392 237841392 + Missense_Mutation SNP G G C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 237841392 237841392 G C SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.8869 p.E2957Q 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC RYR2 6262 genome.wustl.edu 37 1 237841392 237841392 + Missense_Mutation SNP G G C TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 237841392 237841392 G C SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.8869 p.E2957Q 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC SETD9 133383 genome.wustl.edu 37 5 56205485 56205485 + Silent SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 5 56205485 56205485 C T SNP SETD9 ENST00000285947 human ensembl 70_37 +1 known silent c.13 p.L5 0.924 NULL NULL - no_errors SETD9 HGNC SLC16A7 9194 genome.wustl.edu 37 12 60168711 60168711 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 12 60168711 60168711 G T SNP SLC16A7 ENST00000261187 human ensembl 70_37 +1 known missense c.635 p.G212V 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A7 HGNC SLC25A3P1 163742 genome.wustl.edu 37 1 53903859 53903859 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 53903859 53903859 G A SNP SLC25A3P1 ENST00000566100 human ensembl 70_37 -1 known rna NULL NULL 0.017 - - - no_errors SLC25A3P1 HGNC SLC27A3 11000 genome.wustl.edu 37 1 153752449 153752449 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 153752449 153752449 G A SNP SLC27A3 ENST00000368661 human ensembl 70_37 +1 known missense c.2164 p.A722T 0.384 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC SLC27A3 11000 genome.wustl.edu 37 1 153752449 153752449 + Missense_Mutation SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 1 153752449 153752449 G A SNP SLC27A3 ENST00000368661 human ensembl 70_37 +1 known missense c.2164 p.A722T 0.384 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC SPTBN5 51332 genome.wustl.edu 37 15 42167077 42167077 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 15 42167077 42167077 G T SNP SPTBN5 ENST00000320955 human ensembl 70_37 -1 known missense c.4465 p.P1489T 0.961 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC SRSF8 10929 genome.wustl.edu 37 11 94801103 94801103 + RNA SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 94801103 94801103 C T SNP SRSF8 ENST00000529911 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SRSF8 HGNC SRSF8 10929 genome.wustl.edu 37 11 94801103 94801103 + RNA SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 11 94801103 94801103 C T SNP SRSF8 ENST00000529911 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SRSF8 HGNC SVIL 6840 genome.wustl.edu 37 10 29783908 29783908 + Missense_Mutation SNP A A G TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 10 29783908 29783908 A G SNP SVIL ENST00000355867 human ensembl 70_37 -1 known missense c.3776 p.M1259T 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors SVIL HGNC TLR8-AS1 349408 genome.wustl.edu 37 X 12921627 12921627 + RNA SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 X 12921627 12921627 C T SNP TLR8-AS1 ENST00000451564 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TLR8-AS1 HGNC TMEM202 338949 genome.wustl.edu 37 15 72698977 72698977 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 15 72698977 72698977 C A SNP TMEM202 ENST00000568167 human ensembl 70_37 +1 known missense c.116 p.S39Y 1.000 NULL NULL - no_errors TMEM202 HGNC TMEM207 131920 genome.wustl.edu 37 3 190147473 190147473 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 190147473 190147473 G T SNP TMEM207 ENST00000354905 human ensembl 70_37 -1 known missense c.352 p.Q118K 0.014 NULL NULL - no_errors TMEM207 HGNC TMEM207 131920 genome.wustl.edu 37 3 190147473 190147473 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 190147473 190147473 G T SNP TMEM207 ENST00000354905 human ensembl 70_37 -1 known missense c.352 p.Q118K 0.014 NULL NULL - no_errors TMEM207 HGNC TNIK 23043 genome.wustl.edu 37 3 171087431 171087431 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 3 171087431 171087431 C A SNP TNIK ENST00000436636 human ensembl 70_37 -1 known missense c.101 p.G34V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC TRAF2 7186 genome.wustl.edu 37 9 139796834 139796834 + RNA SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 9 139796834 139796834 G T SNP TRAF2 ENST00000482854 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TRAF2 HGNC TRAPPC11 60684 genome.wustl.edu 37 4 184618885 184618885 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 4 184618885 184618885 C A SNP TRAPPC11 ENST00000334690 human ensembl 70_37 +1 known missense c.2748 p.D916E 0.440 NULL pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC TRRAP 8295 genome.wustl.edu 37 7 98609721 98609721 + Silent SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 7 98609721 98609721 C A SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known silent c.11323 p.R3775 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC TTN 7273 genome.wustl.edu 37 2 179614007 179614007 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 2 179614007 179614007 G T SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.13120 p.Q4374K 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC TUBGCP2 10844 genome.wustl.edu 37 10 135110841 135110841 + Silent SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 10 135110841 135110841 G A SNP TUBGCP2 ENST00000543663 human ensembl 70_37 -1 known silent c.684 p.C228 0.020 NULL pfam_Spc97_Spc98,superfamily_Ocr - no_errors TUBGCP2 HGNC TXLNG 55787 genome.wustl.edu 37 X 16859626 16859626 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 X 16859626 16859626 C A SNP TXLNG ENST00000380122 human ensembl 70_37 +1 known missense c.1324 p.Q442K 1.000 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNG HGNC ZNF331 55422 genome.wustl.edu 37 19 54040626 54040626 + RNA SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 54040626 54040626 C A SNP ZNF331 ENST00000504033 human ensembl 70_37 +1 known rna NULL NULL 0.026 - - - no_errors ZNF331 HGNC ZNF891 101060200 genome.wustl.edu 37 12 133698315 133698315 + Missense_Mutation SNP G G T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 12 133698315 133698315 G T SNP ZNF891 ENST00000397313 human ensembl 70_37 -1 known missense c.190 p.Q64K 0.388 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 ZNF891 HGNC ZNF91 7644 genome.wustl.edu 37 19 23489882 23489882 + RNA SNP C C T TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 23489882 23489882 C T SNP ZNF91 ENST00000596528 human ensembl 70_37 -1 known rna NULL NULL 0.012 - - - no_errors ZNF91 HGNC ZSCAN5A 79149 genome.wustl.edu 37 19 56778130 56778130 + RNA SNP G G A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5091f550-7ae6-45c2-bceb-725cbf51852c 0499fa6b-957b-4b13-8979-a30ba4dcf1c8 19 56778130 56778130 G A SNP ZSCAN5A ENST00000586031 human ensembl 70_37 -1 known rna NULL NULL 0.051 - - - no_errors ZSCAN5A HGNC