Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ACSS1 0 genome.wustl.edu 37 20 24993469 24993469 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 20 24993469 24993469 G A SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known silent c.1686 p.T562 0.035 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 tier1 - - 48 0 0.00 117 13 10.00 ACSS1 0 genome.wustl.edu 37 20 24993469 24993469 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 20 24993469 24993469 G A SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known silent c.1686 p.T562 0.035 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 tier1 - - 56 0 0.00 117 13 10.00 ACSS3 0 genome.wustl.edu 37 12 81593158 81593158 + Missense_Mutation SNP T T C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 81593158 81593158 T C SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known missense c.1289 p.V430A 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 tier1 - - 25 0 0.00 25 6 19.35 ACSS3 0 genome.wustl.edu 37 12 81593158 81593158 + Missense_Mutation SNP T T C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 81593158 81593158 T C SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known missense c.1289 p.V430A 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 tier1 - - 31 0 0.00 25 6 19.35 ADAMTSL1 0 genome.wustl.edu 37 9 18775842 18775842 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 9 18775842 18775842 G A SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel silent c.2499 p.P833 0.013 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 tier1 - - 51 0 0.00 39 15 27.27 ADAMTSL1 0 genome.wustl.edu 37 9 18775842 18775842 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 9 18775842 18775842 G A SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel silent c.2499 p.P833 0.013 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 tier1 - - 65 0 0.00 39 15 27.27 ADCY10 0 genome.wustl.edu 37 1 167805612 167805612 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 167805612 167805612 C T SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known missense c.3244 p.D1082N 0.003 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 tier1 - - 14 0 0.00 8 11 57.89 ADCY10 0 genome.wustl.edu 37 1 167805612 167805612 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 167805612 167805612 C T SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known missense c.3244 p.D1082N 0.003 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 tier1 - - 27 0 0.00 8 11 57.89 AHNAK2 0 genome.wustl.edu 37 14 105418612 105418612 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 14 105418612 105418612 G T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.3176 p.A1059D 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 91 0 0.00 114 12 9.52 AHNAK2 0 genome.wustl.edu 37 14 105418612 105418612 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 14 105418612 105418612 G T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.3176 p.A1059D 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 94 0 0.00 114 12 9.52 AK9 0 genome.wustl.edu 37 6 109854548 109854548 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 6 109854548 109854548 C T SNP AK9 ENST00000424296 human ensembl 74_37 -1 known missense c.3476 p.R1159H 0.997 pfam_Adenylate_kin,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 tier1 - - 50 0 0.00 33 12 26.09 AK9 0 genome.wustl.edu 37 6 109854548 109854548 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 6 109854548 109854548 C T SNP AK9 ENST00000424296 human ensembl 74_37 -1 known missense c.3476 p.R1159H 0.997 pfam_Adenylate_kin,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 tier1 - - 56 0 0.00 33 12 26.09 ANAPC2 0 genome.wustl.edu 37 9 140070321 140070321 + RNA SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 9 140070321 140070321 C T SNP ANAPC2 ENST00000487917 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANAPC2 HGNC ENSG00000176248 tier1 - - 36 0 0.00 46 7 13.21 ANAPC2 0 genome.wustl.edu 37 9 140070321 140070321 + RNA SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 9 140070321 140070321 C T SNP ANAPC2 ENST00000487917 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANAPC2 HGNC ENSG00000176248 tier1 - - 56 0 0.00 46 7 13.21 ANK3 0 genome.wustl.edu 37 10 61829891 61829891 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 10 61829891 61829891 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.10748 p.T3583M 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 34 0 0.00 33 28 45.90 ANK3 0 genome.wustl.edu 37 10 61829891 61829891 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 10 61829891 61829891 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.10748 p.T3583M 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 40 0 0.00 33 28 45.90 ANKRD30BL 0 genome.wustl.edu 37 2 133015445 133015445 + RNA SNP C C G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 133015445 133015445 C G SNP ANKRD30BL ENST00000470729 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ANKRD30BL HGNC ENSG00000163046 tier1 - - 80 0 0.00 117 17 12.69 AOX1 0 genome.wustl.edu 37 2 201470309 201470309 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 201470309 201470309 G T SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known missense c.865 p.D289Y 0.059 pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 tier1 - - 46 0 0.00 51 14 21.54 AOX1 0 genome.wustl.edu 37 2 201470309 201470309 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 201470309 201470309 G T SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known missense c.865 p.D289Y 0.059 pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 tier1 - - 50 0 0.00 51 14 21.54 ARHGAP5 0 genome.wustl.edu 37 14 32561340 32561340 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 14 32561340 32561340 G A SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.1465 p.E489K 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 tier1 rs78337553 - 37 0 0.00 64 6 8.57 ARHGEF10 0 genome.wustl.edu 37 8 1853763 1853763 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 8 1853763 1853763 C T SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known silent c.1923 p.L641 0.976 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 tier1 rs146717173 - 59 0 0.00 110 19 14.73 ARHGEF10 0 genome.wustl.edu 37 8 1853763 1853763 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 8 1853763 1853763 C T SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known silent c.1923 p.L641 0.976 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 tier1 rs146717173 - 64 0 0.00 110 19 14.73 ARVCF 0 genome.wustl.edu 37 22 19958768 19958768 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 22 19958768 19958768 C T SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.2872 p.V958I 0.998 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 tier1 rs72554700 - 31 0 0.00 40 9 18.37 ARVCF 0 genome.wustl.edu 37 22 19958768 19958768 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 22 19958768 19958768 C T SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.2872 p.V958I 0.998 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 tier1 rs72554700 - 50 0 0.00 40 9 18.37 ATL3 0 genome.wustl.edu 37 11 63426708 63426708 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 63426708 63426708 G T SNP ATL3 ENST00000332645 human ensembl 74_37 -1 known missense c.219 p.S73R 0.000 superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors ATL3 HGNC ENSG00000184743 35 0 0.00 38 2 5.00 ATP8A2 0 genome.wustl.edu 37 13 26106431 26106431 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 13 26106431 26106431 G T SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.442 p.A148S 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A2 HGNC ENSG00000132932 18 0 0.00 28 4 12.50 BBS10 0 genome.wustl.edu 37 12 76741020 76741020 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 76741020 76741020 G T SNP BBS10 ENST00000393262 human ensembl 74_37 -1 known missense c.745 p.R249S 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS10 HGNC ENSG00000179941 19 0 0.00 34 2 5.56 BRD2 0 genome.wustl.edu 37 6 32947844 32947844 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 6 32947844 32947844 C T SNP BRD2 ENST00000395289 human ensembl 74_37 +1 known missense c.2186 p.S729F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 tier1 - - 19 0 0.00 15 8 34.78 BRD2 0 genome.wustl.edu 37 6 32947844 32947844 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 6 32947844 32947844 C T SNP BRD2 ENST00000395289 human ensembl 74_37 +1 known missense c.2186 p.S729F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 tier1 - - 29 0 0.00 15 8 34.78 C11orf35 0 genome.wustl.edu 37 11 556252 556252 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 556252 556252 G A SNP C11orf35 ENST00000329451 human ensembl 74_37 -1 known silent c.1197 p.F399 0.913 pfam_Lamin_tail_dom pfam_Lamin_tail_dom - no_errors C11orf35 HGNC ENSG00000185522 tier1 - - 12 0 0.00 20 6 23.08 C5orf60 0 genome.wustl.edu 37 5 179069468 179069468 + Missense_Mutation SNP A A G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 5 179069468 179069468 A G SNP C5orf60 ENST00000448248 human ensembl 74_37 -1 known missense c.706 p.W236R 0.002 NULL NULL - no_errors C5orf60 HGNC ENSG00000204661 94 0 0.00 67 4 5.63 CAPS2 0 genome.wustl.edu 37 12 75669885 75669885 + RNA SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 75669885 75669885 C T SNP CAPS2 ENST00000409004 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CAPS2 HGNC ENSG00000180881 tier1 - - 30 0 0.00 23 14 37.84 CAPS2 0 genome.wustl.edu 37 12 75669885 75669885 + RNA SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 75669885 75669885 C T SNP CAPS2 ENST00000409004 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CAPS2 HGNC ENSG00000180881 tier1 - - 32 0 0.00 23 14 37.84 CCAR2 0 genome.wustl.edu 37 8 22473699 22473699 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 8 22473699 22473699 G T SNP CCAR2 ENST00000308511 human ensembl 74_37 +1 known missense c.1783 p.V595F 0.988 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 24 0 0.00 34 4 10.53 CCL20 0 genome.wustl.edu 37 2 228680209 228680209 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 228680209 228680209 G T SNP CCL20 ENST00000358813 human ensembl 74_37 +1 known missense c.116 p.R39L 0.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL20 HGNC ENSG00000115009 tier1 - - 19 0 0.00 27 6 18.18 CCL20 0 genome.wustl.edu 37 2 228680209 228680209 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 228680209 228680209 G T SNP CCL20 ENST00000358813 human ensembl 74_37 +1 known missense c.116 p.R39L 0.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL20 HGNC ENSG00000115009 tier1 - - 20 0 0.00 27 6 18.18 CDC27 0 genome.wustl.edu 37 17 45234397 45234397 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 17 45234397 45234397 G A SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known missense c.724 p.P242S 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 tier1 rs7350908 - 41 0 0.00 45 5 10.00 CDH19 0 genome.wustl.edu 37 18 64172263 64172263 + Missense_Mutation SNP T T C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 18 64172263 64172263 T C SNP CDH19 ENST00000262150 human ensembl 74_37 -1 known missense c.2105 p.K702R 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 tier1 - - 27 0 0.00 50 6 10.71 CDH19 0 genome.wustl.edu 37 18 64211432 64211432 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 18 64211432 64211432 G A SNP CDH19 ENST00000262150 human ensembl 74_37 -1 known silent c.990 p.Y330 0.029 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 tier1 - - 43 0 0.00 57 76 57.14 CDH19 0 genome.wustl.edu 37 18 64211432 64211432 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 18 64211432 64211432 G A SNP CDH19 ENST00000262150 human ensembl 74_37 -1 known silent c.990 p.Y330 0.029 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 tier1 - - 65 0 0.00 57 76 57.14 CDH7 0 genome.wustl.edu 37 18 63430217 63430217 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 18 63430217 63430217 C T SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.139 p.R47C 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 tier1 - - 48 0 0.00 40 95 70.37 CDH7 0 genome.wustl.edu 37 18 63430217 63430217 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 18 63430217 63430217 C T SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.139 p.R47C 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 tier1 - - 64 0 0.00 40 95 70.37 CDK13 0 genome.wustl.edu 37 7 40027387 40027387 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 7 40027387 40027387 C T SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known silent c.1401 p.A467 0.995 NULL pfam_Prot_kinase_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_dom - no_errors CDK13 HGNC ENSG00000065883 tier1 rs137937704 - 29 0 0.00 34 5 12.82 CDYL 0 genome.wustl.edu 37 6 4954289 4954289 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 6 4954289 4954289 G A SNP CDYL ENST00000328908 human ensembl 74_37 +1 known silent c.1796 p.*599 0.999 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 25 0 0.00 25 4 13.79 CEL 0 genome.wustl.edu 37 9 135945988 135945988 + Missense_Mutation SNP A A G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 9 135945988 135945988 A G SNP CEL ENST00000372080 human ensembl 74_37 +1 known missense c.1436 p.Q479R 0.831 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 tier1 rs201074543 - 43 0 0.00 65 7 9.72 CHAF1A 0 genome.wustl.edu 37 19 4423372 4423372 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 4423372 4423372 C T SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known missense c.1288 p.R430W 1.000 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 tier1 - - 23 0 0.00 23 9 28.12 CHAF1A 0 genome.wustl.edu 37 19 4423372 4423372 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 4423372 4423372 C T SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known missense c.1288 p.R430W 1.000 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 tier1 - - 34 0 0.00 23 9 28.12 CHDC2 0 genome.wustl.edu 37 X 36162682 36162682 + Missense_Mutation SNP G G C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 X 36162682 36162682 G C SNP CHDC2 ENST00000313548 human ensembl 74_37 +1 known missense c.1265 p.C422S 0.050 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors CHDC2 HGNC ENSG00000176034 25 0 0.00 26 6 18.75 CHSY1 0 genome.wustl.edu 37 15 101718437 101718437 + Missense_Mutation SNP G G C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 15 101718437 101718437 G C SNP CHSY1 ENST00000254190 human ensembl 74_37 -1 known missense c.1565 p.S522W 0.872 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY1 HGNC ENSG00000131873 tier1 - - 30 0 0.00 40 10 20.00 CHSY1 0 genome.wustl.edu 37 15 101718437 101718437 + Missense_Mutation SNP G G C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 15 101718437 101718437 G C SNP CHSY1 ENST00000254190 human ensembl 74_37 -1 known missense c.1565 p.S522W 0.872 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY1 HGNC ENSG00000131873 tier1 - - 31 0 0.00 40 10 20.00 COL6A3 0 genome.wustl.edu 37 2 238280601 238280601 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 238280601 238280601 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.4059 p.D1353 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 35 0 0.00 18 13 41.94 COL6A3 0 genome.wustl.edu 37 2 238280601 238280601 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 238280601 238280601 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.4059 p.D1353 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 39 0 0.00 18 13 41.94 COX8C 0 genome.wustl.edu 37 14 93813699 93813699 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 14 93813699 93813699 G A SNP COX8C ENST00000342144 human ensembl 74_37 +1 known missense c.85 p.A29T 0.001 NULL pfam_Cyt_c_oxidase_su8,superfamily_Cyt_c_oxidase_su8 - no_errors COX8C HGNC ENSG00000187581 tier1 - - 13 0 0.00 15 19 55.88 CSMD1 0 genome.wustl.edu 37 8 2986325 2986326 + RNA INS - - T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 8 2986325 2986326 - T INS CSMD1 ENST00000523387 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors CSMD1 HGNC ENSG00000183117 tier1 13 0 0.00 35 7 16.67 CSMD1 0 genome.wustl.edu 37 8 2986325 2986326 + RNA INS - - T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 8 2986325 2986326 - T INS CSMD1 ENST00000523387 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors CSMD1 HGNC ENSG00000183117 tier1 16 0 0.00 35 7 16.67 CXorf67 0 genome.wustl.edu 37 X 51150911 51150911 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 X 51150911 51150911 G A SNP CXorf67 ENST00000342995 human ensembl 74_37 +1 known missense c.1043 p.R348H 0.000 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 tier1 - - 104 0 0.00 92 11 10.58 CXorf67 0 genome.wustl.edu 37 X 51150911 51150911 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 X 51150911 51150911 G A SNP CXorf67 ENST00000342995 human ensembl 74_37 +1 known missense c.1043 p.R348H 0.000 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 tier1 - - 83 0 0.00 92 11 10.58 DEFB124 0 genome.wustl.edu 37 20 30060720 30060721 + RNA INS - - CA TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 20 30060720 30060721 - CA INS DEFB124 ENST00000481595 human ensembl 74_37 -1 known rna NULL NULL 0.259:0.435 - - - no_errors DEFB124 HGNC ENSG00000180383 tier1 8 0 0.00 16 12 42.86 DIAPH2 0 genome.wustl.edu 37 X 96013192 96013192 + Nonsense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 X 96013192 96013192 C T SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known nonsense c.382 p.R128* 1.000 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 tier1 - - 33 0 0.00 47 4 7.84 DIAPH2 0 genome.wustl.edu 37 X 96013192 96013192 + Nonsense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 X 96013192 96013192 C T SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known nonsense c.382 p.R128* 1.000 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 tier1 - - 34 0 0.00 47 4 7.84 DMRTC1 0 genome.wustl.edu 37 X 72094776 72094776 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 X 72094776 72094776 G A SNP DMRTC1 ENST00000373529 human ensembl 74_37 -1 known missense c.140 p.A47V 0.001 NULL NULL - no_errors DMRTC1 HGNC ENSG00000159123 tier1 rs200698413 - 9 0 0.00 4 4 50.00 DNAH10 0 genome.wustl.edu 37 12 124256179 124256179 + Silent SNP A A G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 124256179 124256179 A G SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.147 p.L49 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 24 0 0.00 20 15 42.86 DNAH10 0 genome.wustl.edu 37 12 124256179 124256179 + Silent SNP A A G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 124256179 124256179 A G SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.147 p.L49 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 25 0 0.00 20 15 42.86 DNAJC12 0 genome.wustl.edu 37 10 69571381 69571381 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 10 69571381 69571381 C T SNP DNAJC12 ENST00000225171 human ensembl 74_37 -1 known silent c.198 p.L66 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC12 HGNC ENSG00000108176 tier1 - - 38 0 0.00 20 19 48.72 DNAJC12 0 genome.wustl.edu 37 10 69571381 69571381 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 10 69571381 69571381 C T SNP DNAJC12 ENST00000225171 human ensembl 74_37 -1 known silent c.198 p.L66 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC12 HGNC ENSG00000108176 tier1 - - 48 0 0.00 20 19 48.72 DNM1P47 0 genome.wustl.edu 37 15 102304262 102304264 + RNA DEL GCT GCT - TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 15 102304262 102304264 GCT - DEL DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.999:1.000:1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 9 0 0.00 5 3 37.50 DPP6 0 genome.wustl.edu 37 7 154681223 154681223 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 7 154681223 154681223 G A SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.2434 p.A812T 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 tier1 - - 29 0 0.00 28 6 17.65 DPP6 0 genome.wustl.edu 37 7 154681223 154681223 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 7 154681223 154681223 G A SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.2434 p.A812T 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 tier1 - - 34 0 0.00 28 6 17.65 DSEL 0 genome.wustl.edu 37 18 65181541 65181541 + Missense_Mutation SNP G G C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 18 65181541 65181541 G C SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.335 p.T112R 0.014 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 - - 43 0 0.00 94 12 11.32 DSEL 0 genome.wustl.edu 37 18 65181541 65181541 + Missense_Mutation SNP G G C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 18 65181541 65181541 G C SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.335 p.T112R 0.014 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 - - 68 0 0.00 94 12 11.32 DST 0 genome.wustl.edu 37 6 56494092 56494092 + Silent SNP T T C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 6 56494092 56494092 T C SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.4332 p.Q1444 0.988 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 63 0 0.00 38 37 49.33 DST 0 genome.wustl.edu 37 6 56494092 56494092 + Silent SNP T T C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 6 56494092 56494092 T C SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.4332 p.Q1444 0.988 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 76 0 0.00 38 37 49.33 DUOXA2 0 genome.wustl.edu 37 15 45406923 45406923 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 15 45406923 45406923 C T SNP DUOXA2 ENST00000323030 human ensembl 74_37 +1 known silent c.120 p.L40 1.000 pfam_Dual_oxidase_maturation_fac pfam_Dual_oxidase_maturation_fac - no_errors DUOXA2 HGNC ENSG00000140274 tier1 - - 76 0 0.00 67 14 17.28 DUOXA2 0 genome.wustl.edu 37 15 45406923 45406923 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 15 45406923 45406923 C T SNP DUOXA2 ENST00000323030 human ensembl 74_37 +1 known silent c.120 p.L40 1.000 pfam_Dual_oxidase_maturation_fac pfam_Dual_oxidase_maturation_fac - no_errors DUOXA2 HGNC ENSG00000140274 tier1 - - 84 0 0.00 67 14 17.28 EIF4G3 0 genome.wustl.edu 37 1 21191175 21191175 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 21191175 21191175 G T SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known missense c.2650 p.L884M 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 36 0 0.00 61 4 6.15 EIF5 0 genome.wustl.edu 37 14 103804756 103804757 + In_Frame_Ins INS - - CAC TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 14 103804756 103804757 - CAC INS EIF5 ENST00000216554 human ensembl 74_37 +1 known in_frame_ins c.532_533 p.182in_frame_insP 1.000:1.000 NULL pfam_Transl_init_fac_IF2/IF5,pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5,smart_W2_domain - no_errors EIF5 HGNC ENSG00000100664 tier1 11 0 0.00 14 9 39.13 ENSG00000182873 0 genome.wustl.edu 37 1 2113691 2113691 + RNA SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 2113691 2113691 G T SNP ENSG00000182873 ENST00000333854 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-181G12.2 Clone_based_vega_gene ENSG00000182873 tier1 - - 61 0 0.00 38 20 34.48 ENSG00000182873 0 genome.wustl.edu 37 1 2113691 2113691 + RNA SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 2113691 2113691 G T SNP ENSG00000182873 ENST00000333854 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-181G12.2 Clone_based_vega_gene ENSG00000182873 tier1 - - 64 0 0.00 38 20 34.48 ENSG00000188850 0 genome.wustl.edu 37 5 43348816 43348817 + RNA INS - - A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 5 43348816 43348817 - A INS ENSG00000188850 ENST00000511991 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors RP11-159F24.2 Clone_based_vega_gene ENSG00000188850 tier1 11 0 0.00 11 3 21.43 ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117787 117787 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 GL000205.1 117787 117787 G A SNP ENSG00000212884 ENST00000391571 human ensembl 74_37 +1 known missense c.418 p.G140R NULL NULL pfam_D-isomer_2_OHA_DH_cat_dom - no_errors AC011841.1 Clone_based_ensembl_gene ENSG00000212884 tier1 - - 83 0 0.00 82 20 19.61 ENSG00000255621 0 genome.wustl.edu 37 12 13153388 13153388 + RNA SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 13153388 13153388 G T SNP ENSG00000255621 ENST00000543321 human ensembl 74_37 +1 known rna NULL NULL 0.055 - - - no_errors RP11-377D9.3 Clone_based_vega_gene ENSG00000255621 tier1 rs77117939 - 13 0 0.00 6 4 40.00 ENSG00000272851 0 genome.wustl.edu 37 2 208619067 208619067 + RNA SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 208619067 208619067 G A SNP ENSG00000272851 ENST00000609146 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-801F7.1 Clone_based_vega_gene ENSG00000272851 tier1 rs74909259 - 32 0 0.00 46 4 8.00 EPHA1-AS1 0 genome.wustl.edu 37 7 143219877 143219877 + RNA SNP G G C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 7 143219877 143219877 G C SNP EPHA1-AS1 ENST00000429289 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors EPHA1-AS1 HGNC ENSG00000229153 tier1 - - 18 0 0.00 38 9 19.15 EPHA1-AS1 0 genome.wustl.edu 37 7 143219877 143219877 + RNA SNP G G C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 7 143219877 143219877 G C SNP EPHA1-AS1 ENST00000429289 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors EPHA1-AS1 HGNC ENSG00000229153 tier1 - - 20 0 0.00 38 9 19.15 ERBB3 0 genome.wustl.edu 37 12 56494025 56494025 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 56494025 56494025 G T SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.3197 p.C1066F 0.002 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 tier1 - - 31 0 0.00 36 12 25.00 ERBB3 0 genome.wustl.edu 37 12 56494025 56494025 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 56494025 56494025 G T SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.3197 p.C1066F 0.002 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 tier1 - - 35 0 0.00 36 12 25.00 ESR2 0 genome.wustl.edu 37 14 64727213 64727213 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 14 64727213 64727213 G A SNP ESR2 ENST00000341099 human ensembl 74_37 -1 known silent c.906 p.A302 0.007 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR2 HGNC ENSG00000140009 tier1 - - 51 0 0.00 46 27 36.99 ESR2 0 genome.wustl.edu 37 14 64727213 64727213 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 14 64727213 64727213 G A SNP ESR2 ENST00000341099 human ensembl 74_37 -1 known silent c.906 p.A302 0.007 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR2 HGNC ENSG00000140009 tier1 - - 77 0 0.00 46 27 36.99 FAM126B 0 genome.wustl.edu 37 2 201846546 201846546 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 201846546 201846546 G A SNP FAM126B ENST00000418596 human ensembl 74_37 -1 known missense c.1040 p.A347V 1.000 NULL pfam_Hyccin - no_errors FAM126B HGNC ENSG00000155744 tier1 - - 19 0 0.00 31 12 27.91 FAM126B 0 genome.wustl.edu 37 2 201846546 201846546 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 201846546 201846546 G A SNP FAM126B ENST00000418596 human ensembl 74_37 -1 known missense c.1040 p.A347V 1.000 NULL pfam_Hyccin - no_errors FAM126B HGNC ENSG00000155744 tier1 - - 25 0 0.00 31 12 27.91 FAM138D 0 genome.wustl.edu 37 12 148078 148078 + RNA SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 148078 148078 G A SNP FAM138D ENST00000320165 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM138D HGNC ENSG00000206114 tier1 rs8181620 - 8 0 0.00 5 7 58.33 FAM182B 0 genome.wustl.edu 37 20 25745639 25745640 + Splice_Site INS - - AGAG TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 20 25745639 25745640 - AGAG INS FAM182B ENST00000376404 human ensembl 74_37 -1 known splice_site_ins c.202-3_202-2 e2-2 0.078:0.082 - - - no_errors FAM182B HGNC ENSG00000175170 tier1 23 0 0.00 61 16 20.78 FCRL4 0 genome.wustl.edu 37 1 157551430 157551430 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 157551430 157551430 G A SNP FCRL4 ENST00000271532 human ensembl 74_37 -1 known silent c.1140 p.T380 0.000 NULL pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL4 HGNC ENSG00000163518 tier1 - - 25 0 0.00 34 13 27.66 FCRL4 0 genome.wustl.edu 37 1 157551430 157551430 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 157551430 157551430 G A SNP FCRL4 ENST00000271532 human ensembl 74_37 -1 known silent c.1140 p.T380 0.000 NULL pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL4 HGNC ENSG00000163518 tier1 - - 36 0 0.00 34 13 27.66 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74957871 74957871 + Missense_Mutation SNP A A G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 74957871 74957871 A G SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.2614 p.S872G 1.000 NULL pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 tier1 - - 51 0 0.00 63 7 10.00 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74957871 74957871 + Missense_Mutation SNP A A G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 74957871 74957871 A G SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.2614 p.S872G 1.000 NULL pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 tier1 - - 59 0 0.00 63 7 10.00 GABBR2 0 genome.wustl.edu 37 9 101340276 101340276 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 9 101340276 101340276 C T SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known missense c.400 p.V134I 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 tier1 - - 47 0 0.00 57 7 10.94 GABBR2 0 genome.wustl.edu 37 9 101340276 101340276 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 9 101340276 101340276 C T SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known missense c.400 p.V134I 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 tier1 - - 59 0 0.00 57 7 10.94 GIGYF2 0 genome.wustl.edu 37 2 233651989 233651989 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 233651989 233651989 G A SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known missense c.728 p.R243Q 0.999 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 tier1 - - 46 0 0.00 52 6 10.34 GLI3 0 genome.wustl.edu 37 7 42005959 42005959 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 7 42005959 42005959 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.2712 p.R904 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 tier1 - - 36 0 0.00 30 19 38.78 GLUD2 0 genome.wustl.edu 37 X 120182347 120182347 + Missense_Mutation SNP C C A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 X 120182347 120182347 C A SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known missense c.809 p.S270Y 0.995 pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 tier1 - - 103 0 0.00 105 19 15.32 GLUD2 0 genome.wustl.edu 37 X 120182347 120182347 + Missense_Mutation SNP C C A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 X 120182347 120182347 C A SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known missense c.809 p.S270Y 0.995 pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 tier1 - - 117 0 0.00 105 19 15.32 GNG4 0 genome.wustl.edu 37 1 235715256 235715256 + RNA SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 235715256 235715256 C T SNP GNG4 ENST00000484517 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GNG4 HGNC ENSG00000168243 tier1 - - 8 0 0.00 11 4 26.67 GNG4 0 genome.wustl.edu 37 1 235715256 235715256 + RNA SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 235715256 235715256 C T SNP GNG4 ENST00000484517 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GNG4 HGNC ENSG00000168243 tier1 - - 9 0 0.00 11 4 26.67 GNPTAB 0 genome.wustl.edu 37 12 102158696 102158696 + Missense_Mutation SNP C C G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 102158696 102158696 C G SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known missense c.1999 p.E667Q 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 tier1 - - 27 0 0.00 27 13 32.50 GNPTAB 0 genome.wustl.edu 37 12 102158696 102158696 + Missense_Mutation SNP C C G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 102158696 102158696 C G SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known missense c.1999 p.E667Q 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 tier1 - - 32 0 0.00 27 13 32.50 GOT1L1 0 genome.wustl.edu 37 8 37791833 37791834 + Frame_Shift_Ins INS - - T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 8 37791833 37791834 0 T INS GOT1L1 ENST00000307599 human ensembl 74_37 -1 known frame_shift_ins c.1244_1243 p.T415fs 0.000:0.000 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans - no_errors GOT1L1 HGNC ENSG00000169154 45 0 0.00 115 11 8.73 HEATR4 0 genome.wustl.edu 37 14 73962027 73962027 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 14 73962027 73962027 C T SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known missense c.2690 p.G897E 0.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 tier1 - - 54 0 0.00 53 25 32.05 HEATR4 0 genome.wustl.edu 37 14 73962027 73962027 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 14 73962027 73962027 C T SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known missense c.2690 p.G897E 0.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 tier1 - - 63 0 0.00 53 25 32.05 HM13 0 genome.wustl.edu 37 20 30142485 30142485 + RNA DEL A A - TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 20 30142485 30142485 A - DEL HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.172 - - - no_errors HM13 HGNC ENSG00000101294 tier1 17 0 0.00 32 6 15.79 HOOK2 0 genome.wustl.edu 37 19 12874386 12874386 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 12874386 12874386 G A SNP HOOK2 ENST00000397668 human ensembl 74_37 -1 known missense c.1966 p.R656W 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 tier1 - - 48 0 0.00 40 19 32.20 HOOK2 0 genome.wustl.edu 37 19 12874386 12874386 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 12874386 12874386 G A SNP HOOK2 ENST00000397668 human ensembl 74_37 -1 known missense c.1966 p.R656W 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 tier1 - - 57 0 0.00 40 19 32.20 HSPA2 0 genome.wustl.edu 37 14 65009115 65009115 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 14 65009115 65009115 C T SNP HSPA2 ENST00000247207 human ensembl 74_37 +1 known silent c.1548 p.D516 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 21 0 0.00 43 3 6.52 HTR1E 0 genome.wustl.edu 37 6 87725546 87725546 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 6 87725546 87725546 G A SNP HTR1E ENST00000305344 human ensembl 74_37 +1 known missense c.494 p.R165H 0.080 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 tier1 - - 31 0 0.00 30 4 11.76 HTR1E 0 genome.wustl.edu 37 6 87725546 87725546 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 6 87725546 87725546 G A SNP HTR1E ENST00000305344 human ensembl 74_37 +1 known missense c.494 p.R165H 0.080 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 tier1 - - 34 0 0.00 30 4 11.76 HTR7 0 genome.wustl.edu 37 10 92503625 92503625 + Missense_Mutation SNP C C A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 10 92503625 92503625 C A SNP HTR7 ENST00000371721 human ensembl 74_37 -1 known missense c.1376 p.C459F 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC ENSG00000148680 tier1 - - 22 0 0.00 16 28 63.64 HTR7 0 genome.wustl.edu 37 10 92503625 92503625 + Missense_Mutation SNP C C A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 10 92503625 92503625 C A SNP HTR7 ENST00000371721 human ensembl 74_37 -1 known missense c.1376 p.C459F 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC ENSG00000148680 tier1 - - 34 0 0.00 16 28 63.64 IGSF10 0 genome.wustl.edu 37 3 151165454 151165454 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 3 151165454 151165454 C T SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.2315 p.R772Q 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 tier1 - - 54 0 0.00 114 7 5.79 IGSF22 0 genome.wustl.edu 37 11 18741278 18741278 + Missense_Mutation SNP C C G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 18741278 18741278 C G SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known missense c.681 p.K227N 1.000 NULL 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_dom - no_errors IGSF22 HGNC ENSG00000179057 tier1 - - 56 0 0.00 49 40 44.94 IGSF22 0 genome.wustl.edu 37 11 18741278 18741278 + Missense_Mutation SNP C C G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 18741278 18741278 C G SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known missense c.681 p.K227N 1.000 NULL 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_dom - no_errors IGSF22 HGNC ENSG00000179057 tier1 - - 79 0 0.00 49 40 44.94 IL22RA1 0 genome.wustl.edu 37 1 24447957 24447957 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 24447957 24447957 C T SNP IL22RA1 ENST00000270800 human ensembl 74_37 -1 novel missense c.1063 p.A355T 0.000 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL22RA1 HGNC ENSG00000142677 tier1 - - 81 0 0.00 72 9 11.11 IL22RA1 0 genome.wustl.edu 37 1 24447957 24447957 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 24447957 24447957 C T SNP IL22RA1 ENST00000270800 human ensembl 74_37 -1 novel missense c.1063 p.A355T 0.000 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL22RA1 HGNC ENSG00000142677 tier1 - - 83 0 0.00 72 9 11.11 IQCE 0 genome.wustl.edu 37 7 2638117 2638117 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 7 2638117 2638117 C T SNP IQCE ENST00000402050 human ensembl 74_37 +1 known missense c.1459 p.P487S 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCE HGNC ENSG00000106012 tier1 - - 61 0 0.00 59 38 39.18 IQCE 0 genome.wustl.edu 37 7 2638117 2638117 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 7 2638117 2638117 C T SNP IQCE ENST00000402050 human ensembl 74_37 +1 known missense c.1459 p.P487S 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCE HGNC ENSG00000106012 tier1 - - 76 0 0.00 59 38 39.18 ITPR2 0 genome.wustl.edu 37 12 26774191 26774191 + Nonsense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 26774191 26774191 G T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known nonsense c.3327 p.Y1109* 1.000 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 tier1 - - 38 0 0.00 59 4 6.35 ITPR2 0 genome.wustl.edu 37 12 26774191 26774191 + Nonsense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 26774191 26774191 G T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known nonsense c.3327 p.Y1109* 1.000 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 tier1 - - 66 0 0.00 59 4 6.35 JMY 0 genome.wustl.edu 37 5 78610246 78610246 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 5 78610246 78610246 G A SNP JMY ENST00000396137 human ensembl 74_37 +1 known missense c.2231 p.R744H 0.000 NULL pfscan_WH2_dom - no_errors JMY HGNC ENSG00000152409 37 0 0.00 34 2 5.56 KCNT2 0 genome.wustl.edu 37 1 196459055 196459055 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 196459055 196459055 C T SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.188 p.R63H 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 18 0 0.00 8 6 42.86 KCNT2 0 genome.wustl.edu 37 1 196459055 196459055 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 196459055 196459055 C T SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.188 p.R63H 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 22 0 0.00 8 6 42.86 KDM4C 0 genome.wustl.edu 37 9 6793029 6793029 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 9 6793029 6793029 G T SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known missense c.41 p.C14F 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 tier1 - - 32 0 0.00 51 4 7.27 KDM4C 0 genome.wustl.edu 37 9 6793029 6793029 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 9 6793029 6793029 G T SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known missense c.41 p.C14F 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 tier1 - - 45 0 0.00 51 4 7.27 KHNYN 0 genome.wustl.edu 37 14 24900129 24900130 + Frame_Shift_Del DEL AG AG - TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 14 24900129 24900130 AG - DEL KHNYN ENST00000251343 human ensembl 74_37 +1 known frame_shift_del c.193_194 p.R65fs 1.000:1.000 NULL pfam_RNase_Zc3h12 - no_errors KHNYN HGNC ENSG00000100441 tier1 41 0 0.00 26 17 39.53 KHNYN 0 genome.wustl.edu 37 14 24900129 24900130 + Frame_Shift_Del DEL AG AG - TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 14 24900129 24900130 AG - DEL KHNYN ENST00000251343 human ensembl 74_37 +1 known frame_shift_del c.193_194 p.R65fs 1.000:1.000 NULL pfam_RNase_Zc3h12 - no_errors KHNYN HGNC ENSG00000100441 tier1 53 0 0.00 26 17 39.53 KIAA1211L 0 genome.wustl.edu 37 2 99449396 99449396 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 99449396 99449396 C T SNP KIAA1211L ENST00000397899 human ensembl 74_37 -1 known missense c.304 p.G102R 0.702 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 tier1 - - 22 0 0.00 15 7 31.82 KIAA1211L 0 genome.wustl.edu 37 2 99449396 99449396 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 99449396 99449396 C T SNP KIAA1211L ENST00000397899 human ensembl 74_37 -1 known missense c.304 p.G102R 0.702 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 tier1 - - 24 0 0.00 15 7 31.82 KLF7 0 genome.wustl.edu 37 2 207945782 207945783 + RNA DEL TA TA - TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 207945782 207945783 TA - DEL KLF7 ENST00000467833 human ensembl 74_37 -1 putative rna NULL NULL 0.958:0.994 - - - no_errors KLF7 HGNC ENSG00000118263 tier1 45 0 0.00 26 4 13.33 KLHL26 0 genome.wustl.edu 37 19 18779978 18779978 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 18779978 18779978 G A SNP KLHL26 ENST00000300976 human ensembl 74_37 +1 known missense c.1771 p.D591N 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL26 HGNC ENSG00000167487 tier1 - - 45 0 0.00 78 14 15.22 KLHL26 0 genome.wustl.edu 37 19 18779978 18779978 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 18779978 18779978 G A SNP KLHL26 ENST00000300976 human ensembl 74_37 +1 known missense c.1771 p.D591N 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL26 HGNC ENSG00000167487 tier1 - - 63 0 0.00 78 14 15.22 LILRB3 0 genome.wustl.edu 37 19 54721222 54721222 + Missense_Mutation SNP C C G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 54721222 54721222 C G SNP LILRB3 ENST00000407860 human ensembl 74_37 -1 known missense c.1766 p.R589T 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB3 HGNC ENSG00000204577 tier1 - - 101 0 0.00 101 22 17.89 LILRB3 0 genome.wustl.edu 37 19 54721222 54721222 + Missense_Mutation SNP C C G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 54721222 54721222 C G SNP LILRB3 ENST00000407860 human ensembl 74_37 -1 known missense c.1766 p.R589T 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB3 HGNC ENSG00000204577 tier1 - - 80 0 0.00 101 22 17.89 LOC100506060 0 genome.wustl.edu 37 16 70269011 70269011 + RNA SNP A A C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 16 70269011 70269011 A C SNP LOC100506060 ENST00000568855 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-296I10.6 Clone_based_vega_gene ENSG00000261556 tier1 - - 140 0 0.00 158 48 23.30 LOC100506060 0 genome.wustl.edu 37 16 70269011 70269011 + RNA SNP A A C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 16 70269011 70269011 A C SNP LOC100506060 ENST00000568855 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-296I10.6 Clone_based_vega_gene ENSG00000261556 tier1 - - 148 0 0.00 158 48 23.30 LOC400891 0 genome.wustl.edu 37 22 21403732 21403732 + RNA SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 22 21403732 21403732 C T SNP LOC400891 ENST00000473769 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors AC002472.13 Clone_based_vega_gene ENSG00000187905 tier1 rs116878923 - 39 0 0.00 50 10 16.67 LOC440518 0 genome.wustl.edu 37 19 22785662 22785662 + RNA SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 22785662 22785662 C T SNP LOC440518 ENST00000600260 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors CTC-457E21.3 Clone_based_vega_gene ENSG00000269332 tier1 - - 73 0 0.00 97 6 5.83 LOC440518 0 genome.wustl.edu 37 19 22785662 22785662 + RNA SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 22785662 22785662 C T SNP LOC440518 ENST00000600260 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors CTC-457E21.3 Clone_based_vega_gene ENSG00000269332 tier1 - - 81 0 0.00 97 6 5.83 LRRC37A3 0 genome.wustl.edu 37 17 62855003 62855004 + Splice_Site INS - - A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 17 62855003 62855004 - A INS LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known splice_site_ins c.4705-3_4705-2 e10-2 0.379:0.384 - - - no_errors LRRC37A3 HGNC ENSG00000176809 tier1 40 0 0.00 39 5 11.36 LRRC61 0 genome.wustl.edu 37 7 150034279 150034279 + Missense_Mutation SNP C C A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 7 150034279 150034279 C A SNP LRRC61 ENST00000323078 human ensembl 74_37 +1 known missense c.329 p.A110D 0.589 NULL pfam_Leu-rich_rpt - no_errors LRRC61 HGNC ENSG00000127399 tier1 - - 43 0 0.00 37 17 31.48 LRRC61 0 genome.wustl.edu 37 7 150034279 150034279 + Missense_Mutation SNP C C A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 7 150034279 150034279 C A SNP LRRC61 ENST00000323078 human ensembl 74_37 +1 known missense c.329 p.A110D 0.589 NULL pfam_Leu-rich_rpt - no_errors LRRC61 HGNC ENSG00000127399 tier1 - - 70 0 0.00 37 17 31.48 MAGEB6 0 genome.wustl.edu 37 X 26213165 26213165 + Missense_Mutation SNP G G C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 X 26213165 26213165 G C SNP MAGEB6 ENST00000379034 human ensembl 74_37 +1 known missense c.1202 p.R401T 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 tier1 - - 71 0 0.00 42 39 47.56 MAGEB6 0 genome.wustl.edu 37 X 26213165 26213165 + Missense_Mutation SNP G G C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 X 26213165 26213165 G C SNP MAGEB6 ENST00000379034 human ensembl 74_37 +1 known missense c.1202 p.R401T 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 tier1 - - 86 0 0.00 42 39 47.56 MAGEL2 0 genome.wustl.edu 37 15 23889169 23889169 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 15 23889169 23889169 C T SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.1912 p.G638S 0.027 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 tier1 - - 13 0 0.00 21 8 27.59 MAGEL2 0 genome.wustl.edu 37 15 23889169 23889169 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 15 23889169 23889169 C T SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.1912 p.G638S 0.027 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 tier1 - - 23 0 0.00 21 8 27.59 MAP3K1 0 genome.wustl.edu 37 5 56189381 56189381 + Silent SNP A A G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 5 56189381 56189381 A G SNP MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel silent c.4413 p.P1471 0.804 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 tier1 - - 27 0 0.00 8 16 66.67 MAP3K1 0 genome.wustl.edu 37 5 56189381 56189381 + Silent SNP A A G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 5 56189381 56189381 A G SNP MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel silent c.4413 p.P1471 0.804 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 tier1 - - 38 0 0.00 8 16 66.67 MC5R 0 genome.wustl.edu 37 18 13826394 13826394 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 18 13826394 13826394 C T SNP MC5R ENST00000324750 human ensembl 74_37 +1 known silent c.630 p.L210 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC5R HGNC ENSG00000176136 tier1 - - 45 0 0.00 68 16 19.05 MC5R 0 genome.wustl.edu 37 18 13826394 13826394 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 18 13826394 13826394 C T SNP MC5R ENST00000324750 human ensembl 74_37 +1 known silent c.630 p.L210 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC5R HGNC ENSG00000176136 tier1 - - 68 0 0.00 68 16 19.05 MFN2 0 genome.wustl.edu 37 1 12066704 12066704 + Missense_Mutation SNP C C G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 12066704 12066704 C G SNP MFN2 ENST00000235329 human ensembl 74_37 +1 known missense c.1826 p.S609C 1.000 pfam_Fzo/mitofusin_HR2 pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN2 HGNC ENSG00000116688 tier1 - - 50 0 0.00 50 23 31.51 MFN2 0 genome.wustl.edu 37 1 12066704 12066704 + Missense_Mutation SNP C C G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 12066704 12066704 C G SNP MFN2 ENST00000235329 human ensembl 74_37 +1 known missense c.1826 p.S609C 1.000 pfam_Fzo/mitofusin_HR2 pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN2 HGNC ENSG00000116688 tier1 - - 72 0 0.00 50 23 31.51 MIR1302-5 0 genome.wustl.edu 37 20 49231294 49231294 + RNA SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 20 49231294 49231294 G A SNP MIR1302-5 ENST00000408164 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors MIR1302-5 HGNC ENSG00000221091 tier1 - - 45 0 0.00 95 12 11.21 MIR1302-5 0 genome.wustl.edu 37 20 49231294 49231294 + RNA SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 20 49231294 49231294 G A SNP MIR1302-5 ENST00000408164 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors MIR1302-5 HGNC ENSG00000221091 tier1 - - 46 0 0.00 95 12 11.21 MIR4300 0 genome.wustl.edu 37 11 81601792 81601792 + RNA SNP A A C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 81601792 81601792 A C SNP MIR4300 ENST00000581016 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors MIR4300 HGNC ENSG00000264110 tier1 - - 52 0 0.00 78 15 16.13 MIR4300 0 genome.wustl.edu 37 11 81601792 81601792 + RNA SNP A A C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 81601792 81601792 A C SNP MIR4300 ENST00000581016 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors MIR4300 HGNC ENSG00000264110 tier1 - - 53 0 0.00 78 15 16.13 MMP13 0 genome.wustl.edu 37 11 102826188 102826188 + Missense_Mutation SNP A A T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 102826188 102826188 A T SNP MMP13 ENST00000340273 human ensembl 74_37 -1 novel missense c.155 p.L52H 0.980 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP13 HGNC ENSG00000137745 39 0 0.00 48 3 5.88 MRPS15 0 genome.wustl.edu 37 1 36923529 36923529 + Nonsense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 36923529 36923529 G A SNP MRPS15 ENST00000373116 human ensembl 74_37 -1 known nonsense c.439 p.R147* 0.996 pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd - no_errors MRPS15 HGNC ENSG00000116898 tier1 - - 48 0 0.00 60 21 25.93 MRPS15 0 genome.wustl.edu 37 1 36923529 36923529 + Nonsense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 36923529 36923529 G A SNP MRPS15 ENST00000373116 human ensembl 74_37 -1 known nonsense c.439 p.R147* 0.996 pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd - no_errors MRPS15 HGNC ENSG00000116898 tier1 - - 68 0 0.00 60 21 25.93 MRVI1 0 genome.wustl.edu 37 11 10650303 10650303 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 10650303 10650303 G A SNP MRVI1 ENST00000421747 human ensembl 74_37 -1 known missense c.620 p.P207L 0.016 NULL pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 tier1 - - 30 0 0.00 36 10 21.28 MRVI1 0 genome.wustl.edu 37 11 10650303 10650303 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 10650303 10650303 G A SNP MRVI1 ENST00000421747 human ensembl 74_37 -1 known missense c.620 p.P207L 0.016 NULL pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 tier1 - - 34 0 0.00 36 10 21.28 MT-ATP6 0 genome.wustl.edu 37 MT 9010 9010 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 MT 9010 9010 G T SNP MT-ATP6 ENST00000361899 human ensembl 74_37 +1 known missense c.484 p.A162S NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 tier1 - - 35 0 0.00 11 2 15.38 MT-ATP6 0 genome.wustl.edu 37 MT 9010 9010 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 MT 9010 9010 G T SNP MT-ATP6 ENST00000361899 human ensembl 74_37 +1 known missense c.484 p.A162S NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 tier1 - - 69 0 0.00 11 2 15.38 MT-ATP6 0 genome.wustl.edu 37 MT 9098 9098 + Missense_Mutation SNP T T C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 MT 9098 9098 T C SNP MT-ATP6 ENST00000361899 human ensembl 74_37 +1 known missense c.572 p.I191T NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 tier1 rs201559119 - 62 0 0.00 0 15 100.00 MT-ND5 0 genome.wustl.edu 37 MT 13413 13413 + Missense_Mutation SNP A A C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 MT 13413 13413 A C SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1077 p.M359I NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 61 0 0.00 11 2 15.38 MYH14 0 genome.wustl.edu 37 19 50713840 50713840 + Frame_Shift_Del DEL A A - TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 50713840 50713840 A - DEL MYH14 ENST00000262269 human ensembl 74_37 +1 known frame_shift_del c.218 p.G74fs 1.000 pfam_Myosin_N,superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 tier1 17 0 0.00 10 2 16.67 MYT1L 0 genome.wustl.edu 37 2 1926292 1926292 + Missense_Mutation SNP A A G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 1926292 1926292 A G SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.1249 p.S417P 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 49 0 0.00 48 12 20.00 MYT1L 0 genome.wustl.edu 37 2 1926292 1926292 + Missense_Mutation SNP A A G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 1926292 1926292 A G SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.1249 p.S417P 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 63 0 0.00 48 12 20.00 MZF1 0 genome.wustl.edu 37 19 59074805 59074805 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 59074805 59074805 G T SNP MZF1 ENST00000215057 human ensembl 74_37 -1 known missense c.839 p.P280H 0.764 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC ENSG00000099326 tier1 - - 52 0 0.00 47 4 7.84 NAALAD2 0 genome.wustl.edu 37 11 89882244 89882244 + Missense_Mutation SNP A A T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 89882244 89882244 A T SNP NAALAD2 ENST00000534061 human ensembl 74_37 +1 known missense c.452 p.Y151F 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALAD2 HGNC ENSG00000077616 tier1 - - 106 0 0.00 109 58 34.73 NAALAD2 0 genome.wustl.edu 37 11 89882244 89882244 + Missense_Mutation SNP A A T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 89882244 89882244 A T SNP NAALAD2 ENST00000534061 human ensembl 74_37 +1 known missense c.452 p.Y151F 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALAD2 HGNC ENSG00000077616 tier1 - - 109 0 0.00 109 58 34.73 NALCN 0 genome.wustl.edu 37 13 101890252 101890252 + Missense_Mutation SNP C C A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 13 101890252 101890252 C A SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.1288 p.D430Y 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 27 0 0.00 33 2 5.71 NCOR2 0 genome.wustl.edu 37 12 124904564 124904564 + Frame_Shift_Del DEL T T - TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 124904564 124904564 T - DEL NCOR2 ENST00000356219 human ensembl 74_37 -1 known frame_shift_del c.1421 p.K474fs 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 33 0 0.00 35 2 5.41 NCOR2 0 genome.wustl.edu 37 12 124904564 124904564 + Frame_Shift_Del DEL T T - TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 124904564 124904564 T - DEL NCOR2 ENST00000356219 human ensembl 74_37 -1 known frame_shift_del c.1421 p.K474fs 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 34 0 0.00 35 2 5.41 NEBL 0 genome.wustl.edu 37 10 21108359 21108359 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 10 21108359 21108359 C T SNP NEBL ENST00000377122 human ensembl 74_37 -1 known silent c.2049 p.L683 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 tier1 - - 37 0 0.00 26 12 31.58 NEBL 0 genome.wustl.edu 37 10 21108359 21108359 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 10 21108359 21108359 C T SNP NEBL ENST00000377122 human ensembl 74_37 -1 known silent c.2049 p.L683 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 tier1 - - 55 0 0.00 26 12 31.58 NIN 0 genome.wustl.edu 37 14 51238069 51238069 + Missense_Mutation SNP C C A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 14 51238069 51238069 C A SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.1099 p.A367S 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 tier1 - - 36 0 0.00 37 4 9.76 NIN 0 genome.wustl.edu 37 14 51238069 51238069 + Missense_Mutation SNP C C A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 14 51238069 51238069 C A SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.1099 p.A367S 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 tier1 - - 38 0 0.00 37 4 9.76 NINL 0 genome.wustl.edu 37 20 25434171 25434171 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 20 25434171 25434171 C T SNP NINL ENST00000278886 human ensembl 74_37 -1 known silent c.4065 p.E1355 0.998 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 tier1 - - 36 0 0.00 75 21 21.88 NINL 0 genome.wustl.edu 37 20 25434213 25434213 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 20 25434213 25434213 C T SNP NINL ENST00000278886 human ensembl 74_37 -1 known silent c.4023 p.V1341 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 tier1 - - 36 0 0.00 72 17 19.10 NINL 0 genome.wustl.edu 37 20 25434213 25434213 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 20 25434213 25434213 C T SNP NINL ENST00000278886 human ensembl 74_37 -1 known silent c.4023 p.V1341 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 tier1 - - 37 0 0.00 72 17 19.10 NOBOX 0 genome.wustl.edu 37 7 144096926 144096926 + Nonsense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 7 144096926 144096926 G A SNP NOBOX ENST00000467773 human ensembl 74_37 -1 known nonsense c.1078 p.R360* 0.978 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NOBOX HGNC ENSG00000106410 tier1 - - 48 0 0.00 36 21 36.84 NOBOX 0 genome.wustl.edu 37 7 144096926 144096926 + Nonsense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 7 144096926 144096926 G A SNP NOBOX ENST00000467773 human ensembl 74_37 -1 known nonsense c.1078 p.R360* 0.978 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NOBOX HGNC ENSG00000106410 tier1 - - 53 0 0.00 36 21 36.84 NRSN1 0 genome.wustl.edu 37 6 24145969 24145969 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 6 24145969 24145969 C T SNP NRSN1 ENST00000378491 human ensembl 74_37 +1 known missense c.383 p.T128M 0.819 NULL NULL - no_errors NRSN1 HGNC ENSG00000152954 tier1 - - 48 0 0.00 54 4 6.90 NRSN1 0 genome.wustl.edu 37 6 24145969 24145969 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 6 24145969 24145969 C T SNP NRSN1 ENST00000378491 human ensembl 74_37 +1 known missense c.383 p.T128M 0.819 NULL NULL - no_errors NRSN1 HGNC ENSG00000152954 tier1 - - 52 0 0.00 54 4 6.90 NUMBL 0 genome.wustl.edu 37 19 41173866 41173868 + In_Frame_Del DEL TGC TGC - TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 41173866 41173868 TGC - DEL NUMBL ENST00000252891 human ensembl 74_37 -1 known in_frame_del c.1337_1335 p.Q446in_frame_del 0.321:0.944:0.964 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMBL HGNC ENSG00000105245 tier1 18 0 0.00 18 8 30.77 NUMBL 0 genome.wustl.edu 37 19 41173889 41173889 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 41173889 41173889 C T SNP NUMBL ENST00000252891 human ensembl 74_37 -1 known silent c.1314 p.Q438 1.000 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMBL HGNC ENSG00000105245 tier1 - - 18 0 0.00 24 9 27.27 NUMBL 0 genome.wustl.edu 37 19 41173896 41173898 + In_Frame_Del DEL TGT TGT - TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 41173896 41173898 TGT - DEL NUMBL ENST00000252891 human ensembl 74_37 -1 known in_frame_del c.1307_1305 p.Q439in_frame_del 1.000:1.000:0.998 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMBL HGNC ENSG00000105245 tier1 19 0 0.00 26 9 25.71 OBSCN 0 genome.wustl.edu 37 1 228511299 228511299 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 228511299 228511299 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.15644 p.R5215H 0.998 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 63 0 0.00 47 20 29.85 OBSCN 0 genome.wustl.edu 37 1 228511299 228511299 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 228511299 228511299 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.15644 p.R5215H 0.998 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 69 0 0.00 47 20 29.85 ODF2 0 genome.wustl.edu 37 9 131250255 131250255 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 9 131250255 131250255 G A SNP ODF2 ENST00000434106 human ensembl 74_37 +1 known missense c.1487 p.R496H 0.955 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 tier1 - - 50 0 0.00 62 6 8.82 OMP 0 genome.wustl.edu 37 11 76814312 76814312 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 76814312 76814312 G A SNP OMP ENST00000529803 human ensembl 74_37 +1 known missense c.427 p.V143I 0.997 pfam_Olfactory_marker,superfamily_Olfactory_marker pfam_Olfactory_marker,superfamily_Olfactory_marker - no_errors OMP HGNC ENSG00000254550 tier1 - - 30 0 0.00 59 9 13.24 OMP 0 genome.wustl.edu 37 11 76814312 76814312 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 76814312 76814312 G A SNP OMP ENST00000529803 human ensembl 74_37 +1 known missense c.427 p.V143I 0.997 pfam_Olfactory_marker,superfamily_Olfactory_marker pfam_Olfactory_marker,superfamily_Olfactory_marker - no_errors OMP HGNC ENSG00000254550 tier1 - - 52 0 0.00 59 9 13.24 OR4D5 0 genome.wustl.edu 37 11 123810418 123810418 + Missense_Mutation SNP C C G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 123810418 123810418 C G SNP OR4D5 ENST00000307033 human ensembl 74_37 +1 known missense c.95 p.S32C 0.283 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D5 HGNC ENSG00000171014 tier1 - - 62 0 0.00 89 12 11.88 OR4D5 0 genome.wustl.edu 37 11 123810418 123810418 + Missense_Mutation SNP C C G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 123810418 123810418 C G SNP OR4D5 ENST00000307033 human ensembl 74_37 +1 known missense c.95 p.S32C 0.283 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D5 HGNC ENSG00000171014 tier1 - - 67 0 0.00 89 12 11.88 OR4N4 0 genome.wustl.edu 37 15 22382852 22382852 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 15 22382852 22382852 G T SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.380 p.C127F 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 tier1 - - 123 0 0.00 123 10 7.52 OR4N4 0 genome.wustl.edu 37 15 22382852 22382852 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 15 22382852 22382852 G T SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.380 p.C127F 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 tier1 - - 87 0 0.00 123 10 7.52 OR5L2 0 genome.wustl.edu 37 11 55595411 55595411 + Silent SNP C C A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 55595411 55595411 C A SNP OR5L2 ENST00000378397 human ensembl 74_37 +1 known silent c.717 p.S239 0.990 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 tier1 - - 65 0 0.00 81 17 17.35 OR5L2 0 genome.wustl.edu 37 11 55595411 55595411 + Silent SNP C C A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 55595411 55595411 C A SNP OR5L2 ENST00000378397 human ensembl 74_37 +1 known silent c.717 p.S239 0.990 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 tier1 - - 69 0 0.00 81 17 17.35 OR5R1 0 genome.wustl.edu 37 11 56185376 56185376 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 56185376 56185376 C T SNP OR5R1 ENST00000312253 human ensembl 74_37 -1 known silent c.333 p.E111 0.304 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5R1 HGNC ENSG00000174942 tier1 - - 27 0 0.00 20 23 53.49 OR5R1 0 genome.wustl.edu 37 11 56185376 56185376 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 56185376 56185376 C T SNP OR5R1 ENST00000312253 human ensembl 74_37 -1 known silent c.333 p.E111 0.304 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5R1 HGNC ENSG00000174942 tier1 - - 28 0 0.00 20 23 53.49 OR8J3 0 genome.wustl.edu 37 11 55904509 55904509 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 55904509 55904509 C T SNP OR8J3 ENST00000301529 human ensembl 74_37 -1 known missense c.686 p.R229H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J3 HGNC ENSG00000167822 tier1 - - 33 0 0.00 20 16 44.44 OR8J3 0 genome.wustl.edu 37 11 55904509 55904509 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 55904509 55904509 C T SNP OR8J3 ENST00000301529 human ensembl 74_37 -1 known missense c.686 p.R229H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J3 HGNC ENSG00000167822 tier1 - - 34 0 0.00 20 16 44.44 OTUD4 0 genome.wustl.edu 37 4 146059597 146059597 + Missense_Mutation SNP T T A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 4 146059597 146059597 T A SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known missense c.2330 p.N777I 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 tier1 - - 64 0 0.00 54 17 23.94 OTUD4 0 genome.wustl.edu 37 4 146059597 146059597 + Missense_Mutation SNP T T A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 4 146059597 146059597 T A SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known missense c.2330 p.N777I 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 tier1 - - 66 0 0.00 54 17 23.94 OTUD6B 0 genome.wustl.edu 37 8 92097035 92097035 + Nonsense_Mutation SNP T T G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 8 92097035 92097035 T G SNP OTUD6B ENST00000285420 human ensembl 74_37 +1 known nonsense c.911 p.L304* 1.000 pfam_OTU,pfscan_OTU pfam_OTU,pfam_Peptidase_C65_otubain,pfscan_OTU - no_errors OTUD6B HGNC ENSG00000155100 13 0 0.00 22 3 12.00 PAPPA2 0 genome.wustl.edu 37 1 176664899 176664899 + Missense_Mutation SNP T T G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 176664899 176664899 T G SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.2650 p.C884G 0.999 superfamily_Fibronectin_type3 pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 66 0 0.00 71 10 12.35 PAPPA2 0 genome.wustl.edu 37 1 176664899 176664899 + Missense_Mutation SNP T T G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 176664899 176664899 T G SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.2650 p.C884G 0.999 superfamily_Fibronectin_type3 pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 74 0 0.00 71 10 12.35 PCYT1B 0 genome.wustl.edu 37 X 24625955 24625955 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 X 24625955 24625955 C T SNP PCYT1B ENST00000379144 human ensembl 74_37 -1 known missense c.241 p.A81T 1.000 pfam_Cyt_trans-like,tigrfam_Cyt_trans-like pfam_Cyt_trans-like,tigrfam_Cyt_trans-like - no_errors PCYT1B HGNC ENSG00000102230 tier1 - - 22 0 0.00 21 5 19.23 PCYT1B 0 genome.wustl.edu 37 X 24625955 24625955 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 X 24625955 24625955 C T SNP PCYT1B ENST00000379144 human ensembl 74_37 -1 known missense c.241 p.A81T 1.000 pfam_Cyt_trans-like,tigrfam_Cyt_trans-like pfam_Cyt_trans-like,tigrfam_Cyt_trans-like - no_errors PCYT1B HGNC ENSG00000102230 tier1 - - 26 0 0.00 21 5 19.23 PDE11A 0 genome.wustl.edu 37 2 178681580 178681580 + Missense_Mutation SNP C C G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 178681580 178681580 C G SNP PDE11A ENST00000286063 human ensembl 74_37 -1 known missense c.1713 p.W571C 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 tier1 - - 11 0 0.00 18 7 28.00 PDE11A 0 genome.wustl.edu 37 2 178681580 178681580 + Missense_Mutation SNP C C G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 178681580 178681580 C G SNP PDE11A ENST00000286063 human ensembl 74_37 -1 known missense c.1713 p.W571C 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 tier1 - - 12 0 0.00 18 7 28.00 PDE4DIP 0 genome.wustl.edu 37 1 145039744 145039744 + RNA SNP C C A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 145039744 145039744 C A SNP PDE4DIP ENST00000485062 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 38 0 0.00 46 4 8.00 PDPR 0 genome.wustl.edu 37 16 70154430 70154430 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 16 70154430 70154430 G A SNP PDPR ENST00000288050 human ensembl 74_37 +1 known missense c.35 p.R12K 0.005 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 tier1 - - 116 0 0.00 161 17 9.55 PDPR 0 genome.wustl.edu 37 16 70154430 70154430 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 16 70154430 70154430 G A SNP PDPR ENST00000288050 human ensembl 74_37 +1 known missense c.35 p.R12K 0.005 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 tier1 - - 118 0 0.00 161 17 9.55 PEG3 0 genome.wustl.edu 37 19 57325604 57325604 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 57325604 57325604 G A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known silent c.4206 p.A1402 0.011 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 rs141987198 - 55 0 0.00 55 13 19.12 PEG3 0 genome.wustl.edu 37 19 57325604 57325604 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 57325604 57325604 G A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known silent c.4206 p.A1402 0.011 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 rs141987198 - 63 0 0.00 55 13 19.12 PHF21A 0 genome.wustl.edu 37 11 45991391 45991391 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 45991391 45991391 G A SNP PHF21A ENST00000257821 human ensembl 74_37 -1 known missense c.677 p.T226I 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 tier1 - - 59 0 0.00 88 23 20.72 PHF21A 0 genome.wustl.edu 37 11 45991391 45991391 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 45991391 45991391 G A SNP PHF21A ENST00000257821 human ensembl 74_37 -1 known missense c.677 p.T226I 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 tier1 - - 65 0 0.00 88 23 20.72 PKHD1L1 0 genome.wustl.edu 37 8 110417360 110417360 + Splice_Site SNP G G C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 8 110417360 110417360 G C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known splice_site c.1669+1 e16+1 1.000 - - - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 30 0 0.00 45 17 27.42 PKHD1L1 0 genome.wustl.edu 37 8 110417360 110417360 + Splice_Site SNP G G C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 8 110417360 110417360 G C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known splice_site c.1669+1 e16+1 1.000 - - - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 37 0 0.00 45 17 27.42 PKP4 0 genome.wustl.edu 37 2 159526239 159526239 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 159526239 159526239 C T SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known silent c.2736 p.Y912 0.936 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 tier1 rs138568714 - 24 0 0.00 25 10 28.57 PKP4 0 genome.wustl.edu 37 2 159526239 159526239 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 159526239 159526239 C T SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known silent c.2736 p.Y912 0.936 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 tier1 rs138568714 - 25 0 0.00 25 10 28.57 PLCL1 0 genome.wustl.edu 37 2 198949317 198949317 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 198949317 198949317 G T SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.1076 p.R359I 1.000 pfam_PLipase_C_EF-hand-like pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 tier1 - - 46 0 0.00 50 11 18.03 PLCL1 0 genome.wustl.edu 37 2 198949317 198949317 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 198949317 198949317 G T SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.1076 p.R359I 1.000 pfam_PLipase_C_EF-hand-like pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 tier1 - - 49 0 0.00 50 11 18.03 PPFIBP2 0 genome.wustl.edu 37 11 7598559 7598560 + RNA INS - - GTGC TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 7598559 7598560 - GTGC INS PPFIBP2 ENST00000529021 human ensembl 74_37 +1 known rna NULL NULL 0.008:0.018 - - - no_errors PPFIBP2 HGNC ENSG00000166387 tier1 8 0 0.00 4 2 33.33 PPP4R4 0 genome.wustl.edu 37 14 94710984 94710984 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 14 94710984 94710984 C T SNP PPP4R4 ENST00000304338 human ensembl 74_37 +1 known silent c.1279 p.L427 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC ENSG00000119698 tier1 - - 10 0 0.00 19 6 24.00 PPP4R4 0 genome.wustl.edu 37 14 94710984 94710984 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 14 94710984 94710984 C T SNP PPP4R4 ENST00000304338 human ensembl 74_37 +1 known silent c.1279 p.L427 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC ENSG00000119698 tier1 - - 22 0 0.00 19 6 24.00 PRDM16 0 genome.wustl.edu 37 1 3329081 3329081 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 3329081 3329081 G T SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known missense c.2320 p.D774Y 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 tier1 - - 103 0 0.00 63 15 19.23 PRDM16 0 genome.wustl.edu 37 1 3329081 3329081 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 3329081 3329081 G T SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known missense c.2320 p.D774Y 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 tier1 - - 78 0 0.00 63 15 19.23 PRKD3 0 genome.wustl.edu 37 2 37513341 37513341 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 37513341 37513341 G A SNP PRKD3 ENST00000234179 human ensembl 74_37 -1 known missense c.889 p.R297C 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD3 HGNC ENSG00000115825 tier1 - - 39 0 0.00 55 6 9.84 PRKD3 0 genome.wustl.edu 37 2 37513341 37513341 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 37513341 37513341 G A SNP PRKD3 ENST00000234179 human ensembl 74_37 -1 known missense c.889 p.R297C 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD3 HGNC ENSG00000115825 tier1 - - 43 0 0.00 55 6 9.84 PRPF39 0 genome.wustl.edu 37 14 45564717 45564717 + Missense_Mutation SNP C C A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 14 45564717 45564717 C A SNP PRPF39 ENST00000355765 human ensembl 74_37 +1 known missense c.275 p.P92H 1.000 NULL smart_HAT - no_errors PRPF39 HGNC ENSG00000185246 tier1 - - 8 0 0.00 8 6 42.86 PRRC2B 0 genome.wustl.edu 37 9 134363281 134363281 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 9 134363281 134363281 G T SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.6023 p.S2008I 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 tier1 - - 55 0 0.00 54 25 31.65 PRRC2B 0 genome.wustl.edu 37 9 134363281 134363281 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 9 134363281 134363281 G T SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.6023 p.S2008I 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 tier1 - - 65 0 0.00 54 25 31.65 PSMD6 0 genome.wustl.edu 37 3 64004295 64004295 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 3 64004295 64004295 G T SNP PSMD6 ENST00000295901 human ensembl 74_37 -1 known missense c.806 p.S269Y 0.998 pfam_PCI_dom pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors PSMD6 HGNC ENSG00000163636 28 0 0.00 24 2 7.69 PSME4 0 genome.wustl.edu 37 2 54133795 54133795 + Missense_Mutation SNP T T A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 54133795 54133795 T A SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known missense c.2883 p.K961N 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 tier1 - - 31 0 0.00 36 20 35.71 PSME4 0 genome.wustl.edu 37 2 54133795 54133795 + Missense_Mutation SNP T T A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 54133795 54133795 T A SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known missense c.2883 p.K961N 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 tier1 - - 36 0 0.00 36 20 35.71 RAB33B 0 genome.wustl.edu 37 4 140394184 140394184 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 4 140394184 140394184 G T SNP RAB33B ENST00000305626 human ensembl 74_37 +1 known missense c.594 p.K198N 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB33B HGNC ENSG00000172007 tier1 - - 24 0 0.00 9 3 25.00 RECQL 0 genome.wustl.edu 37 12 21639443 21639443 + Silent SNP T T C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 21639443 21639443 T C SNP RECQL ENST00000421138 human ensembl 74_37 -1 known silent c.471 p.S157 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 85 0 0.00 74 4 5.13 REG3G 0 genome.wustl.edu 37 2 79255036 79255036 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 79255036 79255036 G T SNP REG3G ENST00000272324 human ensembl 74_37 +1 known missense c.437 p.C146F 0.862 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG3G HGNC ENSG00000143954 tier1 - - 37 0 0.00 54 5 8.47 REG3G 0 genome.wustl.edu 37 2 79255036 79255036 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 79255036 79255036 G T SNP REG3G ENST00000272324 human ensembl 74_37 +1 known missense c.437 p.C146F 0.862 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG3G HGNC ENSG00000143954 tier1 - - 69 0 0.00 54 5 8.47 RRN3 0 genome.wustl.edu 37 16 15159153 15159153 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 16 15159153 15159153 G A SNP RRN3 ENST00000198767 human ensembl 74_37 -1 known silent c.1629 p.T543 0.012 pfam_RNA_pol_I_trans_ini_fac_RRN3 pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold - no_errors RRN3 HGNC ENSG00000085721 tier1 - - 65 0 0.00 110 14 11.29 RRN3 0 genome.wustl.edu 37 16 15159153 15159153 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 16 15159153 15159153 G A SNP RRN3 ENST00000198767 human ensembl 74_37 -1 known silent c.1629 p.T543 0.012 pfam_RNA_pol_I_trans_ini_fac_RRN3 pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold - no_errors RRN3 HGNC ENSG00000085721 tier1 - - 88 0 0.00 110 14 11.29 SESTD1 0 genome.wustl.edu 37 2 179986657 179986657 + Splice_Site SNP C C G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 179986657 179986657 C G SNP SESTD1 ENST00000428443 human ensembl 74_37 -1 known splice_site c.1283-1 e12-1 1.000 - - - no_errors SESTD1 HGNC ENSG00000187231 tier1 - - 30 0 0.00 27 12 30.77 SESTD1 0 genome.wustl.edu 37 2 179986657 179986657 + Splice_Site SNP C C G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 179986657 179986657 C G SNP SESTD1 ENST00000428443 human ensembl 74_37 -1 known splice_site c.1283-1 e12-1 1.000 - - - no_errors SESTD1 HGNC ENSG00000187231 tier1 - - 33 0 0.00 27 12 30.77 SETD8 0 genome.wustl.edu 37 12 123879766 123879766 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 123879766 123879766 G T SNP SETD8 ENST00000330479 human ensembl 74_37 +1 known missense c.462 p.K154N 1.000 pirsf_Hist_H4-K20_MeTrfase pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom - no_errors SETD8 HGNC ENSG00000183955 tier1 - - 32 0 0.00 26 4 13.33 SETD8 0 genome.wustl.edu 37 12 123879766 123879766 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 123879766 123879766 G T SNP SETD8 ENST00000330479 human ensembl 74_37 +1 known missense c.462 p.K154N 1.000 pirsf_Hist_H4-K20_MeTrfase pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom - no_errors SETD8 HGNC ENSG00000183955 tier1 - - 34 0 0.00 26 4 13.33 SIRT3 0 genome.wustl.edu 37 11 233167 233167 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 233167 233167 C T SNP SIRT3 ENST00000382743 human ensembl 74_37 -1 known silent c.522 p.P174 0.002 pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom - no_errors SIRT3 HGNC ENSG00000142082 tier1 rs148488998 - 35 0 0.00 50 5 9.09 SIRT3 0 genome.wustl.edu 37 11 233167 233167 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 233167 233167 C T SNP SIRT3 ENST00000382743 human ensembl 74_37 -1 known silent c.522 p.P174 0.002 pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom - no_errors SIRT3 HGNC ENSG00000142082 tier1 rs148488998 - 39 0 0.00 50 5 9.09 SLC12A8 0 genome.wustl.edu 37 3 124854513 124854513 + Nonsense_Mutation SNP C C A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 3 124854513 124854513 C A SNP SLC12A8 ENST00000423114 human ensembl 74_37 -1 known nonsense c.823 p.G275* 1.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom,superfamily_ABC1_TM_dom - no_errors SLC12A8 HGNC ENSG00000221955 tier1 - - 26 0 0.00 32 4 11.11 SLC38A8 0 genome.wustl.edu 37 16 84050269 84050269 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 16 84050269 84050269 G A SNP SLC38A8 ENST00000299709 human ensembl 74_37 -1 known silent c.1017 p.A339 0.017 pfam_AA_transpt_TM pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A8 HGNC ENSG00000166558 tier1 rs144115936 - 11 0 0.00 22 9 29.03 SLC38A8 0 genome.wustl.edu 37 16 84050269 84050269 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 16 84050269 84050269 G A SNP SLC38A8 ENST00000299709 human ensembl 74_37 -1 known silent c.1017 p.A339 0.017 pfam_AA_transpt_TM pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A8 HGNC ENSG00000166558 tier1 rs144115936 - 25 0 0.00 22 9 29.03 SLC9A5 0 genome.wustl.edu 37 16 67288942 67288942 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 16 67288942 67288942 G T SNP SLC9A5 ENST00000299798 human ensembl 74_37 +1 known missense c.509 p.G170V 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 tier1 - - 64 0 0.00 70 53 43.09 SLC9A5 0 genome.wustl.edu 37 16 67288942 67288942 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 16 67288942 67288942 G T SNP SLC9A5 ENST00000299798 human ensembl 74_37 +1 known missense c.509 p.G170V 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 tier1 - - 90 0 0.00 70 53 43.09 SLC9C2 0 genome.wustl.edu 37 1 173502849 173502849 + Missense_Mutation SNP A A G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 173502849 173502849 A G SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.2062 p.C688R 0.010 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 tier1 - - 43 0 0.00 62 4 6.06 SLC9C2 0 genome.wustl.edu 37 1 173502849 173502849 + Missense_Mutation SNP A A G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 173502849 173502849 A G SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.2062 p.C688R 0.010 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 tier1 - - 51 0 0.00 62 4 6.06 SNAI2 0 genome.wustl.edu 37 8 49832626 49832626 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 8 49832626 49832626 C T SNP SNAI2 ENST00000020945 human ensembl 74_37 -1 known missense c.454 p.D152N 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 tier1 - - 50 0 0.00 86 16 15.69 SNAI2 0 genome.wustl.edu 37 8 49832626 49832626 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 8 49832626 49832626 C T SNP SNAI2 ENST00000020945 human ensembl 74_37 -1 known missense c.454 p.D152N 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 tier1 - - 66 0 0.00 86 16 15.69 SNTA1 0 genome.wustl.edu 37 20 31997973 31997973 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 20 31997973 31997973 C T SNP SNTA1 ENST00000217381 human ensembl 74_37 -1 known missense c.1205 p.R402Q 0.999 smart_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTA1 HGNC ENSG00000101400 tier1 - - 46 0 0.00 95 24 20.00 SNTA1 0 genome.wustl.edu 37 20 31997973 31997973 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 20 31997973 31997973 C T SNP SNTA1 ENST00000217381 human ensembl 74_37 -1 known missense c.1205 p.R402Q 0.999 smart_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTA1 HGNC ENSG00000101400 tier1 - - 51 0 0.00 95 24 20.00 SPTBN2 0 genome.wustl.edu 37 11 66458832 66458832 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 66458832 66458832 G A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.5488 p.R1830C 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 tier1 - - 35 0 0.00 45 13 22.41 SPTBN2 0 genome.wustl.edu 37 11 66458832 66458832 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 66458832 66458832 G A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.5488 p.R1830C 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 tier1 - - 66 0 0.00 45 13 22.41 SUGP2 0 genome.wustl.edu 37 19 19120669 19120669 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 19120669 19120669 G T SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known missense c.2333 p.A778D 0.015 superfamily_Surp pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 34 0 0.00 31 2 6.06 SYBU 0 genome.wustl.edu 37 8 110587571 110587571 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 8 110587571 110587571 G A SNP SYBU ENST00000276646 human ensembl 74_37 -1 known missense c.1556 p.A519V 0.000 NULL NULL - no_errors SYBU HGNC ENSG00000147642 tier1 - - 28 0 0.00 50 4 7.41 SYBU 0 genome.wustl.edu 37 8 110587571 110587571 + Missense_Mutation SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 8 110587571 110587571 G A SNP SYBU ENST00000276646 human ensembl 74_37 -1 known missense c.1556 p.A519V 0.000 NULL NULL - no_errors SYBU HGNC ENSG00000147642 tier1 - - 49 0 0.00 50 4 7.41 SYTL3 0 genome.wustl.edu 37 6 159178395 159178395 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 6 159178395 159178395 G T SNP SYTL3 ENST00000297239 human ensembl 74_37 +1 known missense c.1290 p.W430C 1.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL3 HGNC ENSG00000164674 tier1 - - 42 0 0.00 51 4 7.27 SYTL3 0 genome.wustl.edu 37 6 159178395 159178395 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 6 159178395 159178395 G T SNP SYTL3 ENST00000297239 human ensembl 74_37 +1 known missense c.1290 p.W430C 1.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL3 HGNC ENSG00000164674 tier1 - - 59 0 0.00 51 4 7.27 TBXA2R 0 genome.wustl.edu 37 19 3600557 3600557 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 3600557 3600557 C T SNP TBXA2R ENST00000411851 human ensembl 74_37 -1 known missense c.76 p.A26T 1.000 prints_Thbox_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC ENSG00000006638 tier1 - - 45 0 0.00 50 12 19.35 TBXA2R 0 genome.wustl.edu 37 19 3600557 3600557 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 3600557 3600557 C T SNP TBXA2R ENST00000411851 human ensembl 74_37 -1 known missense c.76 p.A26T 1.000 prints_Thbox_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC ENSG00000006638 tier1 - - 61 0 0.00 50 12 19.35 TCEB3B 0 genome.wustl.edu 37 18 44560933 44560933 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 18 44560933 44560933 G T SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.703 p.R235S 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 tier1 - - 37 0 0.00 66 5 7.04 TCEB3B 0 genome.wustl.edu 37 18 44560933 44560933 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 18 44560933 44560933 G T SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.703 p.R235S 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 tier1 - - 59 0 0.00 66 5 7.04 TCTN1 0 genome.wustl.edu 37 12 111072534 111072534 + Nonsense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 111072534 111072534 G T SNP TCTN1 ENST00000397659 human ensembl 74_37 +1 known nonsense c.772 p.E258* 0.133 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN1 HGNC ENSG00000204852 tier1 - - 27 0 0.00 39 5 11.36 TCTN1 0 genome.wustl.edu 37 12 111072534 111072534 + Nonsense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 12 111072534 111072534 G T SNP TCTN1 ENST00000397659 human ensembl 74_37 +1 known nonsense c.772 p.E258* 0.133 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN1 HGNC ENSG00000204852 tier1 - - 35 0 0.00 39 5 11.36 TDO2 0 genome.wustl.edu 37 4 156831333 156831333 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 4 156831333 156831333 G A SNP TDO2 ENST00000536354 human ensembl 74_37 +1 known silent c.588 p.E196 1.000 pfam_Trp_2_3_dOase pfam_Trp_2_3_dOase - no_errors TDO2 HGNC ENSG00000151790 tier1 - - 14 0 0.00 16 7 30.43 TDO2 0 genome.wustl.edu 37 4 156831333 156831333 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 4 156831333 156831333 G A SNP TDO2 ENST00000536354 human ensembl 74_37 +1 known silent c.588 p.E196 1.000 pfam_Trp_2_3_dOase pfam_Trp_2_3_dOase - no_errors TDO2 HGNC ENSG00000151790 tier1 - - 23 0 0.00 16 7 30.43 THSD1 0 genome.wustl.edu 37 13 52951806 52951806 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 13 52951806 52951806 G T SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.2299 p.H767N 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 62 0 0.00 71 4 5.33 TIGIT 0 genome.wustl.edu 37 3 114018535 114018535 + Silent SNP C C A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 3 114018535 114018535 C A SNP TIGIT ENST00000383671 human ensembl 74_37 +1 known silent c.483 p.V161 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors TIGIT HGNC ENSG00000181847 tier1 - - 34 0 0.00 28 37 56.92 TIGIT 0 genome.wustl.edu 37 3 114018535 114018535 + Silent SNP C C A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 3 114018535 114018535 C A SNP TIGIT ENST00000383671 human ensembl 74_37 +1 known silent c.483 p.V161 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors TIGIT HGNC ENSG00000181847 tier1 - - 65 0 0.00 28 37 56.92 TMEM178B 0 genome.wustl.edu 37 7 140912469 140912469 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 7 140912469 140912469 C T SNP TMEM178B ENST00000565468 human ensembl 74_37 +1 putative missense c.461 p.T154M 1.000 NULL NULL - no_errors TMEM178B HGNC ENSG00000261115 tier1 - - 59 0 0.00 66 6 8.33 TMEM178B 0 genome.wustl.edu 37 7 140912469 140912469 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 7 140912469 140912469 C T SNP TMEM178B ENST00000565468 human ensembl 74_37 +1 putative missense c.461 p.T154M 1.000 NULL NULL - no_errors TMEM178B HGNC ENSG00000261115 tier1 - - 62 0 0.00 66 6 8.33 TNC 0 genome.wustl.edu 37 9 117825355 117825355 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 9 117825355 117825355 C T SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.3874 p.E1292K 0.968 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 tier1 - - 52 0 0.00 67 43 39.09 TNIK 0 genome.wustl.edu 37 3 170846630 170846630 + Frame_Shift_Del DEL G G - TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 3 170846630 170846630 G - DEL TNIK ENST00000436636 human ensembl 74_37 -1 known frame_shift_del c.1646 p.P549fs 1.000 NULL pfam_Prot_kinase_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_dom - no_errors TNIK HGNC ENSG00000154310 tier1 11 0 0.00 6 11 64.71 TNIK 0 genome.wustl.edu 37 3 170846630 170846630 + Frame_Shift_Del DEL G G - TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 3 170846630 170846630 G - DEL TNIK ENST00000436636 human ensembl 74_37 -1 known frame_shift_del c.1646 p.P549fs 1.000 NULL pfam_Prot_kinase_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_dom - no_errors TNIK HGNC ENSG00000154310 tier1 9 0 0.00 6 11 64.71 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934578 - 29 0 0.00 9 25 73.53 TPP1 0 genome.wustl.edu 37 11 6637740 6637743 + RNA DEL TTTT TTTT - TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 6637740 6637743 TTTT - DEL TPP1 ENST00000528807 human ensembl 74_37 -1 putative rna NULL NULL 0.237:0.105:0.000:0.000 - - - no_errors TPP1 HGNC ENSG00000166340 tier1 11 0 0.00 12 2 14.29 TPP1 0 genome.wustl.edu 37 11 6637740 6637743 + RNA DEL TTTT TTTT - TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 11 6637740 6637743 TTTT - DEL TPP1 ENST00000528807 human ensembl 74_37 -1 putative rna NULL NULL 0.237:0.105:0.000:0.000 - - - no_errors TPP1 HGNC ENSG00000166340 tier1 12 0 0.00 12 2 14.29 TPR 0 genome.wustl.edu 37 1 186302444 186302444 + Silent SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 186302444 186302444 G T SNP TPR ENST00000367478 human ensembl 74_37 -1 known silent c.5265 p.V1755 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 tier1 - - 35 0 0.00 62 5 7.46 TPR 0 genome.wustl.edu 37 1 186302444 186302444 + Silent SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 186302444 186302444 G T SNP TPR ENST00000367478 human ensembl 74_37 -1 known silent c.5265 p.V1755 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 tier1 - - 43 0 0.00 62 5 7.46 TRPC5 0 genome.wustl.edu 37 X 111195502 111195502 + Missense_Mutation SNP C C A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 X 111195502 111195502 C A SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.147 p.K49N 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 tier1 - - 14 0 0.00 10 17 62.96 TRPC5 0 genome.wustl.edu 37 X 111195502 111195502 + Missense_Mutation SNP C C A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 X 111195502 111195502 C A SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.147 p.K49N 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 tier1 - - 32 0 0.00 10 17 62.96 TRPM7 0 genome.wustl.edu 37 15 50955214 50955214 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 15 50955214 50955214 C T SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known silent c.33 p.L11 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 tier1 - - 25 0 0.00 28 5 15.15 TRPM7 0 genome.wustl.edu 37 15 50955214 50955214 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 15 50955214 50955214 C T SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known silent c.33 p.L11 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 tier1 - - 32 0 0.00 28 5 15.15 TTN 0 genome.wustl.edu 37 2 179647637 179647637 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 179647637 179647637 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.2996 p.R999H 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 25 0 0.00 33 14 29.79 TTN 0 genome.wustl.edu 37 2 179647637 179647637 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 2 179647637 179647637 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.2996 p.R999H 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 28 0 0.00 33 14 29.79 TUBA3C 0 genome.wustl.edu 37 13 19748204 19748204 + Silent SNP G G A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 13 19748204 19748204 G A SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known silent c.1152 p.I384 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 tier1 rs1052403 - 65 0 0.00 79 17 17.71 UBR4 0 genome.wustl.edu 37 1 19440388 19440388 + Missense_Mutation SNP C C G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 19440388 19440388 C G SNP UBR4 ENST00000375218 human ensembl 74_37 -1 known missense c.624 p.Q208H 0.001 NULL NULL - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 28 0 0.00 27 7 20.59 UBR4 0 genome.wustl.edu 37 1 19440388 19440388 + Missense_Mutation SNP C C G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 19440388 19440388 C G SNP UBR4 ENST00000375218 human ensembl 74_37 -1 known missense c.624 p.Q208H 0.001 NULL NULL - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 31 0 0.00 27 7 20.59 UPF3B 0 genome.wustl.edu 37 X 118975734 118975734 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 X 118975734 118975734 C T SNP UPF3B ENST00000276201 human ensembl 74_37 -1 known silent c.588 p.K196 1.000 pfam_Nonsense_mediated_decay_UPF3 pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC ENSG00000125351 tier1 - - 39 0 0.00 63 6 8.70 UPF3B 0 genome.wustl.edu 37 X 118975734 118975734 + Silent SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 X 118975734 118975734 C T SNP UPF3B ENST00000276201 human ensembl 74_37 -1 known silent c.588 p.K196 1.000 pfam_Nonsense_mediated_decay_UPF3 pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC ENSG00000125351 tier1 - - 51 0 0.00 63 6 8.70 VPS13C 0 genome.wustl.edu 37 15 62209684 62209684 + Silent SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 15 62209684 62209684 G T SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known silent c.7911 p.L2637 0.939 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 tier1 - - 46 0 0.00 75 4 5.06 VPS13C 0 genome.wustl.edu 37 15 62209684 62209684 + Silent SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 15 62209684 62209684 G T SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known silent c.7911 p.L2637 0.939 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 tier1 - - 52 0 0.00 75 4 5.06 VSTM2B 0 genome.wustl.edu 37 19 30054821 30054821 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 30054821 30054821 C T SNP VSTM2B ENST00000335523 human ensembl 74_37 +1 known missense c.838 p.R280C 0.087 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2B HGNC ENSG00000187135 tier1 - - 38 0 0.00 37 16 30.19 VSTM2B 0 genome.wustl.edu 37 19 30054821 30054821 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 30054821 30054821 C T SNP VSTM2B ENST00000335523 human ensembl 74_37 +1 known missense c.838 p.R280C 0.087 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2B HGNC ENSG00000187135 tier1 - - 46 0 0.00 37 16 30.19 VWDE 0 genome.wustl.edu 37 7 12409792 12409792 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 7 12409792 12409792 G T SNP VWDE ENST00000452576 human ensembl 74_37 -1 known missense c.2140 p.H714N 0.000 NULL pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors VWDE HGNC ENSG00000146530 tier1 - - 51 0 0.00 31 25 44.64 VWDE 0 genome.wustl.edu 37 7 12409792 12409792 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 7 12409792 12409792 G T SNP VWDE ENST00000452576 human ensembl 74_37 -1 known missense c.2140 p.H714N 0.000 NULL pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors VWDE HGNC ENSG00000146530 tier1 - - 60 0 0.00 31 25 44.64 WDR78 0 genome.wustl.edu 37 1 67313346 67313346 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 1 67313346 67313346 G T SNP WDR78 ENST00000371026 human ensembl 74_37 -1 known missense c.1112 p.S371Y 0.993 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 28 0 0.00 37 2 5.13 WISP3 0 genome.wustl.edu 37 6 112389434 112389434 + Frame_Shift_Del DEL A A - TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 6 112389434 112389434 A - DEL WISP3 ENST00000361714 human ensembl 74_37 +1 known frame_shift_del c.670 p.K226fs 1.000 superfamily_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt pfam_IGFBP-like,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt - no_errors WISP3 HGNC ENSG00000112761 tier1 15 0 0.00 21 3 12.50 WWTR1 0 genome.wustl.edu 37 3 149290715 149290715 + Silent SNP G G C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 3 149290715 149290715 G C SNP WWTR1 ENST00000360632 human ensembl 74_37 -1 known silent c.504 p.L168 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWTR1 HGNC ENSG00000018408 tier1 - - 100 0 0.00 138 23 14.29 WWTR1 0 genome.wustl.edu 37 3 149290715 149290715 + Silent SNP G G C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 3 149290715 149290715 G C SNP WWTR1 ENST00000360632 human ensembl 74_37 -1 known silent c.504 p.L168 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWTR1 HGNC ENSG00000018408 tier1 - - 114 0 0.00 138 23 14.29 ZC3H12B 0 genome.wustl.edu 37 X 64709206 64709206 + Missense_Mutation SNP C C A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 X 64709206 64709206 C A SNP ZC3H12B ENST00000338957 human ensembl 74_37 +1 known missense c.525 p.S175R 0.980 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 tier1 - - 25 0 0.00 28 5 15.15 ZC3H12B 0 genome.wustl.edu 37 X 64709206 64709206 + Missense_Mutation SNP C C A TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 X 64709206 64709206 C A SNP ZC3H12B ENST00000338957 human ensembl 74_37 +1 known missense c.525 p.S175R 0.980 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 tier1 - - 27 0 0.00 28 5 15.15 ZC3H12D 0 genome.wustl.edu 37 6 149782909 149782909 + RNA SNP G G C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 6 149782909 149782909 G C SNP ZC3H12D ENST00000462655 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZC3H12D HGNC ENSG00000178199 tier1 - - 46 0 0.00 49 20 28.99 ZC3H12D 0 genome.wustl.edu 37 6 149782909 149782909 + RNA SNP G G C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 6 149782909 149782909 G C SNP ZC3H12D ENST00000462655 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZC3H12D HGNC ENSG00000178199 tier1 - - 54 0 0.00 49 20 28.99 ZC3H3 0 genome.wustl.edu 37 8 144522386 144522386 + Silent SNP T T G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 8 144522386 144522386 T G SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known silent c.2640 p.S880 0.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 37 0 0.00 65 4 5.80 ZFPM2 0 genome.wustl.edu 37 8 106815021 106815021 + Missense_Mutation SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 8 106815021 106815021 G T SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.2711 p.S904I 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 14 0 0.00 24 2 7.69 ZMYND11 0 genome.wustl.edu 37 10 287978 287978 + Silent SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 10 287978 287978 G T SNP ZMYND11 ENST00000381591 human ensembl 74_37 +1 known silent c.849 p.L283 1.000 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ENSG00000015171 tier1 - - 39 0 0.00 47 4 7.84 ZMYND11 0 genome.wustl.edu 37 10 287978 287978 + Silent SNP G G T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 10 287978 287978 G T SNP ZMYND11 ENST00000381591 human ensembl 74_37 +1 known silent c.849 p.L283 1.000 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ENSG00000015171 tier1 - - 52 0 0.00 47 4 7.84 ZNF358 0 genome.wustl.edu 37 19 7584255 7584255 + Missense_Mutation SNP C C T TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 7584255 7584255 C T SNP ZNF358 ENST00000394341 human ensembl 74_37 +1 known missense c.127 p.P43S 0.036 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 32 0 0.00 54 3 5.26 ZNF525 0 genome.wustl.edu 37 19 53887291 53887291 + RNA SNP C C G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 53887291 53887291 C G SNP ZNF525 ENST00000601790 human ensembl 74_37 +1 known rna NULL NULL 0.586 - - - no_errors ZNF525 HGNC ENSG00000203326 tier1 - - 15 0 0.00 17 12 41.38 ZNF525 0 genome.wustl.edu 37 19 53887291 53887291 + RNA SNP C C G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 53887291 53887291 C G SNP ZNF525 ENST00000601790 human ensembl 74_37 +1 known rna NULL NULL 0.586 - - - no_errors ZNF525 HGNC ENSG00000203326 tier1 - - 19 0 0.00 17 12 41.38 ZNF582 0 genome.wustl.edu 37 19 56895667 56895667 + Silent SNP T T C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 56895667 56895667 T C SNP ZNF582 ENST00000301310 human ensembl 74_37 -1 known silent c.1119 p.G373 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF582 HGNC ENSG00000018869 tier1 - - 26 0 0.00 27 12 30.77 ZNF582 0 genome.wustl.edu 37 19 56895667 56895667 + Silent SNP T T C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 56895667 56895667 T C SNP ZNF582 ENST00000301310 human ensembl 74_37 -1 known silent c.1119 p.G373 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF582 HGNC ENSG00000018869 tier1 - - 29 0 0.00 27 12 30.77 ZNF766 0 genome.wustl.edu 37 19 52793497 52793497 + Silent SNP A A G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 52793497 52793497 A G SNP ZNF766 ENST00000359102 human ensembl 74_37 +1 known silent c.498 p.R166 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF766 HGNC ENSG00000196214 tier1 - - 17 0 0.00 14 5 26.32 ZNF766 0 genome.wustl.edu 37 19 52793497 52793497 + Silent SNP A A G TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 52793497 52793497 A G SNP ZNF766 ENST00000359102 human ensembl 74_37 +1 known silent c.498 p.R166 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF766 HGNC ENSG00000196214 tier1 - - 8 0 0.00 14 5 26.32 ZNF91 0 genome.wustl.edu 37 19 23542601 23542601 + Missense_Mutation SNP T T C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 23542601 23542601 T C SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known missense c.3180 p.I1060M 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 tier1 - - 32 0 0.00 34 29 46.03 ZNF91 0 genome.wustl.edu 37 19 23542601 23542601 + Missense_Mutation SNP T T C TCGA-IG-A3I8-01A-11D-A247-09 TCGA-IG-A3I8-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ce0db90-1984-4605-9bb4-14e8d0f60458 f4d061b0-d3da-4573-9af1-b6b1e0b582d5 19 23542601 23542601 T C SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known missense c.3180 p.I1060M 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 tier1 - - 45 0 0.00 34 29 46.03