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 ABHD16B 0 genome.wustl.edu 37 20 62494063 62494063 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 20 62494063 62494063 C A SNP ABHD16B ENST00000369916 human ensembl 74_37 +1 known missense c.1170 p.D390E 0.271 NULL pfam_AB_hydrolase_1 - no_errors ABHD16B HGNC ENSG00000183260 tier1 - - 17 0 0.00 0 2 100.00 ABI2 0 genome.wustl.edu 37 2 204259464 204259464 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 204259464 204259464 C A SNP ABI2 ENST00000295851 human ensembl 74_37 +1 known missense c.620 p.P207Q 1.000 NULL pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI2 HGNC ENSG00000138443 tier1 - - 60 0 0.00 33 4 10.81 ACBD5 0 genome.wustl.edu 37 10 27504518 27504518 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 27504518 27504518 G T SNP ACBD5 ENST00000375888 human ensembl 74_37 -1 known missense c.909 p.S303R 1.000 pirsf_M-assoc_diazepam-bd-inh pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein - no_errors ACBD5 HGNC ENSG00000107897 30 0 0.00 37 2 5.13 ACSS2 0 genome.wustl.edu 37 20 33501246 33501246 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 20 33501246 33501246 C T SNP ACSS2 ENST00000253382 human ensembl 74_37 +1 known missense c.517 p.L173F 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS2 HGNC ENSG00000131069 37 0 0.00 43 3 6.52 ADAM2 0 genome.wustl.edu 37 8 39624391 39624391 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 8 39624391 39624391 G T SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known missense c.1483 p.Q495K 0.542 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 tier1 - - 48 0 0.00 42 4 8.70 ADCK1 0 genome.wustl.edu 37 14 78325584 78325584 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 14 78325584 78325584 G T SNP ADCK1 ENST00000238561 human ensembl 74_37 +1 known nonsense c.385 p.E129* 1.000 NULL pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 tier1 - - 60 0 0.00 14 16 53.33 AFF3 0 genome.wustl.edu 37 2 100217961 100217961 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 100217961 100217961 G T SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known nonsense c.1382 p.S461* 0.997 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 67 0 0.00 31 2 6.06 AGBL1 0 genome.wustl.edu 37 15 86807974 86807974 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 15 86807974 86807974 G T SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known silent c.1434 p.V478 0.964 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 79 0 0.00 31 3 8.82 AKAP13 0 genome.wustl.edu 37 15 86118427 86118427 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 15 86118427 86118427 C T SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.728 p.S243F 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 tier1 - - 60 0 0.00 9 14 58.33 ALDOB 0 genome.wustl.edu 37 9 104188851 104188851 + Missense_Mutation SNP A A G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 104188851 104188851 A G SNP ALDOB ENST00000374855 human ensembl 74_37 -1 known missense c.610 p.Y204H 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOB HGNC ENSG00000136872 tier1 - - 77 0 0.00 39 15 27.78 ALG10B 0 genome.wustl.edu 37 12 38714830 38714830 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 12 38714830 38714830 C A SNP ALG10B ENST00000308742 human ensembl 74_37 +1 known missense c.1237 p.L413M 1.000 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10B HGNC ENSG00000175548 28 0 0.00 59 4 6.35 ALPI 0 genome.wustl.edu 37 2 233322334 233322334 + Silent SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 233322334 233322334 C T SNP ALPI ENST00000295463 human ensembl 74_37 +1 known silent c.708 p.Y236 0.988 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPI HGNC ENSG00000163295 tier1 - - 157 0 0.00 52 28 35.00 ANGPTL4 0 genome.wustl.edu 37 19 8430944 8430944 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 8430944 8430944 G A SNP ANGPTL4 ENST00000301455 human ensembl 74_37 +1 known missense c.425 p.S142N 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL4 HGNC ENSG00000167772 tier1 - - 141 0 0.00 44 20 31.25 ANK3 0 genome.wustl.edu 37 10 61833327 61833327 + Silent SNP A A G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 61833327 61833327 A G SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.7312 p.L2438 0.604 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 - - 50 0 0.00 27 14 34.15 ANKRD20A5P 0 genome.wustl.edu 37 18 14227754 14227754 + RNA SNP A A G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 18 14227754 14227754 A G SNP ANKRD20A5P ENST00000577614 human ensembl 74_37 +1 known rna NULL NULL 0.493 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 tier1 - - 77 0 0.00 65 41 38.68 ANO9 0 genome.wustl.edu 37 11 420818 420818 + Silent SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 11 420818 420818 G A SNP ANO9 ENST00000332826 human ensembl 74_37 -1 known silent c.1533 p.S511 0.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 tier1 - - 55 0 0.00 4 3 33.33 AP3B2 0 genome.wustl.edu 37 15 83348973 83348973 + Frame_Shift_Del DEL T T - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 15 83348973 83348973 T - DEL AP3B2 ENST00000261722 human ensembl 74_37 -1 known frame_shift_del c.1064 p.Q355fs 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 tier1 79 0 0.00 15 2 11.76 APC 0 genome.wustl.edu 37 5 112170742 112170742 + Frame_Shift_Del DEL T T - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 112170742 112170742 T - DEL APC ENST00000257430 human ensembl 74_37 +1 known frame_shift_del c.1838 p.A614fs 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 58 0 0.00 20 21 51.22 ARHGAP42 0 genome.wustl.edu 37 11 100830615 100830615 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 11 100830615 100830615 G T SNP ARHGAP42 ENST00000298815 human ensembl 74_37 +1 known missense c.1164 p.M388I 1.000 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP42 HGNC ENSG00000165895 tier1 - - 70 0 0.00 48 4 7.69 ARID1A 0 genome.wustl.edu 37 1 27023560 27023560 + Nonsense_Mutation SNP C C G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 27023560 27023560 C G SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.666 p.Y222* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 - - 43 0 0.00 2 4 66.67 ARMC4 0 genome.wustl.edu 37 10 28270417 28270417 + Missense_Mutation SNP A A C TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 28270417 28270417 A C SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known missense c.914 p.F305C 1.000 superfamily_GSKIP_dom pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 tier1 - - 38 0 0.00 75 43 36.44 ASB10 0 genome.wustl.edu 37 7 150883938 150883938 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 7 150883938 150883938 G T SNP ASB10 ENST00000422024 human ensembl 74_37 -1 known silent c.415 p.R139 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 76 0 0.00 31 2 6.06 AZGP1P1 0 genome.wustl.edu 37 7 99581017 99581017 + RNA SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 7 99581017 99581017 C T SNP AZGP1P1 ENST00000425474 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors AZGP1P1 HGNC ENSG00000214313 tier1 - - 189 0 0.00 87 35 28.69 BAZ2A 0 genome.wustl.edu 37 12 56995191 56995191 + RNA SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 12 56995191 56995191 G T SNP BAZ2A ENST00000553222 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors BAZ2A HGNC ENSG00000076108 tier1 - - 66 0 0.00 30 3 9.09 BICD2 0 genome.wustl.edu 37 9 95481343 95481344 + Frame_Shift_Del DEL CA CA - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 95481343 95481344 CA - DEL BICD2 ENST00000356884 human ensembl 74_37 -1 known frame_shift_del c.1584_1583 p.V528fs 1.000:1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 tier1 45 0 0.00 5 2 28.57 BORA 0 genome.wustl.edu 37 13 73320213 73320213 + Silent SNP A A C TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 13 73320213 73320213 A C SNP BORA ENST00000390667 human ensembl 74_37 +1 known silent c.870 p.S290 1.000 NULL prints_Aurora_borealis_protien - no_errors BORA HGNC ENSG00000136122 tier1 - - 46 0 0.00 67 6 8.22 BPNT1 0 genome.wustl.edu 37 1 220236122 220236122 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 220236122 220236122 G T SNP BPNT1 ENST00000322067 human ensembl 74_37 -1 known silent c.649 p.R217 0.890 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors BPNT1 HGNC ENSG00000162813 tier1 - - 108 0 0.00 59 4 6.35 BRCA1 0 genome.wustl.edu 37 17 41245977 41245977 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 17 41245977 41245977 G T SNP BRCA1 ENST00000471181 human ensembl 74_37 -1 known missense c.1571 p.A524E 0.115 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 tier1 - - 27 0 0.00 32 4 11.11 BSN 0 genome.wustl.edu 37 3 49694709 49694709 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 49694709 49694709 C A SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.7720 p.P2574T 0.992 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 142 0 0.00 42 4 8.70 C10orf112 0 genome.wustl.edu 37 10 19884240 19884240 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 19884240 19884240 C A SNP C10orf112 ENST00000454679 human ensembl 74_37 +1 known missense c.3896 p.S1299Y 0.971 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 tier1 - - 88 0 0.00 54 4 6.90 C10orf71 0 genome.wustl.edu 37 10 50534981 50534981 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 50534981 50534981 C A SNP C10orf71 ENST00000323868 human ensembl 74_37 +1 known missense c.2080 p.H694N 0.000 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 tier1 - - 41 0 0.00 20 4 16.00 C12orf55 0 genome.wustl.edu 37 12 97102427 97102427 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 12 97102427 97102427 G T SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative silent c.6570 p.L2190 0.023 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 37 0 0.00 62 4 6.06 C16orf91 0 genome.wustl.edu 37 16 1476241 1476241 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 16 1476241 1476241 G A SNP C16orf91 ENST00000310355 human ensembl 74_37 -1 known missense c.382 p.P128S 0.001 NULL prints_CCSMST1 - no_errors C16orf91 HGNC ENSG00000174109 tier1 - - 150 0 0.00 36 36 50.00 C16orf96 0 genome.wustl.edu 37 16 4638329 4638329 + Silent SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 16 4638329 4638329 C A SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known silent c.2589 p.T863 0.953 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 106 0 0.00 53 4 7.02 C19orf68 0 genome.wustl.edu 37 19 48675281 48675281 + Silent SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 48675281 48675281 C T SNP C19orf68 ENST00000328759 human ensembl 74_37 +1 known silent c.222 p.S74 1.000 NULL NULL - no_errors C19orf68 HGNC ENSG00000185453 tier1 - - 35 0 0.00 0 2 100.00 C5orf42 0 genome.wustl.edu 37 5 37226488 37226488 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 37226488 37226488 C A SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.2209 p.G737C 0.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 tier1 - - 52 0 0.00 57 4 6.56 C9orf84 0 genome.wustl.edu 37 9 114454721 114454721 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 114454721 114454721 G T SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known nonsense c.3344 p.S1115* 0.997 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 tier1 - - 37 0 0.00 68 5 6.85 CACNA1E 0 genome.wustl.edu 37 1 181701652 181701652 + Silent SNP C C G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 181701652 181701652 C G SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known silent c.2430 p.P810 0.778 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 200 0 0.00 20 15 41.67 CALB1 0 genome.wustl.edu 37 8 91072859 91072859 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 8 91072859 91072859 G T SNP CALB1 ENST00000265431 human ensembl 74_37 -1 known missense c.670 p.Q224K 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALB1 HGNC ENSG00000104327 58 0 0.00 73 4 5.19 CALR3 0 genome.wustl.edu 37 19 16594793 16594793 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 16594793 16594793 G A SNP CALR3 ENST00000269881 human ensembl 74_37 -1 known missense c.626 p.T209M 0.249 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,pirsf_Calreticulin pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,pirsf_Calreticulin,prints_Calret/calnex - no_errors CALR3 HGNC ENSG00000269058 tier1 - - 121 0 0.00 66 9 12.00 CASP2 0 genome.wustl.edu 37 7 142997515 142997515 + RNA SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 7 142997515 142997515 C T SNP CASP2 ENST00000493642 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CASP2 HGNC ENSG00000106144 tier1 - - 41 0 0.00 25 5 16.67 CC2D2B 0 genome.wustl.edu 37 10 97741806 97741806 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 97741806 97741806 G T SNP CC2D2B ENST00000472454 human ensembl 74_37 +1 novel missense c.1010 p.W337L 1.000 NULL NULL - no_errors RP11-248J23.6 Clone_based_vega_gene ENSG00000269948 tier1 - - 61 0 0.00 64 4 5.88 CCDC13 0 genome.wustl.edu 37 3 42777276 42777277 + Frame_Shift_Del DEL GG GG - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 42777276 42777277 GG - DEL CCDC13 ENST00000310232 human ensembl 74_37 -1 known frame_shift_del c.1294_1293 p.Q432fs 1.000:0.981 NULL superfamily_Prefoldin - no_errors CCDC13 HGNC ENSG00000244607 tier1 48 0 0.00 29 2 6.45 CCDC149 0 genome.wustl.edu 37 4 24838911 24838911 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 4 24838911 24838911 G T SNP CCDC149 ENST00000504487 human ensembl 74_37 -1 known missense c.601 p.H201N 1.000 pfam_Coiled-coil_dom-contain_pr_149 pfam_Coiled-coil_dom-contain_pr_149 - no_errors CCDC149 HGNC ENSG00000181982 96 0 0.00 35 4 10.26 CCDC88B 0 genome.wustl.edu 37 11 64117141 64117141 + Splice_Site SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 11 64117141 64117141 G T SNP CCDC88B ENST00000356786 human ensembl 74_37 +1 known splice_site c.2862+1 e16+1 1.000 - - - no_errors CCDC88B HGNC ENSG00000168071 72 0 0.00 27 2 6.90 CCNT2 0 genome.wustl.edu 37 2 135676490 135676490 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 135676490 135676490 G T SNP CCNT2 ENST00000264157 human ensembl 74_37 +1 known silent c.66 p.P22 1.000 pfam_Cyclin_N,superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT2 HGNC ENSG00000082258 tier1 - - 111 0 0.00 26 4 13.33 CDC42BPB 0 genome.wustl.edu 37 14 103478444 103478444 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 14 103478444 103478444 G T SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known missense c.257 p.A86D 1.000 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_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 tier1 - - 69 0 0.00 59 4 6.35 CDH4 0 genome.wustl.edu 37 20 60318683 60318683 + Missense_Mutation SNP A A C TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 20 60318683 60318683 A C SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.234 p.K78N 0.998 pfam_Cadherin_pro_dom,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 tier1 - - 59 0 0.00 36 15 29.41 CECR5 0 genome.wustl.edu 37 22 17619025 17619025 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 22 17619025 17619025 G T SNP CECR5 ENST00000336737 human ensembl 74_37 -1 known missense c.1158 p.H386Q 0.997 superfamily_HAD-like_dom superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_CECR5,tigrfam_HAD-SF_hydro_IIA - no_errors CECR5 HGNC ENSG00000069998 76 0 0.00 35 2 5.41 CHRM2 0 genome.wustl.edu 37 7 136555956 136555956 + RNA SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 7 136555956 136555956 G T SNP CHRM2 ENST00000480591 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CHRM2 HGNC ENSG00000181072 tier1 - - 217 0 0.00 75 4 5.06 CHRNA6 0 genome.wustl.edu 37 8 42612091 42612091 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 8 42612091 42612091 G T SNP CHRNA6 ENST00000276410 human ensembl 74_37 -1 known silent c.354 p.P118 0.992 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA6 HGNC ENSG00000147434 92 0 0.00 34 2 5.56 CHSY3 0 genome.wustl.edu 37 5 129521224 129521224 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 129521224 129521224 G T SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known missense c.2389 p.D797Y 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 tier1 - - 33 0 0.00 42 4 8.70 CLCN7 0 genome.wustl.edu 37 16 1497474 1497474 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 16 1497474 1497474 G T SNP CLCN7 ENST00000382745 human ensembl 74_37 -1 known silent c.2169 p.S723 1.000 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7 - no_errors CLCN7 HGNC ENSG00000103249 tier1 - - 133 0 0.00 18 4 18.18 CLDN5 0 genome.wustl.edu 37 22 19511944 19511944 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 22 19511944 19511944 G T SNP CLDN5 ENST00000403084 human ensembl 74_37 -1 known silent c.90 p.P30 0.015 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin5 - no_errors CLDN5 HGNC ENSG00000184113 tier1 - - 45 0 0.00 0 2 50.00 CLEC2L 0 genome.wustl.edu 37 7 139221067 139221067 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 7 139221067 139221067 G T SNP CLEC2L ENST00000422142 human ensembl 74_37 +1 novel missense c.238 p.A80S 0.999 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC2L HGNC ENSG00000236279 tier1 - - 78 0 0.00 50 4 7.41 CLK4 0 genome.wustl.edu 37 5 178032350 178032350 + Nonsense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 178032350 178032350 C A SNP CLK4 ENST00000316308 human ensembl 74_37 -1 known nonsense c.1168 p.E390* 1.000 pfam_Prot_kinase_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,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK4 HGNC ENSG00000113240 tier1 - - 48 0 0.00 57 4 6.56 COL4A1 0 genome.wustl.edu 37 13 110823055 110823055 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 13 110823055 110823055 G T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.3581 p.P1194Q 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 75 0 0.00 23 2 8.00 CPNE8 0 genome.wustl.edu 37 12 39071262 39071262 + Missense_Mutation SNP T T C TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 12 39071262 39071262 T C SNP CPNE8 ENST00000331366 human ensembl 74_37 -1 known missense c.1366 p.I456V 1.000 pfam_Copine,smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 tier1 - - 68 0 0.00 28 5 15.15 CREBBP 0 genome.wustl.edu 37 16 3778125 3778125 + Frame_Shift_Del DEL G G - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 16 3778125 3778125 G - DEL CREBBP ENST00000262367 human ensembl 74_37 -1 known frame_shift_del c.6923 p.P2308fs 0.999 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 tier1 149 0 0.00 37 2 5.13 CSF2RB 0 genome.wustl.edu 37 22 37322157 37322157 + Missense_Mutation SNP A A G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 22 37322157 37322157 A G SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known missense c.329 p.Y110C 0.282 pirsf_IL3_rcpt_beta,superfamily_Fibronectin_type3 pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 tier1 - - 56 0 0.00 36 9 20.00 CSF3R 0 genome.wustl.edu 37 1 36937229 36937229 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 36937229 36937229 C T SNP CSF3R ENST00000373103 human ensembl 74_37 -1 known missense c.1090 p.D364N 0.001 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 tier1 - - 76 0 0.00 25 12 32.43 CSMD1 0 genome.wustl.edu 37 8 2800061 2800061 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 8 2800061 2800061 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.10471 p.A3491T 1.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 102 0 0.00 60 4 6.25 CTBP2 0 genome.wustl.edu 37 10 126715318 126715318 + Silent SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 126715318 126715318 G A SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known silent c.1011 p.G337 1.000 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 tier1 - - 24 0 0.00 0 2 100.00 CTNNA2 0 genome.wustl.edu 37 2 79914693 79914694 + Frame_Shift_Ins INS - - T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 79914693 79914694 - T INS CTNNA2 ENST00000409266 human ensembl 74_37 +1 putative frame_shift_ins c.106_107 p.S39fs 0.005:0.005 NULL superfamily_Vinculin/catenin - no_errors CTNNA2 HGNC ENSG00000066032 tier1 54 0 0.00 65 10 13.33 CTNNBL1 0 genome.wustl.edu 37 20 36488710 36488710 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 20 36488710 36488710 G T SNP CTNNBL1 ENST00000405275 human ensembl 74_37 +1 known nonsense c.1486 p.G496* 1.000 NULL pfam_CTNNBL1_N,superfamily_ARM-type_fold - no_errors CTNNBL1 HGNC ENSG00000132792 87 0 0.00 76 4 5.00 CTNND1 0 genome.wustl.edu 37 11 57576892 57576892 + Nonsense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 11 57576892 57576892 C T SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known nonsense c.2389 p.R797* 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 tier1 - - 70 0 0.00 44 29 39.73 CWF19L1 0 genome.wustl.edu 37 10 101996654 101996654 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 101996654 101996654 G T SNP CWF19L1 ENST00000354105 human ensembl 74_37 -1 known missense c.1327 p.Q443K 1.000 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L1 HGNC ENSG00000095485 80 0 0.00 34 2 5.56 CYLC2 0 genome.wustl.edu 37 9 105767543 105767543 + Silent SNP A A G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 105767543 105767543 A G SNP CYLC2 ENST00000374798 human ensembl 74_37 +1 known silent c.630 p.K210 0.000 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 12 0 0.00 26 2 7.14 CYP2G1P 0 genome.wustl.edu 37 19 41404210 41404210 + RNA SNP C C G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 41404210 41404210 C G SNP CYP2G1P ENST00000252909 human ensembl 74_37 +1 known rna NULL NULL 0.078 - - - no_errors CYP2G1P HGNC ENSG00000130612 tier1 - - 202 0 0.00 66 41 37.96 CYP4X1 0 genome.wustl.edu 37 1 47515828 47515828 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 47515828 47515828 G T SNP CYP4X1 ENST00000371901 human ensembl 74_37 +1 known missense c.1512 p.K504N 0.750 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4X1 HGNC ENSG00000186377 tier1 - - 68 0 0.00 65 4 5.80 DAB2IP 0 genome.wustl.edu 37 9 124521267 124521267 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 124521267 124521267 C T SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known missense c.607 p.P203S 1.000 superfamily_C2_dom,smart_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 tier1 - - 74 0 0.00 19 7 26.92 DAGLA 0 genome.wustl.edu 37 11 61488305 61488305 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 11 61488305 61488305 G T SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.250 p.G84C 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 tier1 - - 54 0 0.00 28 4 12.50 DCDC1 0 genome.wustl.edu 37 11 31329396 31329396 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 11 31329396 31329396 G T SNP DCDC1 ENST00000452803 human ensembl 74_37 -1 known missense c.224 p.S75Y 0.902 NULL pfscan_Doublecortin_dom - no_errors DCDC1 HGNC ENSG00000170959 43 0 0.00 29 4 12.12 DCLRE1A 0 genome.wustl.edu 37 10 115612803 115612803 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 115612803 115612803 G T SNP DCLRE1A ENST00000361384 human ensembl 74_37 -1 known silent c.139 p.R47 0.305 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 66 0 0.00 58 4 6.45 DCST1 0 genome.wustl.edu 37 1 155020636 155020636 + Missense_Mutation SNP A A T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 155020636 155020636 A T SNP DCST1 ENST00000295542 human ensembl 74_37 +1 known missense c.1859 p.Q620L 0.942 NULL pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 25 0 0.00 14 3 17.65 DDB1 0 genome.wustl.edu 37 11 61068328 61068328 + Silent SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 11 61068328 61068328 G A SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known silent c.3292 p.L1098 1.000 pfam_Cleavage/polyA-sp_fac_asu_C pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 tier1 - - 143 0 0.00 78 15 16.13 DMAP1 0 genome.wustl.edu 37 1 44684856 44684856 + Silent SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 44684856 44684856 C T SNP DMAP1 ENST00000315913 human ensembl 74_37 +1 known silent c.849 p.R283 0.999 pfam_DMAP1 pfam_DMAP1,superfamily_Homeodomain-like - no_errors DMAP1 HGNC ENSG00000178028 tier1 - - 51 0 0.00 16 7 30.43 DMD 0 genome.wustl.edu 37 X 32509576 32509576 + Nonsense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 X 32509576 32509576 C A SNP DMD ENST00000357033 human ensembl 74_37 -1 known nonsense c.2440 p.E814* 0.939 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 35 0 0.00 24 10 29.41 DMRT1 0 genome.wustl.edu 37 9 968057 968057 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 968057 968057 G T SNP DMRT1 ENST00000382276 human ensembl 74_37 +1 known missense c.1040 p.S347I 1.000 NULL pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT1 HGNC ENSG00000137090 67 0 0.00 32 2 5.88 DNAH5 0 genome.wustl.edu 37 5 13928243 13928243 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 13928243 13928243 G T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.237 p.H79Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 41 0 0.00 37 4 9.76 DNASE2B 0 genome.wustl.edu 37 1 84867689 84867689 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 84867689 84867689 G T SNP DNASE2B ENST00000370665 human ensembl 74_37 +1 known missense c.231 p.E77D 0.000 pfam_DNase_II pfam_DNase_II - no_errors DNASE2B HGNC ENSG00000137976 tier1 - - 62 0 0.00 61 15 19.74 DOT1L 0 genome.wustl.edu 37 19 2211201 2211201 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 2211201 2211201 G T SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known missense c.1455 p.Q485H 1.000 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 tier1 - - 43 0 0.00 0 2 100.00 DPP6 0 genome.wustl.edu 37 7 154564561 154564561 + Missense_Mutation SNP A A G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 7 154564561 154564561 A G SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.1045 p.S349G 0.341 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 tier1 - - 68 0 0.00 27 12 30.77 DSPP 0 genome.wustl.edu 37 4 88535199 88535199 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 4 88535199 88535199 G T SNP DSPP ENST00000282478 human ensembl 74_37 +1 known missense c.1385 p.G462V 1.000 NULL NULL - no_errors DSPP HGNC ENSG00000152591 55 0 0.00 33 3 8.33 DYNLRB1 0 genome.wustl.edu 37 20 33122442 33122442 + Silent SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 20 33122442 33122442 C A SNP DYNLRB1 ENST00000417166 human ensembl 74_37 +1 known silent c.90 p.I30 1.000 pfam_Dynein_light-rel,smart_Dynein_light-rel pfam_Dynein_light-rel,smart_Dynein_light-rel - no_errors DYNLRB1 HGNC ENSG00000125971 tier1 - - 56 0 0.00 49 4 7.41 DYSF 0 genome.wustl.edu 37 2 71838712 71838712 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 71838712 71838712 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.4216 p.R1406W 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 tier1 - - 122 0 0.00 35 17 32.69 DZIP1L 0 genome.wustl.edu 37 3 137781729 137781729 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 137781729 137781729 G T SNP DZIP1L ENST00000327532 human ensembl 74_37 -1 known missense c.2233 p.R745S 0.001 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 tier1 - - 56 0 0.00 34 4 10.53 EDN3 0 genome.wustl.edu 37 20 57896131 57896131 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 20 57896131 57896131 C T SNP EDN3 ENST00000337938 human ensembl 74_37 +1 known missense c.425 p.A142V 0.000 NULL pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN3 HGNC ENSG00000124205 tier1 - - 116 0 0.00 22 34 60.71 EEF1D 0 genome.wustl.edu 37 8 144662314 144662314 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 8 144662314 144662314 C T SNP EEF1D ENST00000532400 human ensembl 74_37 -1 novel missense c.122 p.G41D 0.997 NULL NULL - no_errors EEF1D HGNC ENSG00000104529 tier1 - - 67 0 0.00 28 15 34.88 EEF2 0 genome.wustl.edu 37 19 3982032 3982032 + Silent SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 3982032 3982032 G A SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known silent c.810 p.N270 0.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 tier1 rs201754413 - 122 0 0.00 23 14 37.84 EFTUD1 0 genome.wustl.edu 37 15 82444463 82444463 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 15 82444463 82444463 G T SNP EFTUD1 ENST00000268206 human ensembl 74_37 -1 known missense c.2332 p.Q778K 1.000 superfamily_Ribosomal_S5_D2-typ_fold pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 51 0 0.00 32 2 5.88 EIF4B 0 genome.wustl.edu 37 12 53400186 53400186 + RNA SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 12 53400186 53400186 C T SNP EIF4B ENST00000551527 human ensembl 74_37 +1 known rna NULL NULL 0.966 - - - no_errors EIF4B HGNC ENSG00000063046 tier1 - - 87 0 0.00 16 7 30.43 ELL3 0 genome.wustl.edu 37 15 44068113 44068113 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 15 44068113 44068113 G T SNP ELL3 ENST00000319359 human ensembl 74_37 -1 known missense c.290 p.P97H 0.794 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL3 HGNC ENSG00000128886 tier1 - - 39 0 0.00 17 3 15.00 ELMO1 0 genome.wustl.edu 37 7 36934485 36934485 + Silent SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 7 36934485 36934485 C T SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known silent c.1575 p.Q525 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 tier1 - - 144 0 0.00 65 21 24.42 EMR1 0 genome.wustl.edu 37 19 6913704 6913704 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 6913704 6913704 C A SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known missense c.1163 p.S388Y 0.000 NULL pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 tier1 - - 92 0 0.00 51 17 25.00 ENO1 0 genome.wustl.edu 37 1 8921452 8921452 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 8921452 8921452 G T SNP ENO1 ENST00000234590 human ensembl 74_37 -1 known silent c.1272 p.A424 0.924 pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO1 HGNC ENSG00000074800 tier1 - - 92 0 0.00 68 4 5.56 ENSG00000162947 0 genome.wustl.edu 37 2 150714880 150714880 + RNA SNP A A G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 150714880 150714880 A G SNP ENSG00000162947 ENST00000295052 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC007364.1 Clone_based_vega_gene ENSG00000162947 tier1 - - 78 0 0.00 38 27 41.54 ENSG00000212928 0 genome.wustl.edu 37 14 57672583 57672583 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 14 57672583 57672583 G T SNP ENSG00000212928 ENST00000391612 human ensembl 74_37 +1 novel missense c.4 p.A2S 0.000 NULL NULL - no_errors AL391152.1 Clone_based_ensembl_gene ENSG00000212928 tier1 - - 57 0 0.00 76 4 5.00 ENSG00000212939 0 genome.wustl.edu 37 22 49947569 49947569 + RNA SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 22 49947569 49947569 G A SNP ENSG00000212939 ENST00000391625 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors RP1-29C18.10 Clone_based_vega_gene ENSG00000212939 tier1 - - 97 0 0.00 41 13 24.07 ENSG00000221474 0 genome.wustl.edu 37 3 122000728 122000729 + RNA DEL TG TG - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 122000728 122000729 TG - DEL ENSG00000221474 ENST00000408547 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.001 - - - no_errors AC068754.1 Clone_based_ensembl_gene ENSG00000221474 tier1 45 0 0.00 22 3 12.00 ENSG00000225241 0 genome.wustl.edu 37 1 144615258 144615258 + RNA SNP C C G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 144615258 144615258 C G SNP ENSG00000225241 ENST00000421407 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-640M9.2 Clone_based_vega_gene ENSG00000225241 tier1 - - 206 0 0.00 79 47 37.30 ENSG00000225241 0 genome.wustl.edu 37 1 144615289 144615289 + RNA SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 144615289 144615289 G A SNP ENSG00000225241 ENST00000421407 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors RP11-640M9.2 Clone_based_vega_gene ENSG00000225241 tier1 rs9441106 - 162 0 0.00 61 25 29.07 ENSG00000225241 0 genome.wustl.edu 37 1 144615290 144615290 + RNA SNP A A G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 144615290 144615290 A G SNP ENSG00000225241 ENST00000421407 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors RP11-640M9.2 Clone_based_vega_gene ENSG00000225241 tier1 rs9441135 - 161 0 0.00 62 25 28.74 ENSG00000225914 0 genome.wustl.edu 37 6 32231727 32231727 + RNA DEL T T - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 6 32231727 32231727 T - DEL ENSG00000225914 ENST00000425033 human ensembl 74_37 +1 known rna NULL NULL 0.374 - - - no_errors XXbac-BPG154L12.4 Clone_based_vega_gene ENSG00000225914 tier1 14 0 0.00 23 5 17.86 ENSG00000251793 0 genome.wustl.edu 37 6 16148585 16148586 + RNA INS - - T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 6 16148585 16148586 - T INS ENSG00000251793 ENST00000515984 human ensembl 74_37 -1 novel rna NULL NULL 0.008:0.031 - - - no_errors U3 RFAM ENSG00000251793 tier1 9 0 0.00 16 3 15.79 ENSG00000257931 0 genome.wustl.edu 37 14 19969548 19969548 + RNA SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 14 19969548 19969548 G T SNP ENSG00000257931 ENST00000547399 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors CTD-2311B13.7 Clone_based_vega_gene ENSG00000257931 23 0 0.00 25 4 13.79 ENSG00000259966 0 genome.wustl.edu 37 16 32621269 32621269 + Splice_Site SNP T T G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 16 32621269 32621269 T G SNP ENSG00000259966 ENST00000566952 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.001 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 tier1 - - 404 0 0.00 100 78 43.82 ENSG00000261863 0 genome.wustl.edu 37 17 4520362 4520362 + RNA DEL A A - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 17 4520362 4520362 A - DEL ENSG00000261863 ENST00000573270 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors RP11-141J13.5 Clone_based_vega_gene ENSG00000261863 tier1 26 0 0.00 13 3 18.75 ENTHD1 0 genome.wustl.edu 37 22 40140082 40140082 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 22 40140082 40140082 C A SNP ENTHD1 ENST00000325157 human ensembl 74_37 -1 known missense c.1426 p.G476C 0.000 NULL pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors ENTHD1 HGNC ENSG00000176177 tier1 - - 48 0 0.00 39 4 9.30 ERAL1 0 genome.wustl.edu 37 17 27184985 27184985 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 17 27184985 27184985 G T SNP ERAL1 ENST00000254928 human ensembl 74_37 +1 known missense c.518 p.S173I 1.000 pfam_GTP_binding_domain,pfam_MIRO-like,pfam_AIG1,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom pfam_GTP_binding_domain,pfam_MIRO-like,pfam_Dynamin_GTPase,pfam_AIG1,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_KH_prok-type,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors ERAL1 HGNC ENSG00000132591 99 0 0.00 74 4 5.13 FAM189B 0 genome.wustl.edu 37 1 155220921 155220921 + Missense_Mutation SNP G G C TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 155220921 155220921 G C SNP FAM189B ENST00000361361 human ensembl 74_37 -1 known missense c.929 p.S310W 1.000 NULL pfam_CD20-like - no_errors FAM189B HGNC ENSG00000160767 tier1 - - 32 0 0.00 13 10 43.48 FCHO1 0 genome.wustl.edu 37 19 17883316 17883316 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 17883316 17883316 G T SNP FCHO1 ENST00000252771 human ensembl 74_37 +1 known silent c.645 p.L215 0.997 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO1 HGNC ENSG00000130475 tier1 - - 97 0 0.00 61 4 6.15 FCRL5 0 genome.wustl.edu 37 1 157504488 157504488 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 157504488 157504488 C T SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known missense c.1597 p.E533K 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 tier1 - - 78 0 0.00 24 32 57.14 FLG 0 genome.wustl.edu 37 1 152276780 152276780 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 152276780 152276780 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.10582 p.G3528R 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 196 0 0.00 112 21 15.79 FLJ35934 0 genome.wustl.edu 37 17 18315401 18315401 + RNA SNP T T G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 17 18315401 18315401 T G SNP FLJ35934 ENST00000577684 human ensembl 74_37 +1 known rna NULL NULL 0.990 - - - no_errors RP1-37N7.3 Clone_based_vega_gene ENSG00000220161 tier1 - - 15 0 0.00 2 2 50.00 FOXD4L3 0 genome.wustl.edu 37 9 70917939 70917939 + Silent SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 70917939 70917939 C T SNP FOXD4L3 ENST00000342833 human ensembl 74_37 +1 known silent c.72 p.D24 0.164 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L3 HGNC ENSG00000187559 tier1 - - 55 0 0.00 14 4 22.22 FRMD8 0 genome.wustl.edu 37 11 65172424 65172424 + Silent SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 11 65172424 65172424 G A SNP FRMD8 ENST00000317568 human ensembl 74_37 +1 known silent c.1161 p.S387 0.014 NULL pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD8 HGNC ENSG00000126391 tier1 rs149330420 - 82 0 0.00 6 10 62.50 FTMT 0 genome.wustl.edu 37 5 121188036 121188036 + Silent SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 121188036 121188036 G A SNP FTMT ENST00000321339 human ensembl 74_37 +1 known silent c.378 p.A126 0.001 pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTMT HGNC ENSG00000181867 tier1 - - 65 0 0.00 18 11 37.93 FXYD3 0 genome.wustl.edu 37 19 35612193 35612193 + Silent SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 35612193 35612193 C T SNP FXYD3 ENST00000454903 human ensembl 74_37 +1 known silent c.141 p.Y47 0.000 NULL NULL - no_errors FXYD3 HGNC ENSG00000089356 tier1 - - 179 0 0.00 65 45 40.91 GAB4 0 genome.wustl.edu 37 22 17450854 17450854 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 22 17450854 17450854 C T SNP GAB4 ENST00000400588 human ensembl 74_37 -1 known missense c.916 p.G306S 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 tier1 - - 113 0 0.00 61 5 7.58 GABRB3 0 genome.wustl.edu 37 15 26792964 26792964 + Silent SNP A A C TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 15 26792964 26792964 A C SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known silent c.1398 p.V466 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 tier1 - - 23 0 0.00 5 3 37.50 GALNT2 0 genome.wustl.edu 37 1 230415060 230415060 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 230415060 230415060 G T SNP GALNT2 ENST00000366672 human ensembl 74_37 +1 known missense c.1572 p.Q524H 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT2 HGNC ENSG00000143641 tier1 - - 53 0 0.00 22 4 15.38 GDAP1 0 genome.wustl.edu 37 8 75263518 75263518 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 8 75263518 75263518 G T SNP GDAP1 ENST00000220822 human ensembl 74_37 +1 known missense c.127 p.V43L 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors GDAP1 HGNC ENSG00000104381 tier1 - - 111 0 0.00 65 5 7.14 GHRLOS 0 genome.wustl.edu 37 3 10334448 10334449 + RNA INS - - A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 10334448 10334449 - A INS GHRLOS ENST00000439539 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors GHRLOS HGNC ENSG00000240288 tier1 12 0 0.00 6 4 40.00 GLIS3 0 genome.wustl.edu 37 9 3856151 3856151 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 3856151 3856151 G T SNP GLIS3 ENST00000381971 human ensembl 74_37 -1 known silent c.2331 p.I777 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 tier1 - - 64 0 0.00 34 4 10.53 GNA14 0 genome.wustl.edu 37 9 80262587 80262589 + In_Frame_Del DEL CAG CAG - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 80262587 80262589 CAG - DEL GNA14 ENST00000341700 human ensembl 74_37 -1 known in_frame_del c.123_121 p.L41in_frame_del 1.000:1.000:1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA14 HGNC ENSG00000156049 tier1 99 0 0.00 18 2 10.00 GOLGA2 0 genome.wustl.edu 37 9 131020087 131020087 + Nonsense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 131020087 131020087 C A SNP GOLGA2 ENST00000421699 human ensembl 74_37 -1 known nonsense c.2512 p.G838* 0.997 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 tier1 - - 130 0 0.00 46 4 8.00 GOLGA4 0 genome.wustl.edu 37 3 37360696 37360697 + RNA INS - - T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 37360696 37360697 - T INS GOLGA4 ENST00000435830 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.005 - - - no_errors GOLGA4 HGNC ENSG00000144674 tier1 32 0 0.00 22 3 12.00 GPR112 0 genome.wustl.edu 37 X 135427224 135427224 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 X 135427224 135427224 G T SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.1359 p.K453N 0.008 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 tier1 - - 25 0 0.00 9 3 25.00 GPR158 0 genome.wustl.edu 37 10 25887231 25887231 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 25887231 25887231 G T SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known silent c.2676 p.G892 0.887 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 57 0 0.00 54 4 6.90 GTF3C5 0 genome.wustl.edu 37 9 135906458 135906458 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 135906458 135906458 G T SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known silent c.60 p.R20 0.490 NULL pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 tier1 - - 99 0 0.00 8 3 27.27 H1FX-AS1 0 genome.wustl.edu 37 3 129037060 129037060 + RNA SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 129037060 129037060 G A SNP H1FX-AS1 ENST00000383461 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors H1FX-AS1 HGNC ENSG00000206417 tier1 - - 65 0 0.00 24 17 41.46 HDAC9 0 genome.wustl.edu 37 7 18788726 18788726 + Nonsense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 7 18788726 18788726 C T SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known nonsense c.2008 p.R670* 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 tier1 - - 63 0 0.00 22 12 35.29 HECTD3 0 genome.wustl.edu 37 1 45473171 45473171 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 45473171 45473171 G A SNP HECTD3 ENST00000372172 human ensembl 74_37 -1 known missense c.1417 p.R473C 0.992 NULL pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC ENSG00000126107 55 0 0.00 44 3 6.38 HIBCH 0 genome.wustl.edu 37 2 191116968 191116968 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 191116968 191116968 G T SNP HIBCH ENST00000359678 human ensembl 74_37 -1 known missense c.583 p.L195I 1.000 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam - no_errors HIBCH HGNC ENSG00000198130 tier1 - - 82 0 0.00 73 4 5.19 HIST1H4C 0 genome.wustl.edu 37 6 26104455 26104455 + Missense_Mutation SNP C C G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 6 26104455 26104455 C G SNP HIST1H4C ENST00000377803 human ensembl 74_37 +1 known missense c.280 p.Q94E 1.000 pfam_Histone_core_D,superfamily_Histone-fold,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4C HGNC ENSG00000197061 tier1 - - 60 0 0.00 50 9 15.25 HMBOX1 0 genome.wustl.edu 37 8 28827691 28827691 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 8 28827691 28827691 G A SNP HMBOX1 ENST00000444075 human ensembl 74_37 +1 known missense c.155 p.R52H 1.000 pfam_HNF-1_N pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HMBOX1 HGNC ENSG00000147421 tier1 - - 46 0 0.00 34 8 19.05 HNRNPH1 0 genome.wustl.edu 37 5 179050064 179050064 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 179050064 179050064 G A SNP HNRNPH1 ENST00000356731 human ensembl 74_37 -1 known missense c.71 p.A24V 0.678 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH1 HGNC ENSG00000169045 tier1 - - 154 0 0.00 35 4 10.26 HRH1 0 genome.wustl.edu 37 3 11301579 11301579 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 11301579 11301579 C A SNP HRH1 ENST00000397056 human ensembl 74_37 +1 known missense c.856 p.P286T 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt - no_errors HRH1 HGNC ENSG00000196639 70 0 0.00 27 3 10.00 IARS 0 genome.wustl.edu 37 9 95043051 95043051 + Missense_Mutation SNP T T A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 95043051 95043051 T A SNP IARS ENST00000375643 human ensembl 74_37 -1 known missense c.722 p.E241V 0.996 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS HGNC ENSG00000196305 tier1 - - 60 0 0.00 80 13 13.98 IFIT2 0 genome.wustl.edu 37 10 91066977 91066977 + Nonsense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 91066977 91066977 C T SNP IFIT2 ENST00000371826 human ensembl 74_37 +1 known nonsense c.1264 p.R422* 0.007 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT2 HGNC ENSG00000119922 63 0 0.00 38 2 5.00 IGSF11 0 genome.wustl.edu 37 3 118649028 118649028 + Silent SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 118649028 118649028 G A SNP IGSF11 ENST00000393775 human ensembl 74_37 -1 known silent c.147 p.S49 0.360 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF11 HGNC ENSG00000144847 tier1 - - 84 0 0.00 38 7 15.56 IL1A 0 genome.wustl.edu 37 2 113539200 113539200 + Silent SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 113539200 113539200 G A SNP IL1A ENST00000263339 human ensembl 74_37 -1 known silent c.300 p.I100 0.216 pfam_IL-1_propep,prints_IL-1_alpha pfam_IL-1_propep,pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1_alpha,prints_IL-1_alpha/beta,prints_IL-1 - no_errors IL1A HGNC ENSG00000115008 tier1 - - 122 0 0.00 78 34 30.36 IL25 0 genome.wustl.edu 37 14 23844855 23844855 + Silent SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 14 23844855 23844855 G A SNP IL25 ENST00000329715 human ensembl 74_37 +1 known silent c.300 p.R100 1.000 pfam_IL-17_fam pfam_IL-17_fam - no_errors IL25 HGNC ENSG00000166090 135 0 0.00 43 4 8.51 IMPDH2 0 genome.wustl.edu 37 3 49065323 49065323 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 49065323 49065323 G T SNP IMPDH2 ENST00000326739 human ensembl 74_37 -1 known missense c.351 p.D117E 1.000 pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,smart_CBS_dom,pirsf_IMP_DH,tigrfam_IMP_DH pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,pfam_NanE,smart_CBS_dom,pirsf_IMP_DH,tigrfam_IMP_DH - no_errors IMPDH2 HGNC ENSG00000178035 tier1 - - 81 0 0.00 44 4 8.33 ING3 0 genome.wustl.edu 37 7 120593360 120593360 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 7 120593360 120593360 G T SNP ING3 ENST00000315870 human ensembl 74_37 +1 known missense c.103 p.A35S 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING3 HGNC ENSG00000071243 tier1 - - 29 0 0.00 57 4 6.45 INHBA 0 genome.wustl.edu 37 7 41729607 41729607 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 7 41729607 41729607 G A SNP INHBA ENST00000242208 human ensembl 74_37 -1 known missense c.922 p.R308C 0.992 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 tier1 - - 57 0 0.00 33 16 32.65 INPP5D 0 genome.wustl.edu 37 2 234056177 234056177 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 234056177 234056177 G T SNP INPP5D ENST00000359570 human ensembl 74_37 +1 known missense c.931 p.G311W 1.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 tier1 - - 100 0 0.00 57 4 6.56 INPP5D 0 genome.wustl.edu 37 2 234094525 234094525 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 234094525 234094525 G T SNP INPP5D ENST00000359570 human ensembl 74_37 +1 known missense c.2276 p.G759V 0.996 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 tier1 - - 101 0 0.00 55 4 6.78 IQGAP3 0 genome.wustl.edu 37 1 156502788 156502788 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 156502788 156502788 G T SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known missense c.4087 p.R1363S 0.035 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 tier1 - - 75 0 0.00 42 4 8.70 IRF6 0 genome.wustl.edu 37 1 209963069 209963069 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 209963069 209963069 G T SNP IRF6 ENST00000367021 human ensembl 74_37 -1 known nonsense c.1122 p.C374* 1.000 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF6 HGNC ENSG00000117595 76 0 0.00 50 4 7.41 ITGB3BP 0 genome.wustl.edu 37 1 63912271 63912271 + RNA SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 63912271 63912271 C T SNP ITGB3BP ENST00000478538 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ITGB3BP HGNC ENSG00000142856 tier1 - - 18 0 0.00 13 7 35.00 IVL 0 genome.wustl.edu 37 1 152883028 152883028 + Missense_Mutation SNP A A T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 152883028 152883028 A T SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.755 p.Q252L 0.000 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 tier1 - - 97 0 0.00 31 8 20.51 KALRN 0 genome.wustl.edu 37 3 124165720 124165720 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 124165720 124165720 G T SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.3534 p.R1178S 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 tier1 - - 83 0 0.00 52 4 7.14 KANK1 0 genome.wustl.edu 37 9 710961 710961 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 710961 710961 G T SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known missense c.195 p.K65N 1.000 pfam_KN_motif pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 tier1 - - 71 0 0.00 34 4 10.53 KANK2 0 genome.wustl.edu 37 19 11287353 11287353 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 11287353 11287353 G A SNP KANK2 ENST00000432929 human ensembl 74_37 -1 known missense c.1685 p.A562V 0.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 51 0 0.00 14 2 12.50 KCNQ2 0 genome.wustl.edu 37 20 62070961 62070961 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 20 62070961 62070961 G A SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known missense c.917 p.A306V 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 tier1 - - 253 0 0.00 67 64 48.48 KCNQ5 0 genome.wustl.edu 37 6 73787086 73787086 + Missense_Mutation SNP A A G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 6 73787086 73787086 A G SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.658 p.K220E 1.000 pfam_Ion_trans_dom pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 tier1 - - 72 0 0.00 39 13 25.00 KCNU1 0 genome.wustl.edu 37 8 36692334 36692334 + Missense_Mutation SNP G G C TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 8 36692334 36692334 G C SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known missense c.1243 p.A415P 1.000 prints_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 tier1 - - 55 0 0.00 45 13 22.41 KDM6A 0 genome.wustl.edu 37 X 44920585 44920585 + Nonsense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 X 44920585 44920585 G A SNP KDM6A ENST00000382899 human ensembl 74_37 +1 known nonsense c.1367 p.W456* 1.000 NULL pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 tier1 - - 29 0 0.00 21 28 57.14 KIAA0100 0 genome.wustl.edu 37 17 26961608 26961608 + Silent SNP A A G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 17 26961608 26961608 A G SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known silent c.2997 p.P999 0.973 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 tier1 - - 91 0 0.00 63 4 5.97 KIAA0319L 0 genome.wustl.edu 37 1 35915580 35915580 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 35915580 35915580 G T SNP KIAA0319L ENST00000325722 human ensembl 74_37 -1 known missense c.2241 p.H747Q 1.000 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319L HGNC ENSG00000142687 tier1 - - 80 0 0.00 44 4 8.33 KIAA1239 0 genome.wustl.edu 37 4 37447165 37447165 + Silent SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 4 37447165 37447165 C T SNP KIAA1239 ENST00000309447 human ensembl 74_37 +1 known silent c.3555 p.C1185 1.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 tier1 - - 101 0 0.00 55 4 6.78 KIAA1430 0 genome.wustl.edu 37 4 186084009 186084009 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 4 186084009 186084009 G T SNP KIAA1430 ENST00000458385 human ensembl 74_37 -1 novel silent c.1542 p.S514 0.012 NULL NULL - no_errors KIAA1430 HGNC ENSG00000164323 tier1 - - 116 0 0.00 49 4 7.55 KIAA1549 0 genome.wustl.edu 37 7 138554434 138554434 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 7 138554434 138554434 C T SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.4625 p.R1542H 0.996 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 tier1 - - 53 0 0.00 23 12 34.29 KIAA2018 0 genome.wustl.edu 37 3 113374665 113374665 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 113374665 113374665 G T SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.5864 p.S1955Y 0.989 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 67 0 0.00 37 2 5.13 KIAA2018 0 genome.wustl.edu 37 3 113376052 113376052 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 113376052 113376052 G T SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.4477 p.H1493N 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 59 0 0.00 26 2 7.14 KIDINS220 0 genome.wustl.edu 37 2 8890423 8890423 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 8890423 8890423 G A SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known missense c.3233 p.A1078V 0.286 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 tier1 - - 41 0 0.00 24 12 33.33 KIF21B 0 genome.wustl.edu 37 1 200959451 200959451 + Nonsense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 200959451 200959451 C A SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known nonsense c.2845 p.E949* 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 tier1 - - 40 0 0.00 10 3 23.08 KIF3C 0 genome.wustl.edu 37 2 26152860 26152860 + Silent SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 26152860 26152860 C A SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known silent c.2079 p.R693 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 tier1 - - 118 0 0.00 40 16 28.57 KIN 0 genome.wustl.edu 37 10 7817764 7817765 + Splice_Site INS - - A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 7817764 7817765 - A INS KIN ENST00000379562 human ensembl 74_37 -1 known splice_site_ins c.559-3_559-2 e6-2 0.999:0.029 - - - no_errors KIN HGNC ENSG00000151657 tier1 39 0 0.00 54 4 6.90 KLHL29 0 genome.wustl.edu 37 2 23916217 23916217 + Missense_Mutation SNP T T A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 23916217 23916217 T A SNP KLHL29 ENST00000486442 human ensembl 74_37 +1 known missense c.1361 p.M454K 1.000 pfam_BACK,smart_BACK pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL29 HGNC ENSG00000119771 tier1 - - 83 0 0.00 16 7 30.43 KLK4 0 genome.wustl.edu 37 19 51411835 51411835 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 51411835 51411835 C T SNP KLK4 ENST00000324041 human ensembl 74_37 -1 known missense c.475 p.G159S 0.225 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK4 HGNC ENSG00000167749 tier1 - - 71 0 0.00 13 11 45.83 KMT2A 0 genome.wustl.edu 37 11 118347598 118347598 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 11 118347598 118347598 C A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.3235 p.L1079I 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 122 0 0.00 58 4 6.45 KMT2A 0 genome.wustl.edu 37 11 118362639 118362639 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 11 118362639 118362639 G T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.4991 p.R1664L 1.000 smart_Bromodomain,pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 51 0 0.00 51 4 7.27 KRI1 0 genome.wustl.edu 37 19 10664803 10664803 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 10664803 10664803 G T SNP KRI1 ENST00000312962 human ensembl 74_37 -1 known missense c.1954 p.P652T 0.022 NULL pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 150 0 0.00 52 4 7.14 LCTL 0 genome.wustl.edu 37 15 66850360 66850360 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 15 66850360 66850360 G T SNP LCTL ENST00000341509 human ensembl 74_37 -1 known silent c.720 p.A240 0.998 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCTL HGNC ENSG00000188501 154 0 0.00 76 4 5.00 LHX9 0 genome.wustl.edu 37 1 197890745 197890745 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 197890745 197890745 G A SNP LHX9 ENST00000367387 human ensembl 74_37 +1 known missense c.689 p.R230Q 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX9 HGNC ENSG00000143355 tier1 - - 114 0 0.00 12 14 53.85 LINC00052 0 genome.wustl.edu 37 15 88121520 88121521 + RNA DEL TC TC - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 15 88121520 88121521 TC - DEL LINC00052 ENST00000560153 human ensembl 74_37 +1 known rna NULL NULL 0.018:0.021 - - - no_errors LINC00052 HGNC ENSG00000259527 tier1 35 0 0.00 10 2 16.67 LINC00661 0 genome.wustl.edu 37 19 16136437 16136437 + RNA SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 16136437 16136437 G T SNP LINC00661 ENST00000549354 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors LINC00661 HGNC ENSG00000205396 141 0 0.00 67 4 5.63 LOC100288866 0 genome.wustl.edu 37 17 47583543 47583543 + RNA SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 17 47583543 47583543 G A SNP LOC100288866 ENST00000514506 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-1029K10.2 Clone_based_vega_gene ENSG00000249906 tier1 - - 63 0 0.00 32 8 20.00 LOC101927345 0 genome.wustl.edu 37 1 143391578 143391578 + RNA SNP T T G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 143391578 143391578 T G SNP LOC101927345 ENST00000412492 human ensembl 74_37 +1 known rna NULL NULL 0.685 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 142 0 0.00 277 58 17.31 LOC101929290 0 genome.wustl.edu 37 8 11177526 11177526 + RNA DEL T T - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 8 11177526 11177526 T - DEL LOC101929290 ENST00000498997 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors AF131216.6 Clone_based_vega_gene ENSG00000246477 tier1 13 0 0.00 10 4 28.57 LOC101930401 0 genome.wustl.edu 37 4 70047830 70047830 + RNA SNP A A T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 4 70047830 70047830 A T SNP LOC101930401 ENST00000504301 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-704M14.1 Clone_based_vega_gene ENSG00000250696 tier1 - - 36 0 0.00 25 30 54.55 LOC728715 0 genome.wustl.edu 37 12 9711038 9711038 + RNA SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 12 9711038 9711038 C T SNP LOC728715 ENST00000520314 human ensembl 74_37 +1 known rna NULL NULL 0.969 - - - no_errors RP11-726G1.1 Clone_based_vega_gene ENSG00000214776 tier1 - - 159 0 0.00 124 8 6.06 LOXL3 0 genome.wustl.edu 37 2 74762859 74762859 + Missense_Mutation SNP G G C TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 74762859 74762859 G C SNP LOXL3 ENST00000264094 human ensembl 74_37 -1 known missense c.1272 p.S424R 0.964 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL3 HGNC ENSG00000115318 tier1 - - 49 0 0.00 10 4 28.57 LPPR4 0 genome.wustl.edu 37 1 99764674 99764674 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 99764674 99764674 C A SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known missense c.622 p.L208M 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 tier1 - - 35 0 0.00 52 4 7.14 LRCOL1 0 genome.wustl.edu 37 12 133179844 133179844 + RNA SNP A A G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 12 133179844 133179844 A G SNP LRCOL1 ENST00000376608 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LRCOL1 HGNC ENSG00000204583 tier1 - - 130 0 0.00 30 5 14.29 LRRC32 0 genome.wustl.edu 37 11 76371080 76371080 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 11 76371080 76371080 G T SNP LRRC32 ENST00000260061 human ensembl 74_37 -1 known silent c.1557 p.L519 0.998 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 tier1 - - 57 0 0.00 12 3 20.00 LRRC8E 0 genome.wustl.edu 37 19 7960626 7960626 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 7960626 7960626 G T SNP LRRC8E ENST00000306708 human ensembl 74_37 +1 known missense c.138 p.Q46H 1.000 pfam_LRR_protein-8_N pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC ENSG00000171017 tier1 - - 136 0 0.00 43 5 10.42 LRRC9 0 genome.wustl.edu 37 14 60483399 60483399 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 14 60483399 60483399 G A SNP LRRC9 ENST00000254271 human ensembl 74_37 +1 known missense c.3208 p.A1070T 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC9 HGNC ENSG00000131951 52 0 0.00 67 4 5.63 LSM14A 0 genome.wustl.edu 37 19 34685532 34685532 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 34685532 34685532 C A SNP LSM14A ENST00000433627 human ensembl 74_37 +1 known missense c.271 p.P91T 1.000 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14A HGNC ENSG00000257103 tier1 - - 75 0 0.00 68 22 24.18 MAL 0 genome.wustl.edu 37 2 95719156 95719156 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 95719156 95719156 G A SNP MAL ENST00000309988 human ensembl 74_37 +1 known missense c.418 p.V140M 1.000 pfam_Marvel pfam_Marvel,prints_MAL - no_errors MAL HGNC ENSG00000172005 tier1 - - 92 0 0.00 47 8 14.55 MANEAL 0 genome.wustl.edu 37 1 38265826 38265826 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 38265826 38265826 G A SNP MANEAL ENST00000373045 human ensembl 74_37 +1 known missense c.1325 p.R442H 1.000 NULL NULL - no_errors MANEAL HGNC ENSG00000185090 67 0 0.00 32 4 11.11 MAP3K9 0 genome.wustl.edu 37 14 71209233 71209233 + Frame_Shift_Del DEL G G - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 14 71209233 71209233 G - DEL MAP3K9 ENST00000555993 human ensembl 74_37 -1 known frame_shift_del c.1402 p.R468fs 1.000 pirsf_MAPKKK9/10/11,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K9 HGNC ENSG00000006432 tier1 64 0 0.00 19 2 9.52 MBD1 0 genome.wustl.edu 37 18 47801528 47801528 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 18 47801528 47801528 G T SNP MBD1 ENST00000424334 human ensembl 74_37 -1 known missense c.1033 p.P345T 0.000 NULL pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 tier1 - - 198 0 0.00 17 4 19.05 MCCC2 0 genome.wustl.edu 37 5 70939714 70939714 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 70939714 70939714 G A SNP MCCC2 ENST00000340941 human ensembl 74_37 +1 known missense c.1141 p.A381T 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors MCCC2 HGNC ENSG00000131844 tier1 - - 70 0 0.00 65 4 5.80 MED20 0 genome.wustl.edu 37 6 41884553 41884553 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 6 41884553 41884553 G T SNP MED20 ENST00000265350 human ensembl 74_37 -1 known missense c.139 p.H47N 1.000 pfam_Mediator_Med20 pfam_Mediator_Med20 - no_errors MED20 HGNC ENSG00000124641 128 0 0.00 75 4 5.06 MEF2C 0 genome.wustl.edu 37 5 88178821 88178824 + RNA DEL AGAG AGAG - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 AGAG AGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 88178821 88178824 AGAG - DEL MEF2C ENST00000509349 human ensembl 74_37 -1 known rna NULL NULL 0.991:0.982:0.984:0.971 - - - no_errors MEF2C HGNC ENSG00000081189 tier1 27 0 0.00 6 2 25.00 MELK 0 genome.wustl.edu 37 9 36665360 36665360 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 36665360 36665360 G T SNP MELK ENST00000298048 human ensembl 74_37 +1 known missense c.1190 p.W397L 0.997 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MELK HGNC ENSG00000165304 35 0 0.00 63 4 5.97 MGAT5B 0 genome.wustl.edu 37 17 74898751 74898751 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 17 74898751 74898751 G T SNP MGAT5B ENST00000428789 human ensembl 74_37 +1 known missense c.477 p.K159N 1.000 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 tier1 - - 103 0 0.00 42 4 8.70 MIR137HG 0 genome.wustl.edu 37 1 98511629 98511629 + RNA SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 98511629 98511629 C T SNP MIR137HG ENST00000385223 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR137HG HGNC ENSG00000225206 tier1 - - 198 0 0.00 61 46 42.99 MIR620 0 genome.wustl.edu 37 12 116586414 116586414 + RNA SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 12 116586414 116586414 C A SNP MIR620 ENST00000385232 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR620 HGNC ENSG00000207967 35 0 0.00 69 5 6.76 MIXL1 0 genome.wustl.edu 37 1 226413645 226413645 + RNA SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 226413645 226413645 C T SNP MIXL1 ENST00000557734 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors MIXL1 HGNC ENSG00000185155 tier1 - - 14 0 0.00 5 4 44.44 MMS22L 0 genome.wustl.edu 37 6 97599647 97599647 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 6 97599647 97599647 C A SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known missense c.3482 p.R1161M 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 tier1 - - 97 0 0.00 65 4 5.80 MOV10L1 0 genome.wustl.edu 37 22 50530519 50530519 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 22 50530519 50530519 G T SNP MOV10L1 ENST00000262794 human ensembl 74_37 +1 known missense c.187 p.D63Y 0.748 superfamily_NA-bd_OB-fold superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 tier1 - - 100 0 0.00 51 4 7.27 MOV10L1 0 genome.wustl.edu 37 22 50582644 50582644 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 22 50582644 50582644 G T SNP MOV10L1 ENST00000262794 human ensembl 74_37 +1 known missense c.2477 p.R826L 0.764 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 tier1 - - 46 0 0.00 16 3 15.79 MPDZ 0 genome.wustl.edu 37 9 13133903 13133903 + Missense_Mutation SNP T T C TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 13133903 13133903 T C SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.4384 p.T1462A 0.846 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 tier1 - - 73 0 0.00 56 10 15.15 MST1R 0 genome.wustl.edu 37 3 49932735 49932735 + Nonsense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 49932735 49932735 C A SNP MST1R ENST00000296474 human ensembl 74_37 -1 known nonsense c.3136 p.E1046* 0.060 pirsf_Tyr_kinase_HGF/MSP_rcpt pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 tier1 - - 93 0 0.00 60 4 6.25 MUC16 0 genome.wustl.edu 37 19 9080541 9080541 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 9080541 9080541 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.9490 p.L3164I 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 124 0 0.00 68 4 5.56 MYADML 0 genome.wustl.edu 37 2 33953027 33953027 + RNA SNP A A G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 33953027 33953027 A G SNP MYADML ENST00000474610 human ensembl 74_37 -1 known rna NULL NULL 0.879 - - - no_errors MYADML HGNC ENSG00000239649 tier1 - - 29 0 0.00 11 3 21.43 MYO15A 0 genome.wustl.edu 37 17 18022244 18022244 + Frame_Shift_Del DEL A A - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 17 18022244 18022244 A - DEL MYO15A ENST00000205890 human ensembl 74_37 +1 known frame_shift_del c.130 p.T44fs 0.712 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 tier1 90 0 0.00 17 2 10.53 MYO18A 0 genome.wustl.edu 37 17 27417116 27417116 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 17 27417116 27417116 G T SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known missense c.5389 p.L1797I 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 74 0 0.00 36 2 5.26 MYPN 0 genome.wustl.edu 37 10 69970097 69970097 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 69970097 69970097 G A SNP MYPN ENST00000358913 human ensembl 74_37 +1 known missense c.3848 p.R1283H 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 tier1 - - 83 0 0.00 31 26 45.61 N4BP3 0 genome.wustl.edu 37 5 177547253 177547253 + Silent SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 177547253 177547253 G A SNP N4BP3 ENST00000274605 human ensembl 74_37 +1 known silent c.405 p.A135 0.167 NULL NULL - no_errors N4BP3 HGNC ENSG00000145911 tier1 - - 95 0 0.00 14 5 26.32 NAA25 0 genome.wustl.edu 37 12 112528595 112528595 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 12 112528595 112528595 G A SNP NAA25 ENST00000261745 human ensembl 74_37 -1 known missense c.218 p.A73V 1.000 pfscan_TPR-contain_dom pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 tier1 - - 101 0 0.00 57 4 6.45 NBPF20 0 genome.wustl.edu 37 1 148346634 148346635 + Frame_Shift_Del DEL TC TC - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 148346634 148346635 TC 0 DEL NBPF20 ENST00000369202 human ensembl 74_37 -1 known frame_shift_del c.123_122 p.R41fs 0.002:0.002 NULL pfam_NBPF_dom - no_errors NBPF20 HGNC ENSG00000203832 365 0 0.00 141 12 7.84 NEK3 0 genome.wustl.edu 37 13 52718962 52718962 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 13 52718962 52718962 G A SNP NEK3 ENST00000452082 human ensembl 74_37 -1 known missense c.731 p.P244L 0.999 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,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK3 HGNC ENSG00000136098 tier1 - - 59 0 0.00 41 6 12.50 NEXN 0 genome.wustl.edu 37 1 78395077 78395077 + Missense_Mutation SNP T T C TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 78395077 78395077 T C SNP NEXN ENST00000334785 human ensembl 74_37 +1 known missense c.941 p.F314S 1.000 NULL pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors NEXN HGNC ENSG00000162614 tier1 - - 29 0 0.00 43 14 24.56 NIPBL 0 genome.wustl.edu 37 5 36985957 36985957 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 36985957 36985957 G T SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.2675 p.S892I 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 42 0 0.00 49 3 5.77 NIT2 0 genome.wustl.edu 37 3 100074045 100074045 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 100074045 100074045 G T SNP NIT2 ENST00000394140 human ensembl 74_37 +1 known missense c.764 p.R255L 1.000 superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors NIT2 HGNC ENSG00000114021 tier1 - - 80 0 0.00 43 4 8.51 NOMO3 0 genome.wustl.edu 37 16 16349609 16349609 + Silent SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 16 16349609 16349609 C A SNP NOMO3 ENST00000399336 human ensembl 74_37 +1 known silent c.996 p.T332 0.387 superfamily_CarboxyPept-like_regulatory pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO3 HGNC ENSG00000103226 tier1 - - 73 0 0.00 31 4 11.43 NOTCH1 0 genome.wustl.edu 37 9 139391881 139391881 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 139391881 139391881 G T SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.6310 p.R2104S 1.000 superfamily_Ankyrin_rpt-contain_dom,pirsf_Notch,pfscan_Ankyrin_rpt-contain_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 - - 82 0 0.00 8 3 27.27 NOTCH1 0 genome.wustl.edu 37 9 139400133 139400133 + Frame_Shift_Del DEL G G - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 139400133 139400133 G - DEL NOTCH1 ENST00000277541 human ensembl 74_37 -1 known frame_shift_del c.4215 p.T1406fs 0.984 smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 178 0 0.00 18 2 10.00 NRD1 0 genome.wustl.edu 37 1 52306075 52306075 + Silent SNP T T C TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 52306075 52306075 T C SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known silent c.453 p.E151 0.094 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 tier1 rs78724482 - 15 0 0.00 13 4 23.53 NSFL1C 0 genome.wustl.edu 37 20 1424391 1424391 + RNA SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 20 1424391 1424391 C T SNP NSFL1C ENST00000461211 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NSFL1C HGNC ENSG00000088833 tier1 - - 34 0 0.00 11 6 35.29 NTM 0 genome.wustl.edu 37 11 132205821 132205821 + RNA SNP T T C TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 11 132205821 132205821 T C SNP NTM ENST00000474900 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NTM HGNC ENSG00000182667 tier1 - - 76 0 0.00 43 9 17.31 NUMB 0 genome.wustl.edu 37 14 73822341 73822341 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 14 73822341 73822341 G T SNP NUMB ENST00000355058 human ensembl 74_37 -1 known missense c.119 p.P40Q 1.000 pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMB HGNC ENSG00000133961 tier1 - - 76 0 0.00 43 4 8.51 OGFOD2 0 genome.wustl.edu 37 12 123461463 123461463 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 12 123461463 123461463 G T SNP OGFOD2 ENST00000228922 human ensembl 74_37 +1 known missense c.349 p.V117L 0.000 NULL smart_Pro_4_hyd_alph - no_errors OGFOD2 HGNC ENSG00000111325 tier1 - - 117 0 0.00 55 4 6.78 OR1N1 0 genome.wustl.edu 37 9 125289383 125289383 + Silent SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 125289383 125289383 G A SNP OR1N1 ENST00000304880 human ensembl 74_37 -1 known silent c.190 p.L64 0.973 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1N1 HGNC ENSG00000171505 tier1 - - 94 0 0.00 31 23 42.59 OR2T7 0 genome.wustl.edu 37 1 248604893 248604893 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 248604893 248604893 G A SNP OR2T7 ENST00000460972 human ensembl 74_37 +1 known missense c.386 p.R129H 0.000 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 OR2T7 HGNC ENSG00000227152 tier1 - - 120 0 0.00 57 11 16.18 OSBPL8 0 genome.wustl.edu 37 12 76783476 76783476 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 12 76783476 76783476 G T SNP OSBPL8 ENST00000261183 human ensembl 74_37 -1 known missense c.1301 p.S434Y 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL8 HGNC ENSG00000091039 tier1 - - 56 0 0.00 61 4 6.15 P4HA2 0 genome.wustl.edu 37 5 131545994 131545994 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 131545994 131545994 C T SNP P4HA2 ENST00000166534 human ensembl 74_37 -1 known missense c.692 p.R231H 1.000 pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA2 HGNC ENSG00000072682 tier1 rs200355999 - 70 0 0.00 27 4 12.90 PAAF1 0 genome.wustl.edu 37 11 73625472 73625472 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 11 73625472 73625472 G A SNP PAAF1 ENST00000310571 human ensembl 74_37 +1 known missense c.742 p.G248R 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAAF1 HGNC ENSG00000175575 tier1 - - 98 0 0.00 41 24 36.92 PBX1 0 genome.wustl.edu 37 1 164790798 164790798 + Missense_Mutation SNP A A G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 164790798 164790798 A G SNP PBX1 ENST00000420696 human ensembl 74_37 +1 known missense c.1135 p.S379G 1.000 NULL pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX1 HGNC ENSG00000185630 tier1 - - 72 0 0.00 22 20 47.62 PBX3 0 genome.wustl.edu 37 9 128728190 128728190 + Missense_Mutation SNP T T A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 128728190 128728190 T A SNP PBX3 ENST00000373489 human ensembl 74_37 +1 known missense c.1293 p.D431E 1.000 NULL pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX3 HGNC ENSG00000167081 tier1 - - 107 0 0.00 47 25 34.72 PCDH9 0 genome.wustl.edu 37 13 67801630 67801630 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 13 67801630 67801630 G T SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.943 p.Q315K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 74 0 0.00 50 11 18.03 PCDH9 0 genome.wustl.edu 37 13 67802221 67802221 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 13 67802221 67802221 G A SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.352 p.L118F 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 29 0 0.00 35 5 12.50 PCDHA4 0 genome.wustl.edu 37 5 140187432 140187432 + Silent SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 140187432 140187432 C T SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known silent c.660 p.P220 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 tier1 - - 86 0 0.00 26 15 36.59 PCDHAC1 0 genome.wustl.edu 37 5 140307146 140307146 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 140307146 140307146 G T SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known silent c.669 p.V223 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 tier1 - - 54 0 0.00 21 4 16.00 PCSK5 0 genome.wustl.edu 37 9 78686660 78686660 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 78686660 78686660 G T SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.740 p.G247V 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 46 0 0.00 33 2 5.71 PDE4B 0 genome.wustl.edu 37 1 66838008 66838008 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 66838008 66838008 G T SNP PDE4B ENST00000329654 human ensembl 74_37 +1 known missense c.1858 p.D620Y 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 54 0 0.00 28 2 6.67 PDZD2 0 genome.wustl.edu 37 5 32074051 32074051 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 32074051 32074051 G A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.2839 p.G947R 0.981 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 - - 59 0 0.00 13 17 56.67 PEX5L 0 genome.wustl.edu 37 3 179592121 179592121 + Silent SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 179592121 179592121 C T SNP PEX5L ENST00000467460 human ensembl 74_37 -1 known silent c.720 p.P240 0.739 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 tier1 - - 85 0 0.00 29 29 50.00 PFKP 0 genome.wustl.edu 37 10 3176766 3176766 + Frame_Shift_Del DEL G G - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 3176766 3176766 G - DEL PFKP ENST00000381125 human ensembl 74_37 +1 known frame_shift_del c.2114 p.G706fs 0.000 superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 tier1 42 0 0.00 25 2 7.41 PHF10 0 genome.wustl.edu 37 6 170114892 170114892 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 6 170114892 170114892 C A SNP PHF10 ENST00000339209 human ensembl 74_37 -1 known missense c.740 p.R247L 0.974 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF10 HGNC ENSG00000130024 tier1 - - 116 0 0.00 72 4 5.19 PHYH 0 genome.wustl.edu 37 10 13322988 13322988 + Silent SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 13322988 13322988 G A SNP PHYH ENST00000263038 human ensembl 74_37 -1 known silent c.951 p.S317 0.000 NULL pfam_Phytyl_CoA_dOase - no_errors PHYH HGNC ENSG00000107537 tier1 - - 80 0 0.00 67 6 8.11 PIP 0 genome.wustl.edu 37 7 142832372 142832372 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 7 142832372 142832372 G T SNP PIP ENST00000291009 human ensembl 74_37 +1 known nonsense c.181 p.E61* 0.000 pfam_SV_autoAg,pirsf_SV_autoAg pfam_SV_autoAg,pirsf_SV_autoAg - no_errors PIP HGNC ENSG00000159763 tier1 - - 61 0 0.00 64 4 5.88 PITPNC1 0 genome.wustl.edu 37 17 65628318 65628318 + Nonsense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 17 65628318 65628318 C A SNP PITPNC1 ENST00000335257 human ensembl 74_37 +1 known nonsense c.426 p.C142* 0.877 pfam_PI_transfer pfam_PI_transfer,prints_PI_transfer - no_errors PITPNC1 HGNC ENSG00000154217 67 0 0.00 37 2 5.13 PLCG2 0 genome.wustl.edu 37 16 81962194 81962194 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 16 81962194 81962194 G T SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known missense c.2546 p.C849F 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SH3_domain,smart_Pleckstrin_homology,pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 tier1 - - 80 0 0.00 28 4 12.50 PLCL1 0 genome.wustl.edu 37 2 198950712 198950712 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 198950712 198950712 G T SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.2471 p.R824L 1.000 superfamily_C2_dom,smart_C2_dom,prints_Pinositol_PLipase_C 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 78 0 0.00 68 4 5.56 PLEKHG4 0 genome.wustl.edu 37 16 67319366 67319366 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 16 67319366 67319366 G T SNP PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known missense c.2369 p.C790F 0.849 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 tier1 - - 86 0 0.00 13 3 17.65 PLIN3 0 genome.wustl.edu 37 19 4847712 4847712 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 4847712 4847712 G T SNP PLIN3 ENST00000221957 human ensembl 74_37 -1 known silent c.825 p.V275 0.088 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN3 HGNC ENSG00000105355 262 0 0.00 61 4 6.15 PNPLA6 0 genome.wustl.edu 37 19 7622101 7622101 + Missense_Mutation SNP C C G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 7622101 7622101 C G SNP PNPLA6 ENST00000414982 human ensembl 74_37 +1 known missense c.3358 p.L1120V 1.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 108 0 0.00 6 2 25.00 POP4 0 genome.wustl.edu 37 19 30101445 30101445 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 30101445 30101445 C T SNP POP4 ENST00000585603 human ensembl 74_37 +1 known missense c.190 p.H64Y 0.031 pirsf_RNase_P/MRP_p29-subunit pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit - no_errors POP4 HGNC ENSG00000105171 tier1 - - 161 0 0.00 29 6 17.14 PPP1R9B 0 genome.wustl.edu 37 17 48226983 48226983 + Missense_Mutation SNP T T A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 17 48226983 48226983 T A SNP PPP1R9B ENST00000316878 human ensembl 74_37 -1 known missense c.890 p.K297M 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PPP1R9B HGNC ENSG00000108819 tier1 - - 38 0 0.00 0 2 100.00 PPRC1 0 genome.wustl.edu 37 10 103908158 103908158 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 103908158 103908158 G T SNP PPRC1 ENST00000278070 human ensembl 74_37 +1 known missense c.4430 p.R1477L 0.997 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 61 0 0.00 34 3 8.11 PRAMEF11 0 genome.wustl.edu 37 1 12887175 12887175 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 12887175 12887175 G A SNP PRAMEF11 ENST00000535591 human ensembl 74_37 -1 known missense c.682 p.R228C 0.000 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 tier1 rs199614619 - 284 0 0.00 143 65 31.25 PREX1 0 genome.wustl.edu 37 20 47251238 47251238 + Nonsense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 20 47251238 47251238 G A SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known nonsense c.4243 p.Q1415* 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 tier1 - - 59 0 0.00 37 13 26.00 PRIMA1 0 genome.wustl.edu 37 14 94187869 94187869 + Frame_Shift_Del DEL T T - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 14 94187869 94187869 T - DEL PRIMA1 ENST00000393140 human ensembl 74_37 -1 known frame_shift_del c.383 p.N128fs 0.976 NULL NULL - no_errors PRIMA1 HGNC ENSG00000175785 tier1 66 0 0.00 24 3 11.11 PRKXP1 0 genome.wustl.edu 37 15 101088125 101088126 + RNA INS - - TT TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 15 101088125 101088126 - TT INS PRKXP1 ENST00000602585 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-526I2.5 Clone_based_vega_gene ENSG00000270127 tier1 26 0 0.00 28 3 9.68 PROSER1 0 genome.wustl.edu 37 13 39584326 39584326 + RNA SNP A A G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 13 39584326 39584326 A G SNP PROSER1 ENST00000484434 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PROSER1 HGNC ENSG00000120685 tier1 - - 31 0 0.00 45 26 36.62 PSPH 0 genome.wustl.edu 37 7 56088896 56088896 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 7 56088896 56088896 G T SNP PSPH ENST00000275605 human ensembl 74_37 -1 known missense c.10 p.H4N 1.000 tigrfam_SerB pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PSPH HGNC ENSG00000146733 tier1 - - 72 0 0.00 51 4 7.27 RABGAP1 0 genome.wustl.edu 37 9 125777872 125777872 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 125777872 125777872 G T SNP RABGAP1 ENST00000373647 human ensembl 74_37 +1 known missense c.1600 p.A534S 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 tier1 - - 46 0 0.00 93 5 5.10 RABGAP1 0 genome.wustl.edu 37 9 125827718 125827718 + Missense_Mutation SNP A A T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 125827718 125827718 A T SNP RABGAP1 ENST00000373647 human ensembl 74_37 +1 known missense c.1886 p.D629V 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 tier1 - - 74 0 0.00 47 20 29.85 RALGAPA1 0 genome.wustl.edu 37 14 36096989 36096989 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 14 36096989 36096989 G T SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known missense c.4787 p.P1596H 1.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 54 0 0.00 32 2 5.88 RECK 0 genome.wustl.edu 37 9 36085367 36085367 + RNA SNP G G C TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 36085367 36085367 G C SNP RECK ENST00000479053 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors RECK HGNC ENSG00000122707 tier1 - - 46 0 0.00 21 10 32.26 RGPD4 0 genome.wustl.edu 37 2 108488029 108488029 + Missense_Mutation SNP A A C TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 108488029 108488029 A C SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.3569 p.K1190T 0.986 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 tier1 - - 116 0 0.00 61 24 27.91 RMI1 0 genome.wustl.edu 37 9 86617475 86617475 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 86617475 86617475 G T SNP RMI1 ENST00000325875 human ensembl 74_37 +1 known missense c.1574 p.G525V 1.000 NULL pfam_DUF1767 - no_errors RMI1 HGNC ENSG00000178966 32 0 0.00 50 3 5.66 RNF220 0 genome.wustl.edu 37 1 45116421 45116421 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 45116421 45116421 G T SNP RNF220 ENST00000355387 human ensembl 74_37 +1 known nonsense c.1675 p.G559* 1.000 NULL superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 tier1 - - 30 0 0.00 15 3 16.67 RSRC2 0 genome.wustl.edu 37 12 122990142 122990142 + Nonsense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 12 122990142 122990142 G A SNP RSRC2 ENST00000331738 human ensembl 74_37 -1 known nonsense c.1237 p.Q413* 1.000 NULL NULL - no_errors RSRC2 HGNC ENSG00000111011 tier1 - - 53 0 0.00 41 20 32.26 RYR2 0 genome.wustl.edu 37 1 237947346 237947346 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 237947346 237947346 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.12352 p.D4118N 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 47 0 0.00 20 7 25.93 SAMD9L 0 genome.wustl.edu 37 7 92761642 92761642 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 7 92761642 92761642 G T SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.3643 p.P1215T 0.387 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 tier1 - - 55 0 0.00 46 16 25.81 SCP2D1 0 genome.wustl.edu 37 20 18794461 18794461 + Missense_Mutation SNP T T C TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 20 18794461 18794461 T C SNP SCP2D1 ENST00000377428 human ensembl 74_37 +1 known missense c.2 p.M1T 1.000 NULL pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom - no_errors SCP2D1 HGNC ENSG00000132631 tier1 - - 60 0 0.00 27 10 27.03 SEMA3G 0 genome.wustl.edu 37 3 52476595 52476595 + Nonsense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 52476595 52476595 G A SNP SEMA3G ENST00000231721 human ensembl 74_37 -1 known nonsense c.319 p.R107* 0.001 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3G HGNC ENSG00000010319 57 0 0.00 22 3 12.00 SERPINA12 0 genome.wustl.edu 37 14 94962837 94962837 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 14 94962837 94962837 G T SNP SERPINA12 ENST00000341228 human ensembl 74_37 -1 known missense c.778 p.L260M 0.994 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA12 HGNC ENSG00000165953 tier1 - - 124 0 0.00 67 4 5.63 SERPING1 0 genome.wustl.edu 37 11 57373868 57373868 + Missense_Mutation SNP C C G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 11 57373868 57373868 C G SNP SERPING1 ENST00000403558 human ensembl 74_37 +1 putative missense c.1006 p.L336V 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPING1 HGNC ENSG00000149131 tier1 - - 88 0 0.00 44 25 36.23 SETD2 0 genome.wustl.edu 37 3 47163875 47163875 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 47163875 47163875 G T SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known missense c.2251 p.P751T 0.983 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 58 0 0.00 64 4 5.88 SH3GL1 0 genome.wustl.edu 37 19 4363467 4363467 + Nonsense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 4363467 4363467 C A SNP SH3GL1 ENST00000269886 human ensembl 74_37 -1 known nonsense c.628 p.E210* 1.000 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC ENSG00000141985 tier1 - - 146 0 0.00 43 4 8.51 SH3GLB1 0 genome.wustl.edu 37 1 87181545 87181545 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 87181545 87181545 C A SNP SH3GLB1 ENST00000482504 human ensembl 74_37 +1 known missense c.211 p.P71T 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB1 HGNC ENSG00000097033 17 0 0.00 46 4 8.00 SIPA1L1 0 genome.wustl.edu 37 14 72117169 72117169 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 14 72117169 72117169 G T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known nonsense c.1936 p.G646* 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 63 0 0.00 36 2 5.26 SIRT1 0 genome.wustl.edu 37 10 69651212 69651212 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 69651212 69651212 C T SNP SIRT1 ENST00000212015 human ensembl 74_37 +1 known missense c.842 p.A281V 1.000 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC ENSG00000096717 39 0 0.00 47 4 7.69 SLC12A7 0 genome.wustl.edu 37 5 1064243 1064243 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 1064243 1064243 G T SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known missense c.2562 p.D854E 0.998 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 tier1 - - 89 0 0.00 0 2 100.00 SLC19A3 0 genome.wustl.edu 37 2 228552908 228552908 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 228552908 228552908 C A SNP SLC19A3 ENST00000258403 human ensembl 74_37 -1 known missense c.1288 p.G430W 1.000 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 tier1 - - 27 0 0.00 24 7 22.58 SLC22A7 0 genome.wustl.edu 37 6 43269984 43269984 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 6 43269984 43269984 G A SNP SLC22A7 ENST00000372585 human ensembl 74_37 +1 known missense c.1108 p.G370R 0.879 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A7 HGNC ENSG00000137204 tier1 - - 155 0 0.00 45 19 29.69 SLC25A43 0 genome.wustl.edu 37 X 118586029 118586029 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 X 118586029 118586029 G A SNP SLC25A43 ENST00000217909 human ensembl 74_37 +1 known missense c.748 p.V250M 0.032 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A43 HGNC ENSG00000077713 tier1 - - 62 0 0.00 32 4 11.11 SLC30A2 0 genome.wustl.edu 37 1 26366308 26366308 + Silent SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 26366308 26366308 C T SNP SLC30A2 ENST00000374276 human ensembl 74_37 -1 known silent c.933 p.L311 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A2 HGNC ENSG00000158014 tier1 - - 91 0 0.00 40 11 21.57 SLC30A5 0 genome.wustl.edu 37 5 68398888 68398888 + Splice_Site SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 68398888 68398888 G T SNP SLC30A5 ENST00000396591 human ensembl 74_37 +1 known splice_site c.207-1 e3-1 1.000 - - - no_errors SLC30A5 HGNC ENSG00000145740 47 0 0.00 52 4 7.14 SLC5A2 0 genome.wustl.edu 37 16 31500466 31500466 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 16 31500466 31500466 G T SNP SLC5A2 ENST00000330498 human ensembl 74_37 +1 known missense c.1472 p.G491V 0.931 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A2 HGNC ENSG00000140675 tier1 - - 114 0 0.00 10 3 23.08 SLIT3 0 genome.wustl.edu 37 5 168233482 168233482 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 168233482 168233482 G T SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.904 p.P302T 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 tier1 - - 104 0 0.00 32 4 11.11 SLITRK1 0 genome.wustl.edu 37 13 84454169 84454169 + Missense_Mutation SNP C C G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 13 84454169 84454169 C G SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1474 p.A492P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 tier1 - - 71 0 0.00 58 15 20.55 SLITRK1 0 genome.wustl.edu 37 13 84454948 84454948 + Missense_Mutation SNP T T C TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 13 84454948 84454948 T C SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.695 p.K232R 0.998 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 tier1 - - 66 0 0.00 49 19 27.94 SMAP1 0 genome.wustl.edu 37 6 71377799 71377799 + Silent SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 6 71377799 71377799 C T SNP SMAP1 ENST00000370455 human ensembl 74_37 +1 known silent c.73 p.L25 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 tier1 - - 138 0 0.00 23 12 34.29 SMC2 0 genome.wustl.edu 37 9 106878558 106878558 + Silent SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 106878558 106878558 C A SNP SMC2 ENST00000286398 human ensembl 74_37 +1 known silent c.1749 p.A583 0.997 pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 tier1 - - 63 0 0.00 84 5 5.62 SNRNP40 0 genome.wustl.edu 37 1 31766006 31766006 + RNA DEL A A - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 31766006 31766006 A - DEL SNRNP40 ENST00000463988 human ensembl 74_37 -1 known rna NULL NULL 0.422 - - - no_errors SNRNP40 HGNC ENSG00000060688 tier1 41 0 0.00 29 3 9.38 SORBS2 0 genome.wustl.edu 37 4 186598368 186598368 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 4 186598368 186598368 G T SNP SORBS2 ENST00000437304 human ensembl 74_37 -1 putative missense c.275 p.P92Q 0.017 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS2 HGNC ENSG00000154556 60 0 0.00 34 2 5.56 SPAG17 0 genome.wustl.edu 37 1 118642303 118642303 + Frame_Shift_Del DEL G G - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 118642303 118642303 G - DEL SPAG17 ENST00000336338 human ensembl 74_37 -1 known frame_shift_del c.755 p.S252fs 1.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 tier1 56 0 0.00 34 2 5.56 SPON1 0 genome.wustl.edu 37 11 14279344 14279344 + RNA SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 11 14279344 14279344 G T SNP SPON1 ENST00000310358 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPON1 HGNC ENSG00000152268 tier1 - - 120 0 0.00 59 4 6.35 SPTA1 0 genome.wustl.edu 37 1 158606544 158606544 + Missense_Mutation SNP A A T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 158606544 158606544 A T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.5197 p.L1733M 0.966 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 40 0 0.00 20 5 20.00 SSBP2 0 genome.wustl.edu 37 5 80715885 80715885 + RNA SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 80715885 80715885 G T SNP SSBP2 ENST00000510060 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SSBP2 HGNC ENSG00000145687 tier1 - - 53 0 0.00 64 4 5.88 ST6GAL2 0 genome.wustl.edu 37 2 107423166 107423166 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 107423166 107423166 G T SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known missense c.1558 p.P520T 1.000 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 50 0 0.00 29 2 6.45 STAM 0 genome.wustl.edu 37 10 17746459 17746459 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 17746459 17746459 G T SNP STAM ENST00000377524 human ensembl 74_37 +1 known silent c.942 p.L314 0.992 NULL pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM HGNC ENSG00000136738 tier1 - - 83 0 0.00 49 4 7.55 STAT4 0 genome.wustl.edu 37 2 191897819 191897819 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 191897819 191897819 G T SNP STAT4 ENST00000358470 human ensembl 74_37 -1 known missense c.1909 p.P637T 1.000 pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 105 0 0.00 75 4 5.06 SYNE2 0 genome.wustl.edu 37 14 64596818 64596818 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 14 64596818 64596818 G T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.14192 p.S4731I 0.599 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 65 0 0.00 27 4 12.90 TBC1D9B 0 genome.wustl.edu 37 5 179291077 179291077 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 179291077 179291077 G A SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known missense c.3124 p.P1042S 0.998 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 57 0 0.00 20 3 13.04 TBX19 0 genome.wustl.edu 37 1 168260525 168260525 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 168260525 168260525 G T SNP TBX19 ENST00000367821 human ensembl 74_37 +1 known missense c.331 p.A111S 0.998 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX19 HGNC ENSG00000143178 tier1 - - 107 0 0.00 50 4 7.41 TCF25 0 genome.wustl.edu 37 16 89965019 89965019 + Frame_Shift_Del DEL C C - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 16 89965019 89965019 C - DEL TCF25 ENST00000263346 human ensembl 74_37 +1 known frame_shift_del c.1077 p.P360fs 0.994 pfam_TCF25 pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 tier1 27 0 0.00 7 2 22.22 TCOF1 0 genome.wustl.edu 37 5 149758557 149758557 + Frame_Shift_Del DEL A A - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 149758557 149758557 A - DEL TCOF1 ENST00000451292 human ensembl 74_37 +1 known frame_shift_del c.2430 p.V812fs 0.596 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 tier1 122 0 0.00 37 2 5.13 TDRD15 0 genome.wustl.edu 37 2 21363385 21363385 + Missense_Mutation SNP A A G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 21363385 21363385 A G SNP TDRD15 ENST00000405799 human ensembl 74_37 +1 novel missense c.3046 p.R1016G 0.064 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors TDRD15 HGNC ENSG00000218819 tier1 - - 14 0 0.00 28 6 17.65 TECRL 0 genome.wustl.edu 37 4 65274862 65274862 + Missense_Mutation SNP T T A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 4 65274862 65274862 T A SNP TECRL ENST00000381210 human ensembl 74_37 -1 known missense c.208 p.R70W 0.826 NULL pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 tier1 - - 36 0 0.00 88 13 12.87 TES 0 genome.wustl.edu 37 7 115892525 115892525 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 7 115892525 115892525 G T SNP TES ENST00000358204 human ensembl 74_37 +1 known missense c.1072 p.A358S 1.000 pfscan_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TES HGNC ENSG00000135269 tier1 - - 98 0 0.00 65 4 5.80 TEX14 0 genome.wustl.edu 37 17 56634377 56634377 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 17 56634377 56634377 C A SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known missense c.4489 p.D1497Y 1.000 NULL 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 - no_errors TEX14 HGNC ENSG00000121101 tier1 - - 95 0 0.00 59 4 6.35 TGFBRAP1 0 genome.wustl.edu 37 2 105924689 105924689 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 105924689 105924689 G T SNP TGFBRAP1 ENST00000258449 human ensembl 74_37 -1 known missense c.70 p.R24S 0.039 NULL pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron - no_errors TGFBRAP1 HGNC ENSG00000135966 26 0 0.00 10 2 16.67 THSD1 0 genome.wustl.edu 37 13 52972299 52972299 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 13 52972299 52972299 C A SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.89 p.R30I 0.670 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 tier1 - - 50 0 0.00 24 3 11.11 TIAL1 0 genome.wustl.edu 37 10 121336675 121336675 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 121336675 121336675 C T SNP TIAL1 ENST00000369093 human ensembl 74_37 -1 known missense c.829 p.V277M 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIAL1 HGNC ENSG00000151923 tier1 - - 31 0 0.00 26 8 23.53 TIMM44 0 genome.wustl.edu 37 19 7998370 7998370 + Silent SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 7998370 7998370 G T SNP TIMM44 ENST00000270538 human ensembl 74_37 -1 known silent c.769 p.R257 1.000 pirsf_Tim44,tigrfam_Tim44 pfam_Tim44-like_dom,smart_Tim44-like_dom,pirsf_Tim44,tigrfam_Tim44 - no_errors TIMM44 HGNC ENSG00000104980 tier1 - - 119 0 0.00 31 4 11.43 TLE3 0 genome.wustl.edu 37 15 70343732 70343732 + Nonsense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 15 70343732 70343732 G A SNP TLE3 ENST00000558939 human ensembl 74_37 -1 known nonsense c.2209 p.Q737* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE3 HGNC ENSG00000140332 tier1 - - 69 0 0.00 18 11 37.93 TLE4 0 genome.wustl.edu 37 9 82336678 82336678 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 82336678 82336678 G T SNP TLE4 ENST00000376520 human ensembl 74_37 +1 known nonsense c.1957 p.G653* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 86 0 0.00 47 3 6.00 TM9SF2 0 genome.wustl.edu 37 13 100153989 100153989 + Silent SNP C C G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 13 100153989 100153989 C G SNP TM9SF2 ENST00000376387 human ensembl 74_37 +1 known silent c.129 p.P43 0.986 NULL pfam_EMP70 - no_errors TM9SF2 HGNC ENSG00000125304 tier1 - - 68 0 0.00 30 6 16.67 TMEM256-PLSCR3 0 genome.wustl.edu 37 17 7296934 7296934 + Nonsense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 17 7296934 7296934 C A SNP TMEM256-PLSCR3 ENST00000324822 human ensembl 74_37 -1 known nonsense c.229 p.E77* 0.984 pfam_Scramblase pfam_Scramblase,superfamily_Tubby_C-like - no_errors TMEM256-PLSCR3 HGNC ENSG00000187838 98 0 0.00 19 2 9.09 TMEM26 0 genome.wustl.edu 37 10 63170318 63170318 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 63170318 63170318 G A SNP TMEM26 ENST00000399298 human ensembl 74_37 -1 known missense c.869 p.A290V 1.000 pfam_Transmembrane_26 pfam_Transmembrane_26 - no_errors TMEM26 HGNC ENSG00000196932 tier1 - - 106 0 0.00 71 4 5.33 TP53 0 genome.wustl.edu 37 17 7577570 7577570 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 17 7577570 7577570 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.711 p.M237I 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 - - 64 0 0.00 14 22 61.11 TPO 0 genome.wustl.edu 37 2 1488582 1488582 + Nonsense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 1488582 1488582 G A SNP TPO ENST00000329066 human ensembl 74_37 +1 known nonsense c.1553 p.W518* 0.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 tier1 - - 131 0 0.00 51 4 7.27 TPRXL 0 genome.wustl.edu 37 3 14105885 14105885 + Frame_Shift_Del DEL G G - TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 14105885 14105885 G - DEL TPRXL ENST00000326972 human ensembl 74_37 +1 known frame_shift_del c.209 p.S70fs 0.947 NULL NULL - no_errors TPRXL HGNC ENSG00000180438 tier1 53 0 0.00 5 2 28.57 TPTEP1 0 genome.wustl.edu 37 22 17131536 17131537 + RNA INS - - CTG TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 22 17131536 17131537 0 CTG INS TPTEP1 ENST00000426585 human ensembl 74_37 +1 known rna NULL NULL 0.999:0.999 - - - no_errors TPTEP1 HGNC ENSG00000100181 22 0 0.00 3 3 50.00 TRIM10 0 genome.wustl.edu 37 6 30122004 30122004 + Silent SNP C C G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 6 30122004 30122004 C G SNP TRIM10 ENST00000449742 human ensembl 74_37 -1 known silent c.1188 p.L396 0.161 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM10 HGNC ENSG00000204613 30 0 0.00 3 2 40.00 TRO 0 genome.wustl.edu 37 X 54957319 54957319 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 X 54957319 54957319 G T SNP TRO ENST00000173898 human ensembl 74_37 +1 known missense c.4162 p.G1388C 0.221 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 tier1 - - 40 0 0.00 25 4 13.79 TRPA1 0 genome.wustl.edu 37 8 72948523 72948523 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 8 72948523 72948523 C A SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.2555 p.R852I 1.000 pfam_Ion_trans_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 79 0 0.00 62 4 6.06 TRPS1 0 genome.wustl.edu 37 8 116599311 116599311 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 8 116599311 116599311 C T SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.2617 p.G873R 0.992 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 59 0 0.00 37 2 5.13 TTLL10 0 genome.wustl.edu 37 1 1119336 1119336 + Silent SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 1119336 1119336 G A SNP TTLL10 ENST00000379289 human ensembl 74_37 +1 known silent c.1125 p.K375 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL10 HGNC ENSG00000162571 tier1 - - 82 0 0.00 31 15 32.61 TTN 0 genome.wustl.edu 37 2 179640730 179640730 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 179640730 179640730 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.5861 p.P1954Q 1.000 superfamily_RNaseH-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 54 0 0.00 41 4 8.89 UAP1 0 genome.wustl.edu 37 1 162569093 162569093 + Missense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 162569093 162569093 C A SNP UAP1 ENST00000271469 human ensembl 74_37 +1 known missense c.1509 p.F503L 1.000 NULL pfam_UDPGP_trans - no_errors UAP1 HGNC ENSG00000117143 44 0 0.00 37 2 5.13 UBE2U 0 genome.wustl.edu 37 1 64680571 64680571 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 64680571 64680571 C T SNP UBE2U ENST00000371076 human ensembl 74_37 +1 known missense c.413 p.S138F 0.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2U HGNC ENSG00000177414 tier1 - - 45 0 0.00 62 4 6.06 UGT1A8 0 genome.wustl.edu 37 2 234669545 234669545 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 2 234669545 234669545 G T SNP UGT1A8 ENST00000305208 human ensembl 74_37 +1 known missense c.612 p.M204I 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A8 HGNC ENSG00000242366 tier1 - - 86 0 0.00 45 4 8.16 UNCX 0 genome.wustl.edu 37 7 1273298 1273298 + Silent SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 7 1273298 1273298 G A SNP UNCX ENST00000316333 human ensembl 74_37 +1 known silent c.417 p.A139 0.998 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors UNCX HGNC ENSG00000164853 tier1 - - 180 0 0.00 15 16 51.61 UNKL 0 genome.wustl.edu 37 16 1419982 1419982 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 16 1419982 1419982 G T SNP UNKL ENST00000248104 human ensembl 74_37 -1 known missense c.26 p.P9Q 0.030 NULL pfscan_Znf_RING - no_errors UNKL HGNC ENSG00000059145 tier1 - - 84 0 0.00 15 3 16.67 VAV1 0 genome.wustl.edu 37 19 6829897 6829897 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 6829897 6829897 G T SNP VAV1 ENST00000602142 human ensembl 74_37 +1 known missense c.1366 p.D456Y 0.998 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 tier1 - - 67 0 0.00 25 6 19.35 VCAN 0 genome.wustl.edu 37 5 82834534 82834534 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 5 82834534 82834534 G T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.5712 p.R1904S 0.005 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 72 0 0.00 75 4 5.06 VCP 0 genome.wustl.edu 37 9 35059171 35059171 + Nonsense_Mutation SNP C C A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 9 35059171 35059171 C A SNP VCP ENST00000358901 human ensembl 74_37 -1 known nonsense c.2050 p.G684* 1.000 superfamily_P-loop_NTPase,tigrfam_AAA_ATPase_CDC48 pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 - no_errors VCP HGNC ENSG00000165280 tier1 - - 152 0 0.00 59 4 6.35 VENTX 0 genome.wustl.edu 37 10 135053543 135053543 + Silent SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 135053543 135053543 C T SNP VENTX ENST00000325980 human ensembl 74_37 +1 known silent c.510 p.Y170 0.003 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors VENTX HGNC ENSG00000151650 tier1 - - 138 0 0.00 33 29 46.77 VIPAS39 0 genome.wustl.edu 37 14 77917611 77917611 + Missense_Mutation SNP G G C TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 14 77917611 77917611 G C SNP VIPAS39 ENST00000343765 human ensembl 74_37 -1 known missense c.262 p.L88V 0.894 pfam_Golgin_subfamily_A_member_5 pfam_Golgin_subfamily_A_member_5 - no_errors VIPAS39 HGNC ENSG00000151445 tier1 - - 143 0 0.00 45 16 26.23 VPS26A 0 genome.wustl.edu 37 10 70931013 70931013 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 70931013 70931013 G T SNP VPS26A ENST00000263559 human ensembl 74_37 +1 known missense c.972 p.Q324H 1.000 NULL pfam_VPS26 - no_errors VPS26A HGNC ENSG00000122958 107 0 0.00 71 4 5.33 VPS28 0 genome.wustl.edu 37 8 145649383 145649383 + Missense_Mutation SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 8 145649383 145649383 C T SNP VPS28 ENST00000377348 human ensembl 74_37 -1 known missense c.589 p.E197K 0.000 pirsf_VPS28 pfam_VPS28,pirsf_VPS28 - no_errors VPS28 HGNC ENSG00000160948 tier1 - - 61 0 0.00 0 2 100.00 VPS37A 0 genome.wustl.edu 37 8 17132397 17132397 + Missense_Mutation SNP C C G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 8 17132397 17132397 C G SNP VPS37A ENST00000324849 human ensembl 74_37 +1 known missense c.572 p.P191R 0.972 NULL pfam_Mod_r,superfamily_UBQ-conjugating_enzyme/RWD - no_errors VPS37A HGNC ENSG00000155975 tier1 - - 51 0 0.00 13 33 71.74 WHAMM 0 genome.wustl.edu 37 15 83499796 83499796 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 15 83499796 83499796 G A SNP WHAMM ENST00000286760 human ensembl 74_37 +1 known missense c.2087 p.R696Q 0.001 NULL superfamily_tRNA-bd_arm,pfscan_WH2_dom - no_errors WHAMM HGNC ENSG00000156232 tier1 - - 34 0 0.00 16 8 33.33 XYLB 0 genome.wustl.edu 37 3 38437043 38437043 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 38437043 38437043 G T SNP XYLB ENST00000207870 human ensembl 74_37 +1 known nonsense c.1339 p.E447* 1.000 pfam_Carb_kinase_FGGY_C pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N - no_errors XYLB HGNC ENSG00000093217 tier1 - - 61 0 0.00 46 4 8.00 ZAN 0 genome.wustl.edu 37 7 100355875 100355875 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 7 100355875 100355875 G T SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.3360 p.W1120C 0.000 smart_VWC_out pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 107 0 0.00 70 4 5.33 ZBTB24 0 genome.wustl.edu 37 6 109796645 109796645 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 6 109796645 109796645 G T SNP ZBTB24 ENST00000230122 human ensembl 74_37 -1 known missense c.1245 p.F415L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB24 HGNC ENSG00000112365 63 0 0.00 32 2 5.88 ZC3H18 0 genome.wustl.edu 37 16 88643781 88643781 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 16 88643781 88643781 G A SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known missense c.250 p.E84K 1.000 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 tier1 - - 65 0 0.00 17 13 43.33 ZDHHC23 0 genome.wustl.edu 37 3 113677442 113677442 + RNA SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 3 113677442 113677442 C T SNP ZDHHC23 ENST00000488129 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ZDHHC23 HGNC ENSG00000184307 tier1 - - 47 0 0.00 5 13 72.22 ZNF24 0 genome.wustl.edu 37 18 32917382 32917382 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 18 32917382 32917382 G T SNP ZNF24 ENST00000261332 human ensembl 74_37 -1 known nonsense c.921 p.Y307* 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF24 HGNC ENSG00000172466 tier1 - - 66 0 0.00 56 4 6.67 ZNF275 0 genome.wustl.edu 37 X 152612275 152612275 + Splice_Site SNP A A C TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 X 152612275 152612275 A C SNP ZNF275 ENST00000440091 human ensembl 74_37 +1 known splice_site c.224-2 e4-2 0.922 - - - no_errors ZNF275 HGNC ENSG00000063587 tier1 - - 76 0 0.00 50 7 12.28 ZNF277 0 genome.wustl.edu 37 7 111970249 111970249 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 7 111970249 111970249 G T SNP ZNF277 ENST00000361822 human ensembl 74_37 +1 known missense c.779 p.R260I 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF277 HGNC ENSG00000198839 tier1 - - 28 0 0.00 65 4 5.80 ZNF511 0 genome.wustl.edu 37 10 135165521 135165521 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 10 135165521 135165521 G T SNP ZNF511 ENST00000368554 human ensembl 74_37 +1 known missense c.616 p.A206S 0.000 NULL smart_Znf_C2H2-like - no_errors ZNF511 HGNC ENSG00000198546 188 0 0.00 56 3 5.08 ZNF574 0 genome.wustl.edu 37 19 42583430 42583430 + Silent SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 42583430 42583430 G A SNP ZNF574 ENST00000222339 human ensembl 74_37 +1 known silent c.942 p.Q314 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 tier1 - - 115 0 0.00 60 4 6.25 ZNF587B 0 genome.wustl.edu 37 19 58353505 58353505 + Missense_Mutation SNP A A G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 58353505 58353505 A G SNP ZNF587B ENST00000594901 human ensembl 74_37 +1 novel missense c.1463 p.H488R 0.980 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 ZNF587B HGNC ENSG00000269343 tier1 - - 101 0 0.00 57 11 16.18 ZNF646 0 genome.wustl.edu 37 16 31090229 31090229 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 16 31090229 31090229 G A SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.2584 p.A862T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 tier1 - - 50 0 0.00 29 4 12.12 ZNF687 0 genome.wustl.edu 37 1 151261077 151261077 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 1 151261077 151261077 G A SNP ZNF687 ENST00000324048 human ensembl 74_37 +1 known missense c.2189 p.R730Q 0.842 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 tier1 - - 103 0 0.00 36 18 33.33 ZNF699 0 genome.wustl.edu 37 19 9406193 9406193 + Nonsense_Mutation SNP G G C TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 9406193 9406193 G C SNP ZNF699 ENST00000308650 human ensembl 74_37 -1 known nonsense c.1887 p.Y629* 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 ZNF699 HGNC ENSG00000196110 tier1 - - 55 0 0.00 29 23 44.23 ZNF804B 0 genome.wustl.edu 37 7 88847482 88847482 + Missense_Mutation SNP A A C TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 7 88847482 88847482 A C SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.122 p.K41T 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 61 0 0.00 56 29 34.12 ZNF814 0 genome.wustl.edu 37 19 58361380 58361380 + RNA SNP C C T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 58361380 58361380 C T SNP ZNF814 ENST00000597652 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ZNF814 HGNC ENSG00000204514 tier1 - - 173 0 0.00 23 5 17.86 ZNF829 0 genome.wustl.edu 37 19 37382431 37382431 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 37382431 37382431 G T SNP ZNF829 ENST00000520965 human ensembl 74_37 -1 known missense c.1505 p.S502Y 0.552 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF829 HGNC ENSG00000185869 tier1 - - 61 0 0.00 60 4 6.25 ZNF99 0 genome.wustl.edu 37 19 22940313 22940313 + Missense_Mutation SNP T T G TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d9b507c0-00e5-440e-a987-b77be148c1a6 4a6de380-0322-4441-8de9-87e447b213f4 19 22940313 22940313 T G SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.2125 p.N709H 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 27 0 0.00 45 4 8.16