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 A4GNT 0 genome.wustl.edu 37 3 137850070 137850070 + Nonsense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 137850070 137850070 G C SNP A4GNT ENST00000236709 human ensembl 74_37 -1 known nonsense c.29 p.S10* 0.012 NULL pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS - no_errors A4GNT HGNC ENSG00000118017 tier1 - - 32 0 0.00 37 6 13.95 AARD 0 genome.wustl.edu 37 8 117950617 117950617 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 8 117950617 117950617 C G SNP AARD ENST00000378279 human ensembl 74_37 +1 known missense c.135 p.I45M 0.000 NULL NULL - no_errors AARD HGNC ENSG00000205002 tier1 - - 54 0 0.00 58 6 9.38 ABCA1 0 genome.wustl.edu 37 9 107579672 107579672 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 107579672 107579672 G C SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.3476 p.S1159C 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 tier1 - - 17 0 0.00 14 5 26.32 ABCC4 0 genome.wustl.edu 37 13 95858835 95858835 + Nonsense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 13 95858835 95858835 G C SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known nonsense c.1112 p.S371* 0.058 superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 tier1 - - 28 0 0.00 23 5 17.86 ACAD10 0 genome.wustl.edu 37 12 112143731 112143731 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 112143731 112143731 G C SNP ACAD10 ENST00000455480 human ensembl 74_37 +1 known missense c.526 p.D176H 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors ACAD10 HGNC ENSG00000111271 tier1 - - 50 0 0.00 31 34 52.31 ACSL4 0 genome.wustl.edu 37 X 108911423 108911423 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 X 108911423 108911423 G C SNP ACSL4 ENST00000340800 human ensembl 74_37 -1 known missense c.1345 p.Q449E 0.988 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ENSG00000068366 tier1 - - 26 0 0.00 23 20 46.51 ACVR1B 0 genome.wustl.edu 37 12 52380666 52380666 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 52380666 52380666 G A SNP ACVR1B ENST00000257963 human ensembl 74_37 +1 known missense c.1201 p.A401T 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_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1B HGNC ENSG00000135503 tier1 - - 38 0 0.00 41 7 14.58 ADAM23 0 genome.wustl.edu 37 2 207346014 207346014 + Missense_Mutation SNP T T C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 207346014 207346014 T C SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known missense c.491 p.L164P 1.000 pfam_Peptidase_M12B_N 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_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 tier1 rs111649087 - 44 0 0.00 34 17 33.33 ADAMTSL4 0 genome.wustl.edu 37 1 150528034 150528034 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 150528034 150528034 G A SNP ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known missense c.1433 p.R478H 0.993 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 14 0 0.00 14 2 12.50 ADCK4 0 genome.wustl.edu 37 19 41206253 41206253 + Missense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 41206253 41206253 C A SNP ADCK4 ENST00000324464 human ensembl 74_37 -1 known missense c.997 p.D333Y 1.000 superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK4 HGNC ENSG00000123815 27 0 0.00 22 3 12.00 AGR3 0 genome.wustl.edu 37 7 16901016 16901016 + Missense_Mutation SNP A A C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 16901016 16901016 A C SNP AGR3 ENST00000310398 human ensembl 74_37 -1 known missense c.359 p.M120R 1.000 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors AGR3 HGNC ENSG00000173467 tier1 - - 69 0 0.00 57 17 22.97 AHCTF1 0 genome.wustl.edu 37 1 247076622 247076622 + Silent SNP T T C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 247076622 247076622 T C SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known silent c.495 p.A165 0.997 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 tier1 - - 61 0 0.00 56 30 34.88 AHNAK 0 genome.wustl.edu 37 11 62297376 62297376 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 62297376 62297376 C G SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.4513 p.D1505H 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 70 0 0.00 91 12 11.65 AHNAK 0 genome.wustl.edu 37 11 62298039 62298039 + Missense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 62298039 62298039 C A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.3850 p.D1284Y 0.599 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 89 0 0.00 95 18 15.93 AHNAK 0 genome.wustl.edu 37 11 62298750 62298750 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 62298750 62298750 C G SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.3139 p.E1047Q 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 65 0 0.00 63 10 13.70 AKAP9 0 genome.wustl.edu 37 7 91630582 91630582 + Nonsense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 91630582 91630582 G T SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known nonsense c.1387 p.E463* 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 tier1 - - 64 0 0.00 34 12 26.09 AKAP9 0 genome.wustl.edu 37 7 91631497 91631497 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 91631497 91631497 G C SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.2302 p.E768Q 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 tier1 - - 185 0 0.00 174 65 27.08 AMZ2 0 genome.wustl.edu 37 17 66250605 66250605 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 66250605 66250605 G T SNP AMZ2 ENST00000359904 human ensembl 74_37 +1 known missense c.647 p.G216V 1.000 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ2 HGNC ENSG00000196704 tier1 - - 66 0 0.00 32 4 11.11 ANAPC13 0 genome.wustl.edu 37 3 134201686 134201686 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 134201686 134201686 C G SNP ANAPC13 ENST00000354910 human ensembl 74_37 -1 known missense c.61 p.E21Q 1.000 pfam_Apc13p pfam_Apc13p - no_errors ANAPC13 HGNC ENSG00000129055 tier1 - - 56 0 0.00 37 9 19.57 ANAPC2 0 genome.wustl.edu 37 9 140082363 140082363 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 140082363 140082363 C G SNP ANAPC2 ENST00000323927 human ensembl 74_37 -1 known missense c.310 p.E104Q 0.998 NULL pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology - no_errors ANAPC2 HGNC ENSG00000176248 tier1 - - 17 0 0.00 16 5 23.81 ANGPTL3 0 genome.wustl.edu 37 1 63068045 63068045 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 63068045 63068045 C G SNP ANGPTL3 ENST00000371129 human ensembl 74_37 +1 known missense c.925 p.L309V 0.997 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL3 HGNC ENSG00000132855 tier1 - - 67 0 0.00 62 14 18.42 ANKRD29 0 genome.wustl.edu 37 18 21218851 21218851 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 18 21218851 21218851 G C SNP ANKRD29 ENST00000592179 human ensembl 74_37 -1 known missense c.292 p.L98V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD29 HGNC ENSG00000154065 tier1 - - 64 0 0.00 65 12 15.38 ANKS1B 0 genome.wustl.edu 37 12 99447069 99447069 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 99447069 99447069 C T SNP ANKS1B ENST00000329257 human ensembl 74_37 -1 known missense c.2644 p.D882N 1.000 superfamily_SAM/pointed,smart_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 tier1 - - 59 0 0.00 56 11 16.42 ANO2 0 genome.wustl.edu 37 12 5672624 5672624 + Silent SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 5672624 5672624 C G SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known silent c.2841 p.L947 1.000 NULL pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 tier1 - - 14 0 0.00 14 17 54.84 AOX2P 0 genome.wustl.edu 37 2 201619757 201619758 + RNA INS - - TG TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 201619757 201619758 - TG INS AOX2P ENST00000472376 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors AOX2P HGNC ENSG00000243478 tier1 19 0 0.00 26 6 18.75 APPBP2 0 genome.wustl.edu 37 17 58571889 58571889 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 58571889 58571889 G C SNP APPBP2 ENST00000083182 human ensembl 74_37 -1 known missense c.317 p.S106C 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors APPBP2 HGNC ENSG00000062725 tier1 - - 51 0 0.00 37 7 15.91 AR 0 genome.wustl.edu 37 X 66766356 66766356 + Silent SNP T T C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 X 66766356 66766356 T C SNP AR ENST00000374690 human ensembl 74_37 +1 known silent c.1368 p.G456 0.027 NULL pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 12 0 0.00 3 2 40.00 ARHGEF17 0 genome.wustl.edu 37 11 73076558 73076558 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 73076558 73076558 G C SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.5674 p.E1892Q 1.000 superfamily_WD40_repeat_dom pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 tier1 - - 19 0 0.00 10 10 50.00 ARID5B 0 genome.wustl.edu 37 10 63852198 63852198 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 10 63852198 63852198 G C SNP ARID5B ENST00000279873 human ensembl 74_37 +1 known missense c.2976 p.M992I 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 tier1 - - 31 0 0.00 25 5 16.67 ARSEP1 0 genome.wustl.edu 37 Y 14468196 14468196 + RNA SNP A A G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 Y 14468196 14468196 A G SNP ARSEP1 ENST00000430152 human ensembl 74_37 +1 known rna NULL NULL 0.663 - - - no_errors ARSEP1 HGNC ENSG00000224060 tier1 - - 17 0 0.00 7 6 46.15 ASPA 0 genome.wustl.edu 37 17 3385000 3385000 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 3385000 3385000 G C SNP ASPA ENST00000263080 human ensembl 74_37 +1 known missense c.340 p.D114H 1.000 pfam_Aste_AspA,pirsf_Aspartoacylase pfam_Aste_AspA,pirsf_Aspartoacylase - no_errors ASPA HGNC ENSG00000108381 tier1 - - 79 0 0.00 68 18 20.93 ASPH 0 genome.wustl.edu 37 8 62559369 62559369 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 8 62559369 62559369 G C SNP ASPH ENST00000379454 human ensembl 74_37 -1 known missense c.559 p.L187V 0.002 pfam_Asp-B-hydro/Triadin_dom pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 tier1 - - 60 0 0.00 58 14 19.44 ASTN1 0 genome.wustl.edu 37 1 177000021 177000021 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 177000021 177000021 C T SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known silent c.933 p.V311 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 52 0 0.00 43 13 23.21 ATM 0 genome.wustl.edu 37 11 108186589 108186589 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 108186589 108186589 G C SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.6046 p.D2016H 1.000 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 tier1 - - 51 0 0.00 52 25 32.47 ATP2B1 0 genome.wustl.edu 37 12 90003718 90003718 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 90003718 90003718 G C SNP ATP2B1 ENST00000261173 human ensembl 74_37 -1 known missense c.2438 p.A813G 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 tier1 - - 59 0 0.00 35 12 25.53 B3GAT1 0 genome.wustl.edu 37 11 134252719 134252719 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 134252719 134252719 C T SNP B3GAT1 ENST00000537389 human ensembl 74_37 -1 known missense c.842 p.R281Q 0.997 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 tier1 - - 42 0 0.00 27 7 20.59 BAG6 0 genome.wustl.edu 37 6 31615559 31615559 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 31615559 31615559 C T SNP BAG6 ENST00000404765 human ensembl 74_37 -1 known silent c.597 p.Q199 0.204 NULL pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC ENSG00000204463 tier1 - - 128 0 0.00 63 33 34.38 BAI2 0 genome.wustl.edu 37 1 32222191 32222191 + Missense_Mutation SNP A A C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 32222191 32222191 A C SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known missense c.247 p.F83V 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 tier1 - - 62 0 0.00 58 18 23.68 BAI3 0 genome.wustl.edu 37 6 70082325 70082325 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 70082325 70082325 G C SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.4267 p.D1423H 1.000 prints_GPCR_2_brain-spec_angio_inhib pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 52 0 0.00 42 23 35.38 BCHE 0 genome.wustl.edu 37 3 165548470 165548470 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 165548470 165548470 C T SNP BCHE ENST00000264381 human ensembl 74_37 -1 known missense c.352 p.E118K 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 tier1 - - 58 0 0.00 45 26 36.62 BCLAF1 0 genome.wustl.edu 37 6 136599709 136599709 + Missense_Mutation SNP T T A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 136599709 136599709 T A SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.310 p.S104C 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 tier1 - - 73 0 0.00 120 8 6.25 BDP1 0 genome.wustl.edu 37 5 70840330 70840330 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 70840330 70840330 G A SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.6559 p.E2187K 0.008 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 tier1 - - 59 0 0.00 54 17 23.94 BEND5 0 genome.wustl.edu 37 1 49227056 49227056 + Nonsense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 49227056 49227056 C A SNP BEND5 ENST00000371833 human ensembl 74_37 -1 known nonsense c.313 p.E105* 1.000 NULL pfam_BEN_domain - no_errors BEND5 HGNC ENSG00000162373 tier1 - - 110 0 0.00 60 11 15.49 BICD2 0 genome.wustl.edu 37 9 95526873 95526873 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 95526873 95526873 C G SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known missense c.154 p.E52Q 1.000 NULL pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 tier1 - - 46 0 0.00 43 14 23.73 BRD4 0 genome.wustl.edu 37 19 15366974 15366974 + Missense_Mutation SNP T T C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 15366974 15366974 T C SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known missense c.1652 p.H551R 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 tier1 - - 53 0 0.00 30 10 25.00 BST1 0 genome.wustl.edu 37 4 15707200 15707200 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 4 15707200 15707200 C T SNP BST1 ENST00000265016 human ensembl 74_37 +1 known missense c.251 p.S84F 0.029 pfam_ADP-ribosyl_cyclase pfam_ADP-ribosyl_cyclase - no_errors BST1 HGNC ENSG00000109743 tier1 - - 33 0 0.00 36 5 12.20 BSX 0 genome.wustl.edu 37 11 122852178 122852178 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 122852178 122852178 G C SNP BSX ENST00000343035 human ensembl 74_37 -1 known missense c.202 p.H68D 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BSX HGNC ENSG00000188909 tier1 - - 15 0 0.00 20 5 20.00 BTAF1 0 genome.wustl.edu 37 10 93768818 93768818 + Nonsense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 10 93768818 93768818 C G SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known nonsense c.3956 p.S1319* 1.000 pfam_SNF2_N,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 tier1 - - 90 0 0.00 102 13 11.30 C10orf88 0 genome.wustl.edu 37 10 124697221 124697221 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 10 124697221 124697221 C G SNP C10orf88 ENST00000481909 human ensembl 74_37 -1 known missense c.1103 p.G368A 0.246 NULL NULL - no_errors C10orf88 HGNC ENSG00000119965 tier1 - - 35 0 0.00 38 8 17.39 C11orf80 0 genome.wustl.edu 37 11 66555679 66555679 + Nonsense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 66555679 66555679 C G SNP C11orf80 ENST00000360962 human ensembl 74_37 +1 known nonsense c.572 p.S191* 0.659 NULL NULL - no_errors C11orf80 HGNC ENSG00000173715 tier1 - - 78 0 0.00 71 16 18.39 C11orf85 0 genome.wustl.edu 37 11 64707168 64707168 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 64707168 64707168 C G SNP C11orf85 ENST00000301896 human ensembl 74_37 -1 known missense c.618 p.R206S 0.013 NULL NULL - no_errors C11orf85 HGNC ENSG00000168070 tier1 - - 29 0 0.00 23 9 27.27 C12orf29 0 genome.wustl.edu 37 12 88442121 88442124 + Frame_Shift_Del DEL TAAG TAAG - TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 TAAG TAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 88442121 88442124 TAAG - DEL C12orf29 ENST00000356891 human ensembl 74_37 +1 known frame_shift_del c.900_903 p.K301fs 0.250:0.251:0.177:0.110 NULL NULL - no_errors C12orf29 HGNC ENSG00000133641 tier1 75 0 0.00 46 31 40.26 C16orf62 0 genome.wustl.edu 37 16 19628044 19628044 + Nonsense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 16 19628044 19628044 C T SNP C16orf62 ENST00000438132 human ensembl 74_37 +1 known nonsense c.1405 p.Q469* 1.000 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 tier1 - - 75 0 0.00 58 23 28.40 C16orf91 0 genome.wustl.edu 37 16 1476218 1476218 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 16 1476218 1476218 C T SNP C16orf91 ENST00000310355 human ensembl 74_37 -1 known silent c.405 p.R135 0.000 NULL prints_CCSMST1 - no_errors C16orf91 HGNC ENSG00000174109 tier1 - - 57 0 0.00 86 5 5.49 C20orf112 0 genome.wustl.edu 37 20 31115602 31115602 + Missense_Mutation SNP T T C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 20 31115602 31115602 T C SNP C20orf112 ENST00000201961 human ensembl 74_37 -1 known missense c.154 p.K52E 1.000 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 tier1 - - 39 0 0.00 33 10 23.26 C2CD3 0 genome.wustl.edu 37 11 73745207 73745207 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 73745207 73745207 G C SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.5998 p.R2000G 0.009 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 tier1 - - 15 0 0.00 28 10 26.32 C3orf27 0 genome.wustl.edu 37 3 128292319 128292320 + Frame_Shift_Del DEL TC TC - TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 128292319 128292320 TC - DEL C3orf27 ENST00000356020 human ensembl 74_37 -1 known frame_shift_del c.254_253 p.D85fs 0.075:0.076 NULL NULL - no_errors C3orf27 HGNC ENSG00000198685 tier1 31 0 0.00 30 4 11.76 C3orf30 0 genome.wustl.edu 37 3 118865898 118865898 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 118865898 118865898 G C SNP C3orf30 ENST00000295622 human ensembl 74_37 +1 known missense c.862 p.E288Q 0.009 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C3orf30 HGNC ENSG00000163424 tier1 - - 41 0 0.00 26 27 50.94 C5orf42 0 genome.wustl.edu 37 5 37201793 37201793 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 37201793 37201793 G C SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.3407 p.S1136C 0.996 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 tier1 - - 47 0 0.00 50 14 21.88 CACNA1C 0 genome.wustl.edu 37 12 2783715 2783715 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 2783715 2783715 G C SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.4735 p.E1579Q 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 tier1 - - 53 0 0.00 47 8 14.55 CANX 0 genome.wustl.edu 37 5 179150701 179150701 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 179150701 179150701 G A SNP CANX ENST00000415618 human ensembl 74_37 +1 known missense c.1544 p.R515H 1.000 NULL pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CANX HGNC ENSG00000127022 tier1 - - 50 0 0.00 65 6 8.45 CAPN15 0 genome.wustl.edu 37 16 603464 603465 + Frame_Shift_Ins INS - - C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 16 603464 603465 - C INS CAPN15 ENST00000219611 human ensembl 74_37 +1 known frame_shift_ins c.3209_3210 p.L1073fs 0.998:0.991 NULL pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN15 HGNC ENSG00000103326 tier1 20 0 0.00 26 2 7.14 CAPZA1 0 genome.wustl.edu 37 1 113192078 113192078 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 113192078 113192078 G A SNP CAPZA1 ENST00000263168 human ensembl 74_37 +1 known missense c.142 p.E48K 1.000 pfam_CapZ_alpha pfam_CapZ_alpha,prints_CapZ_alpha - no_errors CAPZA1 HGNC ENSG00000116489 tier1 - - 44 0 0.00 59 4 6.35 CARD6 0 genome.wustl.edu 37 5 40852462 40852462 + Nonsense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 40852462 40852462 C G SNP CARD6 ENST00000254691 human ensembl 74_37 +1 known nonsense c.1028 p.S343* 0.003 NULL pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD - no_errors CARD6 HGNC ENSG00000132357 48 0 0.00 44 3 6.38 CASR 0 genome.wustl.edu 37 3 122003196 122003196 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 122003196 122003196 G C SNP CASR ENST00000498619 human ensembl 74_37 +1 known missense c.2425 p.E809Q 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 tier1 - - 18 0 0.00 27 13 32.50 CCBL2 0 genome.wustl.edu 37 1 89426940 89426940 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 89426940 89426940 C G SNP CCBL2 ENST00000260508 human ensembl 74_37 -1 known missense c.697 p.A233P 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors CCBL2 HGNC ENSG00000137944 tier1 - - 42 0 0.00 46 7 13.21 CCDC108 0 genome.wustl.edu 37 2 219870902 219870902 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 219870902 219870902 G A SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.4763 p.A1588V 0.814 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 tier1 - - 44 0 0.00 21 14 40.00 CCDC13 0 genome.wustl.edu 37 3 42799748 42799748 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 42799748 42799748 C T SNP CCDC13 ENST00000310232 human ensembl 74_37 -1 known missense c.90 p.M30I 1.000 NULL superfamily_Prefoldin - no_errors CCDC13 HGNC ENSG00000244607 tier1 - - 55 0 0.00 36 19 34.55 CCDC40 0 genome.wustl.edu 37 17 78013862 78013862 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 78013862 78013862 G A SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known silent c.345 p.P115 0.000 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 tier1 - - 30 0 0.00 30 5 14.29 CCDC59 0 genome.wustl.edu 37 12 82752046 82752046 + Missense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 82752046 82752046 C A SNP CCDC59 ENST00000256151 human ensembl 74_37 -1 known missense c.110 p.W37L 0.984 prints_rRNA_processing pfam_rRNA_processing,prints_rRNA_processing - no_errors CCDC59 HGNC ENSG00000133773 tier1 - - 39 0 0.00 57 17 22.97 CCDC66 0 genome.wustl.edu 37 3 56594942 56594942 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 56594942 56594942 C T SNP CCDC66 ENST00000434467 human ensembl 74_37 +1 known missense c.155 p.P52L 0.000 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 tier1 - - 69 0 0.00 43 16 27.12 CCSAP 0 genome.wustl.edu 37 1 229459933 229459933 + RNA SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 229459933 229459933 G A SNP CCSAP ENST00000483092 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CCSAP HGNC ENSG00000154429 tier1 - - 62 0 0.00 55 17 23.61 CD53 0 genome.wustl.edu 37 1 111440417 111440417 + RNA SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 111440417 111440417 G C SNP CD53 ENST00000464329 human ensembl 74_37 +1 known rna NULL NULL 0.026 - - - no_errors CD53 HGNC ENSG00000143119 tier1 - - 35 0 0.00 51 6 10.53 CDC20 0 genome.wustl.edu 37 1 43826244 43826244 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 43826244 43826244 G C SNP CDC20 ENST00000310955 human ensembl 74_37 +1 known missense c.828 p.W276C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC20 HGNC ENSG00000117399 tier1 - - 22 0 0.00 18 5 21.74 CDC42EP4 0 genome.wustl.edu 37 17 71282205 71282205 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 71282205 71282205 C T SNP CDC42EP4 ENST00000335793 human ensembl 74_37 -1 known silent c.435 p.K145 1.000 NULL pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom - no_errors CDC42EP4 HGNC ENSG00000179604 tier1 - - 19 0 0.00 18 23 56.10 CDH17 0 genome.wustl.edu 37 8 95188895 95188895 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 8 95188895 95188895 C G SNP CDH17 ENST00000027335 human ensembl 74_37 -1 known missense c.298 p.D100H 0.995 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH17 HGNC ENSG00000079112 tier1 - - 78 0 0.00 78 17 17.89 CDH23 0 genome.wustl.edu 37 10 73464809 73464809 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 10 73464809 73464809 G A SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.2890 p.A964T 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 20 0 0.00 15 3 16.67 CDH7 0 genome.wustl.edu 37 18 63430240 63430240 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 18 63430240 63430240 C G SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.162 p.F54L 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 tier1 - - 78 0 0.00 42 22 34.38 CENPF 0 genome.wustl.edu 37 1 214814749 214814749 + Missense_Mutation SNP T T G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 214814749 214814749 T G SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.3068 p.L1023R 0.429 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 tier1 - - 47 0 0.00 58 9 13.43 CENPH 0 genome.wustl.edu 37 5 68485511 68485511 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 68485511 68485511 G C SNP CENPH ENST00000283006 human ensembl 74_37 +1 known missense c.50 p.G17A 0.000 NULL pfam_CENP-H - no_errors CENPH HGNC ENSG00000153044 tier1 - - 54 0 0.00 65 22 25.29 CEP104 0 genome.wustl.edu 37 1 3756340 3756340 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 3756340 3756340 C T SNP CEP104 ENST00000378230 human ensembl 74_37 -1 known silent c.567 p.R189 0.998 NULL superfamily_Galactose-bd-like,superfamily_ARM-type_fold - no_errors CEP104 HGNC ENSG00000116198 tier1 - - 57 0 0.00 31 13 29.55 CEP164 0 genome.wustl.edu 37 11 117257946 117257946 + Silent SNP A A G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 117257946 117257946 A G SNP CEP164 ENST00000278935 human ensembl 74_37 +1 known silent c.1752 p.P584 0.000 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 36 0 0.00 28 2 6.67 CEP89 0 genome.wustl.edu 37 19 33462550 33462550 + RNA SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 33462550 33462550 G C SNP CEP89 ENST00000591863 human ensembl 74_37 -1 putative rna NULL NULL 0.244 - - - no_errors CEP89 HGNC ENSG00000121289 tier1 - - 13 0 0.00 13 4 23.53 CHD1L 0 genome.wustl.edu 37 1 146727518 146727518 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 146727518 146727518 G C SNP CHD1L ENST00000369258 human ensembl 74_37 +1 known missense c.398 p.R133T 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Macro_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors CHD1L HGNC ENSG00000131778 tier1 - - 48 0 0.00 38 12 24.00 CHML 0 genome.wustl.edu 37 1 241798135 241798135 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 241798135 241798135 C G SNP CHML ENST00000366553 human ensembl 74_37 -1 known missense c.934 p.D312H 0.988 pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHML HGNC ENSG00000203668 tier1 - - 48 0 0.00 51 19 27.14 CHMP6 0 genome.wustl.edu 37 17 78969547 78969547 + Missense_Mutation SNP A A G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 78969547 78969547 A G SNP CHMP6 ENST00000325167 human ensembl 74_37 +1 known missense c.337 p.K113E 0.998 pfam_Snf7 pfam_Snf7 - no_errors CHMP6 HGNC ENSG00000176108 tier1 - - 34 0 0.00 10 8 44.44 CHRNA5 0 genome.wustl.edu 37 15 78873159 78873159 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 15 78873159 78873159 C G SNP CHRNA5 ENST00000299565 human ensembl 74_37 +1 known missense c.113 p.S38C 0.958 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA5 HGNC ENSG00000169684 tier1 - - 162 0 0.00 118 62 34.25 CHRNA9 0 genome.wustl.edu 37 4 40356243 40356243 + Silent SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 4 40356243 40356243 G T SNP CHRNA9 ENST00000310169 human ensembl 74_37 +1 known silent c.1146 p.L382 0.004 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA9 HGNC ENSG00000174343 tier1 - - 43 0 0.00 71 5 6.58 CILP2 0 genome.wustl.edu 37 19 19653312 19653312 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 19653312 19653312 G A SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known missense c.721 p.D241N 0.583 superfamily_CarboxyPept-like_regulatory pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 tier1 - - 28 0 0.00 11 4 26.67 CKB 0 genome.wustl.edu 37 14 103986518 103986518 + Missense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 14 103986518 103986518 C A SNP CKB ENST00000348956 human ensembl 74_37 -1 known missense c.908 p.G303V 1.000 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKB HGNC ENSG00000166165 62 0 0.00 49 4 7.55 CLPTM1L 0 genome.wustl.edu 37 5 1330463 1330463 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 1330463 1330463 G A SNP CLPTM1L ENST00000320895 human ensembl 74_37 -1 known silent c.1012 p.L338 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1L HGNC ENSG00000049656 22 0 0.00 93 7 7.00 CLSPN 0 genome.wustl.edu 37 1 36211119 36211119 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 36211119 36211119 C T SNP CLSPN ENST00000318121 human ensembl 74_37 -1 known missense c.2899 p.E967K 1.000 NULL NULL - no_errors CLSPN HGNC ENSG00000092853 tier1 - - 55 0 0.00 44 9 16.98 CLSTN1 0 genome.wustl.edu 37 1 9796040 9796040 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 9796040 9796040 G A SNP CLSTN1 ENST00000377298 human ensembl 74_37 -1 known missense c.1637 p.S546F 1.000 superfamily_ConA-like_lec_gl_sf pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 tier1 - - 48 0 0.00 25 4 13.79 CNIH2 0 genome.wustl.edu 37 11 66045989 66045991 + In_Frame_Del DEL TCT TCT - TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 66045989 66045991 TCT - DEL CNIH2 ENST00000311445 human ensembl 74_37 +1 known in_frame_del c.62_64 p.F23in_frame_del 1.000:1.000:1.000 pfam_Cornichon pfam_Cornichon - no_errors CNIH2 HGNC ENSG00000174871 tier1 40 0 0.00 35 6 14.63 CNR1 0 genome.wustl.edu 37 6 88854985 88854985 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 88854985 88854985 C T SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known silent c.9 p.S3 0.656 pirsf_Canbinoid_rcpt_1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 tier1 - - 38 0 0.00 44 6 12.00 COG8 0 genome.wustl.edu 37 16 69354891 69354891 + RNA SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 16 69354891 69354891 C T SNP COG8 ENST00000564419 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors COG8 HGNC ENSG00000213380 tier1 - - 30 0 0.00 12 14 53.85 COL12A1 0 genome.wustl.edu 37 6 75893760 75893760 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 75893760 75893760 G A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known silent c.1098 p.V366 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 53 0 0.00 47 10 17.54 COL14A1 0 genome.wustl.edu 37 8 121292979 121292979 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 8 121292979 121292979 G C SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.3676 p.D1226H 0.034 superfamily_ConA-like_lec_gl_sf pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 tier1 - - 46 0 0.00 51 8 13.56 COL16A1 0 genome.wustl.edu 37 1 32126208 32126208 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 32126208 32126208 C G SNP COL16A1 ENST00000271069 human ensembl 74_37 -1 known missense c.3857 p.R1286T 1.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 tier1 - - 30 0 0.00 42 13 23.64 COL4A2 0 genome.wustl.edu 37 13 111117830 111117830 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 13 111117830 111117830 G C SNP COL4A2 ENST00000360467 human ensembl 74_37 +1 known missense c.1855 p.G619R 0.978 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 tier1 - - 102 0 0.00 73 10 12.05 COL6A3 0 genome.wustl.edu 37 2 238261195 238261195 + Silent SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 238261195 238261195 C G SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.6723 p.L2241 0.006 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 34 0 0.00 18 10 35.71 COLEC12 0 genome.wustl.edu 37 18 346689 346689 + Silent SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 18 346689 346689 C A SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known silent c.933 p.L311 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 tier1 - - 54 0 0.00 60 15 20.00 COPS5 0 genome.wustl.edu 37 8 67976567 67976567 + RNA SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 8 67976567 67976567 C A SNP COPS5 ENST00000517793 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors COPS5 HGNC ENSG00000121022 tier1 - - 31 0 0.00 32 15 31.91 CRHR1 0 genome.wustl.edu 37 17 43907863 43907863 + Nonsense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 43907863 43907863 C A SNP CRHR1 ENST00000398285 human ensembl 74_37 +1 known nonsense c.723 p.Y241* 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC ENSG00000120088 tier1 - - 26 0 0.00 21 13 38.24 CRNKL1 0 genome.wustl.edu 37 20 20024186 20024186 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 20 20024186 20024186 C G SNP CRNKL1 ENST00000377340 human ensembl 74_37 -1 known missense c.1405 p.E469Q 1.000 NULL pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 tier1 - - 43 0 0.00 36 30 45.45 CSE1L 0 genome.wustl.edu 37 20 47704604 47704604 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 20 47704604 47704604 C T SNP CSE1L ENST00000262982 human ensembl 74_37 +1 known silent c.1782 p.L594 0.988 pfam_CAS_CSE1_C,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 tier1 - - 59 0 0.00 63 12 16.00 CSNK2A3 0 genome.wustl.edu 37 11 11374595 11374595 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 11374595 11374595 C G SNP CSNK2A3 ENST00000528848 human ensembl 74_37 -1 novel missense c.72 p.W24C 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK2A3 HGNC ENSG00000254598 tier1 - - 93 0 0.00 88 14 13.73 CSPG4 0 genome.wustl.edu 37 15 75969636 75969636 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 15 75969636 75969636 G T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.5224 p.R1742S 0.980 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 tier1 - - 71 0 0.00 43 4 8.51 CTAGE9 0 genome.wustl.edu 37 6 132030636 132030636 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 132030636 132030636 C G SNP CTAGE9 ENST00000314099 human ensembl 74_37 -1 known missense c.1522 p.D508H 0.000 NULL NULL - no_errors CTAGE9 HGNC ENSG00000236761 tier1 - - 113 0 0.00 129 36 21.82 CWC22 0 genome.wustl.edu 37 2 180846701 180846701 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 180846701 180846701 C G SNP CWC22 ENST00000295749 human ensembl 74_37 -1 known missense c.230 p.R77T 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors CWC22 HGNC ENSG00000163510 21 0 0.00 21 4 16.00 CYB5A 0 genome.wustl.edu 37 18 71920820 71920820 + Nonstop_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 18 71920820 71920820 C A SNP CYB5A ENST00000340533 human ensembl 74_37 -1 known nonstop c.404 p.*135L 0.054 NULL pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd - no_errors CYB5A HGNC ENSG00000166347 tier1 - - 30 0 0.00 25 8 24.24 CYFIP2 0 genome.wustl.edu 37 5 156752515 156752515 + Silent SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 156752515 156752515 C G SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known silent c.1926 p.L642 0.963 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 tier1 - - 49 0 0.00 62 16 20.51 CYLC1 0 genome.wustl.edu 37 X 83128291 83128291 + Nonsense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 X 83128291 83128291 C G SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known nonsense c.575 p.S192* 0.000 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 tier1 - - 34 0 0.00 38 25 39.06 CYLC1 0 genome.wustl.edu 37 X 83129461 83129461 + Nonsense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 X 83129461 83129461 C G SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known nonsense c.1745 p.S582* 0.001 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 tier1 - - 18 0 0.00 26 14 35.00 CYP2C9 0 genome.wustl.edu 37 10 96748714 96748714 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 10 96748714 96748714 G C SNP CYP2C9 ENST00000260682 human ensembl 74_37 +1 known missense c.1402 p.D468H 0.117 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C9 HGNC ENSG00000138109 tier1 - - 67 0 0.00 90 9 9.09 DCAF17 0 genome.wustl.edu 37 2 172336638 172336638 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 172336638 172336638 G C SNP DCAF17 ENST00000375255 human ensembl 74_37 +1 known missense c.1357 p.D453H 1.000 NULL NULL - no_errors DCAF17 HGNC ENSG00000115827 tier1 - - 72 0 0.00 46 12 20.69 DCLK1 0 genome.wustl.edu 37 13 36410271 36410271 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 13 36410271 36410271 C T SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known silent c.1128 p.S376 0.917 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 tier1 - - 64 0 0.00 72 9 11.11 DDX11L9 0 genome.wustl.edu 37 15 102516922 102516922 + RNA SNP A A C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 15 102516922 102516922 A C SNP DDX11L9 ENST00000559159 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors DDX11L9 HGNC ENSG00000248472 tier1 - - 10 0 0.00 3 4 57.14 DDX21 0 genome.wustl.edu 37 10 70734442 70734442 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 10 70734442 70734442 G C SNP DDX21 ENST00000354185 human ensembl 74_37 +1 known missense c.1685 p.R562P 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX21 HGNC ENSG00000165732 tier1 - - 65 0 0.00 61 6 8.96 DDX24 0 genome.wustl.edu 37 14 94545833 94545833 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 14 94545833 94545833 C G SNP DDX24 ENST00000330836 human ensembl 74_37 -1 known missense c.256 p.E86Q 0.903 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX24 HGNC ENSG00000089737 tier1 - - 22 0 0.00 16 4 20.00 DDX5 0 genome.wustl.edu 37 17 62496429 62496429 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 62496429 62496429 C G SNP DDX5 ENST00000225792 human ensembl 74_37 -1 known missense c.1457 p.R486T 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX5 HGNC ENSG00000108654 tier1 - - 26 0 0.00 18 12 40.00 DDX60L 0 genome.wustl.edu 37 4 169377211 169377211 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 4 169377211 169377211 C G SNP DDX60L ENST00000260184 human ensembl 74_37 -1 known missense c.816 p.L272F 0.015 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60L HGNC ENSG00000181381 tier1 - - 27 0 0.00 28 12 30.00 DEFB108B 0 genome.wustl.edu 37 11 71548582 71548582 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 71548582 71548582 G C SNP DEFB108B ENST00000328698 human ensembl 74_37 +1 known missense c.196 p.E66Q 0.002 NULL NULL - no_errors DEFB108B HGNC ENSG00000184276 tier1 - - 356 0 0.00 325 101 23.71 DFNB59 0 genome.wustl.edu 37 2 179319173 179319173 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 179319173 179319173 C G SNP DFNB59 ENST00000375129 human ensembl 74_37 +1 known missense c.326 p.S109C 1.000 pfam_Gasdermin pfam_Gasdermin - no_errors DFNB59 HGNC ENSG00000204311 tier1 - - 59 0 0.00 37 14 27.45 DHX9 0 genome.wustl.edu 37 1 182829167 182829167 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 182829167 182829167 G A SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known missense c.1180 p.E394K 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 tier1 - - 75 0 0.00 61 25 29.07 DIP2A 0 genome.wustl.edu 37 21 47974553 47974553 + Frame_Shift_Del DEL C C - TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 21 47974553 47974553 C - DEL DIP2A ENST00000318711 human ensembl 74_37 +1 known frame_shift_del c.3223 p.P1076fs 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 tier1 35 0 0.00 35 2 5.41 DLG5 0 genome.wustl.edu 37 10 79569442 79569442 + Missense_Mutation SNP A A T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 10 79569442 79569442 A T SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known missense c.4510 p.F1504I 0.928 superfamily_PDZ,pfscan_PDZ pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 tier1 - - 59 0 0.00 23 12 34.29 DNAJC28 0 genome.wustl.edu 37 21 34860764 34860764 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 21 34860764 34860764 C G SNP DNAJC28 ENST00000314399 human ensembl 74_37 -1 known missense c.937 p.D313H 1.000 NULL pfam_DnaJ_homolog_subfam-C_membr-28,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC28 HGNC ENSG00000177692 tier1 - - 87 0 0.00 55 16 22.54 DNMT3A 0 genome.wustl.edu 37 2 25497920 25497920 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 25497920 25497920 C G SNP DNMT3A ENST00000264709 human ensembl 74_37 -1 known missense c.529 p.E177Q 1.000 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3A HGNC ENSG00000119772 tier1 - - 81 0 0.00 75 9 10.71 DQX1 0 genome.wustl.edu 37 2 74746774 74746774 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 74746774 74746774 C T SNP DQX1 ENST00000393951 human ensembl 74_37 -1 known missense c.1715 p.R572Q 0.928 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 38 0 0.00 19 2 9.52 DSCAML1 0 genome.wustl.edu 37 11 117387201 117387201 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 117387201 117387201 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.1944 p.S648 0.404 smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 27 0 0.00 21 2 8.70 DSG4 0 genome.wustl.edu 37 18 28993211 28993211 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 18 28993211 28993211 G C SNP DSG4 ENST00000359747 human ensembl 74_37 +1 known missense c.2833 p.D945H 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG4 HGNC ENSG00000175065 tier1 - - 37 0 0.00 25 18 41.86 DYNC1H1 0 genome.wustl.edu 37 14 102483493 102483493 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 14 102483493 102483493 C T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.7917 p.C2639 0.999 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 38 0 0.00 31 2 6.06 DYNC1I1 0 genome.wustl.edu 37 7 95705494 95705494 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 95705494 95705494 C T SNP DYNC1I1 ENST00000324972 human ensembl 74_37 +1 known silent c.1686 p.L562 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC ENSG00000158560 tier1 - - 35 0 0.00 29 5 14.71 DYNC2H1 0 genome.wustl.edu 37 11 103041718 103041718 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 103041718 103041718 C T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.5255 p.S1752L 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 70 0 0.00 56 32 36.36 DYNLT1 0 genome.wustl.edu 37 6 159058091 159058091 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 159058091 159058091 C G SNP DYNLT1 ENST00000367088 human ensembl 74_37 -1 known missense c.133 p.E45Q 0.000 NULL pfam_Tctex - no_errors DYNLT1 HGNC ENSG00000146425 tier1 - - 21 0 0.00 19 11 36.67 EFCAB4A 0 genome.wustl.edu 37 11 831001 831001 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 831001 831001 G A SNP EFCAB4A ENST00000525077 human ensembl 74_37 +1 novel missense c.922 p.E308K 0.174 NULL pfscan_EF_hand_dom - no_errors EFCAB4A HGNC ENSG00000177685 tier1 - - 18 0 0.00 4 3 42.86 EFNB2 0 genome.wustl.edu 37 13 107187251 107187251 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 13 107187251 107187251 C G SNP EFNB2 ENST00000245323 human ensembl 74_37 -1 known missense c.62 p.R21T 1.000 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB2 HGNC ENSG00000125266 tier1 - - 95 0 0.00 110 38 25.68 ELF1 0 genome.wustl.edu 37 13 41515340 41515340 + Nonsense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 13 41515340 41515340 G A SNP ELF1 ENST00000239882 human ensembl 74_37 -1 known nonsense c.973 p.Q325* 1.000 NULL pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF1 HGNC ENSG00000120690 tier1 - - 52 0 0.00 44 15 25.00 ELFN1 0 genome.wustl.edu 37 7 1785016 1785016 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 1785016 1785016 C T SNP ELFN1 ENST00000424383 human ensembl 74_37 +1 known missense c.784 p.P262S 0.237 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors ELFN1 HGNC ENSG00000225968 tier1 - - 8 0 0.00 10 7 41.18 EMC1 0 genome.wustl.edu 37 1 19547522 19547522 + RNA SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 19547522 19547522 C G SNP EMC1 ENST00000461353 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EMC1 HGNC ENSG00000127463 tier1 - - 19 0 0.00 12 4 25.00 ENO4 0 genome.wustl.edu 37 10 118615248 118615248 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 10 118615248 118615248 C G SNP ENO4 ENST00000341276 human ensembl 74_37 +1 known missense c.283 p.Q95E 1.000 pfam_Enolase_N pfam_Enolase_C,pfam_Enolase_N - no_errors ENO4 HGNC ENSG00000188316 tier1 - - 82 0 0.00 94 10 9.62 ENPP1 0 genome.wustl.edu 37 6 132190551 132190551 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 132190551 132190551 G T SNP ENPP1 ENST00000360971 human ensembl 74_37 +1 known missense c.1327 p.D443Y 0.334 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000197594 tier1 - - 67 0 0.00 51 6 10.53 ENSG00000141854 0 genome.wustl.edu 37 19 14183884 14183884 + Silent SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 14183884 14183884 C G SNP ENSG00000141854 ENST00000269720 human ensembl 74_37 +1 known silent c.189 p.L63 0.000 NULL NULL - no_errors hsa-mir-1199 miRBase ENSG00000141854 tier1 - - 115 0 0.00 53 14 20.29 ENSG00000225411 0 genome.wustl.edu 37 9 68400387 68400387 + RNA DEL C C - TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 68400387 68400387 C - DEL ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.103 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 11 0 0.00 8 4 33.33 ENSG00000226438 0 genome.wustl.edu 37 1 39715548 39715548 + RNA SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 39715548 39715548 C T SNP ENSG00000226438 ENST00000289890 human ensembl 74_37 -1 known rna NULL NULL 0.419 - - - no_errors RP11-420K8.1 Clone_based_vega_gene ENSG00000226438 tier1 - - 35 0 0.00 21 12 36.36 ENSG00000250387 0 genome.wustl.edu 37 5 70741606 70741606 + RNA DEL C C - TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 70741606 70741606 C - DEL ENSG00000250387 ENST00000502659 human ensembl 74_37 -1 known rna NULL NULL 0.347 - - - no_errors RP11-136K7.2 Clone_based_vega_gene ENSG00000250387 tier1 28 0 0.00 36 10 21.74 ENSG00000255537 0 genome.wustl.edu 37 11 125365498 125365498 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 125365498 125365498 G C SNP ENSG00000255537 ENST00000527818 human ensembl 74_37 +1 putative missense c.274 p.E92Q 0.000 NULL NULL - no_errors AP000708.1 Clone_based_vega_gene ENSG00000255537 tier1 - - 25 0 0.00 20 8 28.57 ENSG00000258856 0 genome.wustl.edu 37 14 58096827 58096827 + RNA SNP A A G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 14 58096827 58096827 A G SNP ENSG00000258856 ENST00000600311 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2325K12.1 Clone_based_vega_gene ENSG00000258856 tier1 - - 100 0 0.00 64 25 28.09 ENSG00000261240 0 genome.wustl.edu 37 16 2163121 2163121 + RNA DEL C C - TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 16 2163121 2163121 C - DEL ENSG00000261240 ENST00000568795 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-304L19.4 Clone_based_vega_gene ENSG00000261240 tier1 40 0 0.00 40 9 18.37 ENSG00000261586 0 genome.wustl.edu 37 12 52213863 52213863 + RNA SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 52213863 52213863 G C SNP ENSG00000261586 ENST00000562343 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-923I11.6 Clone_based_vega_gene ENSG00000261586 tier1 - - 20 0 0.00 23 7 23.33 ENSG00000264299 0 genome.wustl.edu 37 11 125828460 125828460 + RNA SNP A A G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 125828460 125828460 A G SNP ENSG00000264299 ENST00000582823 human ensembl 74_37 +1 known rna NULL NULL 0.301 - - - no_errors RP11-680F20.12 Clone_based_vega_gene ENSG00000264299 tier1 rs582224 - 72 0 0.00 86 7 7.53 ENSG00000267359 0 genome.wustl.edu 37 17 33881770 33881773 + RNA DEL AAAA AAAA - TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 33881770 33881773 AAAA - DEL ENSG00000267359 ENST00000588445 human ensembl 74_37 +1 known rna NULL NULL 0.014:0.014:0.007:0.002 - - - no_errors RP11-1094M14.12 Clone_based_vega_gene ENSG00000267359 tier1 13 0 0.00 12 4 25.00 EP400 0 genome.wustl.edu 37 12 132467003 132467003 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 132467003 132467003 C G SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.2017 p.Q673E 0.658 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 tier1 - - 26 0 0.00 15 9 37.50 EPOR 0 genome.wustl.edu 37 19 11488935 11488935 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 11488935 11488935 C T SNP EPOR ENST00000222139 human ensembl 74_37 -1 known missense c.1252 p.G418R 0.512 pirsf_Erythropoietin_rcpt pirsf_Erythropoietin_rcpt,pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors EPOR HGNC ENSG00000187266 tier1 - - 25 0 0.00 16 9 36.00 ERC2 0 genome.wustl.edu 37 3 55733455 55733455 + Missense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 55733455 55733455 C A SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known missense c.2798 p.R933L 1.000 NULL pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 43 0 0.00 46 3 6.12 F2 0 genome.wustl.edu 37 11 46744983 46744983 + Frame_Shift_Del DEL C C - TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 46744983 46744983 C - DEL F2 ENST00000311907 human ensembl 74_37 +1 known frame_shift_del c.474 p.N159fs 0.865 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Prothrombin/thrombin,pfscan_Kringle pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 tier1 40 0 0.00 33 2 5.71 FAM129B 0 genome.wustl.edu 37 9 130269200 130269200 + Missense_Mutation SNP T T A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 130269200 130269200 T A SNP FAM129B ENST00000373312 human ensembl 74_37 -1 known missense c.2165 p.Q722L 1.000 NULL pfscan_Pleckstrin_homology - no_errors FAM129B HGNC ENSG00000136830 12 0 0.00 3 2 40.00 FAM178A 0 genome.wustl.edu 37 10 102703859 102703859 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 10 102703859 102703859 G C SNP FAM178A ENST00000370269 human ensembl 74_37 +1 known missense c.2731 p.E911Q 1.000 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 tier1 - - 84 0 0.00 83 13 13.54 FAM184B 0 genome.wustl.edu 37 4 17661649 17661649 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 4 17661649 17661649 C G SNP FAM184B ENST00000265018 human ensembl 74_37 -1 known missense c.1756 p.E586Q 1.000 NULL NULL - no_errors FAM184B HGNC ENSG00000047662 tier1 - - 77 0 0.00 39 13 25.00 FAM92B 0 genome.wustl.edu 37 16 85141485 85141485 + Silent SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 16 85141485 85141485 C G SNP FAM92B ENST00000539556 human ensembl 74_37 -1 known silent c.393 p.L131 0.999 pfam_FAM92 pfam_FAM92 - no_errors FAM92B HGNC ENSG00000153789 tier1 - - 40 0 0.00 17 7 29.17 FAM92B 0 genome.wustl.edu 37 16 85141517 85141517 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 16 85141517 85141517 C G SNP FAM92B ENST00000539556 human ensembl 74_37 -1 known missense c.361 p.E121Q 1.000 pfam_FAM92 pfam_FAM92 - no_errors FAM92B HGNC ENSG00000153789 tier1 - - 42 0 0.00 21 11 34.38 FANCD2 0 genome.wustl.edu 37 3 10131997 10131997 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 10131997 10131997 C T SNP FANCD2 ENST00000287647 human ensembl 74_37 +1 known silent c.3705 p.F1235 1.000 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 tier1 - - 61 0 0.00 46 10 17.86 FATE1 0 genome.wustl.edu 37 X 150884668 150884668 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 X 150884668 150884668 G C SNP FATE1 ENST00000370350 human ensembl 74_37 +1 known missense c.77 p.G26A 0.000 NULL pfam_FATE/Miff/Tango-11 - no_errors FATE1 HGNC ENSG00000147378 tier1 - - 32 0 0.00 13 13 50.00 FBP2 0 genome.wustl.edu 37 9 97346898 97346898 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 97346898 97346898 G A SNP FBP2 ENST00000375337 human ensembl 74_37 -1 known silent c.387 p.C129 0.996 pfam_FBPase_class-1/SBPase pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase - no_errors FBP2 HGNC ENSG00000130957 47 0 0.00 25 3 10.71 FEZ1 0 genome.wustl.edu 37 11 125325912 125325912 + Missense_Mutation SNP T T C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 125325912 125325912 T C SNP FEZ1 ENST00000278919 human ensembl 74_37 -1 known missense c.758 p.Q253R 1.000 pfam_FEZ pfam_FEZ - no_errors FEZ1 HGNC ENSG00000149557 tier1 - - 11 0 0.00 20 5 20.00 FKBP7 0 genome.wustl.edu 37 2 179343292 179343292 + RNA SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 179343292 179343292 G A SNP FKBP7 ENST00000470945 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FKBP7 HGNC ENSG00000079150 tier1 - - 26 0 0.00 26 5 16.13 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74663999 74663999 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 74663999 74663999 C G SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.76 p.R26G 0.011 NULL pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 tier1 rs201738008 - 54 0 0.00 37 4 9.76 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74715181 74715181 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 74715181 74715181 G A SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.530 p.R177H 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 tier1 - - 44 0 0.00 73 20 21.51 FRY 0 genome.wustl.edu 37 13 32753865 32753865 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 13 32753865 32753865 G T SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.2925 p.M975I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 tier1 - - 37 0 0.00 55 4 6.78 FRYL 0 genome.wustl.edu 37 4 48577189 48577189 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 4 48577189 48577189 C G SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.2791 p.E931Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 tier1 - - 119 0 0.00 132 35 20.96 GAB4 0 genome.wustl.edu 37 22 17488987 17488987 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 22 17488987 17488987 G A SNP GAB4 ENST00000400588 human ensembl 74_37 -1 known silent c.18 p.P6 0.010 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 tier1 - - 36 0 0.00 18 12 40.00 GABRB1 0 genome.wustl.edu 37 4 47405694 47405694 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 4 47405694 47405694 C G SNP GABRB1 ENST00000295454 human ensembl 74_37 +1 known missense c.801 p.I267M 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,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 GABRB1 HGNC ENSG00000163288 tier1 - - 33 0 0.00 22 13 37.14 GADD45G 0 genome.wustl.edu 37 9 92220309 92220309 + RNA SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 92220309 92220309 C G SNP GADD45G ENST00000494726 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GADD45G HGNC ENSG00000130222 tier1 - - 19 0 0.00 18 7 28.00 GAS2 0 genome.wustl.edu 37 11 22747881 22747881 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 22747881 22747881 C G SNP GAS2 ENST00000278187 human ensembl 74_37 +1 known missense c.311 p.S104W 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2 HGNC ENSG00000148935 tier1 - - 60 0 0.00 62 9 12.68 GATAD1 0 genome.wustl.edu 37 7 92080020 92080020 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 92080020 92080020 C G SNP GATAD1 ENST00000287957 human ensembl 74_37 +1 known missense c.381 p.I127M 1.000 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD1 HGNC ENSG00000157259 tier1 - - 23 0 0.00 28 4 12.50 GCLM 0 genome.wustl.edu 37 1 94370138 94370138 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 94370138 94370138 C G SNP GCLM ENST00000370238 human ensembl 74_37 -1 known missense c.133 p.D45H 1.000 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors GCLM HGNC ENSG00000023909 tier1 - - 62 0 0.00 45 12 21.05 GCNT6 0 genome.wustl.edu 37 6 10634212 10634212 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 10634212 10634212 G C SNP GCNT6 ENST00000417671 human ensembl 74_37 +1 known missense c.220 p.D74H 0.000 NULL pfam_Glyco_trans_14 - no_errors GCNT6 HGNC ENSG00000205318 tier1 - - 53 0 0.00 43 16 27.12 GFM1 0 genome.wustl.edu 37 3 158363491 158363491 + Nonsense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 158363491 158363491 C G SNP GFM1 ENST00000486715 human ensembl 74_37 +1 known nonsense c.155 p.S52* 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom 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_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 tier1 - - 101 0 0.00 103 13 11.21 GFRA1 0 genome.wustl.edu 37 10 117825136 117825136 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 10 117825136 117825136 G A SNP GFRA1 ENST00000355422 human ensembl 74_37 -1 known missense c.1199 p.A400V 1.000 pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC ENSG00000151892 tier1 - - 23 0 0.00 24 5 17.24 GLTSCR1 0 genome.wustl.edu 37 19 48176990 48176990 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 48176990 48176990 C G SNP GLTSCR1 ENST00000396720 human ensembl 74_37 +1 known missense c.55 p.L19V 1.000 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 tier1 - - 42 0 0.00 42 4 8.70 GLYR1 0 genome.wustl.edu 37 16 4863802 4863802 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 16 4863802 4863802 C T SNP GLYR1 ENST00000321919 human ensembl 74_37 -1 known missense c.1055 p.R352H 1.000 pfam_6PGDH_NADP-bd pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom - no_errors GLYR1 HGNC ENSG00000140632 22 0 0.00 32 4 11.11 GNPTAB 0 genome.wustl.edu 37 12 102158669 102158669 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 102158669 102158669 G T SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known missense c.2026 p.P676T 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 53 0 0.00 73 4 5.19 GPC6 0 genome.wustl.edu 37 13 93879852 93879852 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 13 93879852 93879852 C T SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.143 p.P48L 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 tier1 - - 20 0 0.00 8 7 46.67 GPR156 0 genome.wustl.edu 37 3 119886160 119886160 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 119886160 119886160 C T SNP GPR156 ENST00000315843 human ensembl 74_37 -1 known missense c.2164 p.E722K 0.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC ENSG00000175697 tier1 - - 34 0 0.00 28 4 12.50 GPR180 0 genome.wustl.edu 37 13 95271749 95271749 + Silent SNP A A C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 13 95271749 95271749 A C SNP GPR180 ENST00000376958 human ensembl 74_37 +1 known silent c.714 p.P238 1.000 pfam_Intimal_thickness-rel_rcpt,pfam_TM_rcpt_euk pfam_Intimal_thickness-rel_rcpt,pfam_TM_rcpt_euk - no_errors GPR180 HGNC ENSG00000152749 tier1 - - 55 0 0.00 61 13 17.57 GPR3 0 genome.wustl.edu 37 1 27721276 27721276 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 27721276 27721276 G T SNP GPR3 ENST00000374024 human ensembl 74_37 +1 known missense c.974 p.R325L 1.000 NULL pfam_GPCR_Rhodpsn,prints_GPR_3/6/12_orphan,prints_GPR3,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR3 HGNC ENSG00000181773 31 0 0.00 28 2 6.67 GPR98 0 genome.wustl.edu 37 5 89949169 89949169 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 89949169 89949169 G C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.3778 p.E1260Q 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 42 0 0.00 53 10 15.87 GRIA3 0 genome.wustl.edu 37 X 122613989 122613989 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 X 122613989 122613989 C T SNP GRIA3 ENST00000371256 human ensembl 74_37 +1 known silent c.2400 p.Y800 1.000 pfam_Iontro_glu_rcpt,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 tier1 - - 72 0 0.00 36 41 53.25 GRID2IP 0 genome.wustl.edu 37 7 6541650 6541650 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 6541650 6541650 C T SNP GRID2IP ENST00000457091 human ensembl 74_37 -1 putative missense c.3250 p.D1084N 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ - no_errors GRID2IP HGNC ENSG00000215045 tier1 - - 22 0 0.00 36 17 32.08 GRIN3B 0 genome.wustl.edu 37 19 1005401 1005401 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 1005401 1005401 G T SNP GRIN3B ENST00000234389 human ensembl 74_37 +1 known missense c.1901 p.S634I 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC ENSG00000116032 24 0 0.00 16 5 23.81 GTF2IRD1 0 genome.wustl.edu 37 7 73969808 73969808 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 73969808 73969808 G C SNP GTF2IRD1 ENST00000265755 human ensembl 74_37 +1 known missense c.2052 p.K684N 1.000 pirsf_TF_II-I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 tier1 - - 40 0 0.00 28 14 33.33 HCAR1 0 genome.wustl.edu 37 12 123214080 123214080 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 123214080 123214080 C T SNP HCAR1 ENST00000356987 human ensembl 74_37 -1 known missense c.807 p.M269I 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR1 HGNC ENSG00000196917 tier1 - - 51 0 0.00 85 10 10.53 HCN4 0 genome.wustl.edu 37 15 73614969 73614969 + Missense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 15 73614969 73614969 C A SNP HCN4 ENST00000261917 human ensembl 74_37 -1 known missense c.3465 p.K1155N 1.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 tier1 - - 9 0 0.00 5 9 64.29 HEATR5B 0 genome.wustl.edu 37 2 37230747 37230747 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 37230747 37230747 C G SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.4988 p.G1663A 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 tier1 - - 59 0 0.00 72 26 26.53 HELB 0 genome.wustl.edu 37 12 66700240 66700240 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 66700240 66700240 G C SNP HELB ENST00000247815 human ensembl 74_37 +1 known missense c.723 p.L241F 0.002 NULL superfamily_P-loop_NTPase - no_errors HELB HGNC ENSG00000127311 tier1 - - 96 0 0.00 95 10 9.52 HHIPL2 0 genome.wustl.edu 37 1 222713363 222713363 + Missense_Mutation SNP T T C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 222713363 222713363 T C SNP HHIPL2 ENST00000343410 human ensembl 74_37 -1 known missense c.1439 p.N480S 1.000 pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 tier1 rs140791930 - 28 0 0.00 32 11 25.58 HHIPL2 0 genome.wustl.edu 37 1 222717196 222717196 + Silent SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 222717196 222717196 G T SNP HHIPL2 ENST00000343410 human ensembl 74_37 -1 known silent c.657 p.P219 0.007 superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 38 0 0.00 32 2 5.88 HK2 0 genome.wustl.edu 37 2 75104436 75104436 + Nonsense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 75104436 75104436 C G SNP HK2 ENST00000290573 human ensembl 74_37 +1 known nonsense c.1019 p.S340* 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 30 0 0.00 24 3 11.11 HLA-B 0 genome.wustl.edu 37 6 31324463 31324463 + Splice_Site SNP A A G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 31324463 31324463 A G SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known splice_site c.343+2 e2+2 1.000 - - - no_errors HLA-B HGNC ENSG00000234745 tier1 - - 45 0 0.00 46 11 19.30 HLA-B 0 genome.wustl.edu 37 6 31324464 31324464 + Splice_Site SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 31324464 31324464 C A SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known splice_site c.343+1 e2+1 1.000 - - - no_errors HLA-B HGNC ENSG00000234745 tier1 - - 45 0 0.00 48 11 18.64 HNRNPH1 0 genome.wustl.edu 37 5 179047895 179047895 + Nonsense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 179047895 179047895 G C SNP HNRNPH1 ENST00000356731 human ensembl 74_37 -1 known nonsense c.395 p.S132* 1.000 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 - - 51 0 0.00 38 7 15.56 HOOK2 0 genome.wustl.edu 37 19 12882120 12882120 + Nonsense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 12882120 12882120 G C SNP HOOK2 ENST00000397668 human ensembl 74_37 -1 known nonsense c.614 p.S205* 0.073 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 tier1 - - 78 0 0.00 41 19 31.67 HOXD12 0 genome.wustl.edu 37 2 176965274 176965274 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 176965274 176965274 G C SNP HOXD12 ENST00000406506 human ensembl 74_37 +1 known missense c.599 p.G200A 1.000 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD12 HGNC ENSG00000170178 tier1 - - 65 0 0.00 63 26 29.21 HSD3B1 0 genome.wustl.edu 37 1 120050130 120050130 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 120050130 120050130 G T SNP HSD3B1 ENST00000235547 human ensembl 74_37 +1 known missense c.37 p.A13S 1.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA - no_errors HSD3B1 HGNC ENSG00000203857 70 0 0.00 74 4 5.13 IFT172 0 genome.wustl.edu 37 2 27679461 27679461 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 27679461 27679461 C G SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.3288 p.K1096N 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 tier1 - - 31 0 0.00 32 5 13.51 IFT172 0 genome.wustl.edu 37 2 27683889 27683889 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 27683889 27683889 G A SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known silent c.2514 p.F838 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 tier1 - - 49 0 0.00 35 17 32.69 IGFALS 0 genome.wustl.edu 37 16 1841183 1841183 + Silent SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 16 1841183 1841183 G C SNP IGFALS ENST00000415638 human ensembl 74_37 -1 known silent c.1350 p.L450 0.996 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors IGFALS HGNC ENSG00000099769 tier1 - - 33 0 0.00 36 4 9.76 IL17RB 0 genome.wustl.edu 37 3 53886917 53886917 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 53886917 53886917 G A SNP IL17RB ENST00000288167 human ensembl 74_37 +1 known missense c.374 p.G125D 1.000 NULL pfam_SEFIR - no_errors IL17RB HGNC ENSG00000056736 tier1 - - 74 0 0.00 65 4 5.80 INADL 0 genome.wustl.edu 37 1 62237287 62237287 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 62237287 62237287 C G SNP INADL ENST00000371158 human ensembl 74_37 +1 known missense c.709 p.L237V 0.227 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 tier1 - - 47 0 0.00 66 4 5.71 INF2 0 genome.wustl.edu 37 14 105172433 105172433 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 14 105172433 105172433 G A SNP INF2 ENST00000392634 human ensembl 74_37 +1 known missense c.763 p.D255N 1.000 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 tier1 - - 87 0 0.00 42 22 34.38 INHA 0 genome.wustl.edu 37 2 220437184 220437184 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 220437184 220437184 C G SNP INHA ENST00000243786 human ensembl 74_37 +1 known missense c.88 p.L30V 1.000 pirsf_Inhibin_asu_subgr pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr,prints_Inhibin_asu - no_errors INHA HGNC ENSG00000123999 tier1 - - 84 0 0.00 36 37 50.68 JAG2 0 genome.wustl.edu 37 14 105617715 105617715 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 14 105617715 105617715 G C SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known missense c.1172 p.S391W 0.998 pfam_EG-like_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 tier1 - - 59 0 0.00 26 14 35.00 JMY 0 genome.wustl.edu 37 5 78620720 78620720 + RNA SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 78620720 78620720 G C SNP JMY ENST00000412001 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors JMY HGNC ENSG00000152409 tier1 - - 137 0 0.00 84 19 18.45 KCMF1 0 genome.wustl.edu 37 2 85276546 85276546 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 85276546 85276546 C T SNP KCMF1 ENST00000409785 human ensembl 74_37 +1 known missense c.659 p.S220F 1.000 pfam_Di19_Zn_binding pfam_Znf_ZZ,pfam_Di19_Zn_binding,smart_Znf_ZZ,smart_Znf_C2H2-like,pfscan_Znf_ZZ,pfscan_Znf_C2H2 - no_errors KCMF1 HGNC ENSG00000176407 tier1 - - 28 0 0.00 18 21 53.85 KCNF1 0 genome.wustl.edu 37 2 11053879 11053879 + Frame_Shift_Del DEL G G - TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 11053879 11053879 G - DEL KCNF1 ENST00000295082 human ensembl 74_37 +1 known frame_shift_del c.1327 p.G444fs 0.875 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 tier1 30 0 0.00 30 2 6.25 KCNIP3 0 genome.wustl.edu 37 2 96051150 96051150 + RNA SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 96051150 96051150 G T SNP KCNIP3 ENST00000377181 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors KCNIP3 HGNC ENSG00000115041 tier1 - - 80 0 0.00 71 4 5.33 KCNK13 0 genome.wustl.edu 37 14 90650758 90650758 + Nonsense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 14 90650758 90650758 C G SNP KCNK13 ENST00000282146 human ensembl 74_37 +1 known nonsense c.638 p.S213* 0.997 pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 tier1 - - 28 0 0.00 12 7 36.84 KCNK13 0 genome.wustl.edu 37 14 90650533 90650533 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 14 90650533 90650533 C G SNP KCNK13 ENST00000282146 human ensembl 74_37 +1 known missense c.413 p.T138S 1.000 pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 15 0 0.00 11 4 26.67 KIAA1549L 0 genome.wustl.edu 37 11 33667496 33667496 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 33667496 33667496 C T SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.4801 p.P1601S 0.999 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 tier1 - - 42 0 0.00 33 14 29.79 KIAA1549L 0 genome.wustl.edu 37 11 33667497 33667497 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 33667497 33667497 C T SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.4802 p.P1601L 0.999 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 tier1 - - 41 0 0.00 33 14 29.79 KIAA1841 0 genome.wustl.edu 37 2 61389617 61389617 + RNA SNP T T C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 61389617 61389617 T C SNP KIAA1841 ENST00000488469 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors KIAA1841 HGNC ENSG00000162929 tier1 - - 68 0 0.00 63 8 11.27 KIAA1919 0 genome.wustl.edu 37 6 111588180 111588180 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 111588180 111588180 G A SNP KIAA1919 ENST00000368847 human ensembl 74_37 +1 known missense c.1415 p.R472K 0.097 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 48 0 0.00 46 3 6.12 KIF11 0 genome.wustl.edu 37 10 94408026 94408026 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 10 94408026 94408026 C T SNP KIF11 ENST00000260731 human ensembl 74_37 +1 known missense c.2605 p.R869C 0.024 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC ENSG00000138160 tier1 rs149407589 - 90 0 0.00 119 11 8.46 KIF1B 0 genome.wustl.edu 37 1 10434400 10434400 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 10434400 10434400 C G SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.4835 p.S1612C 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 tier1 - - 71 0 0.00 45 22 32.84 KLB 0 genome.wustl.edu 37 4 39448748 39448748 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 4 39448748 39448748 C G SNP KLB ENST00000257408 human ensembl 74_37 +1 known missense c.2402 p.S801W 0.958 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 tier1 - - 42 0 0.00 43 12 21.82 KLHDC9 0 genome.wustl.edu 37 1 161068192 161068192 + RNA SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 161068192 161068192 G C SNP KLHDC9 ENST00000469647 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors KLHDC9 HGNC ENSG00000162755 tier1 - - 10 0 0.00 11 6 35.29 KLHL21 0 genome.wustl.edu 37 1 6659289 6659289 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 6659289 6659289 G C SNP KLHL21 ENST00000377658 human ensembl 74_37 -1 known missense c.1245 p.C415W 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL21 HGNC ENSG00000162413 26 0 0.00 15 2 11.76 KLHL4 0 genome.wustl.edu 37 X 86880713 86880713 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 X 86880713 86880713 C G SNP KLHL4 ENST00000373114 human ensembl 74_37 +1 known missense c.1241 p.S414C 0.988 NULL pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 tier1 - - 25 0 0.00 24 21 46.67 KMT2D 0 genome.wustl.edu 37 12 49427918 49427918 + Nonsense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 49427918 49427918 C A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known nonsense c.10672 p.E3558* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 26 0 0.00 29 8 21.62 KRT78 0 genome.wustl.edu 37 12 53242563 53242563 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 53242563 53242563 G C SNP KRT78 ENST00000304620 human ensembl 74_37 -1 known missense c.152 p.S51C 0.004 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT78 HGNC ENSG00000170423 tier1 - - 35 0 0.00 29 10 25.64 KRTAP5-7 0 genome.wustl.edu 37 11 71238747 71238747 + Nonsense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 71238747 71238747 C G SNP KRTAP5-7 ENST00000398536 human ensembl 74_37 +1 known nonsense c.401 p.S134* 0.004 NULL NULL - no_errors KRTAP5-7 HGNC ENSG00000244411 tier1 - - 96 0 0.00 91 19 17.27 LAMA5 0 genome.wustl.edu 37 20 60884275 60884275 + RNA SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 20 60884275 60884275 G A SNP LAMA5 ENST00000492698 human ensembl 74_37 -1 known rna NULL NULL 0.989 - - - no_errors LAMA5 HGNC ENSG00000130702 tier1 - - 31 0 0.00 22 3 12.00 LAMC1 0 genome.wustl.edu 37 1 183093999 183093999 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 183093999 183093999 G C SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.2635 p.D879H 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 tier1 - - 28 0 0.00 43 4 8.51 LAPTM5 0 genome.wustl.edu 37 1 31211805 31211805 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 31211805 31211805 G C SNP LAPTM5 ENST00000294507 human ensembl 74_37 -1 known missense c.492 p.F164L 1.000 pfam_LAPTM4/5,tigrfam_LAPTM_4A/5 pfam_LAPTM4/5,tigrfam_LAPTM_4A/5 - no_errors LAPTM5 HGNC ENSG00000162511 tier1 - - 24 0 0.00 42 12 22.22 LCE3C 0 genome.wustl.edu 37 1 152573397 152573397 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 152573397 152573397 C G SNP LCE3C ENST00000333881 human ensembl 74_37 +1 known missense c.190 p.Q64E 0.013 NULL NULL - no_errors LCE3C HGNC ENSG00000244057 tier1 - - 30 0 0.00 16 29 64.44 LCN15 0 genome.wustl.edu 37 9 139658513 139658513 + RNA SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 139658513 139658513 C A SNP LCN15 ENST00000482511 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors LCN15 HGNC ENSG00000177984 tier1 - - 17 0 0.00 10 5 33.33 LDHAL6CP 0 genome.wustl.edu 37 12 63398598 63398598 + RNA SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 63398598 63398598 C T SNP LDHAL6CP ENST00000550738 human ensembl 74_37 +1 known rna NULL NULL 0.552 - - - no_errors LDHAL6CP HGNC ENSG00000250517 tier1 - - 21 0 0.00 15 7 31.82 LDLRAD2 0 genome.wustl.edu 37 1 22148534 22148534 + RNA SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 22148534 22148534 C G SNP LDLRAD2 ENST00000484271 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors LDLRAD2 HGNC ENSG00000187942 tier1 - - 30 0 0.00 9 4 30.77 LETM2 0 genome.wustl.edu 37 8 38251658 38251658 + Missense_Mutation SNP A A G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 8 38251658 38251658 A G SNP LETM2 ENST00000379957 human ensembl 74_37 +1 known missense c.544 p.M182V 0.997 pfam_LETM1 pfam_LETM1 - no_errors LETM2 HGNC ENSG00000165046 tier1 - - 89 0 0.00 49 17 25.76 LILRB4 0 genome.wustl.edu 37 19 55175698 55175698 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 55175698 55175698 C T SNP LILRB4 ENST00000270452 human ensembl 74_37 +1 known silent c.417 p.S139 0.005 pfam_Immunoglobulin,pfscan_Ig-like_dom pfam_Immunoglobulin,pfscan_Ig-like_dom - no_errors LILRB4 HGNC ENSG00000186818 tier1 - - 126 0 0.00 106 15 12.40 LINC00029 0 genome.wustl.edu 37 20 61665989 61665989 + RNA SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 20 61665989 61665989 C T SNP LINC00029 ENST00000370341 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00029 HGNC ENSG00000125514 tier1 - - 51 0 0.00 53 5 8.62 LINC00266-1 0 genome.wustl.edu 37 20 62942674 62942674 + RNA SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 20 62942674 62942674 C G SNP LINC00266-1 ENST00000425473 human ensembl 74_37 +1 known rna NULL NULL 0.232 - - - no_errors LINC00266-1 HGNC ENSG00000149656 tier1 - - 285 0 0.00 296 27 8.33 LNX1 0 genome.wustl.edu 37 4 54373487 54373487 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 4 54373487 54373487 C T SNP LNX1 ENST00000263925 human ensembl 74_37 -1 known missense c.772 p.E258K 0.989 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC ENSG00000072201 tier1 - - 40 0 0.00 41 14 25.45 LOC100130700 0 genome.wustl.edu 37 16 34739560 34739560 + RNA SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 16 34739560 34739560 G A SNP LOC100130700 ENST00000562591 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-80F22.15 Clone_based_vega_gene ENSG00000260857 tier1 - - 40 0 0.00 42 12 22.22 LOC100131825 0 genome.wustl.edu 37 1 159171026 159171026 + RNA SNP T T A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 159171026 159171026 T A SNP LOC100131825 ENST00000415675 human ensembl 74_37 -1 known rna NULL NULL 0.949 - - - no_errors CTA-134P22.2 Clone_based_vega_gene ENSG00000225670 tier1 - - 26 0 0.00 32 8 19.51 LOC100293748 0 genome.wustl.edu 37 1 149262282 149262282 + RNA SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 149262282 149262282 G A SNP LOC100293748 ENST00000325963 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000223779 tier1 - - 220 0 0.00 235 25 9.62 LOC101927648 0 genome.wustl.edu 37 1 143355600 143355600 + RNA SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 143355600 143355600 G A SNP LOC101927648 ENST00000423249 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-435B5.4 Clone_based_vega_gene ENSG00000185044 tier1 - - 47 0 0.00 35 8 18.60 LOC101927648 0 genome.wustl.edu 37 1 143355605 143355605 + RNA SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 143355605 143355605 C T SNP LOC101927648 ENST00000423249 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-435B5.4 Clone_based_vega_gene ENSG00000185044 tier1 - - 47 0 0.00 35 8 18.60 LOC728586 0 genome.wustl.edu 37 5 127039171 127039171 + RNA SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 127039171 127039171 C T SNP LOC728586 ENST00000514853 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors CTC-228N24.1 Clone_based_vega_gene ENSG00000230561 tier1 - - 55 0 0.00 51 12 18.75 LPIN3 0 genome.wustl.edu 37 20 39987112 39987112 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 20 39987112 39987112 G C SNP LPIN3 ENST00000373257 human ensembl 74_37 +1 known missense c.2341 p.E781Q 0.001 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 tier1 rs146490125 - 11 0 0.00 11 4 26.67 LPL 0 genome.wustl.edu 37 8 19813423 19813423 + Nonsense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 8 19813423 19813423 G T SNP LPL ENST00000311322 human ensembl 74_37 +1 known nonsense c.847 p.E283* 1.000 pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,tigrfam_Lipo_Lipase pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,prints_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase - no_errors LPL HGNC ENSG00000175445 42 0 0.00 33 2 5.71 LPPR4 0 genome.wustl.edu 37 1 99771566 99771566 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 99771566 99771566 G A SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known missense c.1292 p.R431K 1.000 NULL 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 - - 29 0 0.00 29 19 39.58 LRIF1 0 genome.wustl.edu 37 1 111493959 111493959 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 111493959 111493959 G T SNP LRIF1 ENST00000369763 human ensembl 74_37 -1 known missense c.1547 p.A516E 1.000 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 tier1 - - 42 0 0.00 65 4 5.80 LRP2BP 0 genome.wustl.edu 37 4 186291869 186291869 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 4 186291869 186291869 G C SNP LRP2BP ENST00000362004 human ensembl 74_37 -1 known missense c.909 p.F303L 1.000 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,pfam_TPR_2,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors LRP2BP HGNC ENSG00000109771 tier1 - - 39 0 0.00 53 17 24.29 LRPPRC 0 genome.wustl.edu 37 2 44190798 44190798 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 44190798 44190798 C G SNP LRPPRC ENST00000260665 human ensembl 74_37 -1 known missense c.1417 p.D473H 0.551 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 tier1 - - 51 0 0.00 42 6 12.50 LRRC32 0 genome.wustl.edu 37 11 76370959 76370959 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 76370959 76370959 C T SNP LRRC32 ENST00000260061 human ensembl 74_37 -1 known missense c.1678 p.E560K 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ 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 - - 38 0 0.00 33 7 17.50 LRSAM1 0 genome.wustl.edu 37 9 130265075 130265075 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 130265075 130265075 G A SNP LRSAM1 ENST00000300417 human ensembl 74_37 +1 known missense c.2069 p.C690Y 1.000 pfscan_Znf_RING pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 tier1 - - 54 0 0.00 49 8 14.04 LRTM2 0 genome.wustl.edu 37 12 1944589 1944590 + RNA DEL AC AC - TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 1944589 1944590 AC - DEL LRTM2 ENST00000543730 human ensembl 74_37 +1 putative rna NULL NULL 0.001:0.002 - - - no_errors LRTM2 HGNC ENSG00000166159 tier1 14 0 0.00 8 2 20.00 LYN 0 genome.wustl.edu 37 8 56912040 56912040 + Missense_Mutation SNP A A C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 8 56912040 56912040 A C SNP LYN ENST00000519728 human ensembl 74_37 +1 known missense c.1268 p.K423T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LYN HGNC ENSG00000254087 tier1 - - 100 0 0.00 100 13 11.50 LYPD4 0 genome.wustl.edu 37 19 42343053 42343053 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 42343053 42343053 C T SNP LYPD4 ENST00000330743 human ensembl 74_37 -1 known missense c.113 p.R38K 0.998 NULL pfam_LY6_UPAR - no_errors LYPD4 HGNC ENSG00000183103 tier1 - - 37 0 0.00 19 8 29.63 MACF1 0 genome.wustl.edu 37 1 39800706 39800706 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 39800706 39800706 C G SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative missense c.8557 p.Q2853E 0.000 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 76 0 0.00 70 9 11.39 MACROD2 0 genome.wustl.edu 37 20 14830786 14830786 + RNA SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 20 14830786 14830786 C G SNP MACROD2 ENST00000497992 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MACROD2 HGNC ENSG00000172264 tier1 - - 31 0 0.00 17 14 45.16 MAOB 0 genome.wustl.edu 37 X 43661490 43661490 + Nonsense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 X 43661490 43661490 C T SNP MAOB ENST00000378069 human ensembl 74_37 -1 known nonsense c.405 p.W135* 1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors MAOB HGNC ENSG00000069535 tier1 - - 12 0 0.00 11 8 42.11 MC4R 0 genome.wustl.edu 37 18 58038944 58038944 + Silent SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 18 58038944 58038944 G C SNP MC4R ENST00000299766 human ensembl 74_37 -1 known silent c.639 p.V213 0.988 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Cnbnoid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt - no_errors MC4R HGNC ENSG00000166603 tier1 - - 33 0 0.00 10 9 47.37 MECOM 0 genome.wustl.edu 37 3 169099121 169099121 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 169099121 169099121 G C SNP MECOM ENST00000494292 human ensembl 74_37 -1 known missense c.229 p.P77A 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 tier1 - - 58 0 0.00 44 16 26.67 MECP2 0 genome.wustl.edu 37 X 153295862 153295862 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 X 153295862 153295862 C G SNP MECP2 ENST00000303391 human ensembl 74_37 -1 known missense c.1417 p.E473Q 1.000 pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 tier1 - - 51 0 0.00 33 9 21.43 MED19 0 genome.wustl.edu 37 11 57472496 57472496 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 57472496 57472496 G C SNP MED19 ENST00000431606 human ensembl 74_37 -1 known missense c.423 p.F141L 0.999 pfam_Mediator_Med19_met pfam_Mediator_Med19_met,pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors MED19 HGNC ENSG00000156603 tier1 - - 49 0 0.00 42 14 25.00 MERTK 0 genome.wustl.edu 37 2 112779081 112779081 + Missense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 112779081 112779081 C A SNP MERTK ENST00000295408 human ensembl 74_37 +1 known missense c.2272 p.R758S 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC ENSG00000153208 tier1 - - 31 0 0.00 32 4 11.11 MIR1912 0 genome.wustl.edu 37 X 113886032 113886032 + RNA SNP T T C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 X 113886032 113886032 T C SNP MIR1912 ENST00000410389 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR1912 HGNC ENSG00000222321 tier1 - - 27 0 0.00 20 32 61.54 MIR21 0 genome.wustl.edu 37 17 57918648 57918648 + RNA SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 57918648 57918648 G T SNP MIR21 ENST00000362134 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR21 HGNC ENSG00000199004 tier1 - - 35 0 0.00 32 9 21.95 MMP2 0 genome.wustl.edu 37 16 55527132 55527132 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 16 55527132 55527132 G C SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known missense c.1399 p.E467Q 0.997 superfamily_Hemopexin-like_dom pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 tier1 - - 33 0 0.00 20 15 42.86 MN1 0 genome.wustl.edu 37 22 28193043 28193043 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 22 28193043 28193043 C G SNP MN1 ENST00000302326 human ensembl 74_37 -1 known missense c.3489 p.Q1163H 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 tier1 - - 19 0 0.00 13 4 23.53 MNT 0 genome.wustl.edu 37 17 2290288 2290288 + Silent SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 2290288 2290288 C A SNP MNT ENST00000174618 human ensembl 74_37 -1 known silent c.1656 p.V552 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MNT HGNC ENSG00000070444 tier1 - - 51 0 0.00 32 18 36.00 MROH7-TTC4 0 genome.wustl.edu 37 1 55118525 55118525 + Splice_Site SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 55118525 55118525 G T SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known splice_site c.1-1 e1-1 0.651 - - - no_errors MROH7-TTC4 HGNC ENSG00000271723 25 0 0.00 29 3 9.38 MRPL13 0 genome.wustl.edu 37 8 121455468 121455468 + Silent SNP A A G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 8 121455468 121455468 A G SNP MRPL13 ENST00000306185 human ensembl 74_37 -1 known silent c.108 p.S36 0.000 pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,pirsf_Ribosomal_L13,tigrfam_Ribosomal_L13_bac-type pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,pirsf_Ribosomal_L13,tigrfam_Ribosomal_L13_bac-type - no_errors MRPL13 HGNC ENSG00000172172 tier1 - - 61 0 0.00 51 8 13.56 MRPS36 0 genome.wustl.edu 37 5 68524143 68524143 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 68524143 68524143 G A SNP MRPS36 ENST00000256441 human ensembl 74_37 +1 known missense c.223 p.E75K 1.000 NULL NULL - no_errors MRPS36 HGNC ENSG00000134056 tier1 - - 74 0 0.00 57 24 29.63 MT-CO1 0 genome.wustl.edu 37 MT 7332 7332 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 MT 7332 7332 G A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.1429 p.A477T NULL superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 197 0 0.00 44 147 76.96 MT-RNR1 0 genome.wustl.edu 37 MT 1171 1171 + RNA SNP A A G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 MT 1171 1171 A G SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 15 0 0.00 8 10 55.56 MTG1 0 genome.wustl.edu 37 10 135209721 135209721 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 10 135209721 135209721 C G SNP MTG1 ENST00000317502 human ensembl 74_37 +1 known missense c.232 p.H78D 1.000 superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF pfam_GTP_binding_domain,superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF - no_errors MTG1 HGNC ENSG00000148824 tier1 - - 59 0 0.00 61 13 17.33 MUC17 0 genome.wustl.edu 37 7 100685190 100685190 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 100685190 100685190 C G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.10493 p.S3498C 0.013 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 62 0 0.00 31 15 32.61 MUC17 0 genome.wustl.edu 37 7 100685292 100685292 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 100685292 100685292 C G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.10595 p.S3532C 0.014 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 64 0 0.00 48 13 21.31 MXD3 0 genome.wustl.edu 37 5 176734640 176734640 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 176734640 176734640 G A SNP MXD3 ENST00000423571 human ensembl 74_37 -1 putative missense c.647 p.S216L 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MXD3 HGNC ENSG00000213347 tier1 - - 69 0 0.00 48 12 20.00 MYBPC1 0 genome.wustl.edu 37 12 102061578 102061578 + Missense_Mutation SNP A A G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 102061578 102061578 A G SNP MYBPC1 ENST00000361466 human ensembl 74_37 +1 known missense c.2425 p.T809A 0.211 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC1 HGNC ENSG00000196091 tier1 - - 49 0 0.00 42 11 20.75 MYCBP2 0 genome.wustl.edu 37 13 77671764 77671764 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 13 77671764 77671764 G C SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.9525 p.I3175M 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 tier1 - - 47 0 0.00 51 16 23.53 MYO1D 0 genome.wustl.edu 37 17 30981621 30981621 + Silent SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 30981621 30981621 G T SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known silent c.2364 p.L788 0.996 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 tier1 - - 22 0 0.00 20 10 33.33 MYO5C 0 genome.wustl.edu 37 15 52527916 52527916 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 15 52527916 52527916 C T SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known silent c.2913 p.Q971 0.994 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 tier1 - - 36 0 0.00 27 13 32.50 MYOM1 0 genome.wustl.edu 37 18 3131469 3131469 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 18 3131469 3131469 C G SNP MYOM1 ENST00000356443 human ensembl 74_37 -1 known missense c.2410 p.G804R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 44 0 0.00 35 2 5.41 MYPN 0 genome.wustl.edu 37 10 69866502 69866502 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 10 69866502 69866502 G C SNP MYPN ENST00000354393 human ensembl 74_37 +1 known missense c.21 p.K7N 0.998 smart_Ig_sub 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 - - 55 0 0.00 46 21 31.34 NANS 0 genome.wustl.edu 37 9 100839226 100839226 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 100839226 100839226 G A SNP NANS ENST00000210444 human ensembl 74_37 +1 known silent c.375 p.L125 1.000 pfam_Neu5Ac_N pfam_Neu5Ac_N,pfam_SAF,superfamily_AFP_Neu5c_C,smart_SAF,pfscan_AFP_Neu5c_C,prints_Antifreeze_III - no_errors NANS HGNC ENSG00000095380 tier1 - - 87 0 0.00 79 35 30.70 NAP1L6 0 genome.wustl.edu 37 X 72347515 72347515 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 X 72347515 72347515 C T SNP NAP1L6 ENST00000373518 human ensembl 74_37 -1 known silent c.207 p.L69 0.321 pfam_NAP_family pfam_NAP_family - no_errors NAP1L6 HGNC ENSG00000204118 tier1 - - 22 0 0.00 25 10 28.57 NCAM2 0 genome.wustl.edu 37 21 22696804 22696804 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 21 22696804 22696804 G T SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.721 p.A241S 0.080 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 tier1 - - 140 0 0.00 141 13 8.44 NCF1B 0 genome.wustl.edu 37 7 72639953 72639953 + RNA SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 72639953 72639953 G A SNP NCF1B ENST00000432102 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors NCF1B HGNC ENSG00000182487 95 0 0.00 72 6 7.69 NCKAP1L 0 genome.wustl.edu 37 12 54905766 54905766 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 54905766 54905766 C G SNP NCKAP1L ENST00000293373 human ensembl 74_37 +1 known missense c.818 p.S273C 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 tier1 - - 51 0 0.00 54 13 19.40 NCKAP5L 0 genome.wustl.edu 37 12 50186476 50186476 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 50186476 50186476 C G SNP NCKAP5L ENST00000335999 human ensembl 74_37 -1 known missense c.3634 p.E1212Q 0.558 NULL NULL - no_errors NCKAP5L HGNC ENSG00000167566 tier1 - - 23 0 0.00 16 7 30.43 NDUFB8 0 genome.wustl.edu 37 10 102283650 102283650 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 10 102283650 102283650 C G SNP NDUFB8 ENST00000299166 human ensembl 74_37 -1 known missense c.505 p.E169Q 1.000 pfam_NDUFB8,pirsf_NADH_UbQ_OxRdtase_b-cplx_su8 pfam_NDUFB8,pirsf_NADH_UbQ_OxRdtase_b-cplx_su8 - no_errors NDUFB8 HGNC ENSG00000166136 tier1 - - 41 0 0.00 38 11 22.45 NEDD4 0 genome.wustl.edu 37 15 56208246 56208246 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 15 56208246 56208246 G T SNP NEDD4 ENST00000508342 human ensembl 74_37 -1 known missense c.784 p.R262S 1.000 NULL pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors NEDD4 HGNC ENSG00000069869 47 0 0.00 34 2 5.56 NHS 0 genome.wustl.edu 37 X 17745851 17745851 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 X 17745851 17745851 G C SNP NHS ENST00000380060 human ensembl 74_37 +1 known missense c.3562 p.E1188Q 0.312 NULL NULL - no_errors NHS HGNC ENSG00000188158 tier1 - - 14 0 0.00 9 13 59.09 NKD2 0 genome.wustl.edu 37 5 1033539 1033539 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 1033539 1033539 C T SNP NKD2 ENST00000296849 human ensembl 74_37 +1 known silent c.255 p.L85 0.000 NULL pfscan_EF_hand_dom - no_errors NKD2 HGNC ENSG00000145506 tier1 - - 52 0 0.00 109 62 36.26 NOX4 0 genome.wustl.edu 37 11 89135696 89135696 + Missense_Mutation SNP T T A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 89135696 89135696 T A SNP NOX4 ENST00000413594 human ensembl 74_37 -1 known missense c.707 p.Y236F 1.000 NULL pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX4 HGNC ENSG00000086991 tier1 - - 41 0 0.00 50 15 23.08 NPAP1 0 genome.wustl.edu 37 15 24921665 24921665 + Silent SNP A A T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 15 24921665 24921665 A T SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known silent c.651 p.S217 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 - - 24 0 0.00 41 11 21.15 NSMF 0 genome.wustl.edu 37 9 140344061 140344061 + Silent SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 140344061 140344061 G C SNP NSMF ENST00000371475 human ensembl 74_37 -1 known silent c.1485 p.L495 0.999 NULL superfamily_P-loop_NTPase - no_errors NSMF HGNC ENSG00000165802 tier1 - - 77 0 0.00 50 20 28.57 NUAK2 0 genome.wustl.edu 37 1 205290713 205290713 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 205290713 205290713 G C SNP NUAK2 ENST00000367157 human ensembl 74_37 -1 known missense c.44 p.S15W 0.113 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK2 HGNC ENSG00000163545 9 0 0.00 12 3 20.00 OGDH 0 genome.wustl.edu 37 7 44664045 44664045 + Nonsense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 44664045 44664045 C T SNP OGDH ENST00000222673 human ensembl 74_37 +1 known nonsense c.103 p.Q35* 1.000 pirsf_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 tier1 - - 77 0 0.00 75 27 26.47 OPA1 0 genome.wustl.edu 37 3 193409893 193409893 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 193409893 193409893 G C SNP OPA1 ENST00000361510 human ensembl 74_37 +1 known missense c.3025 p.E1009Q 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF - no_errors OPA1 HGNC ENSG00000198836 tier1 - - 153 0 0.00 125 23 15.54 OPLAH 0 genome.wustl.edu 37 8 145113708 145113708 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 8 145113708 145113708 G A SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known silent c.555 p.R185 0.992 pfam_Hydant_A_N pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 tier1 - - 62 0 0.00 42 7 14.29 OR11L1 0 genome.wustl.edu 37 1 248004879 248004879 + Missense_Mutation SNP A A C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 248004879 248004879 A C SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known missense c.320 p.L107R 0.301 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 tier1 - - 29 0 0.00 14 5 26.32 OR1C1 0 genome.wustl.edu 37 1 247920874 247920874 + Missense_Mutation SNP A A T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 247920874 247920874 A T SNP OR1C1 ENST00000408896 human ensembl 74_37 -1 known missense c.835 p.S279T 0.002 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 OR1C1 HGNC ENSG00000221888 tier1 - - 30 0 0.00 23 5 17.86 OR3A3 0 genome.wustl.edu 37 17 3324821 3324821 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 3324821 3324821 G A SNP OR3A3 ENST00000291231 human ensembl 74_37 +1 known silent c.960 p.L320 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR3A3 HGNC ENSG00000159961 tier1 - - 42 0 0.00 23 19 45.24 OR4C3 0 genome.wustl.edu 37 11 48346987 48346987 + Silent SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 48346987 48346987 C G SNP OR4C3 ENST00000319856 human ensembl 74_37 +1 known silent c.495 p.L165 0.270 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 OR4C3 HGNC ENSG00000176547 tier1 - - 42 0 0.00 40 5 11.11 OR51S1 0 genome.wustl.edu 37 11 4870196 4870196 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 4870196 4870196 C G SNP OR51S1 ENST00000322101 human ensembl 74_37 -1 known missense c.243 p.L81F 0.055 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51S1 HGNC ENSG00000176922 15 0 0.00 35 3 7.89 OR5D13 0 genome.wustl.edu 37 11 55541134 55541134 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 55541134 55541134 G T SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.221 p.C74F 0.154 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 OR5D13 HGNC ENSG00000198877 36 0 0.00 46 3 6.12 OR5I1 0 genome.wustl.edu 37 11 55703532 55703532 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 55703532 55703532 G A SNP OR5I1 ENST00000301532 human ensembl 74_37 -1 known silent c.345 p.F115 0.031 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 OR5I1 HGNC ENSG00000167825 tier1 - - 44 0 0.00 36 15 29.41 OR7C2 0 genome.wustl.edu 37 19 15052578 15052578 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 15052578 15052578 C G SNP OR7C2 ENST00000248072 human ensembl 74_37 +1 known missense c.278 p.T93S 0.005 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7C2 HGNC ENSG00000127529 tier1 - - 59 0 0.00 27 15 35.71 OR8K3 0 genome.wustl.edu 37 11 56085848 56085848 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 56085848 56085848 G C SNP OR8K3 ENST00000312711 human ensembl 74_37 +1 known missense c.66 p.E22D 0.380 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K3 HGNC ENSG00000181689 tier1 - - 45 0 0.00 40 17 29.82 OR8K3 0 genome.wustl.edu 37 11 56086442 56086442 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 56086442 56086442 C T SNP OR8K3 ENST00000312711 human ensembl 74_37 +1 known silent c.660 p.L220 0.001 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 OR8K3 HGNC ENSG00000181689 35 0 0.00 40 4 9.09 OSR2 0 genome.wustl.edu 37 8 99961177 99961177 + Silent SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 8 99961177 99961177 G C SNP OSR2 ENST00000457907 human ensembl 74_37 +1 known silent c.360 p.R120 0.835 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR2 HGNC ENSG00000164920 tier1 - - 35 0 0.00 25 6 18.75 OXCT2 0 genome.wustl.edu 37 1 40236869 40236869 + Nonsense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 40236869 40236869 G C SNP OXCT2 ENST00000327582 human ensembl 74_37 -1 known nonsense c.59 p.S20* 0.001 NULL pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT2 HGNC ENSG00000198754 9 0 0.00 5 3 37.50 OXSR1 0 genome.wustl.edu 37 3 38240282 38240282 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 38240282 38240282 C G SNP OXSR1 ENST00000311806 human ensembl 74_37 +1 known missense c.362 p.S121C 0.956 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,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors OXSR1 HGNC ENSG00000172939 tier1 - - 94 0 0.00 45 19 29.69 PAPD4 0 genome.wustl.edu 37 5 78940966 78940966 + Missense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 78940966 78940966 C A SNP PAPD4 ENST00000296783 human ensembl 74_37 +1 known missense c.772 p.Q258K 1.000 NULL pfam_PAP_assoc - no_errors PAPD4 HGNC ENSG00000164329 tier1 - - 78 0 0.00 52 9 14.75 PCDHGA1 0 genome.wustl.edu 37 5 140710522 140710522 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 140710522 140710522 G C SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known missense c.271 p.D91H 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 tier1 - - 29 0 0.00 27 5 15.62 PCDHGA3 0 genome.wustl.edu 37 5 140723799 140723799 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 140723799 140723799 G A SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known missense c.199 p.V67I 0.964 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 tier1 - - 51 0 0.00 34 6 15.00 PCDHGA9 0 genome.wustl.edu 37 5 140783516 140783516 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 140783516 140783516 G C SNP PCDHGA9 ENST00000573521 human ensembl 74_37 +1 known missense c.997 p.V333L 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 tier1 - - 59 0 0.00 28 4 12.50 PCDHGB7 0 genome.wustl.edu 37 5 140798107 140798107 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 140798107 140798107 G C SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known missense c.681 p.Q227H 0.981 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 tier1 - - 83 0 0.00 57 7 10.94 PCK1 0 genome.wustl.edu 37 20 56138676 56138676 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 20 56138676 56138676 C T SNP PCK1 ENST00000319441 human ensembl 74_37 +1 known missense c.854 p.P285L 1.000 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK1 HGNC ENSG00000124253 tier1 - - 40 0 0.00 46 6 11.54 PCYT1A 0 genome.wustl.edu 37 3 195984695 195984695 + Missense_Mutation SNP T T C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 195984695 195984695 T C SNP PCYT1A ENST00000292823 human ensembl 74_37 -1 known missense c.181 p.R61G 1.000 NULL pfam_Cyt_trans-like,superfamily_NA-bd_OB-fold,tigrfam_Cyt_trans-like - no_errors PCYT1A HGNC ENSG00000161217 tier1 - - 89 0 0.00 65 22 25.29 PDGFA 0 genome.wustl.edu 37 7 550466 550466 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 550466 550466 C T SNP PDGFA ENST00000354513 human ensembl 74_37 -1 known missense c.433 p.V145I 0.704 pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFA HGNC ENSG00000197461 24 0 0.00 30 11 26.83 PDLIM2 0 genome.wustl.edu 37 8 22451274 22451274 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 8 22451274 22451274 C T SNP PDLIM2 ENST00000308354 human ensembl 74_37 +1 known missense c.1660 p.R554W 0.928 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM2 HGNC ENSG00000120913 tier1 rs147368012 - 52 0 0.00 35 8 18.60 PDPN 0 genome.wustl.edu 37 1 13933769 13933769 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 13933769 13933769 G A SNP PDPN ENST00000294489 human ensembl 74_37 +1 known missense c.397 p.E133K 0.000 pfam_Podoplanin pfam_Podoplanin - no_errors PDPN HGNC ENSG00000162493 tier1 - - 52 0 0.00 38 7 15.56 PDS5A 0 genome.wustl.edu 37 4 39891930 39891930 + Nonsense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 4 39891930 39891930 C A SNP PDS5A ENST00000303538 human ensembl 74_37 -1 known nonsense c.1825 p.E609* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 tier1 - - 68 0 0.00 94 30 24.19 PFKM 0 genome.wustl.edu 37 12 48531621 48531621 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 48531621 48531621 G A SNP PFKM ENST00000312352 human ensembl 74_37 +1 known missense c.1054 p.V352I 1.000 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 PFKM HGNC ENSG00000152556 tier1 - - 32 0 0.00 36 5 12.20 PGAP1 0 genome.wustl.edu 37 2 197777708 197777708 + Silent SNP A A G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 197777708 197777708 A G SNP PGAP1 ENST00000354764 human ensembl 74_37 -1 known silent c.547 p.L183 0.981 pfam_PGAP1-like pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 tier1 - - 44 0 0.00 36 18 33.33 PGBD2 0 genome.wustl.edu 37 1 249211387 249211387 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 249211387 249211387 G A SNP PGBD2 ENST00000329291 human ensembl 74_37 +1 known missense c.604 p.E202K 1.000 NULL NULL - no_errors PGBD2 HGNC ENSG00000185220 tier1 - - 38 0 0.00 45 14 23.73 PGM2 0 genome.wustl.edu 37 4 37836311 37836311 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 4 37836311 37836311 C T SNP PGM2 ENST00000381967 human ensembl 74_37 +1 known silent c.321 p.A107 0.069 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM2 HGNC ENSG00000169299 tier1 - - 175 0 0.00 178 57 24.26 PHKB 0 genome.wustl.edu 37 16 47683022 47683022 + Missense_Mutation SNP T T G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 16 47683022 47683022 T G SNP PHKB ENST00000299167 human ensembl 74_37 +1 known missense c.1704 p.I568M 0.996 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 tier1 - - 76 0 0.00 85 12 12.37 PIGK 0 genome.wustl.edu 37 1 77676165 77676165 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 77676165 77676165 C G SNP PIGK ENST00000370812 human ensembl 74_37 -1 known missense c.103 p.E35Q 1.000 NULL pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors PIGK HGNC ENSG00000142892 tier1 - - 143 0 0.00 144 32 17.98 PIK3CA 0 genome.wustl.edu 37 3 178952074 178952074 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 178952074 178952074 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.3129 p.M1043I 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 - - 43 0 0.00 18 11 36.67 PISD 0 genome.wustl.edu 37 22 32021682 32021682 + RNA SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 22 32021682 32021682 G C SNP PISD ENST00000478893 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors PISD HGNC ENSG00000241878 tier1 - - 100 0 0.00 68 20 22.47 PLEK 0 genome.wustl.edu 37 2 68620294 68620294 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 68620294 68620294 G A SNP PLEK ENST00000234313 human ensembl 74_37 +1 known missense c.763 p.G255R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology - no_errors PLEK HGNC ENSG00000115956 tier1 - - 79 0 0.00 45 31 40.79 PLEKHA8P1 0 genome.wustl.edu 37 12 45567423 45567423 + RNA SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 45567423 45567423 C T SNP PLEKHA8P1 ENST00000256692 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 tier1 - - 51 0 0.00 71 16 18.39 PLEKHH2 0 genome.wustl.edu 37 2 43924327 43924327 + Missense_Mutation SNP T T G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 43924327 43924327 T G SNP PLEKHH2 ENST00000282406 human ensembl 74_37 +1 known missense c.520 p.S174A 0.017 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 tier1 - - 72 0 0.00 94 13 12.15 PLOD1 0 genome.wustl.edu 37 1 12012751 12012751 + Nonsense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 12012751 12012751 C T SNP PLOD1 ENST00000376369 human ensembl 74_37 +1 known nonsense c.679 p.Q227* 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 tier1 - - 45 0 0.00 33 20 37.74 PLOD1 0 genome.wustl.edu 37 1 12012771 12012771 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 12012771 12012771 C G SNP PLOD1 ENST00000376369 human ensembl 74_37 +1 known missense c.699 p.I233M 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 tier1 - - 39 0 0.00 21 17 44.74 PLXNA2 0 genome.wustl.edu 37 1 208213028 208213028 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 208213028 208213028 C T SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.4438 p.E1480K 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 43 0 0.00 32 5 13.51 PMPCA 0 genome.wustl.edu 37 9 139310748 139310748 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 139310748 139310748 G C SNP PMPCA ENST00000371717 human ensembl 74_37 +1 known missense c.538 p.E180Q 0.996 pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors PMPCA HGNC ENSG00000165688 tier1 - - 9 0 0.00 22 9 29.03 PMS2CL 0 genome.wustl.edu 37 7 6750417 6750417 + RNA SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 6750417 6750417 G T SNP PMS2CL ENST00000486256 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PMS2CL HGNC ENSG00000187953 tier1 - - 53 0 0.00 59 5 7.81 PNLIPRP2 0 genome.wustl.edu 37 10 118383542 118383542 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 10 118383542 118383542 C T SNP PNLIPRP2 ENST00000537242 human ensembl 74_37 +1 known missense c.136 p.P46S 0.997 pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,prints_Lipase_panc pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase,pfscan_PLAT/LH2_dom - no_errors PNLIPRP2 HGNC ENSG00000165862 tier1 - - 79 0 0.00 66 9 12.00 POGZ 0 genome.wustl.edu 37 1 151377628 151377628 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 151377628 151377628 C G SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.3883 p.D1295H 0.980 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 tier1 - - 23 0 0.00 23 14 37.84 POLDIP3 0 genome.wustl.edu 37 22 42992255 42992255 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 22 42992255 42992255 C G SNP POLDIP3 ENST00000252115 human ensembl 74_37 -1 known missense c.750 p.L250F 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors POLDIP3 HGNC ENSG00000100227 tier1 - - 46 0 0.00 26 20 43.48 POLE 0 genome.wustl.edu 37 12 133226308 133226308 + Silent SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 133226308 133226308 G T SNP POLE ENST00000320574 human ensembl 74_37 -1 known silent c.3750 p.P1250 1.000 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 33 0 0.00 32 3 8.57 POLQ 0 genome.wustl.edu 37 3 121207808 121207808 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 121207808 121207808 G C SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.3970 p.L1324V 0.977 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 tier1 - - 50 0 0.00 30 13 30.23 POLR1B 0 genome.wustl.edu 37 2 113331138 113331138 + Splice_Site SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 113331138 113331138 G A SNP POLR1B ENST00000541869 human ensembl 74_37 +1 known splice_site c.2386-1 e15-1 1.000 - - - no_errors POLR1B HGNC ENSG00000125630 tier1 - - 40 0 0.00 44 12 21.43 POM121L2 0 genome.wustl.edu 37 6 27278167 27278167 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 27278167 27278167 G C SNP POM121L2 ENST00000444565 human ensembl 74_37 -1 known missense c.1783 p.P595A 0.000 NULL NULL - no_errors POM121L2 HGNC ENSG00000158553 15 0 0.00 21 3 12.50 PPARD 0 genome.wustl.edu 37 6 35392450 35392450 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 35392450 35392450 C T SNP PPARD ENST00000311565 human ensembl 74_37 +1 known silent c.972 p.F324 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A - no_errors PPARD HGNC ENSG00000112033 tier1 - - 37 0 0.00 14 6 30.00 PPARG 0 genome.wustl.edu 37 3 12447448 12447448 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 12447448 12447448 C T SNP PPARG ENST00000287820 human ensembl 74_37 +1 known silent c.687 p.I229 1.000 prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARG HGNC ENSG00000132170 tier1 - - 28 0 0.00 30 13 30.23 PPL 0 genome.wustl.edu 37 16 4949116 4949116 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 16 4949116 4949116 G C SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.774 p.F258L 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 tier1 - - 36 0 0.00 35 12 25.53 PPP2R2B 0 genome.wustl.edu 37 5 145972589 145972589 + Missense_Mutation SNP A A G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 145972589 145972589 A G SNP PPP2R2B ENST00000394414 human ensembl 74_37 -1 known missense c.1195 p.Y399H 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2B HGNC ENSG00000156475 tier1 - - 40 0 0.00 40 9 18.37 PRDM1 0 genome.wustl.edu 37 6 106553015 106553015 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 106553015 106553015 C G SNP PRDM1 ENST00000369096 human ensembl 74_37 +1 known missense c.980 p.S327C 0.998 pirsf_Znf_PRDM1 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC ENSG00000057657 tier1 - - 19 0 0.00 14 6 30.00 PRDM10 0 genome.wustl.edu 37 11 129794884 129794884 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 129794884 129794884 C G SNP PRDM10 ENST00000358825 human ensembl 74_37 -1 known missense c.1783 p.E595Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 tier1 - - 37 0 0.00 29 8 21.62 PRDM8 0 genome.wustl.edu 37 4 81123144 81123144 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 4 81123144 81123144 C T SNP PRDM8 ENST00000339711 human ensembl 74_37 +1 known silent c.528 p.F176 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM8 HGNC ENSG00000152784 tier1 - - 33 0 0.00 22 4 15.38 PRDM9 0 genome.wustl.edu 37 5 23527657 23527657 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 23527657 23527657 C T SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known silent c.2460 p.L820 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 tier1 - - 63 0 0.00 92 12 11.54 PREPL 0 genome.wustl.edu 37 2 44586684 44586684 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 44586684 44586684 C T SNP PREPL ENST00000260648 human ensembl 74_37 -1 known silent c.171 p.K57 1.000 NULL pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A - no_errors PREPL HGNC ENSG00000138078 tier1 - - 92 0 0.00 64 13 16.88 PREX2 0 genome.wustl.edu 37 8 69103972 69103972 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 8 69103972 69103972 C G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.4362 p.D1454E 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,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 PREX2 HGNC ENSG00000046889 tier1 - - 75 0 0.00 59 12 16.90 PRG4 0 genome.wustl.edu 37 1 186275881 186275881 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 186275881 186275881 C G SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.1030 p.L344V 0.003 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 tier1 - - 102 0 0.00 113 23 16.91 PRRC1 0 genome.wustl.edu 37 5 126887539 126887539 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 126887539 126887539 G C SNP PRRC1 ENST00000512635 human ensembl 74_37 +1 known missense c.1269 p.Q423H 1.000 NULL pfam_NTPase/PRRC1 - no_errors PRRC1 HGNC ENSG00000164244 tier1 - - 34 0 0.00 21 4 16.00 PRRT1 0 genome.wustl.edu 37 6 32119859 32119859 + RNA SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 32119859 32119859 C G SNP PRRT1 ENST00000486917 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors PRRT1 HGNC ENSG00000204314 tier1 - - 34 0 0.00 19 13 40.62 PRRX1 0 genome.wustl.edu 37 1 170688965 170688965 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 170688965 170688965 G C SNP PRRX1 ENST00000239461 human ensembl 74_37 +1 known missense c.340 p.E114Q 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PRRX1 HGNC ENSG00000116132 tier1 - - 32 0 0.00 34 11 24.44 PSMA5 0 genome.wustl.edu 37 1 109955703 109955703 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 109955703 109955703 C G SNP PSMA5 ENST00000271308 human ensembl 74_37 -1 known missense c.278 p.R93T 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA5 HGNC ENSG00000143106 tier1 - - 53 0 0.00 47 14 22.95 PTCHD2 0 genome.wustl.edu 37 1 11561424 11561424 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 11561424 11561424 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known silent c.375 p.A125 0.924 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 tier1 - - 38 0 0.00 41 7 14.58 PTK2B 0 genome.wustl.edu 37 8 27290985 27290985 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 8 27290985 27290985 G T SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known missense c.1021 p.A341S 1.000 pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 tier1 - - 38 0 0.00 29 4 12.12 PTPDC1 0 genome.wustl.edu 37 9 96870182 96870182 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 96870182 96870182 G C SNP PTPDC1 ENST00000375360 human ensembl 74_37 +1 known missense c.2221 p.E741Q 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTPDC1 HGNC ENSG00000158079 tier1 - - 96 0 0.00 77 19 19.79 PTPRK 0 genome.wustl.edu 37 6 128388853 128388853 + Silent SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 128388853 128388853 G T SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known silent c.1968 p.V656 0.960 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 tier1 - - 34 0 0.00 39 9 18.75 PTRH1 0 genome.wustl.edu 37 9 130457332 130457333 + RNA INS - - TGA TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 130457332 130457333 - TGA INS PTRH1 ENST00000335223 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors PTRH1 HGNC ENSG00000187024 tier1 13 0 0.00 12 5 29.41 RAB3IL1 0 genome.wustl.edu 37 11 61674023 61674023 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 61674023 61674023 C T SNP RAB3IL1 ENST00000394836 human ensembl 74_37 -1 known missense c.572 p.R191H 0.996 NULL pfam_Sec2p - no_errors RAB3IL1 HGNC ENSG00000167994 tier1 - - 57 0 0.00 58 20 25.64 RADIL 0 genome.wustl.edu 37 7 4874538 4874538 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 4874538 4874538 G T SNP RADIL ENST00000445392 human ensembl 74_37 -1 known missense c.1111 p.P371T 0.001 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 tier1 - - 40 0 0.00 61 10 14.08 RAI14 0 genome.wustl.edu 37 5 34821951 34821951 + Missense_Mutation SNP T T C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 34821951 34821951 T C SNP RAI14 ENST00000515799 human ensembl 74_37 +1 known missense c.1118 p.L373S 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 tier1 - - 39 0 0.00 39 9 18.75 RAPGEF6 0 genome.wustl.edu 37 5 130764605 130764605 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 130764605 130764605 G A SNP RAPGEF6 ENST00000509018 human ensembl 74_37 -1 known silent c.4770 p.S1590 1.000 NULL pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 28 0 0.00 19 3 13.64 RASGRF1 0 genome.wustl.edu 37 15 79292148 79292148 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 15 79292148 79292148 C T SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.2731 p.A911T 0.976 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 45 0 0.00 43 3 6.52 RBM6 0 genome.wustl.edu 37 3 50085751 50085751 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 50085751 50085751 G C SNP RBM6 ENST00000266022 human ensembl 74_37 +1 known missense c.1631 p.R544P 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 tier1 - - 55 0 0.00 26 19 42.22 RBM6 0 genome.wustl.edu 37 3 50106179 50106179 + Silent SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 50106179 50106179 G C SNP RBM6 ENST00000266022 human ensembl 74_37 +1 known silent c.3000 p.L1000 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 tier1 - - 141 0 0.00 97 26 21.14 RBPJL 0 genome.wustl.edu 37 20 43942696 43942696 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 20 43942696 43942696 G C SNP RBPJL ENST00000343694 human ensembl 74_37 +1 known missense c.779 p.G260A 0.901 pfam_Beta-trefoil_DNA-bd_dom,superfamily_Beta-trefoil_DNA-bd_dom pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC ENSG00000124232 tier1 - - 61 0 0.00 64 6 8.57 RFX7 0 genome.wustl.edu 37 15 56394372 56394372 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 15 56394372 56394372 C G SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known missense c.598 p.D200H 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 tier1 - - 65 0 0.00 49 10 16.95 RMND5B 0 genome.wustl.edu 37 5 177573128 177573128 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 177573128 177573128 G A SNP RMND5B ENST00000313386 human ensembl 74_37 +1 known missense c.708 p.M236I 1.000 smart_CRA_dom smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RMND5B HGNC ENSG00000145916 tier1 - - 60 0 0.00 35 8 18.60 RNF207 0 genome.wustl.edu 37 1 6266692 6266692 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 6266692 6266692 G C SNP RNF207 ENST00000377939 human ensembl 74_37 +1 novel missense c.97 p.E33Q 0.988 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors RNF207 HGNC ENSG00000158286 tier1 - - 46 0 0.00 25 8 24.24 RPL10L 0 genome.wustl.edu 37 14 47120658 47120658 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 14 47120658 47120658 G C SNP RPL10L ENST00000298283 human ensembl 74_37 -1 known missense c.282 p.F94L 1.000 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10L HGNC ENSG00000165496 tier1 - - 51 0 0.00 41 19 31.67 RPRD2 0 genome.wustl.edu 37 1 150444823 150444823 + Silent SNP A A G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 150444823 150444823 A G SNP RPRD2 ENST00000369068 human ensembl 74_37 +1 known silent c.3399 p.T1133 0.958 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom - no_errors RPRD2 HGNC ENSG00000163125 tier1 - - 39 0 0.00 46 20 30.30 RPS13 0 genome.wustl.edu 37 11 17098993 17098993 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 17098993 17098993 G C SNP RPS13 ENST00000525634 human ensembl 74_37 -1 known missense c.55 p.R19G 1.000 pfam_Ribosomal_S13/S15_N pfam_Ribosomal_S13/S15_N,pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd - no_errors RPS13 HGNC ENSG00000110700 tier1 - - 40 0 0.00 26 11 29.73 RPUSD2 0 genome.wustl.edu 37 15 40864051 40864051 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 15 40864051 40864051 G C SNP RPUSD2 ENST00000315616 human ensembl 74_37 +1 known missense c.855 p.K285N 1.000 pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D - no_errors RPUSD2 HGNC ENSG00000166133 tier1 - - 20 0 0.00 25 8 24.24 RTP4 0 genome.wustl.edu 37 3 187089154 187089154 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 187089154 187089154 C T SNP RTP4 ENST00000259030 human ensembl 74_37 +1 known missense c.734 p.S245L 0.000 NULL NULL - no_errors RTP4 HGNC ENSG00000136514 tier1 - - 41 0 0.00 20 7 25.93 SAT1 0 genome.wustl.edu 37 X 23803555 23803555 + RNA SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 X 23803555 23803555 G C SNP SAT1 ENST00000462639 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SAT1 HGNC ENSG00000130066 tier1 - - 48 0 0.00 37 7 15.91 SCAMP3 0 genome.wustl.edu 37 1 155228738 155228738 + Missense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 155228738 155228738 C A SNP SCAMP3 ENST00000302631 human ensembl 74_37 -1 known missense c.396 p.Q132H 1.000 pfam_SCAMP pfam_SCAMP - no_errors SCAMP3 HGNC ENSG00000116521 tier1 - - 131 0 0.00 98 17 14.78 SCN8A 0 genome.wustl.edu 37 12 52056610 52056610 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 52056610 52056610 G A SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known silent c.9 p.A3 0.915 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 15 0 0.00 8 3 27.27 SEC24A 0 genome.wustl.edu 37 5 134007552 134007552 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 134007552 134007552 G A SNP SEC24A ENST00000398844 human ensembl 74_37 +1 known missense c.793 p.E265K 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 tier1 - - 81 0 0.00 71 15 17.44 SEC61A1 0 genome.wustl.edu 37 3 127774404 127774404 + Missense_Mutation SNP A A C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 127774404 127774404 A C SNP SEC61A1 ENST00000243253 human ensembl 74_37 +1 known missense c.121 p.I41L 1.000 pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A1 HGNC ENSG00000058262 tier1 - - 71 0 0.00 96 18 15.79 SEMA3A 0 genome.wustl.edu 37 7 83634746 83634746 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 83634746 83634746 G C SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known missense c.1269 p.I423M 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 tier1 - - 64 0 0.00 76 14 15.56 SEPT1 0 genome.wustl.edu 37 16 30392739 30392739 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 16 30392739 30392739 C G SNP SEPT1 ENST00000321367 human ensembl 74_37 -1 known missense c.502 p.E168Q 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT1 HGNC ENSG00000180096 tier1 - - 87 0 0.00 63 27 30.00 SEPT14 0 genome.wustl.edu 37 7 55886880 55886880 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 55886880 55886880 C T SNP SEPT14 ENST00000388975 human ensembl 74_37 -1 known missense c.757 p.E253K 0.943 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT14 HGNC ENSG00000154997 tier1 - - 55 0 0.00 42 30 41.67 SEPT7P2 0 genome.wustl.edu 37 7 45788242 45788243 + RNA INS - - T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 45788242 45788243 - T INS SEPT7P2 ENST00000338231 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors SEPT7P2 HGNC ENSG00000214765 tier1 152 0 0.00 129 32 19.88 SF3A1 0 genome.wustl.edu 37 22 30730595 30730595 + Silent SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 22 30730595 30730595 C G SNP SF3A1 ENST00000215793 human ensembl 74_37 -1 known silent c.2370 p.G790 1.000 pfscan_Ubiquitin_supergroup pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup - no_errors SF3A1 HGNC ENSG00000099995 tier1 - - 48 0 0.00 26 9 25.71 SGSM2 0 genome.wustl.edu 37 17 2278855 2278855 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 2278855 2278855 G C SNP SGSM2 ENST00000268989 human ensembl 74_37 +1 known missense c.2170 p.E724Q 0.594 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 tier1 - - 50 0 0.00 25 14 35.90 SHROOM2 0 genome.wustl.edu 37 X 9914723 9914723 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 X 9914723 9914723 G C SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known missense c.4597 p.E1533Q 0.996 pfam_ASD2 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 tier1 - - 11 0 0.00 4 16 80.00 SI 0 genome.wustl.edu 37 3 164700087 164700087 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 164700087 164700087 G A SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.5359 p.L1787 0.000 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 - - 68 0 0.00 64 34 34.69 SIM1 0 genome.wustl.edu 37 6 100838633 100838633 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 100838633 100838633 C G SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known missense c.1905 p.Q635H 0.999 pfam_SIM_C pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 tier1 - - 22 0 0.00 20 4 16.00 SIX4 0 genome.wustl.edu 37 14 61190785 61190785 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 14 61190785 61190785 G C SNP SIX4 ENST00000216513 human ensembl 74_37 -1 known missense c.8 p.S3C 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX4 HGNC ENSG00000100625 9 0 0.00 21 3 12.50 SLC11A2 0 genome.wustl.edu 37 12 51393017 51393017 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 51393017 51393017 C T SNP SLC11A2 ENST00000394904 human ensembl 74_37 -1 known silent c.702 p.R234 1.000 pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A2 HGNC ENSG00000110911 tier1 - - 63 0 0.00 86 7 7.53 SLC12A7 0 genome.wustl.edu 37 5 1085364 1085364 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 1085364 1085364 G A SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known silent c.900 p.F300 0.936 prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 tier1 rs140320673 - 45 0 0.00 116 8 6.35 SLC13A3 0 genome.wustl.edu 37 20 45242144 45242144 + Missense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 20 45242144 45242144 C A SNP SLC13A3 ENST00000279027 human ensembl 74_37 -1 known missense c.332 p.R111L 0.702 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A3 HGNC ENSG00000158296 16 0 0.00 36 2 5.26 SLC19A1 0 genome.wustl.edu 37 21 46932395 46932395 + RNA SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 21 46932395 46932395 C G SNP SLC19A1 ENST00000468508 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors SLC19A1 HGNC ENSG00000173638 tier1 - - 88 0 0.00 61 5 7.46 SLC25A34 0 genome.wustl.edu 37 1 16064389 16064389 + RNA SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 16064389 16064389 C G SNP SLC25A34 ENST00000489568 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC25A34 HGNC ENSG00000162461 tier1 - - 17 0 0.00 8 4 33.33 SLC25A39 0 genome.wustl.edu 37 17 42397473 42397473 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 42397473 42397473 G C SNP SLC25A39 ENST00000377095 human ensembl 74_37 -1 known missense c.976 p.R326G 0.784 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 - no_errors SLC25A39 HGNC ENSG00000013306 tier1 - - 84 0 0.00 39 20 33.90 SLC25A45 0 genome.wustl.edu 37 11 65144518 65144518 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 65144518 65144518 G A SNP SLC25A45 ENST00000398802 human ensembl 74_37 -1 known silent c.369 p.I123 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A45 HGNC ENSG00000162241 tier1 - - 103 0 0.00 80 28 25.93 SLC35G5 0 genome.wustl.edu 37 8 11189620 11189620 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 8 11189620 11189620 G T SNP SLC35G5 ENST00000382435 human ensembl 74_37 +1 known missense c.1005 p.K335N 0.994 NULL pfam_DMT - no_errors SLC35G5 HGNC ENSG00000177710 tier1 - - 89 0 0.00 78 10 11.36 SLC3A1 0 genome.wustl.edu 37 2 44547731 44547731 + Nonsense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 44547731 44547731 C T SNP SLC3A1 ENST00000260649 human ensembl 74_37 +1 known nonsense c.2011 p.R671* 0.637 NULL pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A1 HGNC ENSG00000138079 tier1 - - 21 0 0.00 20 9 31.03 SLC44A5 0 genome.wustl.edu 37 1 75805272 75805272 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 75805272 75805272 G A SNP SLC44A5 ENST00000370855 human ensembl 74_37 -1 known silent c.96 p.A32 0.001 NULL pfam_Choline_transptr-like - no_errors SLC44A5 HGNC ENSG00000137968 tier1 - - 102 0 0.00 84 14 14.29 SLC5A3 0 genome.wustl.edu 37 21 35468289 35468289 + Missense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 21 35468289 35468289 C A SNP SLC5A3 ENST00000381151 human ensembl 74_37 +1 known missense c.792 p.F264L 1.000 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 SLC5A3 HGNC ENSG00000198743 tier1 - - 54 0 0.00 43 11 20.37 SLC6A3 0 genome.wustl.edu 37 5 1432726 1432726 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 1432726 1432726 G T SNP SLC6A3 ENST00000270349 human ensembl 74_37 -1 known missense c.506 p.S169Y 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 tier1 - - 39 0 0.00 125 11 8.09 SLC6A3 0 genome.wustl.edu 37 5 1422047 1422047 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 1422047 1422047 G C SNP SLC6A3 ENST00000270349 human ensembl 74_37 -1 known missense c.736 p.L246V 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 21 0 0.00 102 14 12.07 SLC6A9 0 genome.wustl.edu 37 1 44474228 44474228 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 44474228 44474228 G A SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known silent c.606 p.I202 0.993 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 tier1 - - 30 0 0.00 26 10 27.78 SLC7A9 0 genome.wustl.edu 37 19 33359402 33359402 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 33359402 33359402 C G SNP SLC7A9 ENST00000023064 human ensembl 74_37 -1 known missense c.39 p.E13D 0.796 NULL pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 tier1 - - 25 0 0.00 36 5 12.20 SLCO4A1 0 genome.wustl.edu 37 20 61300307 61300307 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 20 61300307 61300307 C T SNP SLCO4A1 ENST00000217159 human ensembl 74_37 +1 known silent c.1902 p.F634 0.945 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4A1 HGNC ENSG00000101187 tier1 rs201252224 - 74 0 0.00 65 8 10.96 SLCO6A1 0 genome.wustl.edu 37 5 101794130 101794130 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 101794130 101794130 G A SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known silent c.1087 p.L363 0.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 tier1 - - 123 0 0.00 120 18 13.04 SMAD4 0 genome.wustl.edu 37 18 48581229 48581229 + Nonsense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 18 48581229 48581229 C G SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known nonsense c.533 p.S178* 1.000 NULL pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 tier1 - - 34 0 0.00 22 4 15.38 SMARCA2 0 genome.wustl.edu 37 9 2058298 2058298 + Missense_Mutation SNP T T C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 2058298 2058298 T C SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.1355 p.L452P 1.000 pfam_Helicase/SANT-assoc_DNA-bd,smart_HAS_subgr,pfscan_Helicase/SANT-assoc_DNA-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 tier1 - - 55 0 0.00 44 37 45.68 SMG8 0 genome.wustl.edu 37 17 57288495 57288495 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 57288495 57288495 G A SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known silent c.1083 p.V361 0.991 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 tier1 - - 70 0 0.00 43 26 37.68 SMIM11 0 genome.wustl.edu 37 21 35774492 35774492 + RNA DEL T T - TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 21 35774492 35774492 T - DEL SMIM11 ENST00000481710 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SMIM11 HGNC ENSG00000205670 tier1 33 0 0.00 44 9 16.98 SMIM7 0 genome.wustl.edu 37 19 16770258 16770258 + Silent SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 16770258 16770258 C G SNP SMIM7 ENST00000487803 human ensembl 74_37 -1 known silent c.69 p.L23 1.000 NULL NULL - no_errors SMIM7 HGNC ENSG00000214046 24 0 0.00 15 5 25.00 SMPD1 0 genome.wustl.edu 37 11 6411941 6411941 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 6411941 6411941 C T SNP SMPD1 ENST00000342245 human ensembl 74_37 +1 known missense c.113 p.A38V 0.351 pirsf_Sphingomy_PDE pfam_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB - no_errors SMPD1 HGNC ENSG00000166311 tier1 rs78250081 - 16 0 0.00 13 4 23.53 SNX30 0 genome.wustl.edu 37 9 115580089 115580089 + Silent SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 115580089 115580089 C G SNP SNX30 ENST00000374232 human ensembl 74_37 +1 known silent c.453 p.L151 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX30 HGNC ENSG00000148158 tier1 - - 47 0 0.00 40 7 14.89 SNX8 0 genome.wustl.edu 37 7 2317768 2317768 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 2317768 2317768 G A SNP SNX8 ENST00000222990 human ensembl 74_37 -1 known silent c.267 p.F89 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX8 HGNC ENSG00000106266 28 0 0.00 41 4 8.89 SOX11 0 genome.wustl.edu 37 2 5833136 5833136 + Missense_Mutation SNP A A C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 5833136 5833136 A C SNP SOX11 ENST00000322002 human ensembl 74_37 +1 known missense c.283 p.K95Q 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 tier1 - - 49 0 0.00 26 7 21.21 SPEN 0 genome.wustl.edu 37 1 16263970 16263970 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 16263970 16263970 C G SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.10339 p.L3447V 0.993 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 tier1 - - 47 0 0.00 43 9 16.98 SPOCK3 0 genome.wustl.edu 37 4 167713337 167713337 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 4 167713337 167713337 C T SNP SPOCK3 ENST00000357154 human ensembl 74_37 -1 known silent c.702 p.L234 1.000 pfam_SPARC/Testican_Ca-bd-dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK3 HGNC ENSG00000196104 tier1 - - 54 0 0.00 50 18 26.47 SPON1 0 genome.wustl.edu 37 11 14277295 14277295 + RNA SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 14277295 14277295 C T SNP SPON1 ENST00000310358 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPON1 HGNC ENSG00000152268 tier1 - - 38 0 0.00 35 18 33.96 SPRR2E 0 genome.wustl.edu 37 1 153066153 153066153 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 153066153 153066153 C T SNP SPRR2E ENST00000368750 human ensembl 74_37 -1 known silent c.75 p.E25 0.349 NULL NULL - no_errors SPRR2E HGNC ENSG00000203785 tier1 - - 64 0 0.00 83 19 18.63 SPTAN1 0 genome.wustl.edu 37 9 131371527 131371527 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 131371527 131371527 G A SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known silent c.4722 p.A1574 0.084 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 tier1 - - 113 0 0.00 92 27 22.69 SRCIN1 0 genome.wustl.edu 37 17 36719704 36719704 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 36719704 36719704 C T SNP SRCIN1 ENST00000264659 human ensembl 74_37 -1 known missense c.595 p.E199K 1.000 pfam_AIP3_C pfam_AIP3_C - no_errors SRCIN1 HGNC ENSG00000017373 tier1 - - 52 0 0.00 31 19 38.00 SREBF1 0 genome.wustl.edu 37 17 17721640 17721640 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 17721640 17721640 G C SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known missense c.1207 p.L403V 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 tier1 - - 50 0 0.00 11 5 31.25 SRFBP1 0 genome.wustl.edu 37 5 121356415 121356415 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 121356415 121356415 G C SNP SRFBP1 ENST00000339397 human ensembl 74_37 +1 known missense c.985 p.D329H 0.006 NULL pfam_Bud-site_select_BUD22 - no_errors SRFBP1 HGNC ENSG00000151304 tier1 - - 49 0 0.00 45 12 21.05 SRFBP1 0 genome.wustl.edu 37 5 121356424 121356424 + Missense_Mutation SNP A A C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 121356424 121356424 A C SNP SRFBP1 ENST00000339397 human ensembl 74_37 +1 known missense c.994 p.K332Q 0.002 NULL pfam_Bud-site_select_BUD22 - no_errors SRFBP1 HGNC ENSG00000151304 tier1 - - 43 0 0.00 44 11 20.00 SRSF12 0 genome.wustl.edu 37 6 89808431 89808431 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 89808431 89808431 C G SNP SRSF12 ENST00000452027 human ensembl 74_37 -1 known missense c.652 p.D218H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF12 HGNC ENSG00000154548 tier1 - - 77 0 0.00 57 23 28.75 STK11 0 genome.wustl.edu 37 19 1220640 1220640 + Nonsense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 1220640 1220640 C T SNP STK11 ENST00000326873 human ensembl 74_37 +1 known nonsense c.658 p.Q220* 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_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 STK11 HGNC ENSG00000118046 9 0 0.00 6 3 33.33 STK11IP 0 genome.wustl.edu 37 2 220476466 220476466 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 220476466 220476466 C G SNP STK11IP ENST00000456909 human ensembl 74_37 +1 novel missense c.2245 p.P749A 0.000 NULL NULL - no_errors STK11IP HGNC ENSG00000144589 tier1 - - 13 0 0.00 10 6 37.50 STK36 0 genome.wustl.edu 37 2 219557016 219557016 + Nonsense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 219557016 219557016 G T SNP STK36 ENST00000295709 human ensembl 74_37 +1 known nonsense c.1915 p.G639* 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK36 HGNC ENSG00000163482 tier1 - - 19 0 0.00 6 10 62.50 STX1B 0 genome.wustl.edu 37 16 31004737 31004737 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 16 31004737 31004737 G C SNP STX1B ENST00000215095 human ensembl 74_37 -1 known missense c.606 p.I202M 1.000 pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX1B HGNC ENSG00000099365 tier1 - - 27 0 0.00 20 10 33.33 STXBP5L 0 genome.wustl.edu 37 3 120957831 120957831 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 120957831 120957831 G A SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.1198 p.E400K 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 tier1 - - 62 0 0.00 64 20 23.81 SYK 0 genome.wustl.edu 37 9 93607824 93607824 + Nonsense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 93607824 93607824 G T SNP SYK ENST00000375746 human ensembl 74_37 +1 known nonsense c.526 p.E176* 0.305 pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SYK HGNC ENSG00000165025 tier1 - - 65 0 0.00 70 4 5.41 SYNCRIP 0 genome.wustl.edu 37 6 86324929 86324929 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 86324929 86324929 C G SNP SYNCRIP ENST00000369622 human ensembl 74_37 -1 known missense c.1417 p.D473H 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 tier1 - - 76 0 0.00 64 22 25.58 SYNE1 0 genome.wustl.edu 37 6 152730772 152730772 + Silent SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 152730772 152730772 G T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.6303 p.V2101 0.762 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 40 0 0.00 56 3 5.08 TAF15 0 genome.wustl.edu 37 17 34171853 34171853 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 34171853 34171853 G C SNP TAF15 ENST00000588240 human ensembl 74_37 +1 known missense c.1550 p.G517A 1.000 NULL pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors TAF15 HGNC ENSG00000172660 tier1 - - 51 0 0.00 36 6 14.29 TAS1R2 0 genome.wustl.edu 37 1 19166648 19166648 + Silent SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 19166648 19166648 G T SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel silent c.1965 p.I655 0.968 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 tier1 - - 23 0 0.00 22 14 38.89 TBC1D20 0 genome.wustl.edu 37 20 418412 418412 + RNA SNP T T C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 20 418412 418412 T C SNP TBC1D20 ENST00000461188 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TBC1D20 HGNC ENSG00000125875 tier1 - - 195 0 0.00 134 34 20.24 TBX15 0 genome.wustl.edu 37 1 119467289 119467289 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 119467289 119467289 C G SNP TBX15 ENST00000207157 human ensembl 74_37 -1 known missense c.355 p.E119Q 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX15 HGNC ENSG00000092607 tier1 - - 97 0 0.00 78 16 17.02 TCHHL1 0 genome.wustl.edu 37 1 152058803 152058803 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 152058803 152058803 C T SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known missense c.1355 p.G452E 0.000 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 tier1 - - 47 0 0.00 51 24 32.00 TDRD15 0 genome.wustl.edu 37 2 21360952 21360952 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 21360952 21360952 C G SNP TDRD15 ENST00000405799 human ensembl 74_37 +1 novel missense c.613 p.P205A 0.998 NULL pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors TDRD15 HGNC ENSG00000218819 tier1 - - 97 0 0.00 93 10 9.71 TECPR1 0 genome.wustl.edu 37 7 97862900 97862900 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 97862900 97862900 G C SNP TECPR1 ENST00000379795 human ensembl 74_37 -1 known missense c.1505 p.S502W 0.028 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 tier1 - - 17 0 0.00 14 7 33.33 TERT 0 genome.wustl.edu 37 5 1264696 1264696 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 1264696 1264696 C T SNP TERT ENST00000310581 human ensembl 74_37 -1 known missense c.2666 p.R889Q 0.000 pfam_RVT,pfscan_RVT pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 tier1 - - 58 0 0.00 137 8 5.52 TGS1 0 genome.wustl.edu 37 8 56695312 56695312 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 8 56695312 56695312 G A SNP TGS1 ENST00000260129 human ensembl 74_37 +1 known missense c.107 p.R36Q 1.000 NULL pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TGS1 HGNC ENSG00000137574 tier1 - - 134 0 0.00 127 34 20.99 THAP9-AS1 0 genome.wustl.edu 37 4 83821902 83821902 + RNA SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 4 83821902 83821902 C A SNP THAP9-AS1 ENST00000504520 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors THAP9-AS1 HGNC ENSG00000251022 tier1 - - 118 0 0.00 88 44 33.33 TIMELESS 0 genome.wustl.edu 37 12 56826260 56826260 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 56826260 56826260 G T SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known missense c.580 p.H194N 1.000 pfam_Timeless pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 tier1 - - 30 0 0.00 33 11 25.00 TMC1 0 genome.wustl.edu 37 9 75263520 75263520 + RNA SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 75263520 75263520 C G SNP TMC1 ENST00000492418 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TMC1 HGNC ENSG00000165091 tier1 - - 62 0 0.00 47 11 18.64 TMC1 0 genome.wustl.edu 37 9 75451136 75451137 + RNA INS - - T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 75451136 75451137 - T INS TMC1 ENST00000486417 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors TMC1 HGNC ENSG00000165091 tier1 11 0 0.00 17 5 22.73 TMC2 0 genome.wustl.edu 37 20 2597825 2597825 + Missense_Mutation SNP A A G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 20 2597825 2597825 A G SNP TMC2 ENST00000358864 human ensembl 74_37 +1 known missense c.2048 p.E683G 1.000 pfam_TMC pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 tier1 - - 52 0 0.00 21 19 47.50 TMEM154 0 genome.wustl.edu 37 4 153564270 153564270 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 4 153564270 153564270 C G SNP TMEM154 ENST00000304385 human ensembl 74_37 -1 known missense c.448 p.D150H 1.000 NULL NULL - no_errors TMEM154 HGNC ENSG00000170006 tier1 - - 79 0 0.00 57 22 27.85 TMEM181 0 genome.wustl.edu 37 6 159006381 159006381 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 159006381 159006381 G T SNP TMEM181 ENST00000367090 human ensembl 74_37 +1 known missense c.716 p.G239V 0.983 NULL NULL - no_errors TMEM181 HGNC ENSG00000146433 tier1 - - 36 0 0.00 49 4 7.55 TMPRSS7 0 genome.wustl.edu 37 3 111799855 111799855 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 111799855 111799855 C G SNP TMPRSS7 ENST00000419127 human ensembl 74_37 +1 known missense c.2078 p.P693R 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS7 HGNC ENSG00000176040 tier1 - - 67 0 0.00 71 6 7.79 TMTC4 0 genome.wustl.edu 37 13 101266675 101266675 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 13 101266675 101266675 G C SNP TMTC4 ENST00000342624 human ensembl 74_37 -1 known missense c.1846 p.L616V 0.983 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 tier1 - - 48 0 0.00 41 10 19.61 TNS3 0 genome.wustl.edu 37 7 47323459 47323459 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 47323459 47323459 G A SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known silent c.3933 p.C1311 1.000 pfam_PTB,smart_PTB/PI_dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 tier1 - - 29 0 0.00 32 4 11.11 TOMM70A 0 genome.wustl.edu 37 3 100086940 100086940 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 100086940 100086940 C G SNP TOMM70A ENST00000284320 human ensembl 74_37 -1 known missense c.1621 p.D541H 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM70A HGNC ENSG00000154174 tier1 - - 37 0 0.00 29 17 36.96 TOP3B 0 genome.wustl.edu 37 22 22316763 22316763 + Silent SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 22 22316763 22316763 G C SNP TOP3B ENST00000413067 human ensembl 74_37 -1 known silent c.750 p.V250 0.000 smart_Topo_IA_DNA-bd pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd - no_errors TOP3B HGNC ENSG00000100038 tier1 - - 44 0 0.00 27 6 18.18 TP53 0 genome.wustl.edu 37 17 7577118 7577118 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 7577118 7577118 C G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.820 p.V274L 0.074 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 34 0 0.00 22 8 26.67 TPTE2 0 genome.wustl.edu 37 13 20039660 20039660 + Missense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 13 20039660 20039660 C A SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.557 p.R186I 0.987 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 tier1 - - 130 0 0.00 163 22 11.89 TPTEP1 0 genome.wustl.edu 37 22 17119509 17119509 + RNA SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 22 17119509 17119509 G A SNP TPTEP1 ENST00000383140 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TPTEP1 HGNC ENSG00000100181 tier1 rs11089287 - 176 0 0.00 121 40 24.84 TPX2 0 genome.wustl.edu 37 20 30358170 30358170 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 20 30358170 30358170 G A SNP TPX2 ENST00000340513 human ensembl 74_37 +1 known silent c.381 p.Q127 1.000 NULL pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C - no_errors TPX2 HGNC ENSG00000088325 tier1 - - 118 0 0.00 131 27 17.09 TRAF3IP2-AS1 0 genome.wustl.edu 37 6 111805279 111805279 + RNA SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 111805279 111805279 C G SNP TRAF3IP2-AS1 ENST00000440001 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors TRAF3IP2-AS1 HGNC ENSG00000231889 tier1 - - 53 0 0.00 34 19 35.85 TRIL 0 genome.wustl.edu 37 7 28997239 28997239 + RNA SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 28997239 28997239 C G SNP TRIL ENST00000322982 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TRIL HGNC ENSG00000176734 tier1 - - 50 0 0.00 72 11 13.25 TRIM60 0 genome.wustl.edu 37 4 165961854 165961854 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 4 165961854 165961854 G A SNP TRIM60 ENST00000341062 human ensembl 74_37 +1 known missense c.630 p.M210I 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,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 TRIM60 HGNC ENSG00000176979 tier1 - - 62 0 0.00 63 28 30.77 TRIO 0 genome.wustl.edu 37 5 14369614 14369614 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 14369614 14369614 G A SNP TRIO ENST00000344204 human ensembl 74_37 +1 known silent c.3198 p.Q1066 0.980 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 tier1 - - 37 0 0.00 132 13 8.97 TRIP12 0 genome.wustl.edu 37 2 230744786 230744786 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 230744786 230744786 G A SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known missense c.10 p.R4W 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 tier1 - - 27 0 0.00 21 18 46.15 TRPC6 0 genome.wustl.edu 37 11 101341989 101341989 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 101341989 101341989 C T SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known silent c.2334 p.L778 0.998 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 tier1 - - 58 0 0.00 44 9 16.98 TTC30A 0 genome.wustl.edu 37 2 178482187 178482187 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 178482187 178482187 C T SNP TTC30A ENST00000355689 human ensembl 74_37 -1 known missense c.1243 p.E415K 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC ENSG00000197557 tier1 - - 45 0 0.00 58 6 9.38 TTC39A 0 genome.wustl.edu 37 1 51767904 51767904 + Missense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 51767904 51767904 C A SNP TTC39A ENST00000262676 human ensembl 74_37 -1 known missense c.1112 p.R371I 0.000 NULL pfam_OMP_IML2_mit/TPR_39 - no_errors TTC39A HGNC ENSG00000085831 tier1 - - 100 0 0.00 103 21 16.80 TTC40 0 genome.wustl.edu 37 10 134628194 134628194 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 10 134628194 134628194 G T SNP TTC40 ENST00000263170 human ensembl 74_37 -1 known missense c.1728 p.F576L 0.869 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 - - 94 0 0.00 87 7 7.45 TTLL10-AS1 0 genome.wustl.edu 37 1 1110887 1110887 + RNA SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 1110887 1110887 C T SNP TTLL10-AS1 ENST00000379317 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors TTLL10-AS1 HGNC ENSG00000205231 tier1 - - 31 0 0.00 11 5 31.25 TUB 0 genome.wustl.edu 37 11 8122402 8122402 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 8122402 8122402 G C SNP TUB ENST00000305253 human ensembl 74_37 +1 known missense c.1410 p.Q470H 1.000 pfam_Tubby_C,superfamily_Tubby_C-like pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C - no_errors TUB HGNC ENSG00000166402 tier1 - - 44 0 0.00 31 5 13.89 TUT1 0 genome.wustl.edu 37 11 62343608 62343608 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 62343608 62343608 G C SNP TUT1 ENST00000308436 human ensembl 74_37 -1 known missense c.1697 p.S566C 0.872 pfam_PAP_assoc pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 tier1 - - 38 0 0.00 57 5 8.06 U2SURP 0 genome.wustl.edu 37 3 142772588 142772588 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 142772588 142772588 C G SNP U2SURP ENST00000473835 human ensembl 74_37 +1 known missense c.2726 p.S909C 1.000 NULL pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_CID_dom,pfscan_Surp,pfscan_RRM_dom - no_errors U2SURP HGNC ENSG00000163714 tier1 - - 88 0 0.00 107 19 15.08 UBAP2 0 genome.wustl.edu 37 9 33927920 33927920 + Nonsense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 33927920 33927920 G C SNP UBAP2 ENST00000360802 human ensembl 74_37 -1 known nonsense c.2246 p.S749* 0.018 NULL pfam_DUF3697_Uba2,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC ENSG00000137073 tier1 - - 35 0 0.00 19 7 26.92 UBE2E3 0 genome.wustl.edu 37 2 181846835 181846835 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 181846835 181846835 G A SNP UBE2E3 ENST00000392415 human ensembl 74_37 +1 known silent c.66 p.A22 0.007 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2E3 HGNC ENSG00000170035 tier1 - - 46 0 0.00 21 17 44.74 UBE4B 0 genome.wustl.edu 37 1 10218487 10218487 + Missense_Mutation SNP T T A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 10218487 10218487 T A SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known missense c.3000 p.F1000L 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 tier1 - - 80 0 0.00 77 5 6.10 UBR5 0 genome.wustl.edu 37 8 103274200 103274200 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 8 103274200 103274200 G C SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.7785 p.F2595L 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 tier1 - - 91 0 0.00 60 13 17.81 UNC80 0 genome.wustl.edu 37 2 210737501 210737501 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 210737501 210737501 G C SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.3653 p.R1218T 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 - - 30 0 0.00 24 11 31.43 UPF3A 0 genome.wustl.edu 37 13 115067486 115067486 + Nonsense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 13 115067486 115067486 C T SNP UPF3A ENST00000375299 human ensembl 74_37 +1 known nonsense c.1288 p.R430* 0.460 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 29 0 0.00 47 3 6.00 UPRT 0 genome.wustl.edu 37 X 74523419 74523419 + RNA SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 X 74523419 74523419 C T SNP UPRT ENST00000474175 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors UPRT HGNC ENSG00000094841 tier1 - - 35 0 0.00 26 18 40.91 URI1 0 genome.wustl.edu 37 19 30414647 30414647 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 30414647 30414647 C T SNP URI1 ENST00000360605 human ensembl 74_37 +1 putative silent c.49 p.L17 0.000 NULL pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin - no_errors URI1 HGNC ENSG00000105176 tier1 - - 64 0 0.00 23 6 20.69 URI1 0 genome.wustl.edu 37 19 30499999 30499999 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 30499999 30499999 G T SNP URI1 ENST00000542441 human ensembl 74_37 +1 known missense c.774 p.M258I 0.000 NULL pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin - no_errors URI1 HGNC ENSG00000105176 38 0 0.00 38 2 5.00 URM1 0 genome.wustl.edu 37 9 131133692 131133692 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 131133692 131133692 C T SNP URM1 ENST00000452446 human ensembl 74_37 +1 known silent c.33 p.F11 1.000 pfam_Urm1,superfamily_Mopterin_synth/thiamin_S_b pfam_Urm1,superfamily_Mopterin_synth/thiamin_S_b - no_errors URM1 HGNC ENSG00000167118 tier1 - - 57 0 0.00 67 9 11.84 USH2A 0 genome.wustl.edu 37 1 215931947 215931947 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 215931947 215931947 C G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.11379 p.W3793C 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 55 0 0.00 33 11 25.00 USP16 0 genome.wustl.edu 37 21 30410683 30410683 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 21 30410683 30410683 G C SNP USP16 ENST00000334352 human ensembl 74_37 +1 known missense c.664 p.E222Q 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP16 HGNC ENSG00000156256 tier1 - - 48 0 0.00 48 4 7.69 USP17L17 0 genome.wustl.edu 37 4 9245880 9245880 + Frame_Shift_Del DEL C C - TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 4 9245880 9245880 C 0 DEL USP17L17 ENST00000511568 human ensembl 74_37 +1 novel frame_shift_del c.276 p.N92fs 0.997 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L17 HGNC ENSG00000249104 11 0 0.00 6 3 33.33 USP33 0 genome.wustl.edu 37 1 78163138 78163138 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 78163138 78163138 G A SNP USP33 ENST00000357428 human ensembl 74_37 -1 known missense c.2693 p.S898F 1.000 pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP33 HGNC ENSG00000077254 tier1 - - 99 0 0.00 83 28 25.23 USP35 0 genome.wustl.edu 37 11 77924691 77924691 + Splice_Site SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 77924691 77924691 G T SNP USP35 ENST00000529308 human ensembl 74_37 +1 known splice_site c.2890-1 e10-1 1.000 - - - no_errors USP35 HGNC ENSG00000118369 tier1 - - 51 0 0.00 46 4 8.00 USP53 0 genome.wustl.edu 37 4 120213663 120213663 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 4 120213663 120213663 G T SNP USP53 ENST00000274030 human ensembl 74_37 +1 known missense c.2519 p.G840V 0.005 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP53 HGNC ENSG00000145390 tier1 - - 53 0 0.00 62 4 6.06 VEGFB 0 genome.wustl.edu 37 11 64005110 64005110 + Silent SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 64005110 64005110 C G SNP VEGFB ENST00000426086 human ensembl 74_37 +1 known silent c.528 p.L176 1.000 superfamily_VEGF_C pfam_PDGF/VEGF_dom,superfamily_VEGF_C,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFB HGNC ENSG00000173511 29 0 0.00 19 2 9.52 VSX1 0 genome.wustl.edu 37 20 25059403 25059403 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 20 25059403 25059403 G A SNP VSX1 ENST00000376707 human ensembl 74_37 -1 known missense c.689 p.S230L 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors VSX1 HGNC ENSG00000100987 tier1 - - 104 0 0.00 116 10 7.87 VWA5A 0 genome.wustl.edu 37 11 124006970 124006970 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 124006970 124006970 C G SNP VWA5A ENST00000392748 human ensembl 74_37 +1 known missense c.1494 p.I498M 0.008 NULL pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC ENSG00000110002 tier1 - - 23 0 0.00 38 6 13.64 WDPCP 0 genome.wustl.edu 37 2 63631310 63631310 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 2 63631310 63631310 G T SNP WDPCP ENST00000272321 human ensembl 74_37 -1 known missense c.1308 p.S436R 1.000 pfam_DUF3312 pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC ENSG00000143951 tier1 - - 53 0 0.00 33 25 43.10 WDR47 0 genome.wustl.edu 37 1 109517260 109517260 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 109517260 109517260 G C SNP WDR47 ENST00000400794 human ensembl 74_37 -1 known missense c.2539 p.H847D 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 tier1 - - 28 0 0.00 22 4 15.38 WDR64 0 genome.wustl.edu 37 1 241951283 241951283 + Missense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 241951283 241951283 C A SNP WDR64 ENST00000366552 human ensembl 74_37 +1 known missense c.2808 p.S936R 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 tier1 - - 81 0 0.00 49 17 25.76 WISP1 0 genome.wustl.edu 37 8 134225290 134225290 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 8 134225290 134225290 G T SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known missense c.253 p.D85Y 1.000 pfam_IGFBP-like,smart_IGFBP-like,pirsf_IGFBP_CNN pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 tier1 - - 61 0 0.00 55 5 8.33 WTAP 0 genome.wustl.edu 37 6 160176222 160176222 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 160176222 160176222 C G SNP WTAP ENST00000358372 human ensembl 74_37 +1 known missense c.770 p.S257C 0.811 NULL NULL - no_errors WTAP HGNC ENSG00000146457 20 0 0.00 21 2 8.70 WTAPP1 0 genome.wustl.edu 37 11 102707181 102707181 + RNA SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 11 102707181 102707181 G C SNP WTAPP1 ENST00000525739 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors WTAPP1 HGNC ENSG00000255282 tier1 - - 43 0 0.00 19 13 40.62 XIST 0 genome.wustl.edu 37 X 73048909 73048909 + RNA SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 X 73048909 73048909 C T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.266 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 16 0 0.00 10 10 50.00 XXYLT1 0 genome.wustl.edu 37 3 194896403 194896403 + RNA SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 3 194896403 194896403 G T SNP XXYLT1 ENST00000476897 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XXYLT1 HGNC ENSG00000173950 tier1 - - 42 0 0.00 18 9 33.33 YAF2 0 genome.wustl.edu 37 12 42604227 42604227 + Nonsense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 12 42604227 42604227 G C SNP YAF2 ENST00000552928 human ensembl 74_37 -1 known nonsense c.356 p.S119* 1.000 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors YAF2 HGNC ENSG00000015153 tier1 - - 32 0 0.00 45 12 21.05 ZBTB37 0 genome.wustl.edu 37 1 173854791 173854791 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 173854791 173854791 G C SNP ZBTB37 ENST00000367701 human ensembl 74_37 +1 known missense c.1041 p.M347I 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB37 HGNC ENSG00000185278 tier1 - - 66 0 0.00 70 25 26.32 ZBTB7B 0 genome.wustl.edu 37 1 154987266 154987266 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 154987266 154987266 G C SNP ZBTB7B ENST00000417934 human ensembl 74_37 +1 known missense c.232 p.E78Q 0.247 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7B HGNC ENSG00000160685 tier1 - - 52 0 0.00 24 7 22.58 ZCCHC24 0 genome.wustl.edu 37 10 81154181 81154181 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 10 81154181 81154181 C G SNP ZCCHC24 ENST00000372336 human ensembl 74_37 -1 known missense c.463 p.E155Q 1.000 superfamily_Znf_CCHC superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC24 HGNC ENSG00000165424 tier1 - - 26 0 0.00 40 8 16.67 ZFAND5 0 genome.wustl.edu 37 9 74970020 74970020 + RNA SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 9 74970020 74970020 C G SNP ZFAND5 ENST00000488164 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZFAND5 HGNC ENSG00000107372 tier1 - - 67 0 0.00 87 29 25.00 ZFP36 0 genome.wustl.edu 37 19 39898975 39898975 + Missense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 39898975 39898975 C A SNP ZFP36 ENST00000597629 human ensembl 74_37 +1 known missense c.635 p.P212H 0.802 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36 HGNC ENSG00000128016 73 0 0.00 67 4 5.63 ZFPM2 0 genome.wustl.edu 37 8 106813358 106813358 + Missense_Mutation SNP T T A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 8 106813358 106813358 T A SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.1048 p.F350I 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 tier1 - - 51 0 0.00 59 5 7.81 ZMYND15 0 genome.wustl.edu 37 17 4643965 4643965 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 17 4643965 4643965 G A SNP ZMYND15 ENST00000433935 human ensembl 74_37 +1 known missense c.122 p.R41Q 0.490 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND15 HGNC ENSG00000141497 24 0 0.00 29 2 6.45 ZNF233 0 genome.wustl.edu 37 19 44764147 44764147 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 44764147 44764147 G A SNP ZNF233 ENST00000334152 human ensembl 74_37 +1 known missense c.254 p.G85E 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF233 HGNC ENSG00000159915 tier1 - - 19 0 0.00 13 6 31.58 ZNF251 0 genome.wustl.edu 37 8 145948071 145948071 + Missense_Mutation SNP T T G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 8 145948071 145948071 T G SNP ZNF251 ENST00000292562 human ensembl 74_37 -1 known missense c.974 p.E325A 0.775 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 ZNF251 HGNC ENSG00000198169 tier1 - - 50 0 0.00 43 4 8.51 ZNF267 0 genome.wustl.edu 37 16 31926132 31926132 + Missense_Mutation SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 16 31926132 31926132 C G SNP ZNF267 ENST00000300870 human ensembl 74_37 +1 known missense c.562 p.H188D 0.006 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF267 HGNC ENSG00000185947 tier1 - - 105 0 0.00 63 29 31.52 ZNF281 0 genome.wustl.edu 37 1 200376438 200376438 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 200376438 200376438 G C SNP ZNF281 ENST00000294740 human ensembl 74_37 -1 known missense c.2396 p.S799C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF281 HGNC ENSG00000162702 tier1 - - 33 0 0.00 38 11 22.45 ZNF420 0 genome.wustl.edu 37 19 37619881 37619881 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 37619881 37619881 G A SNP ZNF420 ENST00000337995 human ensembl 74_37 +1 known missense c.1988 p.R663K 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF420 HGNC ENSG00000197050 tier1 - - 76 0 0.00 46 14 23.33 ZNF521 0 genome.wustl.edu 37 18 22807516 22807516 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 18 22807516 22807516 G T SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.366 p.F122L 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 50 0 0.00 60 11 15.49 ZNF608 0 genome.wustl.edu 37 5 124079853 124079853 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 124079853 124079853 C T SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known missense c.830 p.G277E 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 32 0 0.00 20 3 13.04 ZNF622 0 genome.wustl.edu 37 5 16463720 16463720 + Missense_Mutation SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 5 16463720 16463720 C T SNP ZNF622 ENST00000308683 human ensembl 74_37 -1 known missense c.757 p.D253N 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF622 HGNC ENSG00000173545 tier1 - - 35 0 0.00 98 14 12.50 ZNF679 0 genome.wustl.edu 37 7 63726538 63726538 + Missense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 7 63726538 63726538 C A SNP ZNF679 ENST00000255746 human ensembl 74_37 +1 known missense c.527 p.T176K 0.999 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 ZNF679 HGNC ENSG00000197123 tier1 - - 90 0 0.00 91 33 26.61 ZNF773 0 genome.wustl.edu 37 19 58018634 58018634 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 58018634 58018634 G A SNP ZNF773 ENST00000282292 human ensembl 74_37 +1 known missense c.1171 p.E391K 0.821 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 ZNF773 HGNC ENSG00000152439 tier1 - - 105 0 0.00 85 15 15.00 ZNF829 0 genome.wustl.edu 37 19 37382734 37382734 + Missense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 19 37382734 37382734 C A SNP ZNF829 ENST00000520965 human ensembl 74_37 -1 known missense c.1202 p.G401V 1.000 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 - - 75 0 0.00 43 9 17.31 ZRANB2 0 genome.wustl.edu 37 1 71532985 71532985 + RNA SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 1 71532985 71532985 G A SNP ZRANB2 ENST00000477096 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZRANB2 HGNC ENSG00000132485 tier1 - - 16 0 0.00 7 4 36.36 ZSCAN12 0 genome.wustl.edu 37 6 28360708 28360708 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21fd90ec-68fe-486d-a400-8ac0d8a448ef b3988eaa-b02d-478b-8737-4c0850c13ad8 6 28360708 28360708 G A SNP ZSCAN12 ENST00000361028 human ensembl 74_37 -1 known missense c.518 p.S173F 0.015 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN12 HGNC ENSG00000158691 tier1 - - 71 0 0.00 43 15 25.86