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 A2M 0 genome.wustl.edu 37 12 9227282 9227282 + Silent SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 9227282 9227282 G T SNP A2M ENST00000318602 human ensembl 74_37 -1 known silent c.3630 p.S1210 1.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 106 0 0.00 59 4 6.35 ABCA13 0 genome.wustl.edu 37 7 48619925 48619925 + Nonsense_Mutation SNP T T G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 7 48619925 48619925 T G SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known nonsense c.14460 p.Y4820* 0.001 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 43 0 0.00 55 12 17.91 ABCA2 0 genome.wustl.edu 37 9 139906125 139906125 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 9 139906125 139906125 G A SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.5612 p.T1871I 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 tier1 - - 116 0 0.00 65 37 36.27 ACOT7 0 genome.wustl.edu 37 1 6378592 6378592 + Silent SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 6378592 6378592 C A SNP ACOT7 ENST00000377855 human ensembl 74_37 -1 known silent c.702 p.V234 1.000 NULL pfam_Thioestr_supf - no_errors ACOT7 HGNC ENSG00000097021 tier1 - - 106 0 0.00 60 4 6.25 ACTL9 0 genome.wustl.edu 37 19 8807932 8807932 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 8807932 8807932 G T SNP ACTL9 ENST00000324436 human ensembl 74_37 -1 known missense c.1120 p.P374T 0.998 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL9 HGNC ENSG00000181786 46 0 0.00 37 4 9.76 AGPAT9 0 genome.wustl.edu 37 4 84519790 84519790 + RNA SNP A A T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 4 84519790 84519790 A T SNP AGPAT9 ENST00000509044 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors AGPAT9 HGNC ENSG00000138678 tier1 - - 135 0 0.00 163 10 5.78 AHDC1 0 genome.wustl.edu 37 1 27874814 27874814 + Silent SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 27874814 27874814 C T SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known silent c.3813 p.P1271 0.168 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 33 0 0.00 35 2 5.41 ALG13 0 genome.wustl.edu 37 X 110952267 110952267 + Silent SNP T T A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db X 110952267 110952267 T A SNP ALG13 ENST00000251943 human ensembl 74_37 +1 known silent c.513 p.T171 0.288 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 tier1 - - 48 0 0.00 41 5 10.87 ALPI 0 genome.wustl.edu 37 2 233323430 233323430 + Silent SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 2 233323430 233323430 G T SNP ALPI ENST00000295463 human ensembl 74_37 +1 known silent c.1272 p.V424 0.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPI HGNC ENSG00000163295 74 0 0.00 57 4 6.56 ANGEL1 0 genome.wustl.edu 37 14 77256975 77256975 + Missense_Mutation SNP A A G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 14 77256975 77256975 A G SNP ANGEL1 ENST00000251089 human ensembl 74_37 -1 known missense c.1831 p.C611R 0.354 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors ANGEL1 HGNC ENSG00000013523 40 0 0.00 37 2 5.13 ANKRD26P1 0 genome.wustl.edu 37 16 46513115 46513115 + RNA SNP T T C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 16 46513115 46513115 T C SNP ANKRD26P1 ENST00000566201 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors ANKRD26P1 HGNC ENSG00000261239 tier1 - - 60 0 0.00 56 5 8.20 ANKS1B 0 genome.wustl.edu 37 12 100219102 100219102 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 100219102 100219102 G T SNP ANKS1B ENST00000329257 human ensembl 74_37 -1 known missense c.200 p.A67D 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt 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 - - 65 0 0.00 61 4 6.15 ANO8 0 genome.wustl.edu 37 19 17435735 17435735 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 17435735 17435735 C T SNP ANO8 ENST00000159087 human ensembl 74_37 -1 known missense c.3122 p.R1041H 1.000 NULL pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 tier1 - - 90 0 0.00 65 11 14.47 AP1G1 0 genome.wustl.edu 37 16 71784219 71784219 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 16 71784219 71784219 C T SNP AP1G1 ENST00000433195 human ensembl 74_37 -1 known missense c.1370 p.R457H 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G1 HGNC ENSG00000166747 tier1 - - 59 0 0.00 53 4 7.02 AP3D1 0 genome.wustl.edu 37 19 2118609 2118609 + Silent SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 2118609 2118609 C T SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known silent c.1704 p.V568 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 tier1 - - 92 0 0.00 76 5 6.17 APOB 0 genome.wustl.edu 37 2 21242612 21242612 + Silent SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 2 21242612 21242612 C T SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.2982 p.P994 0.510 pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 98 0 0.00 92 6 6.12 ARFIP2 0 genome.wustl.edu 37 11 6500011 6500011 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 6500011 6500011 C T SNP ARFIP2 ENST00000254584 human ensembl 74_37 -1 known missense c.494 p.G165D 1.000 pfam_AH_dom,pfscan_AH_dom pfam_AH_dom,pfscan_AH_dom - no_errors ARFIP2 HGNC ENSG00000132254 28 0 0.00 32 2 5.88 ASPG 0 genome.wustl.edu 37 14 104561907 104561907 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 14 104561907 104561907 G T SNP ASPG ENST00000455920 human ensembl 74_37 +1 known missense c.343 p.G115C 1.000 pfam_Asparaginase/glutaminase,superfamily_Asparaginase/glutaminase,smart_Asparaginase/glutaminase,prints_Asparaginase/glutaminase,tigrfam_AsnASEI pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_AsnASEI - no_errors ASPG HGNC ENSG00000166183 tier1 - - 69 0 0.00 67 5 6.94 ATP13A5 0 genome.wustl.edu 37 3 193071969 193071969 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 3 193071969 193071969 G T SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known missense c.553 p.P185T 1.000 pfam_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 tier1 - - 56 0 0.00 47 4 7.84 ATP4A 0 genome.wustl.edu 37 19 36050724 36050724 + Silent SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 36050724 36050724 G A SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known silent c.1039 p.L347 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 tier1 - - 33 0 0.00 26 4 13.33 ATP8B5P 0 genome.wustl.edu 37 9 35482170 35482170 + RNA SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 9 35482170 35482170 G T SNP ATP8B5P ENST00000329395 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors ATP8B5P HGNC ENSG00000179766 tier1 - - 33 0 0.00 33 4 10.81 BAMBI 0 genome.wustl.edu 37 10 28971125 28971125 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 10 28971125 28971125 G A SNP BAMBI ENST00000375533 human ensembl 74_37 +1 known missense c.578 p.R193H 1.000 pirsf_BMP/activin_membr-bound_inhib pfam_BMP/activin_membr-bound_inhib,pfam_Activin_rcpt,pirsf_BMP/activin_membr-bound_inhib - no_errors BAMBI HGNC ENSG00000095739 tier1 - - 62 0 0.00 40 5 11.11 BBS1 0 genome.wustl.edu 37 11 66299217 66299217 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 66299217 66299217 G T SNP BBS1 ENST00000393994 human ensembl 74_37 +1 putative missense c.1312 p.G438C 0.054 NULL NULL - no_errors BBS1 HGNC ENSG00000174483 tier1 - - 61 0 0.00 48 4 7.69 BCAM 0 genome.wustl.edu 37 19 45316510 45316510 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 45316510 45316510 G A SNP BCAM ENST00000270233 human ensembl 74_37 +1 known missense c.508 p.A170T 0.978 pfam_CD80_C2-set,pfscan_Ig-like_dom pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 tier1 - - 133 0 0.00 107 31 22.46 BCDIN3D 0 genome.wustl.edu 37 12 50236768 50236768 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 50236768 50236768 G T SNP BCDIN3D ENST00000333924 human ensembl 74_37 -1 known missense c.103 p.P35T 1.000 NULL pfam_Bin3 - no_errors BCDIN3D HGNC ENSG00000186666 tier1 - - 75 0 0.00 34 4 10.53 BCL9 0 genome.wustl.edu 37 1 147095863 147095863 + Silent SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 147095863 147095863 G A SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known silent c.3384 p.P1128 0.478 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 tier1 - - 77 0 0.00 40 9 18.37 BEND7 0 genome.wustl.edu 37 10 13481306 13481306 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 10 13481306 13481306 G T SNP BEND7 ENST00000396900 human ensembl 74_37 -1 known missense c.1426 p.Q476K 0.005 NULL pfam_BEN_domain - no_errors BEND7 HGNC ENSG00000165626 68 0 0.00 73 4 5.19 BIRC6 0 genome.wustl.edu 37 2 32640137 32640137 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 2 32640137 32640137 G A SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.1778 p.G593D 0.983 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 tier1 - - 38 0 0.00 24 6 20.00 BTN2A1 0 genome.wustl.edu 37 6 26458908 26458908 + Missense_Mutation SNP T T C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 6 26458908 26458908 T C SNP BTN2A1 ENST00000312541 human ensembl 74_37 +1 known missense c.44 p.L15P 0.003 pfscan_Ig-like_dom pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A1 HGNC ENSG00000112763 83 0 0.00 81 5 5.81 BTNL3 0 genome.wustl.edu 37 5 180424394 180424394 + Silent SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 180424394 180424394 C A SNP BTNL3 ENST00000342868 human ensembl 74_37 +1 known silent c.579 p.I193 0.000 pfscan_Ig-like_dom pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTNL3 HGNC ENSG00000168903 tier1 - - 96 0 0.00 68 8 10.39 BYSL 0 genome.wustl.edu 37 6 41899282 41899282 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 6 41899282 41899282 G T SNP BYSL ENST00000230340 human ensembl 74_37 +1 known missense c.853 p.A285S 1.000 pfam_Bystin pfam_Bystin - no_errors BYSL HGNC ENSG00000112578 tier1 - - 81 0 0.00 63 4 5.97 BZRAP1 0 genome.wustl.edu 37 17 56387907 56387907 + Missense_Mutation SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 17 56387907 56387907 C A SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.3665 p.G1222V 0.965 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 tier1 rs201358584 - 58 0 0.00 30 11 26.83 BZRAP1 0 genome.wustl.edu 37 17 56385999 56385999 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 17 56385999 56385999 C T SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.4634 p.G1545D 0.336 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 87 0 0.00 53 4 7.02 C12orf55 0 genome.wustl.edu 37 12 96974774 96974774 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 96974774 96974774 C T SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.2966 p.A989V 1.000 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 67 0 0.00 57 4 6.56 C12orf55 0 genome.wustl.edu 37 12 97038026 97038026 + Missense_Mutation SNP A A G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 97038026 97038026 A G SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.4387 p.S1463G 0.000 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 50 0 0.00 30 10 25.00 C1orf112 0 genome.wustl.edu 37 1 169796899 169796899 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 169796899 169796899 G T SNP C1orf112 ENST00000286031 human ensembl 74_37 +1 known missense c.1045 p.V349F 0.223 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 tier1 - - 67 0 0.00 47 4 7.84 C1orf173 0 genome.wustl.edu 37 1 75102068 75102068 + Nonsense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 75102068 75102068 G A SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known nonsense c.499 p.Q167* 0.995 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 75 0 0.00 61 4 6.15 CACNA1A 0 genome.wustl.edu 37 19 13441142 13441142 + Silent SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 13441142 13441142 G T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known silent c.1261 p.R421 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 51 0 0.00 47 3 6.00 CACNB2 0 genome.wustl.edu 37 10 18690939 18690939 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 10 18690939 18690939 G T SNP CACNB2 ENST00000324631 human ensembl 74_37 +1 known missense c.300 p.E100D 1.000 pfam_VDCC_L_bsu,superfamily_SH3_domain pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 46 0 0.00 47 3 6.00 CAPN6 0 genome.wustl.edu 37 X 110494492 110494492 + Missense_Mutation SNP T T G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db X 110494492 110494492 T G SNP CAPN6 ENST00000324068 human ensembl 74_37 -1 known missense c.916 p.T306P 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 tier1 - - 42 0 0.00 28 6 17.65 CASP8AP2 0 genome.wustl.edu 37 6 90578430 90578430 + RNA DEL A A - TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 6 90578430 90578430 A - DEL CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors CASP8AP2 HGNC ENSG00000118412 tier1 27 0 0.00 29 2 6.45 CASS4 0 genome.wustl.edu 37 20 55012570 55012570 + Silent SNP A A G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 20 55012570 55012570 A G SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known silent c.387 p.Q129 0.584 NULL pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 tier1 - - 41 0 0.00 33 5 13.16 CBLB 0 genome.wustl.edu 37 3 105421029 105421029 + Nonsense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 3 105421029 105421029 G T SNP CBLB ENST00000264122 human ensembl 74_37 -1 known nonsense c.1868 p.S623* 0.367 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 41 0 0.00 35 2 5.26 CCBL2 0 genome.wustl.edu 37 1 89453970 89453970 + Missense_Mutation SNP A A G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 89453970 89453970 A G SNP CCBL2 ENST00000260508 human ensembl 74_37 -1 known missense c.64 p.S22P 0.029 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors CCBL2 HGNC ENSG00000137944 tier1 - - 78 0 0.00 43 23 34.85 CCDC103 0 genome.wustl.edu 37 17 42979018 42979018 + Missense_Mutation SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 17 42979018 42979018 C A SNP CCDC103 ENST00000410006 human ensembl 74_37 +1 known missense c.274 p.P92T 0.652 NULL NULL - no_errors CCDC103 HGNC ENSG00000167131 69 0 0.00 55 4 6.78 CCDC144NL 0 genome.wustl.edu 37 17 20799142 20799142 + Silent SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 17 20799142 20799142 G A SNP CCDC144NL ENST00000327925 human ensembl 74_37 -1 known silent c.192 p.H64 0.000 NULL NULL - no_errors CCDC144NL HGNC ENSG00000205212 tier1 - - 86 0 0.00 41 18 30.51 CCDC82 0 genome.wustl.edu 37 11 96117597 96117597 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 96117597 96117597 G T SNP CCDC82 ENST00000278520 human ensembl 74_37 -1 known missense c.315 p.N105K 0.000 NULL NULL - no_errors CCDC82 HGNC ENSG00000149231 tier1 - - 75 0 0.00 77 5 6.10 CD1A 0 genome.wustl.edu 37 1 158224912 158224912 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 158224912 158224912 G T SNP CD1A ENST00000289429 human ensembl 74_37 +1 known missense c.97 p.A33S 0.000 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1A HGNC ENSG00000158477 40 0 0.00 37 2 5.13 CD1E 0 genome.wustl.edu 37 1 158324338 158324338 + Missense_Mutation SNP T T G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 158324338 158324338 T G SNP CD1E ENST00000368167 human ensembl 74_37 +1 known missense c.230 p.L77R 0.002 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 tier1 - - 56 0 0.00 32 10 23.81 CDC6 0 genome.wustl.edu 37 17 38449839 38449839 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 17 38449839 38449839 G T SNP CDC6 ENST00000209728 human ensembl 74_37 +1 known missense c.792 p.M264I 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18 pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18 - no_errors CDC6 HGNC ENSG00000094804 tier1 - - 76 0 0.00 42 4 8.70 CDKN2A 0 genome.wustl.edu 37 9 21971025 21971026 + Frame_Shift_Del DEL GC GC - TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 9 21971025 21971026 GC - DEL CDKN2A ENST00000361570 human ensembl 74_37 -1 known frame_shift_del c.499_498 p.P167fs 0.998:1.000 NULL pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC ENSG00000147889 tier1 62 0 0.00 18 16 47.06 CHD1 0 genome.wustl.edu 37 5 98223808 98223808 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 98223808 98223808 C T SNP CHD1 ENST00000284049 human ensembl 74_37 -1 known missense c.2480 p.R827H 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 68 0 0.00 66 4 5.71 CHD6 0 genome.wustl.edu 37 20 40045933 40045933 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 20 40045933 40045933 C T SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.6184 p.G2062R 0.997 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 44 0 0.00 75 4 5.06 CHL1 0 genome.wustl.edu 37 3 382518 382518 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 3 382518 382518 G T SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.427 p.V143L 1.000 smart_Ig_sub,pfscan_Ig-like_dom 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 CHL1 HGNC ENSG00000134121 44 0 0.00 57 3 5.00 CLCN7 0 genome.wustl.edu 37 16 1498746 1498746 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 16 1498746 1498746 G T SNP CLCN7 ENST00000382745 human ensembl 74_37 -1 known missense c.1819 p.Q607K 1.000 superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7 - no_errors CLCN7 HGNC ENSG00000103249 tier1 - - 121 0 0.00 74 4 5.13 CLDN16 0 genome.wustl.edu 37 3 190122688 190122688 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 3 190122688 190122688 G A SNP CLDN16 ENST00000264734 human ensembl 74_37 +1 known missense c.565 p.V189I 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin - no_errors CLDN16 HGNC ENSG00000113946 tier1 - - 60 0 0.00 54 4 6.90 COG4 0 genome.wustl.edu 37 16 70551549 70551549 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 16 70551549 70551549 G A SNP COG4 ENST00000323786 human ensembl 74_37 -1 known missense c.349 p.R117C 1.000 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 tier1 rs149620212 - 31 0 0.00 22 7 24.14 COL12A1 0 genome.wustl.edu 37 6 75866113 75866113 + Missense_Mutation SNP T T G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 6 75866113 75866113 T G SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.3110 p.K1037T 0.873 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 - - 81 0 0.00 55 4 6.78 COL21A1 0 genome.wustl.edu 37 6 55990409 55990409 + Missense_Mutation SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 6 55990409 55990409 C A SNP COL21A1 ENST00000244728 human ensembl 74_37 -1 known missense c.1606 p.G536C 1.000 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 tier1 - - 76 0 0.00 75 9 10.71 CORO2A 0 genome.wustl.edu 37 9 100887124 100887124 + Nonsense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 9 100887124 100887124 G A SNP CORO2A ENST00000343933 human ensembl 74_37 -1 known nonsense c.1510 p.R504* 1.000 NULL pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2A HGNC ENSG00000106789 tier1 - - 49 0 0.00 39 4 9.30 CPT1A 0 genome.wustl.edu 37 11 68540864 68540864 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 68540864 68540864 C T SNP CPT1A ENST00000265641 human ensembl 74_37 -1 known missense c.1609 p.A537T 0.996 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 tier1 - - 61 0 0.00 67 4 5.63 CRB1 0 genome.wustl.edu 37 1 197396706 197396706 + Missense_Mutation SNP T T G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 197396706 197396706 T G SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.2251 p.L751V 0.999 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 tier1 - - 48 0 0.00 38 7 15.56 CREB3L2 0 genome.wustl.edu 37 7 137565290 137565290 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 7 137565290 137565290 C T SNP CREB3L2 ENST00000330387 human ensembl 74_37 -1 known missense c.1495 p.A499T 0.774 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L2 HGNC ENSG00000182158 tier1 - - 57 0 0.00 44 4 8.33 CROT 0 genome.wustl.edu 37 7 86990707 86990707 + Missense_Mutation SNP T T C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 7 86990707 86990707 T C SNP CROT ENST00000331536 human ensembl 74_37 +1 known missense c.242 p.L81P 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 tier1 - - 63 0 0.00 51 4 7.27 CSAD 0 genome.wustl.edu 37 12 53553458 53553458 + Frame_Shift_Del DEL G G - TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 53553458 53553458 G - DEL CSAD ENST00000267085 human ensembl 74_37 -1 known frame_shift_del c.1338 p.S447fs 1.000 superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors CSAD HGNC ENSG00000139631 tier1 53 0 0.00 49 3 5.77 CSMD1 0 genome.wustl.edu 37 8 2986325 2986326 + RNA INS - - T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 8 2986325 2986326 - T INS CSMD1 ENST00000523387 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors CSMD1 HGNC ENSG00000183117 tier1 30 0 0.00 25 4 13.79 CYBB 0 genome.wustl.edu 37 X 37655265 37655265 + Missense_Mutation SNP T T C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db X 37655265 37655265 T C SNP CYBB ENST00000378588 human ensembl 74_37 +1 known missense c.545 p.I182T 1.000 pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC ENSG00000165168 tier1 - - 29 0 0.00 21 4 16.00 CYBB 0 genome.wustl.edu 37 X 37655341 37655341 + Silent SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db X 37655341 37655341 C T SNP CYBB ENST00000378588 human ensembl 74_37 +1 known silent c.621 p.Y207 1.000 pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC ENSG00000165168 tier1 - - 50 0 0.00 37 4 9.76 CYP4F12 0 genome.wustl.edu 37 19 15789138 15789138 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 15789138 15789138 C T SNP CYP4F12 ENST00000324632 human ensembl 74_37 +1 known missense c.266 p.T89M 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F12 HGNC ENSG00000186204 86 0 0.00 69 4 5.48 DAB2IP 0 genome.wustl.edu 37 9 124535156 124535156 + Silent SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 9 124535156 124535156 C T SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known silent c.2349 p.A783 0.063 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 tier1 - - 28 0 0.00 10 8 44.44 DAO 0 genome.wustl.edu 37 12 109293195 109293195 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 109293195 109293195 C T SNP DAO ENST00000228476 human ensembl 74_37 +1 known missense c.856 p.R286C 0.982 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DAO HGNC ENSG00000110887 67 0 0.00 57 3 5.00 DBF4B 0 genome.wustl.edu 37 17 42828478 42828478 + Silent SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 17 42828478 42828478 C A SNP DBF4B ENST00000315005 human ensembl 74_37 +1 known silent c.1705 p.R569 0.000 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4B HGNC ENSG00000161692 69 0 0.00 55 3 5.17 DCAF4 0 genome.wustl.edu 37 14 73423169 73423169 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 14 73423169 73423169 C T SNP DCAF4 ENST00000358377 human ensembl 74_37 +1 known missense c.1255 p.P419S 1.000 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 DCAF4 HGNC ENSG00000119599 tier1 - - 67 0 0.00 37 4 9.76 DCHS1 0 genome.wustl.edu 37 11 6647467 6647467 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 6647467 6647467 C T SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.6509 p.R2170H 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 tier1 rs147106756 - 23 0 0.00 13 4 23.53 DCHS2 0 genome.wustl.edu 37 4 155158150 155158150 + Missense_Mutation SNP T T G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 4 155158150 155158150 T G SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.6289 p.K2097Q 0.001 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 78 0 0.00 48 10 17.24 DEPDC5 0 genome.wustl.edu 37 22 32206513 32206513 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 22 32206513 32206513 G T SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.1331 p.G444V 0.947 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 tier1 - - 78 0 0.00 73 4 5.19 DHCR7 0 genome.wustl.edu 37 11 71155041 71155041 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 71155041 71155041 G T SNP DHCR7 ENST00000355527 human ensembl 74_37 -1 known missense c.319 p.Q107K 1.000 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24 - no_errors DHCR7 HGNC ENSG00000172893 tier1 - - 74 0 0.00 54 4 6.90 DHX32 0 genome.wustl.edu 37 10 127569206 127569206 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 10 127569206 127569206 G T SNP DHX32 ENST00000284690 human ensembl 74_37 -1 known missense c.188 p.P63H 1.000 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC ENSG00000089876 tier1 - - 56 0 0.00 38 4 9.52 DMD 0 genome.wustl.edu 37 X 31224764 31224764 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db X 31224764 31224764 C T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.9584 p.R3195H 1.000 pfam_EF-hand_dom_typ1,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 20 0 0.00 18 5 21.74 DNAH5 0 genome.wustl.edu 37 5 13717530 13717530 + Missense_Mutation SNP T T G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 13717530 13717530 T G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.12599 p.K4200T 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 38 0 0.00 31 9 22.50 DNAH5 0 genome.wustl.edu 37 5 13717543 13717543 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 13717543 13717543 G T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.12586 p.Q4196K 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 44 0 0.00 33 2 5.71 DNAH7 0 genome.wustl.edu 37 2 196729724 196729724 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 2 196729724 196729724 G A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.6655 p.R2219C 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 - - 39 0 0.00 20 5 20.00 DPP8 0 genome.wustl.edu 37 15 65756200 65756200 + Missense_Mutation SNP T T C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 15 65756200 65756200 T C SNP DPP8 ENST00000341861 human ensembl 74_37 -1 known missense c.1918 p.S640G 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC ENSG00000074603 tier1 - - 35 0 0.00 37 4 9.76 DST 0 genome.wustl.edu 37 6 56484508 56484508 + Missense_Mutation SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 6 56484508 56484508 C A SNP DST ENST00000370765 human ensembl 74_37 -1 known missense c.4324 p.G1442C 0.000 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 tier1 - - 64 0 0.00 49 4 7.55 EDA2R 0 genome.wustl.edu 37 X 65822517 65822517 + Missense_Mutation SNP A A C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db X 65822517 65822517 A C SNP EDA2R ENST00000253392 human ensembl 74_37 -1 known missense c.475 p.F159V 0.975 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_27 - no_errors EDA2R HGNC ENSG00000131080 tier1 - - 17 0 0.00 10 6 37.50 EIF4A2 0 genome.wustl.edu 37 3 186504993 186504993 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 3 186504993 186504993 G T SNP EIF4A2 ENST00000440191 human ensembl 74_37 +1 known missense c.852 p.R284S 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C 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 EIF4A2 HGNC ENSG00000156976 65 0 0.00 41 4 8.89 ELMO1 0 genome.wustl.edu 37 7 37251021 37251021 + Nonsense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 7 37251021 37251021 G T SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known nonsense c.1056 p.Y352* 1.000 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 82 0 0.00 75 4 5.06 ENSG00000232274 0 genome.wustl.edu 37 1 143207727 143207727 + RNA SNP T T G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 143207727 143207727 T G SNP ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.315 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 - - 120 0 0.00 119 13 9.85 ENSG00000234677 0 genome.wustl.edu 37 10 125673543 125673543 + Splice_Site SNP A A C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 10 125673543 125673543 A C SNP ENSG00000234677 ENST00000435782 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.004 - - - no_errors RP11-285A18.2 Clone_based_vega_gene ENSG00000234677 tier1 - - 68 0 0.00 38 15 28.30 ENSG00000267420 0 genome.wustl.edu 37 17 42009954 42009954 + RNA SNP A A G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 17 42009954 42009954 A G SNP ENSG00000267420 ENST00000592842 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-527L4.6 Clone_based_vega_gene ENSG00000267420 tier1 - - 23 0 0.00 15 6 28.57 ENSG00000271554 0 genome.wustl.edu 37 1 36475027 36475027 + RNA DEL A A - TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 36475027 36475027 A - DEL ENSG00000271554 ENST00000479395 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors RP4-665N4.8 Clone_based_vega_gene ENSG00000271554 tier1 18 0 0.00 15 3 16.67 EPB41L4A 0 genome.wustl.edu 37 5 111504484 111504484 + Silent SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 111504484 111504484 C T SNP EPB41L4A ENST00000261486 human ensembl 74_37 -1 known silent c.1884 p.V628 1.000 NULL pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4A HGNC ENSG00000129595 tier1 - - 66 0 0.00 47 4 7.84 EPHB6 0 genome.wustl.edu 37 7 142568320 142568320 + Missense_Mutation SNP T T A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 7 142568320 142568320 T A SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known missense c.2839 p.F947I 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_SAM/pointed,smart_SAM pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 tier1 - - 53 0 0.00 41 8 16.33 ETFDH 0 genome.wustl.edu 37 4 159629656 159629656 + Nonsense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 4 159629656 159629656 G T SNP ETFDH ENST00000511912 human ensembl 74_37 +1 known nonsense c.1831 p.G611* 1.000 NULL pfam_ETFD_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors ETFDH HGNC ENSG00000171503 tier1 - - 75 0 0.00 57 4 6.56 F13B 0 genome.wustl.edu 37 1 197021845 197021845 + Missense_Mutation SNP A A C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 197021845 197021845 A C SNP F13B ENST00000367412 human ensembl 74_37 -1 known missense c.1474 p.L492V 0.006 superfamily_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 tier1 - - 39 0 0.00 66 9 12.00 F8 0 genome.wustl.edu 37 X 154158656 154158656 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db X 154158656 154158656 G T SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.3409 p.L1137M 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 15 0 0.00 19 4 17.39 FAM171A2 0 genome.wustl.edu 37 17 42432356 42432356 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 17 42432356 42432356 G A SNP FAM171A2 ENST00000293443 human ensembl 74_37 -1 known missense c.1226 p.A409V 0.065 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors FAM171A2 HGNC ENSG00000161682 tier1 - - 111 0 0.00 70 7 9.09 FAM186B 0 genome.wustl.edu 37 12 49999107 49999107 + Frame_Shift_Del DEL C C - TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 49999107 49999107 C - DEL FAM186B ENST00000533372 human ensembl 74_37 -1 known frame_shift_del c.154 p.A52fs 0.077 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 tier1 42 0 0.00 22 2 8.33 FAM19A5 0 genome.wustl.edu 37 22 49145967 49145969 + RNA DEL GAG GAG - TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 22 49145967 49145969 GAG - DEL FAM19A5 ENST00000473898 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.000:0.000 - - - no_errors FAM19A5 HGNC ENSG00000219438 tier1 41 0 0.00 28 2 6.67 FAM218A 0 genome.wustl.edu 37 4 165878495 165878495 + Silent SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 4 165878495 165878495 G A SNP FAM218A ENST00000513876 human ensembl 74_37 +1 known silent c.321 p.T107 0.000 NULL NULL - no_errors FAM218A HGNC ENSG00000250486 tier1 - - 56 0 0.00 29 4 12.12 FANCD2 0 genome.wustl.edu 37 3 10108913 10108913 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 3 10108913 10108913 G T SNP FANCD2 ENST00000287647 human ensembl 74_37 +1 known missense c.2406 p.Q802H 0.852 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 tier1 rs80258959 - 32 0 0.00 24 3 11.11 FBN2 0 genome.wustl.edu 37 5 127610319 127610319 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 127610319 127610319 G T SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.7651 p.L2551M 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 71 0 0.00 48 4 7.69 FDXACB1 0 genome.wustl.edu 37 11 111749781 111749781 + Nonsense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 111749781 111749781 G A SNP FDXACB1 ENST00000260257 human ensembl 74_37 -1 known nonsense c.76 p.Q26* 0.000 pfam_DUF2431 pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd - no_errors FDXACB1 HGNC ENSG00000255561 tier1 - - 179 0 0.00 91 28 23.53 FGA 0 genome.wustl.edu 37 4 155507462 155507462 + Nonsense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 4 155507462 155507462 C T SNP FGA ENST00000302053 human ensembl 74_37 -1 known nonsense c.1119 p.W373* 0.013 NULL pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGA HGNC ENSG00000171560 tier1 - - 68 0 0.00 53 8 13.11 FGD5 0 genome.wustl.edu 37 3 14965554 14965554 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 3 14965554 14965554 G T SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known missense c.3977 p.R1326L 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 50 0 0.00 33 4 10.81 FLJ46361 0 genome.wustl.edu 37 10 124516522 124516522 + RNA SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 10 124516522 124516522 C T SNP FLJ46361 ENST00000439464 human ensembl 74_37 +1 known rna NULL NULL 0.983 - - - no_errors RP11-318C4.2 Clone_based_vega_gene ENSG00000176584 39 0 0.00 41 4 8.89 FLRT2 0 genome.wustl.edu 37 14 86089572 86089572 + Missense_Mutation SNP T T C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 14 86089572 86089572 T C SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.1714 p.Y572H 1.000 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 tier1 - - 21 0 0.00 19 9 32.14 FMN2 0 genome.wustl.edu 37 1 240256817 240256817 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 240256817 240256817 C T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.1408 p.R470W 0.742 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 30 0 0.00 36 3 7.69 FSHR 0 genome.wustl.edu 37 2 49190059 49190059 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 2 49190059 49190059 C T SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.1901 p.R634H 1.000 prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 tier1 - - 61 0 0.00 21 7 25.00 GAMT 0 genome.wustl.edu 37 19 1399827 1399827 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 1399827 1399827 G A SNP GAMT ENST00000447102 human ensembl 74_37 -1 known missense c.292 p.R98W 1.000 NULL NULL - no_errors GAMT HGNC ENSG00000130005 tier1 - - 50 0 0.00 29 4 12.12 GCLC 0 genome.wustl.edu 37 6 53363689 53363689 + Silent SNP T T G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 6 53363689 53363689 T G SNP GCLC ENST00000229416 human ensembl 74_37 -1 known silent c.1779 p.I593 0.847 pfam_GCS pfam_GCS - no_errors GCLC HGNC ENSG00000001084 36 0 0.00 40 3 6.98 GCNT4 0 genome.wustl.edu 37 5 74325823 74325823 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 74325823 74325823 G T SNP GCNT4 ENST00000322348 human ensembl 74_37 -1 known missense c.40 p.Q14K 0.997 NULL pfam_Glyco_trans_14 - no_errors GCNT4 HGNC ENSG00000176928 38 0 0.00 35 4 10.26 GDI1 0 genome.wustl.edu 37 X 153668793 153668793 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db X 153668793 153668793 G A SNP GDI1 ENST00000447750 human ensembl 74_37 +1 known missense c.659 p.G220D 1.000 pfam_GDP_dissociation_inhibitor,prints_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI1 HGNC ENSG00000203879 tier1 - - 32 0 0.00 30 4 11.76 GOLGA8A 0 genome.wustl.edu 37 15 34673778 34673778 + Missense_Mutation SNP G G C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 15 34673778 34673778 G C SNP GOLGA8A ENST00000432566 human ensembl 74_37 -1 known missense c.1736 p.P579R 0.020 NULL NULL - no_errors GOLGA8A HGNC ENSG00000175265 tier1 - - 173 0 0.00 86 32 27.12 GPR116 0 genome.wustl.edu 37 6 46826150 46826150 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 6 46826150 46826150 G T SNP GPR116 ENST00000265417 human ensembl 74_37 -1 known missense c.3490 p.L1164I 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_Ig-hepta_rcpt pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 57 0 0.00 57 3 5.00 GPR98 0 genome.wustl.edu 37 5 89971204 89971204 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 89971204 89971204 G T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.5255 p.R1752M 0.258 pfam_Calx_beta,smart_Calx_beta 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 - - 75 0 0.00 58 4 6.45 GRAP2 0 genome.wustl.edu 37 22 40356069 40356069 + Nonsense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 22 40356069 40356069 G T SNP GRAP2 ENST00000344138 human ensembl 74_37 +1 known nonsense c.181 p.E61* 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors GRAP2 HGNC ENSG00000100351 111 0 0.00 65 4 5.80 GSK3B 0 genome.wustl.edu 37 3 119624622 119624622 + Nonsense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 3 119624622 119624622 G A SNP GSK3B ENST00000316626 human ensembl 74_37 -1 known nonsense c.793 p.Q265* 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors GSK3B HGNC ENSG00000082701 tier1 - - 53 0 0.00 50 4 7.41 GSN 0 genome.wustl.edu 37 9 124064311 124064311 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 9 124064311 124064311 G T SNP GSN ENST00000373818 human ensembl 74_37 +1 known missense c.215 p.R72L 1.000 smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors GSN HGNC ENSG00000148180 tier1 - - 61 0 0.00 38 4 9.52 GSTK1 0 genome.wustl.edu 37 7 142965910 142965910 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 7 142965910 142965910 G A SNP GSTK1 ENST00000479303 human ensembl 74_37 +1 known missense c.829 p.A277T 0.008 superfamily_Thioredoxin-like_fold pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold - no_errors GSTK1 HGNC ENSG00000197448 tier1 - - 56 0 0.00 43 15 25.86 GTPBP3 0 genome.wustl.edu 37 19 17445818 17445818 + Silent SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 17445818 17445818 G A SNP GTPBP3 ENST00000361619 human ensembl 74_37 +1 known silent c.6 p.V2 0.002 NULL pfam_GTP-bd_TrmE_N,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom - no_errors GTPBP3 HGNC ENSG00000130299 tier1 - - 46 0 0.00 40 4 8.89 GUCY2C 0 genome.wustl.edu 37 12 14766072 14766072 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 14766072 14766072 G T SNP GUCY2C ENST00000261170 human ensembl 74_37 -1 known missense c.3201 p.D1067E 0.004 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 121 0 0.00 73 5 6.41 HBP1 0 genome.wustl.edu 37 7 106823018 106823018 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 7 106823018 106823018 C T SNP HBP1 ENST00000222574 human ensembl 74_37 +1 known missense c.370 p.P124S 1.000 NULL pfam_Ataxin-1_HBP1,pfam_HMG_box_dom,superfamily_Ataxin-1_HBP1,superfamily_HMG_box_dom,smart_Ataxin_AXH_dom,smart_HMG_box_dom,pfscan_Ataxin-1_HBP1,pfscan_HMG_box_dom - no_errors HBP1 HGNC ENSG00000105856 tier1 - - 56 0 0.00 40 5 11.11 HDLBP 0 genome.wustl.edu 37 2 242207918 242207918 + RNA SNP T T C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 2 242207918 242207918 T C SNP HDLBP ENST00000462130 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HDLBP HGNC ENSG00000115677 tier1 - - 71 0 0.00 45 6 11.76 HHIPL2 0 genome.wustl.edu 37 1 222712025 222712025 + Silent SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 222712025 222712025 G A SNP HHIPL2 ENST00000343410 human ensembl 74_37 -1 known silent c.1542 p.L514 0.936 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 - - 37 0 0.00 60 5 7.69 HLA-DPB1 0 genome.wustl.edu 37 6 33043881 33043881 + Silent SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 6 33043881 33043881 G T SNP HLA-DPB1 ENST00000418931 human ensembl 74_37 +1 known silent c.63 p.V21 0.054 superfamily_MHC_I/II-like_Ag-recog pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DPB1 HGNC ENSG00000223865 tier1 - - 85 0 0.00 54 4 6.90 HLX 0 genome.wustl.edu 37 1 221055546 221055546 + Silent SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 221055546 221055546 G A SNP HLX ENST00000366903 human ensembl 74_37 +1 known silent c.813 p.T271 0.001 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors HLX HGNC ENSG00000136630 45 0 0.00 40 4 9.09 HUWE1 0 genome.wustl.edu 37 X 53630391 53630391 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db X 53630391 53630391 G T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.2814 p.S938R 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 34 0 0.00 35 4 10.26 IER3 0 genome.wustl.edu 37 6 30712267 30712267 + Missense_Mutation SNP G G C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 6 30712267 30712267 G C SNP IER3 ENST00000259874 human ensembl 74_37 -1 known missense c.29 p.T10S 0.314 NULL NULL - no_errors IER3 HGNC ENSG00000137331 13 0 0.00 7 3 30.00 IFT80 0 genome.wustl.edu 37 3 160156367 160156368 + Frame_Shift_Ins INS - - T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 3 160156367 160156368 - T INS IFT80 ENST00000483754 human ensembl 74_37 -1 known frame_shift_ins c.605_604 p.S202fs 0.000:0.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RP11-432B6.3 Clone_based_vega_gene ENSG00000248710 tier1 33 0 0.00 27 7 20.59 IGFN1 0 genome.wustl.edu 37 1 201182749 201182749 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 201182749 201182749 G T SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.8728 p.G2910C 0.927 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 tier1 - - 39 0 0.00 45 4 8.16 IGSF9B 0 genome.wustl.edu 37 11 133801606 133801606 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 133801606 133801606 G A SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known missense c.1195 p.P399S 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,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 - no_errors IGSF9B HGNC ENSG00000080854 tier1 - - 40 0 0.00 22 4 15.38 IRX4 0 genome.wustl.edu 37 5 1878122 1878122 + Silent SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 1878122 1878122 G A SNP IRX4 ENST00000231357 human ensembl 74_37 -1 known silent c.1521 p.L507 0.021 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX4 HGNC ENSG00000113430 tier1 - - 18 0 0.00 13 4 23.53 ITGA7 0 genome.wustl.edu 37 12 56091595 56091595 + Silent SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 56091595 56091595 G A SNP ITGA7 ENST00000555728 human ensembl 74_37 -1 known silent c.1425 p.G475 0.453 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 tier1 - - 34 0 0.00 27 7 20.59 IVL 0 genome.wustl.edu 37 1 152883269 152883269 + Missense_Mutation SNP A A C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 152883269 152883269 A C SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.996 p.Q332H 0.767 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 tier1 - - 115 0 0.00 98 8 7.34 KAT6A 0 genome.wustl.edu 37 8 41800501 41800501 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 8 41800501 41800501 C T SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.2246 p.R749Q 1.000 superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 tier1 - - 65 0 0.00 58 6 9.38 KCND2 0 genome.wustl.edu 37 7 119915139 119915139 + Silent SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 7 119915139 119915139 C T SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known silent c.453 p.D151 0.859 prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 tier1 - - 21 0 0.00 4 9 69.23 KCNT2 0 genome.wustl.edu 37 1 196397362 196397362 + Missense_Mutation SNP T T C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 196397362 196397362 T C SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.857 p.K286R 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 31 0 0.00 16 7 30.43 KIF26B 0 genome.wustl.edu 37 1 245851229 245851231 + In_Frame_Del DEL CAG CAG - TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 245851229 245851231 CAG - DEL KIF26B ENST00000407071 human ensembl 74_37 +1 known in_frame_del c.4944_4946 p.S1652in_frame_del 0.206:0.210:0.240 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 tier1 32 0 0.00 10 2 16.67 KLHDC10 0 genome.wustl.edu 37 7 129736765 129736765 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 7 129736765 129736765 G T SNP KLHDC10 ENST00000335420 human ensembl 74_37 +1 known missense c.171 p.K57N 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 - no_errors KLHDC10 HGNC ENSG00000128607 37 0 0.00 52 3 5.45 KLHL32 0 genome.wustl.edu 37 6 97423886 97423886 + Silent SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 6 97423886 97423886 C T SNP KLHL32 ENST00000369261 human ensembl 74_37 +1 known silent c.37 p.L13 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL32 HGNC ENSG00000186231 60 0 0.00 30 2 6.25 KLHL38 0 genome.wustl.edu 37 8 124663967 124663967 + Silent SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 8 124663967 124663967 G A SNP KLHL38 ENST00000325995 human ensembl 74_37 -1 known silent c.1200 p.S400 0.986 pfam_Kelch_1,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 KLHL38 HGNC ENSG00000175946 24 0 0.00 35 2 5.41 KLKP1 0 genome.wustl.edu 37 19 51391637 51391637 + RNA SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 51391637 51391637 C T SNP KLKP1 ENST00000600104 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors KLKP1 HGNC ENSG00000197588 15 0 0.00 13 4 23.53 KMT2D 0 genome.wustl.edu 37 12 49445673 49445673 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 49445673 49445673 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.1793 p.R598H 0.138 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 - - 76 0 0.00 60 8 11.76 KPNA1 0 genome.wustl.edu 37 3 122180154 122180154 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 3 122180154 122180154 G T SNP KPNA1 ENST00000344337 human ensembl 74_37 -1 known missense c.349 p.P117T 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA1 HGNC ENSG00000114030 59 0 0.00 48 3 5.88 KRT13 0 genome.wustl.edu 37 17 39659587 39659587 + Silent SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 17 39659587 39659587 G T SNP KRT13 ENST00000246635 human ensembl 74_37 -1 known silent c.687 p.I229 0.870 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT13 HGNC ENSG00000171401 84 0 0.00 47 3 6.00 KRTAP11-1 0 genome.wustl.edu 37 21 32253565 32253565 + Silent SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 21 32253565 32253565 G T SNP KRTAP11-1 ENST00000332378 human ensembl 74_37 -1 known silent c.279 p.S93 0.533 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP11-1 HGNC ENSG00000182591 25 0 0.00 13 2 13.33 KRTAP19-4 0 genome.wustl.edu 37 21 31869189 31869189 + Silent SNP A A G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 21 31869189 31869189 A G SNP KRTAP19-4 ENST00000334058 human ensembl 74_37 -1 known silent c.240 p.N80 0.000 NULL pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-4 HGNC ENSG00000186967 tier1 - - 127 0 0.00 59 9 13.24 KY 0 genome.wustl.edu 37 3 134348480 134348480 + Missense_Mutation SNP T T G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 3 134348480 134348480 T G SNP KY ENST00000423778 human ensembl 74_37 -1 known missense c.320 p.K107T 1.000 NULL pfam_Transglutaminase-like,smart_Transglutaminase-like - no_errors KY HGNC ENSG00000174611 tier1 - - 29 0 0.00 28 7 20.00 L1TD1 0 genome.wustl.edu 37 1 62676046 62676046 + Nonsense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 62676046 62676046 G T SNP L1TD1 ENST00000498273 human ensembl 74_37 +1 known nonsense c.1600 p.E534* 0.000 pfam_Transposase_22 pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 tier1 - - 46 0 0.00 36 4 10.00 LBH 0 genome.wustl.edu 37 2 30457270 30457270 + Splice_Site SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 2 30457270 30457270 G A SNP LBH ENST00000395323 human ensembl 74_37 +1 known splice_site c.27-1 e2-1 1.000 - - - no_errors LBH HGNC ENSG00000213626 91 0 0.00 59 4 6.35 LCN9 0 genome.wustl.edu 37 9 138555211 138555211 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 9 138555211 138555211 C T SNP LCN9 ENST00000277526 human ensembl 74_37 +1 known missense c.44 p.A15V 0.544 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Maj_urinary,prints_Odour-bd,prints_Blactoglobulin - no_errors LCN9 HGNC ENSG00000148386 78 0 0.00 51 4 7.27 LGALS2 0 genome.wustl.edu 37 22 37966318 37966318 + Silent SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 22 37966318 37966318 C A SNP LGALS2 ENST00000215886 human ensembl 74_37 -1 known silent c.351 p.L117 0.064 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS2 HGNC ENSG00000100079 47 0 0.00 40 3 6.98 LINC00085 0 genome.wustl.edu 37 19 52197753 52197753 + RNA SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 52197753 52197753 G T SNP LINC00085 ENST00000573266 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00085 HGNC ENSG00000182310 tier1 - - 27 0 0.00 19 4 17.39 LINC00937 0 genome.wustl.edu 37 12 8543176 8543176 + RNA SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 8543176 8543176 G T SNP LINC00937 ENST00000420040 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors LINC00937 HGNC ENSG00000226091 10 0 0.00 9 13 59.09 LINC01020 0 genome.wustl.edu 37 5 5057986 5057986 + RNA SNP A A C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 5057986 5057986 A C SNP LINC01020 ENST00000507599 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC01020 HGNC ENSG00000215231 tier1 - - 41 0 0.00 38 16 29.63 LINGO1 0 genome.wustl.edu 37 15 77907463 77907463 + Silent SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 15 77907463 77907463 G T SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known silent c.786 p.G262 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 tier1 - - 87 0 0.00 64 4 5.88 LIPT2 0 genome.wustl.edu 37 11 74203390 74203390 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 74203390 74203390 G T SNP LIPT2 ENST00000310109 human ensembl 74_37 -1 known missense c.486 p.H162Q 1.000 pfam_BPL_LipA_LipB,tigrfam_Octanoyltransferase pfam_BPL_LipA_LipB,tigrfam_Octanoyltransferase - no_errors LIPT2 HGNC ENSG00000175536 tier1 - - 83 0 0.00 45 4 8.16 LLGL2 0 genome.wustl.edu 37 17 73552199 73552199 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 17 73552199 73552199 G A SNP LLGL2 ENST00000392550 human ensembl 74_37 +1 known missense c.148 p.G50S 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 tier1 - - 177 0 0.00 200 14 6.54 LOC100506060 0 genome.wustl.edu 37 16 70253497 70253497 + RNA SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 16 70253497 70253497 C T SNP LOC100506060 ENST00000573141 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-296I10.6 Clone_based_vega_gene ENSG00000261556 11 0 0.00 11 3 21.43 LOC101927285 0 genome.wustl.edu 37 2 59504864 59504865 + RNA DEL TG TG - TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 2 59504864 59504865 TG 0 DEL LOC101927285 ENST00000409590 human ensembl 74_37 +1 known rna NULL NULL 0.139:0.134 - - - no_errors AC007131.1 Clone_based_vega_gene ENSG00000222030 8 0 0.00 6 2 25.00 LOC101930008 0 genome.wustl.edu 37 16 16414934 16414934 + RNA SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 16 16414934 16414934 C T SNP LOC101930008 ENST00000536260 human ensembl 74_37 +1 known rna NULL NULL 0.036 - - - no_errors AC138969.4 Clone_based_vega_gene ENSG00000183889 tier1 - - 65 0 0.00 32 7 17.95 LRIG2 0 genome.wustl.edu 37 1 113667283 113667283 + RNA DEL T T - TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 113667283 113667283 T - DEL LRIG2 ENST00000466161 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors LRIG2 HGNC ENSG00000198799 tier1 10 0 0.00 8 3 27.27 LRRC55 0 genome.wustl.edu 37 11 56949646 56949646 + Silent SNP T T C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 56949646 56949646 T C SNP LRRC55 ENST00000497933 human ensembl 74_37 +1 known silent c.279 p.D93 0.906 pfam_LRR-contain_N,smart_LRR-contain_N 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 LRRC55 HGNC ENSG00000183908 tier1 - - 115 0 0.00 62 26 29.55 LRRK2 0 genome.wustl.edu 37 12 40716130 40716130 + Missense_Mutation SNP T T A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 40716130 40716130 T A SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.5327 p.L1776H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 84 0 0.00 72 6 7.69 LTBP3 0 genome.wustl.edu 37 11 65320651 65320651 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 65320651 65320651 G T SNP LTBP3 ENST00000301873 human ensembl 74_37 -1 known missense c.1047 p.N349K 1.000 superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 tier1 - - 65 0 0.00 56 4 6.67 LZTS1 0 genome.wustl.edu 37 8 20110624 20110624 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 8 20110624 20110624 C T SNP LZTS1 ENST00000265801 human ensembl 74_37 -1 known missense c.818 p.R273K 1.000 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 tier1 - - 55 0 0.00 83 5 5.68 MACC1 0 genome.wustl.edu 37 7 20201457 20201457 + Missense_Mutation SNP C C G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 7 20201457 20201457 C G SNP MACC1 ENST00000332878 human ensembl 74_37 -1 known missense c.29 p.R10P 0.000 NULL pfam_SH3_2,superfamily_DEATH-like_dom - no_errors MACC1 HGNC ENSG00000183742 tier1 - - 49 0 0.00 51 5 8.77 MADD 0 genome.wustl.edu 37 11 47304039 47304039 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 47304039 47304039 G T SNP MADD ENST00000311027 human ensembl 74_37 +1 known missense c.1577 p.G526V 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 61 0 0.00 65 4 5.80 MAG 0 genome.wustl.edu 37 19 35801001 35801001 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 35801001 35801001 G A SNP MAG ENST00000392213 human ensembl 74_37 +1 known missense c.1456 p.V486I 0.999 NULL pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 tier1 rs142036180 - 33 0 0.00 34 8 19.05 MAMDC4 0 genome.wustl.edu 37 9 139750588 139750588 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 9 139750588 139750588 G T SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known missense c.1707 p.Q569H 0.001 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 59 0 0.00 52 4 7.14 MAMDC4 0 genome.wustl.edu 37 9 139751001 139751001 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 9 139751001 139751001 C T SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known missense c.1931 p.P644L 0.606 superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 24 0 0.00 36 4 10.00 MARK1 0 genome.wustl.edu 37 1 220825486 220825486 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 220825486 220825486 G T SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known missense c.1730 p.R577L 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 tier1 - - 55 0 0.00 45 4 8.16 MARK2 0 genome.wustl.edu 37 11 63670095 63670095 + Silent SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 63670095 63670095 C A SNP MARK2 ENST00000402010 human ensembl 74_37 +1 known silent c.1257 p.T419 0.997 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 120 0 0.00 74 4 5.13 MATN4 0 genome.wustl.edu 37 20 43933303 43933303 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 20 43933303 43933303 C T SNP MATN4 ENST00000372754 human ensembl 74_37 -1 known missense c.208 p.A70T 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A - no_errors MATN4 HGNC ENSG00000124159 tier1 - - 21 0 0.00 30 7 18.92 MCF2 0 genome.wustl.edu 37 X 138667261 138667261 + Silent SNP A A G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db X 138667261 138667261 A G SNP MCF2 ENST00000370578 human ensembl 74_37 -1 known silent c.3144 p.T1048 0.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 tier1 - - 51 0 0.00 41 20 32.26 MECOM 0 genome.wustl.edu 37 3 168819859 168819859 + Silent SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 3 168819859 168819859 G T SNP MECOM ENST00000494292 human ensembl 74_37 -1 known silent c.2733 p.R911 1.000 pfam_Znf_BED_prd 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 - - 53 0 0.00 54 6 10.00 MEGF6 0 genome.wustl.edu 37 1 3425796 3425796 + Silent SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 3425796 3425796 C T SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known silent c.1371 p.P457 0.000 NULL pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 tier1 - - 19 0 0.00 16 4 20.00 METTL13 0 genome.wustl.edu 37 1 171761202 171761202 + Missense_Mutation SNP T T C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 171761202 171761202 T C SNP METTL13 ENST00000361735 human ensembl 74_37 +1 known missense c.1520 p.L507P 1.000 NULL pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 51 0 0.00 58 4 6.45 MGAT3 0 genome.wustl.edu 37 22 39884893 39884893 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 22 39884893 39884893 G A SNP MGAT3 ENST00000341184 human ensembl 74_37 +1 known missense c.1541 p.R514H 0.012 NULL pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 19 0 0.00 20 3 13.04 MIR1200 0 genome.wustl.edu 37 7 36958972 36958972 + RNA SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 7 36958972 36958972 G T SNP MIR1200 ENST00000408398 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR1200 HGNC ENSG00000221325 tier1 - - 51 0 0.00 69 4 5.48 MIR600HG 0 genome.wustl.edu 37 9 125874236 125874236 + RNA SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 9 125874236 125874236 G T SNP MIR600HG ENST00000449175 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors MIR600HG HGNC ENSG00000236901 tier1 - - 80 0 0.00 55 4 6.78 MLKL 0 genome.wustl.edu 37 16 74716588 74716588 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 16 74716588 74716588 C T SNP MLKL ENST00000308807 human ensembl 74_37 -1 known missense c.917 p.R306H 0.127 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLKL HGNC ENSG00000168404 50 0 0.00 44 3 6.38 MLLT6 0 genome.wustl.edu 37 17 36873150 36873150 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 17 36873150 36873150 G A SNP MLLT6 ENST00000325718 human ensembl 74_37 +1 known missense c.1567 p.G523S 0.943 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT6 HGNC ENSG00000108292 tier1 - - 96 0 0.00 59 6 9.23 MLPH 0 genome.wustl.edu 37 2 238402114 238402114 + Silent SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 2 238402114 238402114 C T SNP MLPH ENST00000264605 human ensembl 74_37 +1 known silent c.45 p.A15 0.987 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors MLPH HGNC ENSG00000115648 64 0 0.00 47 4 7.84 MOB3C 0 genome.wustl.edu 37 1 47080726 47080726 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 47080726 47080726 G T SNP MOB3C ENST00000271139 human ensembl 74_37 -1 known missense c.23 p.A8D 0.000 NULL pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB3C HGNC ENSG00000142961 tier1 - - 62 0 0.00 51 4 7.27 MRC1 0 genome.wustl.edu 37 10 18145181 18145181 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 10 18145181 18145181 G T SNP MRC1 ENST00000239761 human ensembl 74_37 +1 known missense c.1418 p.W473L 1.000 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1 HGNC ENSG00000120586 tier1 - - 25 0 0.00 15 4 21.05 MRPL16 0 genome.wustl.edu 37 11 59577339 59577339 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 59577339 59577339 G T SNP MRPL16 ENST00000300151 human ensembl 74_37 -1 known missense c.110 p.P37Q 0.987 NULL pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,prints_Ribosomal_L16 - no_errors MRPL16 HGNC ENSG00000166902 tier1 - - 68 0 0.00 38 4 9.52 MRPL22 0 genome.wustl.edu 37 5 154336728 154336728 + Missense_Mutation SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 154336728 154336728 C A SNP MRPL22 ENST00000523037 human ensembl 74_37 +1 known missense c.295 p.Q99K 1.000 pfam_Ribosomal_L22,superfamily_Ribosomal_L22 pfam_Ribosomal_L22,superfamily_Ribosomal_L22 - no_errors MRPL22 HGNC ENSG00000082515 tier1 - - 88 0 0.00 76 4 5.00 MRPS14 0 genome.wustl.edu 37 1 174987553 174987553 + Splice_Site SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 174987553 174987553 C T SNP MRPS14 ENST00000476371 human ensembl 74_37 -1 known splice_site c.204+1 e2+1 1.000 - - - no_errors MRPS14 HGNC ENSG00000120333 tier1 - - 62 0 0.00 65 4 5.80 MTUS2 0 genome.wustl.edu 37 13 29933537 29933537 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 13 29933537 29933537 C T SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.3074 p.A1025V 0.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 rs201118258 - 77 0 0.00 48 13 21.31 MUC12 0 genome.wustl.edu 37 7 100635141 100635141 + Missense_Mutation SNP C C G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 7 100635141 100635141 C G SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.1297 p.R433G 0.145 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 132 0 0.00 63 51 44.74 MUC2 0 genome.wustl.edu 37 11 1103846 1103846 + Silent SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 1103846 1103846 C T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known silent c.8145 p.T2715 0.003 smart_Cys_knot_C,pfscan_Cys_knot_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 tier1 - - 63 0 0.00 55 5 8.33 MUC6 0 genome.wustl.edu 37 11 1016412 1016414 + In_Frame_Del DEL GAG GAG - TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 1016412 1016414 GAG - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known in_frame_del c.6389_6387 p.S2130in_frame_del 0.002:0.002:0.018 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 55 0 0.00 25 5 16.67 MYBPC2 0 genome.wustl.edu 37 19 50944200 50944200 + Silent SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 50944200 50944200 G A SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known silent c.636 p.P212 0.995 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 tier1 - - 54 0 0.00 41 4 8.89 MYCBP2 0 genome.wustl.edu 37 13 77740653 77740653 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 13 77740653 77740653 C T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.6151 p.E2051K 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 24 0 0.00 28 2 6.67 MYEOV 0 genome.wustl.edu 37 11 69063836 69063836 + Missense_Mutation SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 69063836 69063836 C A SNP MYEOV ENST00000308946 human ensembl 74_37 +1 known missense c.919 p.L307I 0.000 NULL NULL - no_errors MYEOV HGNC ENSG00000172927 25 0 0.00 19 3 13.64 MYO10 0 genome.wustl.edu 37 5 16701589 16701589 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 16701589 16701589 G T SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.2915 p.A972D 0.011 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 32 0 0.00 40 4 9.09 MYO18B 0 genome.wustl.edu 37 22 26348261 26348261 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 22 26348261 26348261 G T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.5842 p.A1948S 0.999 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 - - 39 0 0.00 33 4 10.81 MYOM2 0 genome.wustl.edu 37 8 2000309 2000309 + Silent SNP C C G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 8 2000309 2000309 C G SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.141 p.S47 0.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 tier1 - - 44 0 0.00 32 5 13.51 MYT1L 0 genome.wustl.edu 37 2 1926321 1926321 + Missense_Mutation SNP T T C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 2 1926321 1926321 T C SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.1220 p.E407G 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 51 0 0.00 41 13 24.07 NAA15 0 genome.wustl.edu 37 4 140291507 140291507 + Missense_Mutation SNP T T G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 4 140291507 140291507 T G SNP NAA15 ENST00000296543 human ensembl 74_37 +1 known missense c.1896 p.D632E 1.000 pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 tier1 - - 48 0 0.00 48 8 14.29 NAA20 0 genome.wustl.edu 37 20 20013263 20013263 + Silent SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 20 20013263 20013263 G T SNP NAA20 ENST00000334982 human ensembl 74_37 +1 known silent c.417 p.S139 0.618 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA20 HGNC ENSG00000173418 tier1 - - 81 0 0.00 74 4 5.13 NAP1L2 0 genome.wustl.edu 37 X 72433664 72433666 + In_Frame_Del DEL TCC TCC - TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db X 72433664 72433666 TCC - DEL NAP1L2 ENST00000373517 human ensembl 74_37 -1 known in_frame_del c.665_663 p.E221in_frame_del 0.004:0.003:0.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L2 HGNC ENSG00000186462 tier1 23 0 0.00 29 5 14.71 NEDD8 0 genome.wustl.edu 37 14 24686231 24686231 + RNA SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 14 24686231 24686231 G T SNP NEDD8 ENST00000526430 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NEDD8 HGNC ENSG00000129559 tier1 - - 32 0 0.00 37 4 9.76 NEK5 0 genome.wustl.edu 37 13 52636037 52636037 + RNA SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 13 52636037 52636037 C T SNP NEK5 ENST00000529080 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors NEK5 HGNC ENSG00000197168 tier1 - - 52 0 0.00 58 4 6.45 NME7 0 genome.wustl.edu 37 1 169256597 169256597 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 169256597 169256597 G T SNP NME7 ENST00000367811 human ensembl 74_37 -1 known missense c.698 p.T233N 1.000 pirsf_NDK7 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase - no_errors NME7 HGNC ENSG00000143156 tier1 - - 43 0 0.00 53 4 7.02 NOTCH3 0 genome.wustl.edu 37 19 15302299 15302299 + Silent SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 15302299 15302299 G A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known silent c.972 p.F324 1.000 pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 rs149725987 - 51 0 0.00 38 10 20.83 NSD1 0 genome.wustl.edu 37 5 176638912 176638912 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 176638912 176638912 G T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.3512 p.R1171L 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 44 0 0.00 32 2 5.71 NSD1 0 genome.wustl.edu 37 5 176719030 176719030 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 176719030 176719030 G A SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.6334 p.E2112K 1.000 superfamily_Znf_FYVE_PHD pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 54 0 0.00 43 3 6.52 NUP153 0 genome.wustl.edu 37 6 17633076 17633076 + Splice_Site SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 6 17633076 17633076 C A SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known splice_site c.2558-1 e18-1 0.996 - - - no_errors NUP153 HGNC ENSG00000124789 tier1 - - 33 0 0.00 27 8 22.86 OR10X1 0 genome.wustl.edu 37 1 158549213 158549213 + Missense_Mutation SNP T T G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 158549213 158549213 T G SNP OR10X1 ENST00000368150 human ensembl 74_37 -1 known missense c.477 p.Q159H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC ENSG00000186400 tier1 - - 36 0 0.00 34 6 15.00 OR2C3 0 genome.wustl.edu 37 1 247695607 247695607 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 247695607 247695607 G T SNP OR2C3 ENST00000366487 human ensembl 74_37 -1 known missense c.207 p.F69L 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2C3 HGNC ENSG00000196242 tier1 - - 72 0 0.00 68 4 5.56 OR2D3 0 genome.wustl.edu 37 11 6943185 6943185 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 6943185 6943185 G T SNP OR2D3 ENST00000317834 human ensembl 74_37 +1 known missense c.953 p.R318M 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2D3 HGNC ENSG00000178358 tier1 - - 56 0 0.00 48 4 7.69 OR2M4 0 genome.wustl.edu 37 1 248403118 248403118 + Missense_Mutation SNP A A C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 248403118 248403118 A C SNP OR2M4 ENST00000306687 human ensembl 74_37 +1 known missense c.888 p.E296D 0.462 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M4 HGNC ENSG00000171180 tier1 - - 28 0 0.00 26 8 23.53 OR2T6 0 genome.wustl.edu 37 1 248551763 248551763 + Nonsense_Mutation SNP T T G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 248551763 248551763 T G SNP OR2T6 ENST00000355728 human ensembl 74_37 +1 known nonsense c.854 p.L285* 0.740 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2T6 HGNC ENSG00000198104 tier1 - - 39 0 0.00 24 12 33.33 OR4C13 0 genome.wustl.edu 37 11 49974054 49974054 + Missense_Mutation SNP T T A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 49974054 49974054 T A SNP OR4C13 ENST00000555099 human ensembl 74_37 +1 known missense c.80 p.V27D 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C13 HGNC ENSG00000258817 tier1 - - 73 0 0.00 45 6 11.76 OR4C6 0 genome.wustl.edu 37 11 55433080 55433080 + Silent SNP T T C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 55433080 55433080 T C SNP OR4C6 ENST00000314259 human ensembl 74_37 +1 known silent c.438 p.A146 0.913 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C6 HGNC ENSG00000181903 tier1 - - 69 0 0.00 55 5 8.33 OR5A2 0 genome.wustl.edu 37 11 59189883 59189883 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 59189883 59189883 G T SNP OR5A2 ENST00000302040 human ensembl 74_37 -1 known missense c.544 p.L182I 0.926 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 OR5A2 HGNC ENSG00000172324 37 0 0.00 33 2 5.71 OR6M1 0 genome.wustl.edu 37 11 123676267 123676267 + Nonsense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 123676267 123676267 G T SNP OR6M1 ENST00000309154 human ensembl 74_37 -1 known nonsense c.791 p.S264* 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6M1 HGNC ENSG00000196099 tier1 - - 59 0 0.00 42 10 19.23 OR6Y1 0 genome.wustl.edu 37 1 158517076 158517076 + Missense_Mutation SNP T T A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 158517076 158517076 T A SNP OR6Y1 ENST00000302617 human ensembl 74_37 -1 known missense c.820 p.N274Y 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Y1 HGNC ENSG00000197532 tier1 - - 52 0 0.00 37 12 24.49 OR8H1 0 genome.wustl.edu 37 11 56058494 56058494 + Silent SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 56058494 56058494 C T SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known silent c.45 p.T15 0.002 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H1 HGNC ENSG00000181693 41 0 0.00 34 3 8.11 PALB2 0 genome.wustl.edu 37 16 23646351 23646351 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 16 23646351 23646351 G T SNP PALB2 ENST00000261584 human ensembl 74_37 -1 known missense c.1516 p.Q506K 0.000 NULL superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 tier1 - - 91 0 0.00 71 4 5.33 PCDH15 0 genome.wustl.edu 37 10 55582052 55582052 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 10 55582052 55582052 G A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.5434 p.P1812S 0.060 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 27 0 0.00 8 4 33.33 PCDHB7 0 genome.wustl.edu 37 5 140552670 140552670 + Missense_Mutation SNP T T G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 140552670 140552670 T G SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.254 p.L85R 0.004 pfam_Cadherin_N,superfamily_Cadherin-like,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 tier1 - - 51 0 0.00 38 7 15.56 PCDHB8 0 genome.wustl.edu 37 5 140559406 140559406 + Silent SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 140559406 140559406 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known silent c.1791 p.S597 0.956 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 PCDHB8 HGNC ENSG00000120322 191 0 0.00 124 10 7.41 PCDHGC3 0 genome.wustl.edu 37 5 140857013 140857013 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 140857013 140857013 C T SNP PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known missense c.1330 p.R444C 0.007 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 PCDHGC3 HGNC ENSG00000240184 74 0 0.00 36 2 5.26 PDCD11 0 genome.wustl.edu 37 10 105193741 105193741 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 10 105193741 105193741 G T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.3511 p.A1171S 0.989 superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 86 0 0.00 46 4 7.84 PDE7B 0 genome.wustl.edu 37 6 136468525 136468525 + Missense_Mutation SNP A A G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 6 136468525 136468525 A G SNP PDE7B ENST00000308191 human ensembl 74_37 +1 known missense c.203 p.K68R 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7B HGNC ENSG00000171408 tier1 - - 58 0 0.00 47 4 7.84 PDZD2 0 genome.wustl.edu 37 5 32074390 32074390 + Missense_Mutation SNP A A G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 32074390 32074390 A G SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.3178 p.T1060A 0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 - - 46 0 0.00 29 11 27.50 PDZD2 0 genome.wustl.edu 37 5 32077649 32077649 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 32077649 32077649 G T SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.3619 p.A1207S 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 33 0 0.00 27 3 10.00 PFKL 0 genome.wustl.edu 37 21 45725224 45725224 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 21 45725224 45725224 G T SNP PFKL ENST00000403390 human ensembl 74_37 +1 known missense c.14 p.G5V 0.000 pirsf_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKL HGNC ENSG00000141959 tier1 - - 91 0 0.00 45 4 8.16 PGBD1 0 genome.wustl.edu 37 6 28264657 28264657 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 6 28264657 28264657 G T SNP PGBD1 ENST00000259883 human ensembl 74_37 +1 known missense c.707 p.S236I 0.004 superfamily_Krueppel-associated_box pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 53 0 0.00 49 3 5.77 PHGDH 0 genome.wustl.edu 37 1 120277963 120277963 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 120277963 120277963 G A SNP PHGDH ENST00000369409 human ensembl 74_37 +1 known missense c.689 p.R230H 0.882 pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,tigrfam_D-3-Phosphoglycerate_DH pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,tigrfam_D-3-Phosphoglycerate_DH - no_errors PHGDH HGNC ENSG00000092621 tier1 - - 40 0 0.00 39 12 23.53 PHTF1 0 genome.wustl.edu 37 1 114248546 114248546 + Frame_Shift_Del DEL A A - TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 114248546 114248546 A - DEL PHTF1 ENST00000369604 human ensembl 74_37 -1 known frame_shift_del c.1637 p.F546fs 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 tier1 28 0 0.00 43 3 6.52 PLA2G6 0 genome.wustl.edu 37 22 38565366 38565366 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 22 38565366 38565366 C T SNP PLA2G6 ENST00000332509 human ensembl 74_37 -1 known missense c.68 p.R23Q 1.000 NULL pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC ENSG00000184381 tier1 - - 31 0 0.00 13 6 31.58 PPP1R14D 0 genome.wustl.edu 37 15 41120652 41120652 + Missense_Mutation SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 15 41120652 41120652 C A SNP PPP1R14D ENST00000427255 human ensembl 74_37 -1 known missense c.188 p.R63L 0.987 pfam_PP1_inhibitor,superfamily_PP1_inhibitor pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14D HGNC ENSG00000166143 tier1 - - 78 0 0.00 41 11 21.15 PPP2R5C 0 genome.wustl.edu 37 14 102378890 102378891 + RNA INS - - G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 14 102378890 102378891 - G INS PPP2R5C ENST00000556218 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors PPP2R5C HGNC ENSG00000078304 tier1 16 0 0.00 14 4 22.22 PRB4 0 genome.wustl.edu 37 12 11462332 11462332 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 11462332 11462332 G T SNP PRB4 ENST00000279575 human ensembl 74_37 -1 known missense c.72 p.S24R 0.000 NULL NULL - no_errors PRB4 HGNC ENSG00000230657 tier1 - - 86 0 0.00 46 4 8.00 PRIM1 0 genome.wustl.edu 37 12 57127930 57127930 + Splice_Site SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 57127930 57127930 C T SNP PRIM1 ENST00000338193 human ensembl 74_37 -1 known splice_site c.1243+1 e12+1 1.000 - - - no_errors PRIM1 HGNC ENSG00000198056 tier1 - - 33 0 0.00 42 4 8.70 PRKACG 0 genome.wustl.edu 37 9 71628850 71628850 + Silent SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 9 71628850 71628850 G T SNP PRKACG ENST00000377276 human ensembl 74_37 -1 known silent c.159 p.G53 0.974 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,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACG HGNC ENSG00000165059 tier1 - - 58 0 0.00 41 4 8.89 PROX1 0 genome.wustl.edu 37 1 214170645 214170645 + Missense_Mutation SNP A A C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 214170645 214170645 A C SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.767 p.K256T 1.000 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 tier1 - - 21 0 0.00 15 5 25.00 PSAT1 0 genome.wustl.edu 37 9 80921272 80921272 + Missense_Mutation SNP C C G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 9 80921272 80921272 C G SNP PSAT1 ENST00000376588 human ensembl 74_37 +1 known missense c.440 p.S147C 1.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr - no_errors PSAT1 HGNC ENSG00000135069 tier1 - - 59 0 0.00 34 15 30.61 PTPN22 0 genome.wustl.edu 37 1 114377580 114377580 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 114377580 114377580 G T SNP PTPN22 ENST00000359785 human ensembl 74_37 -1 known missense c.1846 p.P616T 1.000 pirsf_Non-rcpt_Tyr_Pase_8/22 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN22 HGNC ENSG00000134242 tier1 - - 61 0 0.00 44 4 8.33 PTPRQ 0 genome.wustl.edu 37 12 81063245 81063246 + Splice_Site INS - - A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 81063245 81063246 - A INS PTPRQ ENST00000266688 human ensembl 74_37 +1 known splice_site_ins c.6441+2_6441+1 e46+2 1.000:1.000 - - - no_errors PTPRQ HGNC ENSG00000139304 tier1 33 0 0.00 23 4 14.81 PTPRQ 0 genome.wustl.edu 37 12 80935615 80935615 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 80935615 80935615 G A SNP PTPRQ ENST00000266688 human ensembl 74_37 +1 known missense c.3424 p.E1142K 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC ENSG00000139304 27 0 0.00 22 2 8.33 PXDN 0 genome.wustl.edu 37 2 1668815 1668815 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 2 1668815 1668815 G T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.1323 p.D441E 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 tier1 - - 76 0 0.00 51 22 30.14 RABL6 0 genome.wustl.edu 37 9 139734633 139734635 + In_Frame_Del DEL AGA AGA - TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 9 139734633 139734635 AGA - DEL RABL6 ENST00000371663 human ensembl 74_37 +1 known in_frame_del c.1961_1963 p.K658in_frame_del 1.000:1.000:1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC ENSG00000196642 tier1 40 0 0.00 29 7 19.44 RAD54B 0 genome.wustl.edu 37 8 95390589 95390589 + Silent SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 8 95390589 95390589 G T SNP RAD54B ENST00000336148 human ensembl 74_37 -1 known silent c.2334 p.I778 0.994 pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54B HGNC ENSG00000197275 30 0 0.00 31 2 6.06 RAP1GAP2 0 genome.wustl.edu 37 17 2808623 2808623 + Silent SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 17 2808623 2808623 G A SNP RAP1GAP2 ENST00000254695 human ensembl 74_37 +1 known silent c.126 p.R42 0.999 NULL pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom - no_errors RAP1GAP2 HGNC ENSG00000132359 tier1 - - 88 0 0.00 46 4 8.00 RBBP6 0 genome.wustl.edu 37 16 24582975 24582975 + Frame_Shift_Del DEL A A - TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 16 24582975 24582975 A - DEL RBBP6 ENST00000319715 human ensembl 74_37 +1 known frame_shift_del c.4588 p.S1532fs 0.967 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 tier1 31 0 0.00 36 2 5.26 RBM15B 0 genome.wustl.edu 37 3 51430822 51430824 + In_Frame_Del DEL CCA CCA - TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 3 51430822 51430824 CCA - DEL RBM15B ENST00000323686 human ensembl 74_37 +1 known in_frame_del c.1992_1994 p.H668in_frame_del 1.000:1.000:0.998 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15B HGNC ENSG00000179837 tier1 16 0 0.00 14 2 12.50 RECQL 0 genome.wustl.edu 37 12 21627896 21627896 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 21627896 21627896 C T SNP RECQL ENST00000421138 human ensembl 74_37 -1 known missense c.1234 p.A412T 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 tier1 - - 23 0 0.00 16 27 62.79 RECQL5 0 genome.wustl.edu 37 17 73626918 73626918 + Splice_Site SNP C C G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 17 73626918 73626918 C G SNP RECQL5 ENST00000317905 human ensembl 74_37 -1 known splice_site c.1586-1 e11-1 1.000 - - - no_errors RECQL5 HGNC ENSG00000108469 38 0 0.00 32 3 8.33 RNF219 0 genome.wustl.edu 37 13 79190358 79190358 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 13 79190358 79190358 G T SNP RNF219 ENST00000282003 human ensembl 74_37 -1 known missense c.1538 p.S513Y 0.999 NULL pfscan_Znf_RING - no_errors RNF219 HGNC ENSG00000152193 20 0 0.00 23 2 8.00 ROR2 0 genome.wustl.edu 37 9 94486191 94486191 + Missense_Mutation SNP T T A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 9 94486191 94486191 T A SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known missense c.2585 p.H862L 1.000 pirsf_Tyr_kinase_rcpt_ROR pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 tier1 - - 70 0 0.00 48 4 7.69 RPH3A 0 genome.wustl.edu 37 12 113285565 113285565 + Missense_Mutation SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 113285565 113285565 C A SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known missense c.148 p.L50M 1.000 pfam_Znf_FYVE-typ,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 tier1 - - 39 0 0.00 23 8 25.81 RPL3 0 genome.wustl.edu 37 22 39712982 39712982 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 22 39712982 39712982 G T SNP RPL3 ENST00000420536 human ensembl 74_37 -1 known missense c.410 p.A137D 1.000 pfam_Ribosomal_L3 pfam_Ribosomal_L3,superfamily_Transl_B-barrel - no_errors RPL3 HGNC ENSG00000100316 tier1 - - 39 0 0.00 29 4 12.12 RPS11 0 genome.wustl.edu 37 19 50000798 50000798 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 50000798 50000798 G T SNP RPS11 ENST00000270625 human ensembl 74_37 +1 known missense c.169 p.D57Y 1.000 tigrfam_Ribosomal_S17_arc-typ pfam_Ribosomal_S17,superfamily_NA-bd_OB-fold,prints_Ribosomal_S17,tigrfam_Ribosomal_S17_arc-typ - no_errors RPS11 HGNC ENSG00000142534 tier1 - - 66 0 0.00 70 4 5.41 RRN3P2 0 genome.wustl.edu 37 16 29097556 29097557 + RNA INS - - AT TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 16 29097556 29097557 - AT INS RRN3P2 ENST00000427965 human ensembl 74_37 +1 known rna NULL NULL 0.997:1.000 - - - no_errors RRN3P2 HGNC ENSG00000103472 tier1 47 0 0.00 33 2 5.71 RYR1 0 genome.wustl.edu 37 19 39019604 39019606 + In_Frame_Del DEL AGG AGG - TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 39019604 39019606 AGG - DEL RYR1 ENST00000359596 human ensembl 74_37 +1 known in_frame_del c.11048_11050 p.E3687in_frame_del 1.000:1.000:1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 21 0 0.00 34 4 10.53 SCEL 0 genome.wustl.edu 37 13 78146268 78146268 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 13 78146268 78146268 G T SNP SCEL ENST00000349847 human ensembl 74_37 +1 known missense c.489 p.W163C 1.000 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 tier1 - - 37 0 0.00 55 4 6.78 SCN2A 0 genome.wustl.edu 37 2 166245699 166245699 + Missense_Mutation SNP T T A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 2 166245699 166245699 T A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.5383 p.F1795I 1.000 prints_Na_channel_asu pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 82 0 0.00 61 19 23.75 SCNN1G 0 genome.wustl.edu 37 16 23205507 23205507 + Frame_Shift_Del DEL C C - TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 16 23205507 23205507 C - DEL SCNN1G ENST00000300061 human ensembl 74_37 +1 known frame_shift_del c.825 p.H276fs 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 tier1 17 0 0.00 21 2 8.70 SDK1 0 genome.wustl.edu 37 7 4245555 4245555 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 7 4245555 4245555 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.5143 p.A1715T 0.976 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 35 0 0.00 34 4 10.53 SEC31A 0 genome.wustl.edu 37 4 83788384 83788384 + Nonsense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 4 83788384 83788384 G T SNP SEC31A ENST00000432794 human ensembl 74_37 -1 known nonsense c.968 p.S323* 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 SEC31A HGNC ENSG00000138674 38 0 0.00 33 2 5.71 SEMA5A 0 genome.wustl.edu 37 5 9337840 9337840 + Missense_Mutation SNP A A G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 9337840 9337840 A G SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.209 p.L70P 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 tier1 - - 52 0 0.00 35 5 12.50 SETD9 0 genome.wustl.edu 37 5 56212655 56212655 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 56212655 56212655 G T SNP SETD9 ENST00000285947 human ensembl 74_37 +1 known missense c.826 p.V276F 1.000 NULL NULL - no_errors SETD9 HGNC ENSG00000155542 tier1 - - 110 0 0.00 64 4 5.88 SFMBT2 0 genome.wustl.edu 37 10 7326106 7326106 + Silent SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 10 7326106 7326106 G T SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known silent c.532 p.R178 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 42 0 0.00 38 2 5.00 SFXN1 0 genome.wustl.edu 37 5 174937167 174937167 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 174937167 174937167 G A SNP SFXN1 ENST00000321442 human ensembl 74_37 +1 known missense c.391 p.V131I 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN1 HGNC ENSG00000164466 tier1 - - 106 0 0.00 66 4 5.71 SH3BP4 0 genome.wustl.edu 37 2 235950407 235950407 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 2 235950407 235950407 C T SNP SH3BP4 ENST00000344528 human ensembl 74_37 +1 known missense c.994 p.L332F 1.000 pfam_ZU5 pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 tier1 - - 28 0 0.00 17 6 26.09 SIGLEC5 0 genome.wustl.edu 37 19 52115505 52115505 + Silent SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 52115505 52115505 C T SNP SIGLEC5 ENST00000222107 human ensembl 74_37 -1 known silent c.1635 p.S545 0.189 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 tier1 - - 72 0 0.00 30 9 23.08 SIRT2 0 genome.wustl.edu 37 19 39384519 39384519 + Silent SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 39384519 39384519 G A SNP SIRT2 ENST00000443898 human ensembl 74_37 -1 known silent c.156 p.P52 0.883 NULL NULL - no_errors SIRT2 HGNC ENSG00000068903 tier1 - - 122 0 0.00 101 32 24.06 SLC30A5 0 genome.wustl.edu 37 5 68417624 68417624 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 68417624 68417624 C T SNP SLC30A5 ENST00000396591 human ensembl 74_37 +1 known missense c.1673 p.S558F 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC ENSG00000145740 31 0 0.00 34 2 5.56 SLC30A8 0 genome.wustl.edu 37 8 118169955 118169955 + Silent SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 8 118169955 118169955 C A SNP SLC30A8 ENST00000456015 human ensembl 74_37 +1 known silent c.444 p.I148 0.892 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A8 HGNC ENSG00000164756 tier1 - - 85 0 0.00 53 14 20.90 SLC35D1 0 genome.wustl.edu 37 1 67516184 67516184 + Missense_Mutation SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 67516184 67516184 C A SNP SLC35D1 ENST00000235345 human ensembl 74_37 -1 known missense c.396 p.L132F 1.000 NULL pfam_Tpt_PEP_trans_dom - no_errors SLC35D1 HGNC ENSG00000116704 tier1 - - 46 0 0.00 60 5 7.69 SLC35G6 0 genome.wustl.edu 37 17 7386176 7386176 + Silent SNP G G C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 17 7386176 7386176 G C SNP SLC35G6 ENST00000412468 human ensembl 74_37 +1 known silent c.873 p.V291 1.000 pfam_DMT pfam_DMT - no_errors SLC35G6 HGNC ENSG00000259224 tier1 - - 189 0 0.00 126 54 30.00 SLC39A2 0 genome.wustl.edu 37 14 21467630 21467630 + Missense_Mutation SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 14 21467630 21467630 C A SNP SLC39A2 ENST00000298681 human ensembl 74_37 +1 known missense c.25 p.L9I 0.501 pfam_ZIP pfam_ZIP - no_errors SLC39A2 HGNC ENSG00000165794 71 0 0.00 35 2 5.41 SMCO3 0 genome.wustl.edu 37 12 14959109 14959109 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 14959109 14959109 C T SNP SMCO3 ENST00000316048 human ensembl 74_37 -1 known missense c.506 p.G169D 1.000 NULL NULL - no_errors SMCO3 HGNC ENSG00000179256 73 0 0.00 58 4 6.45 SNAI2 0 genome.wustl.edu 37 8 49832485 49832485 + Missense_Mutation SNP A A C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 8 49832485 49832485 A C SNP SNAI2 ENST00000020945 human ensembl 74_37 -1 known missense c.595 p.L199V 0.992 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 tier1 - - 63 0 0.00 35 19 35.19 SOBP 0 genome.wustl.edu 37 6 107955614 107955614 + Silent SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 6 107955614 107955614 C T SNP SOBP ENST00000317357 human ensembl 74_37 +1 known silent c.1566 p.T522 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 tier1 - - 70 0 0.00 42 6 12.50 SORBS1 0 genome.wustl.edu 37 10 97194450 97194450 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 10 97194450 97194450 C T SNP SORBS1 ENST00000361941 human ensembl 74_37 -1 known missense c.101 p.R34H 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 tier1 rs139115529 - 48 0 0.00 38 4 9.52 SOX10 0 genome.wustl.edu 37 22 38369997 38369997 + Silent SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 22 38369997 38369997 C T SNP SOX10 ENST00000360880 human ensembl 74_37 -1 known silent c.906 p.P302 0.319 NULL pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX10 HGNC ENSG00000100146 71 0 0.00 53 4 6.90 SP6 0 genome.wustl.edu 37 17 45925508 45925508 + Silent SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 17 45925508 45925508 C T SNP SP6 ENST00000342234 human ensembl 74_37 -1 known silent c.288 p.L96 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP6 HGNC ENSG00000189120 tier1 - - 44 0 0.00 46 4 8.00 SPAG8 0 genome.wustl.edu 37 9 35808160 35808160 + RNA SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 9 35808160 35808160 C T SNP SPAG8 ENST00000463889 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors SPAG8 HGNC ENSG00000137098 tier1 - - 82 0 0.00 69 4 5.48 SPTBN1 0 genome.wustl.edu 37 2 54864938 54864938 + Nonsense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 2 54864938 54864938 G T SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known nonsense c.3856 p.E1286* 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 tier1 - - 54 0 0.00 40 4 9.09 SPTBN2 0 genome.wustl.edu 37 11 66481592 66481592 + Missense_Mutation SNP A A G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 66481592 66481592 A G SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.626 p.L209P 1.000 pirsf_Spectrin_bsu,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 tier1 - - 44 0 0.00 34 4 10.26 STAP2 0 genome.wustl.edu 37 19 4325487 4325487 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 4325487 4325487 G T SNP STAP2 ENST00000600324 human ensembl 74_37 -1 known missense c.885 p.D295E 0.740 NULL pfscan_SH2 - no_errors STAP2 HGNC ENSG00000178078 52 0 0.00 39 4 9.30 SZT2 0 genome.wustl.edu 37 1 43909268 43909268 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 43909268 43909268 C T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.8455 p.R2819W 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 19 0 0.00 25 2 7.41 TBC1D13 0 genome.wustl.edu 37 9 131553894 131553894 + Silent SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 9 131553894 131553894 G T SNP TBC1D13 ENST00000372648 human ensembl 74_37 +1 known silent c.222 p.L74 1.000 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D13 HGNC ENSG00000107021 32 0 0.00 30 2 6.25 TCF4 0 genome.wustl.edu 37 18 53017614 53017614 + Silent SNP T T C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 18 53017614 53017614 T C SNP TCF4 ENST00000398339 human ensembl 74_37 -1 known silent c.831 p.K277 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF4 HGNC ENSG00000196628 tier1 - - 57 0 0.00 41 19 31.67 TCIRG1 0 genome.wustl.edu 37 11 67817454 67817454 + Missense_Mutation SNP A A G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 67817454 67817454 A G SNP TCIRG1 ENST00000265686 human ensembl 74_37 +1 known missense c.2039 p.D680G 0.002 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors TCIRG1 HGNC ENSG00000110719 tier1 - - 23 0 0.00 22 7 24.14 TCTE1 0 genome.wustl.edu 37 6 44253828 44253828 + Missense_Mutation SNP A A G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 6 44253828 44253828 A G SNP TCTE1 ENST00000371505 human ensembl 74_37 -1 known missense c.719 p.L240P 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC ENSG00000146221 tier1 - - 48 0 0.00 52 4 7.14 TDRD15 0 genome.wustl.edu 37 2 21365034 21365034 + Silent SNP A A G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 2 21365034 21365034 A G SNP TDRD15 ENST00000405799 human ensembl 74_37 +1 novel silent c.4695 p.K1565 0.000 pfam_Tudor pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors TDRD15 HGNC ENSG00000218819 tier1 - - 37 0 0.00 18 9 33.33 THADA 0 genome.wustl.edu 37 2 43802152 43802152 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 2 43802152 43802152 G A SNP THADA ENST00000405006 human ensembl 74_37 -1 known missense c.1052 p.T351M 0.997 NULL pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 30 0 0.00 37 2 5.13 TIE1 0 genome.wustl.edu 37 1 43778258 43778258 + Missense_Mutation SNP T T G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 43778258 43778258 T G SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.1913 p.L638R 0.466 superfamily_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 tier1 - - 53 0 0.00 45 9 16.67 TMEM56 0 genome.wustl.edu 37 1 95614300 95614300 + Silent SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 95614300 95614300 C T SNP TMEM56 ENST00000370203 human ensembl 74_37 +1 novel silent c.198 p.G66 0.994 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TMEM56 HGNC ENSG00000152078 tier1 - - 68 0 0.00 80 5 5.88 TMPRSS5 0 genome.wustl.edu 37 11 113563829 113563829 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 113563829 113563829 C T SNP TMPRSS5 ENST00000299882 human ensembl 74_37 -1 known missense c.928 p.A310T 0.999 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS5 HGNC ENSG00000166682 55 0 0.00 49 3 5.77 TOX2 0 genome.wustl.edu 37 20 42602018 42602018 + Silent SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 20 42602018 42602018 C T SNP TOX2 ENST00000341197 human ensembl 74_37 +1 known silent c.111 p.D37 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX2 HGNC ENSG00000124191 71 0 0.00 64 4 5.88 TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.742 p.R248W 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs121912651 - 66 0 0.00 45 12 21.05 TPO 0 genome.wustl.edu 37 2 1459924 1459924 + Missense_Mutation SNP T T G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 2 1459924 1459924 T G SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.689 p.L230R 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 tier1 - - 42 0 0.00 15 17 53.12 TPRX1 0 genome.wustl.edu 37 19 48305105 48305105 + Missense_Mutation SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 48305105 48305105 C A SNP TPRX1 ENST00000535759 human ensembl 74_37 -1 known missense c.1454 p.G485V 0.006 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TPRX1 HGNC ENSG00000178928 64 0 0.00 51 4 7.27 TRDN 0 genome.wustl.edu 37 6 123786032 123786033 + Frame_Shift_Ins INS - - A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 6 123786032 123786033 - A INS TRDN ENST00000546248 human ensembl 74_37 -1 known frame_shift_ins c.890_889 p.S297fs 0.000:0.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 tier1 34 0 0.00 28 4 12.50 TRIM49C 0 genome.wustl.edu 37 11 89771112 89771112 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 11 89771112 89771112 G A SNP TRIM49C ENST00000448984 human ensembl 74_37 +1 known missense c.703 p.E235K 0.000 superfamily_Lambda_DNA-bd_dom pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49C HGNC ENSG00000204449 tier1 - - 20 0 0.00 6 6 50.00 TRPM7 0 genome.wustl.edu 37 15 50925097 50925097 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 15 50925097 50925097 G T SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known missense c.1100 p.T367K 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 tier1 - - 67 0 0.00 76 4 5.00 TSHZ3 0 genome.wustl.edu 37 19 31770238 31770240 + In_Frame_Del DEL CTG CTG - TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 31770238 31770240 CTG - DEL TSHZ3 ENST00000240587 human ensembl 74_37 -1 known in_frame_del c.461_459 p.S157in_frame_del 1.000:1.000:1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 tier1 48 0 0.00 28 3 9.68 TSSK6 0 genome.wustl.edu 37 19 19626190 19626190 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 19626190 19626190 C T SNP TSSK6 ENST00000360913 human ensembl 74_37 -1 known missense c.47 p.R16H 0.643 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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TSSK6 HGNC ENSG00000178093 55 0 0.00 35 2 5.41 TTN 0 genome.wustl.edu 37 2 179393711 179393711 + Silent SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 2 179393711 179393711 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.99063 p.V33021 1.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 84 0 0.00 71 4 5.33 TTN 0 genome.wustl.edu 37 2 179437626 179437626 + Silent SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 2 179437626 179437626 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.65529 p.A21843 0.550 superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 25 0 0.00 22 4 15.38 TWF1 0 genome.wustl.edu 37 12 44194271 44194271 + Silent SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 44194271 44194271 G A SNP TWF1 ENST00000325127 human ensembl 74_37 -1 known silent c.447 p.G149 0.996 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors TWF1 HGNC ENSG00000151239 tier1 - - 45 0 0.00 59 4 6.35 TXNDC16 0 genome.wustl.edu 37 14 52899225 52899225 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 14 52899225 52899225 G A SNP TXNDC16 ENST00000281741 human ensembl 74_37 -1 known missense c.2275 p.R759C 0.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC ENSG00000087301 tier1 - - 57 0 0.00 35 9 20.00 UGT3A1 0 genome.wustl.edu 37 5 35957435 35957435 + Silent SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 5 35957435 35957435 C T SNP UGT3A1 ENST00000274278 human ensembl 74_37 -1 known silent c.930 p.Q310 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC ENSG00000145626 tier1 - - 88 0 0.00 69 26 27.37 UHRF2 0 genome.wustl.edu 37 9 6420988 6420988 + Missense_Mutation SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 9 6420988 6420988 C A SNP UHRF2 ENST00000276893 human ensembl 74_37 +1 known missense c.230 p.P77H 0.998 NULL pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin_dom,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors UHRF2 HGNC ENSG00000147854 34 0 0.00 21 2 8.70 UNC13A 0 genome.wustl.edu 37 19 17750317 17750317 + Silent SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 17750317 17750317 G A SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known silent c.3138 p.S1046 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 tier1 - - 101 0 0.00 76 4 5.00 UNC5C 0 genome.wustl.edu 37 4 96140155 96140155 + Missense_Mutation SNP T T G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 4 96140155 96140155 T G SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.1610 p.N537T 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 70 0 0.00 44 3 6.38 USH2A 0 genome.wustl.edu 37 1 215987084 215987084 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 215987084 215987084 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.9733 p.L3245I 0.013 superfamily_Fibronectin_type3,smart_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 - - 72 0 0.00 69 4 5.48 USH2A 0 genome.wustl.edu 37 1 216011423 216011423 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 1 216011423 216011423 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.9281 p.A3094V 1.000 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 49 0 0.00 44 3 6.25 USP29 0 genome.wustl.edu 37 19 57640428 57640428 + Missense_Mutation SNP A A C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 57640428 57640428 A C SNP USP29 ENST00000254181 human ensembl 74_37 +1 known missense c.385 p.I129L 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP29 HGNC ENSG00000131864 tier1 - - 19 0 0.00 16 9 36.00 USP51 0 genome.wustl.edu 37 X 55515146 55515146 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db X 55515146 55515146 C T SNP USP51 ENST00000500968 human ensembl 74_37 -1 known missense c.227 p.S76N 0.949 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 tier1 - - 52 0 0.00 37 16 30.19 VIL1 0 genome.wustl.edu 37 2 219290359 219290359 + Missense_Mutation SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 2 219290359 219290359 C A SNP VIL1 ENST00000248444 human ensembl 74_37 +1 known missense c.172 p.L58M 0.977 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VIL1 HGNC ENSG00000127831 34 0 0.00 33 2 5.71 VIPR1 0 genome.wustl.edu 37 3 42569372 42569372 + RNA SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 3 42569372 42569372 C T SNP VIPR1 ENST00000473575 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors VIPR1 HGNC ENSG00000114812 tier1 - - 37 0 0.00 20 6 23.08 VPRBP 0 genome.wustl.edu 37 3 51452220 51452220 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 3 51452220 51452220 G A SNP VPRBP ENST00000335891 human ensembl 74_37 -1 known missense c.2348 p.P783L 1.000 superfamily_WD40_repeat_dom,superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC ENSG00000145041 38 0 0.00 17 2 10.53 VPS13B 0 genome.wustl.edu 37 8 100286533 100286533 + Frame_Shift_Del DEL T T - TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 8 100286533 100286533 T - DEL VPS13B ENST00000358544 human ensembl 74_37 +1 known frame_shift_del c.2623 p.S875fs 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 84 0 0.00 81 15 15.62 VPS13B 0 genome.wustl.edu 37 8 100286534 100286534 + Nonsense_Mutation SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 8 100286534 100286534 C A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known nonsense c.2624 p.S875* 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 - - 86 0 0.00 80 20 20.00 VWF 0 genome.wustl.edu 37 12 6128535 6128535 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 12 6128535 6128535 G A SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.4049 p.A1350V 0.767 pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 - - 90 0 0.00 69 15 17.86 WBP1L 0 genome.wustl.edu 37 10 104569775 104569775 + Nonsense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 10 104569775 104569775 G T SNP WBP1L ENST00000448841 human ensembl 74_37 +1 known nonsense c.319 p.E107* 1.000 pfam_Uncharacterised_WW-bd pfam_Uncharacterised_WW-bd - no_errors WBP1L HGNC ENSG00000166272 tier1 - - 68 0 0.00 59 4 6.35 WDR13 0 genome.wustl.edu 37 X 48459019 48459019 + RNA SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db X 48459019 48459019 G T SNP WDR13 ENST00000482760 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WDR13 HGNC ENSG00000101940 tier1 - - 38 0 0.00 32 4 11.11 ZAN 0 genome.wustl.edu 37 7 100377076 100377076 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 7 100377076 100377076 G T SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.6323 p.S2108I 0.000 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 tier1 - - 58 0 0.00 63 4 5.97 ZFP3 0 genome.wustl.edu 37 17 4995060 4995060 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 17 4995060 4995060 G T SNP ZFP3 ENST00000318833 human ensembl 74_37 +1 known missense c.261 p.E87D 0.013 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP3 HGNC ENSG00000180787 34 0 0.00 29 2 6.45 ZFPM1 0 genome.wustl.edu 37 16 88594569 88594569 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 16 88594569 88594569 C T SNP ZFPM1 ENST00000319555 human ensembl 74_37 +1 known missense c.635 p.P212L 0.112 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM1 HGNC ENSG00000179588 84 0 0.00 72 4 5.26 ZFYVE27 0 genome.wustl.edu 37 10 99509277 99509277 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 10 99509277 99509277 C T SNP ZFYVE27 ENST00000356257 human ensembl 74_37 +1 known missense c.598 p.P200S 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE27 HGNC ENSG00000155256 49 0 0.00 23 3 11.54 ZNF106 0 genome.wustl.edu 37 15 42730815 42730815 + Missense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 15 42730815 42730815 G T SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.4526 p.S1509Y 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 33 0 0.00 37 2 5.13 ZNF205 0 genome.wustl.edu 37 16 3168964 3168964 + Silent SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 16 3168964 3168964 G A SNP ZNF205 ENST00000219091 human ensembl 74_37 +1 known silent c.543 p.S181 0.000 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF205 HGNC ENSG00000122386 tier1 - - 69 0 0.00 43 9 17.31 ZNF292 0 genome.wustl.edu 37 6 87964759 87964759 + Missense_Mutation SNP A A G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 6 87964759 87964759 A G SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.1412 p.D471G 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 tier1 - - 28 0 0.00 24 10 29.41 ZNF470 0 genome.wustl.edu 37 19 57089485 57089485 + Missense_Mutation SNP A A T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 57089485 57089485 A T SNP ZNF470 ENST00000330619 human ensembl 74_37 +1 known missense c.1688 p.K563M 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 ZNF470 HGNC ENSG00000197016 tier1 - - 73 0 0.00 66 14 17.50 ZNF493 0 genome.wustl.edu 37 19 21606279 21606279 + Missense_Mutation SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 21606279 21606279 C A SNP ZNF493 ENST00000355504 human ensembl 74_37 +1 known missense c.434 p.S145Y 0.028 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 35 0 0.00 55 3 5.17 ZNF568 0 genome.wustl.edu 37 19 37441138 37441138 + Silent SNP T T G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 37441138 37441138 T G SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known silent c.1083 p.P361 0.003 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 ZNF568 HGNC ENSG00000198453 tier1 - - 69 0 0.00 68 16 19.05 ZNF626 0 genome.wustl.edu 37 19 20808302 20808302 + Missense_Mutation SNP T T G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 20808302 20808302 T G SNP ZNF626 ENST00000601440 human ensembl 74_37 -1 known missense c.381 p.K127N 0.001 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 ZNF626 HGNC ENSG00000188171 tier1 - - 145 0 0.00 102 17 14.29 ZNF804B 0 genome.wustl.edu 37 7 88964744 88964744 + Missense_Mutation SNP A A C TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 7 88964744 88964744 A C SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.2448 p.Q816H 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 30 0 0.00 13 9 40.91 ZSCAN18 0 genome.wustl.edu 37 19 58601387 58601387 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47f5b536-9d6f-4d88-a50c-c21574548e75 da2df177-c57c-4de1-882c-07f7a1b1c4db 19 58601387 58601387 C T SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known missense c.416 p.R139H 0.245 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 tier1 - - 90 0 0.00 59 17 22.37