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 ABCB1 0 genome.wustl.edu 37 7 87183163 87183163 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 87183163 87183163 G T SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.913 p.L305M 0.928 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 17 0 0.00 30 3 9.09 ABCC8 0 genome.wustl.edu 37 11 17483265 17483265 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 17483265 17483265 G T SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known silent c.687 p.T229 0.984 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 tier1 - - 113 0 0.00 59 4 6.35 ABCC9 0 genome.wustl.edu 37 12 21998616 21998616 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 21998616 21998616 G T SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known nonsense c.3017 p.S1006* 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 11 0 0.00 29 2 6.45 ABI3BP 0 genome.wustl.edu 37 3 100529318 100529318 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 100529318 100529318 G T SNP ABI3BP ENST00000383691 human ensembl 74_37 -1 known missense c.1397 p.T466K 0.019 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 tier1 - - 28 0 0.00 50 4 7.41 ACOX2 0 genome.wustl.edu 37 3 58503001 58503001 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 58503001 58503001 G T SNP ACOX2 ENST00000302819 human ensembl 74_37 -1 known missense c.1782 p.D594E 0.994 pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ENSG00000168306 tier1 - - 48 0 0.00 55 4 6.78 ADAM15 0 genome.wustl.edu 37 1 155030841 155030841 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 155030841 155030841 G T SNP ADAM15 ENST00000356955 human ensembl 74_37 +1 known missense c.1841 p.W614L 1.000 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ENSG00000143537 tier1 - - 43 0 0.00 27 4 12.90 ADAM15 0 genome.wustl.edu 37 1 155034985 155034985 + RNA SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 155034985 155034985 C A SNP ADAM15 ENST00000461234 human ensembl 74_37 +1 known rna NULL NULL 0.331 - - - no_errors ADAM15 HGNC ENSG00000143537 tier1 - - 30 0 0.00 29 4 12.12 ADAM6 0 genome.wustl.edu 37 14 106436671 106436671 + RNA SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 14 106436671 106436671 G T SNP ADAM6 ENST00000452053 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ADAM6 HGNC ENSG00000233988 tier1 - - 26 0 0.00 19 7 26.92 ADCK5 0 genome.wustl.edu 37 8 145616376 145616376 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 145616376 145616376 G T SNP ADCK5 ENST00000308860 human ensembl 74_37 +1 known nonsense c.586 p.E196* 0.099 pfam_UbiB_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ENSG00000173137 tier1 - - 53 0 0.00 52 7 11.86 ADORA2A-AS1 0 genome.wustl.edu 37 22 24827000 24827000 + RNA SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 22 24827000 24827000 G T SNP ADORA2A-AS1 ENST00000326341 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ADORA2A-AS1 HGNC ENSG00000178803 tier1 - - 61 0 0.00 16 3 15.79 AGAP1 0 genome.wustl.edu 37 2 236706515 236706515 + Silent SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 236706515 236706515 C T SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known silent c.786 p.A262 0.002 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 tier1 rs137978600 - 86 0 0.00 44 31 40.26 AKR7L 0 genome.wustl.edu 37 1 19597012 19597012 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 19597012 19597012 G T SNP AKR7L ENST00000420396 human ensembl 74_37 -1 known missense c.103 p.P35T 0.977 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7L HGNC ENSG00000211454 180 0 0.00 52 3 5.45 ALDH7A1 0 genome.wustl.edu 37 5 125885971 125885971 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 5 125885971 125885971 G T SNP ALDH7A1 ENST00000409134 human ensembl 74_37 -1 known silent c.1332 p.V444 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH7A1 HGNC ENSG00000164904 18 0 0.00 52 4 7.14 ANGPT1 0 genome.wustl.edu 37 8 108264090 108264090 + Missense_Mutation SNP T T A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 108264090 108264090 T A SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known missense c.1490 p.D497V 1.000 superfamily_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 tier1 - - 19 0 0.00 82 20 19.61 ANKLE2 0 genome.wustl.edu 37 12 133306803 133306803 + Nonsense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 133306803 133306803 C A SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known nonsense c.1945 p.E649* 1.000 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 tier1 - - 61 0 0.00 36 4 10.00 ANKUB1 0 genome.wustl.edu 37 3 149563810 149563810 + RNA SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 149563810 149563810 C T SNP ANKUB1 ENST00000481585 human ensembl 74_37 -1 known rna NULL NULL 0.028 - - - no_errors ANKUB1 HGNC ENSG00000206199 tier1 - - 9 0 0.00 25 10 28.57 ANO1 0 genome.wustl.edu 37 11 70031758 70031758 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 70031758 70031758 G T SNP ANO1 ENST00000355303 human ensembl 74_37 +1 known missense c.2651 p.W884L 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 133 0 0.00 75 4 5.06 ARHGAP23 0 genome.wustl.edu 37 17 36633839 36633839 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 17 36633839 36633839 G A SNP ARHGAP23 ENST00000431231 human ensembl 74_37 +1 known missense c.2138 p.R713H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP23 HGNC ENSG00000225485 tier1 - - 208 0 0.00 68 35 33.98 ARHGEF7 0 genome.wustl.edu 37 13 111927998 111927998 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 13 111927998 111927998 G T SNP ARHGEF7 ENST00000375741 human ensembl 74_37 +1 known missense c.1455 p.Q485H 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 33 0 0.00 34 2 5.56 ARMC2 0 genome.wustl.edu 37 6 109175567 109175567 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 109175567 109175567 G T SNP ARMC2 ENST00000392644 human ensembl 74_37 +1 known missense c.97 p.A33S 1.000 NULL superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ENSG00000118690 13 0 0.00 34 2 5.56 ARVCF 0 genome.wustl.edu 37 22 19966574 19966574 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 22 19966574 19966574 G T SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.1426 p.P476T 1.000 superfamily_ARM-type_fold,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 tier1 - - 54 0 0.00 14 3 17.65 ATF7 0 genome.wustl.edu 37 12 53918509 53918509 + Nonsense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 53918509 53918509 G A SNP ATF7 ENST00000328463 human ensembl 74_37 -1 known nonsense c.997 p.R333* 0.904 pirsf_TF_cAMP-dep pfam_bZIP,smart_Znf_C2H2-like,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors ATF7 HGNC ENSG00000170653 tier1 - - 85 0 0.00 17 32 64.00 ATF7IP 0 genome.wustl.edu 37 12 14518656 14518656 + RNA SNP G G C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 14518656 14518656 G C SNP ATF7IP ENST00000539659 human ensembl 74_37 +1 known rna NULL NULL 0.936 - - - no_errors ATF7IP HGNC ENSG00000171681 tier1 - - 95 0 0.00 31 9 22.50 ATL3 0 genome.wustl.edu 37 11 63426674 63426674 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 63426674 63426674 G T SNP ATL3 ENST00000398868 human ensembl 74_37 -1 known missense c.97 p.Q33K 0.959 superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_P-loop_NTPase,superfamily_Guanylate-bd_C - no_errors ATL3 HGNC ENSG00000184743 20 0 0.00 42 4 8.70 BAI3 0 genome.wustl.edu 37 6 70098745 70098745 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 70098745 70098745 C A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.4531 p.L1511M 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 12 0 0.00 26 2 7.14 BAZ2A 0 genome.wustl.edu 37 12 56998952 56998952 + Missense_Mutation SNP G G C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 56998952 56998952 G C SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known missense c.2659 p.L887V 0.805 pfam_DDT_dom,smart_DDT_dom_subgr,pfscan_DDT_dom_superfamily pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 tier1 - - 87 0 0.00 40 10 19.61 BBS12 0 genome.wustl.edu 37 4 123664834 123664834 + Missense_Mutation SNP A A G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 4 123664834 123664834 A G SNP BBS12 ENST00000314218 human ensembl 74_37 +1 known missense c.1787 p.Q596R 0.038 superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS12 HGNC ENSG00000181004 11 0 0.00 29 11 27.50 BEST2 0 genome.wustl.edu 37 19 12866567 12866567 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 19 12866567 12866567 G T SNP BEST2 ENST00000042931 human ensembl 74_37 +1 known missense c.853 p.A285S 0.993 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST2 HGNC ENSG00000039987 54 0 0.00 36 3 7.69 BHLHE40 0 genome.wustl.edu 37 3 5024704 5024704 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 5024704 5024704 G T SNP BHLHE40 ENST00000256495 human ensembl 74_37 +1 known missense c.566 p.R189M 0.974 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors BHLHE40 HGNC ENSG00000134107 tier1 - - 104 0 0.00 56 4 6.67 BIK 0 genome.wustl.edu 37 22 43525245 43525247 + In_Frame_Del DEL GCT GCT - TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 22 43525245 43525247 GCT - DEL BIK ENST00000216115 human ensembl 74_37 +1 known in_frame_del c.417_419 p.L143in_frame_del 0.001:0.000:0.000 pfam_Bcl2-int_killer pfam_Bcl2-int_killer - no_errors BIK HGNC ENSG00000100290 tier1 49 0 0.00 9 3 25.00 BIRC6 0 genome.wustl.edu 37 2 32693541 32693541 + Silent SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 32693541 32693541 G A SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known silent c.5817 p.L1939 1.000 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 21 0 0.00 45 4 8.00 BRINP3 0 genome.wustl.edu 37 1 190068031 190068031 + Missense_Mutation SNP A A T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 190068031 190068031 A T SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.1418 p.L473H 0.147 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 tier1 - - 40 0 0.00 11 7 38.89 BRPF1 0 genome.wustl.edu 37 3 9781555 9781555 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 9781555 9781555 G T SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known missense c.1472 p.R491L 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 81 0 0.00 33 2 5.71 BRWD1 0 genome.wustl.edu 37 21 40587221 40587221 + Nonsense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 21 40587221 40587221 C A SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known nonsense c.3727 p.E1243* 0.260 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 25 0 0.00 18 2 10.00 BSX 0 genome.wustl.edu 37 11 122850018 122850018 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 122850018 122850018 G A SNP BSX ENST00000343035 human ensembl 74_37 -1 known missense c.410 p.T137M 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BSX HGNC ENSG00000188909 tier1 - - 74 0 0.00 50 4 7.41 BTBD9 0 genome.wustl.edu 37 6 38560574 38560574 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 38560574 38560574 G T SNP BTBD9 ENST00000403056 human ensembl 74_37 -1 known missense c.592 p.P198T 1.000 pfam_BACK,smart_BACK pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC ENSG00000183826 20 0 0.00 76 4 5.00 C10orf53 0 genome.wustl.edu 37 10 50916525 50916525 + Silent SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 50916525 50916525 C A SNP C10orf53 ENST00000374112 human ensembl 74_37 +1 known silent c.336 p.T112 0.000 NULL NULL - no_errors C10orf53 HGNC ENSG00000178645 43 0 0.00 83 5 5.68 C1QBP 0 genome.wustl.edu 37 17 5336678 5336678 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 17 5336678 5336678 G T SNP C1QBP ENST00000225698 human ensembl 74_37 -1 known missense c.634 p.Q212K 1.000 pfam_MAM33,superfamily_MAM33 pfam_MAM33,superfamily_MAM33 - no_errors C1QBP HGNC ENSG00000108561 20 0 0.00 38 3 7.32 C1QTNF1 0 genome.wustl.edu 37 17 77043771 77043771 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 17 77043771 77043771 G T SNP C1QTNF1 ENST00000354124 human ensembl 74_37 +1 known silent c.477 p.S159 0.218 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF1 HGNC ENSG00000173918 86 0 0.00 62 4 6.06 C6orf226 0 genome.wustl.edu 37 6 42858442 42858442 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 42858442 42858442 G T SNP C6orf226 ENST00000408925 human ensembl 74_37 -1 novel missense c.85 p.Q29K 0.984 NULL NULL - no_errors C6orf226 HGNC ENSG00000221821 tier1 - - 49 0 0.00 32 4 11.11 C8A 0 genome.wustl.edu 37 1 57340647 57340647 + Missense_Mutation SNP C C G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 57340647 57340647 C G SNP C8A ENST00000361249 human ensembl 74_37 +1 known missense c.197 p.P66R 0.999 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8A HGNC ENSG00000157131 tier1 - - 23 0 0.00 45 18 28.57 C8B 0 genome.wustl.edu 37 1 57399057 57399057 + Missense_Mutation SNP A A C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 57399057 57399057 A C SNP C8B ENST00000371237 human ensembl 74_37 -1 known missense c.1503 p.S501R 0.917 prints_MAC_perforin pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8B HGNC ENSG00000021852 tier1 - - 51 0 0.00 34 24 41.38 C8orf48 0 genome.wustl.edu 37 8 13424530 13424530 + Silent SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 13424530 13424530 G A SNP C8orf48 ENST00000297324 human ensembl 74_37 +1 known silent c.30 p.T10 0.000 NULL NULL - no_errors C8orf48 HGNC ENSG00000164743 tier1 - - 66 0 0.00 265 14 5.02 C9orf84 0 genome.wustl.edu 37 9 114454392 114454392 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 9 114454392 114454392 C A SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known missense c.3673 p.D1225Y 0.380 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 13 0 0.00 62 4 6.06 CACNA1E 0 genome.wustl.edu 37 1 181549830 181549830 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 181549830 181549830 C A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.869 p.T290N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 52 0 0.00 63 4 5.97 CAMTA2 0 genome.wustl.edu 37 17 4872451 4872451 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 17 4872451 4872451 C T SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known missense c.3533 p.R1178H 0.988 superfamily_P-loop_NTPase pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 tier1 - - 116 0 0.00 26 10 27.78 CAPN15 0 genome.wustl.edu 37 16 601640 601640 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 16 601640 601640 G T SNP CAPN15 ENST00000219611 human ensembl 74_37 +1 known missense c.2321 p.W774L 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN15 HGNC ENSG00000103326 tier1 - - 51 0 0.00 11 3 21.43 CASP8 0 genome.wustl.edu 37 2 202141669 202141669 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 202141669 202141669 G T SNP CASP8 ENST00000358485 human ensembl 74_37 +1 known missense c.957 p.R319S 0.543 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20 pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 tier1 - - 32 0 0.00 66 5 7.04 CASP9 0 genome.wustl.edu 37 1 15833452 15833452 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 15833452 15833452 C T SNP CASP9 ENST00000333868 human ensembl 74_37 -1 known missense c.572 p.R191Q 0.717 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP9 HGNC ENSG00000132906 tier1 - - 280 0 0.00 62 30 32.61 CATSPERD 0 genome.wustl.edu 37 19 5757895 5757895 + Silent SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 19 5757895 5757895 C A SNP CATSPERD ENST00000381624 human ensembl 74_37 +1 known silent c.1320 p.T440 0.000 NULL superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 tier1 - - 139 0 0.00 44 4 8.33 CCDC13 0 genome.wustl.edu 37 3 42787490 42787490 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 42787490 42787490 G T SNP CCDC13 ENST00000310232 human ensembl 74_37 -1 known silent c.750 p.I250 0.958 NULL superfamily_Prefoldin - no_errors CCDC13 HGNC ENSG00000244607 27 0 0.00 42 4 8.70 CCDC171 0 genome.wustl.edu 37 9 15874582 15874582 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 9 15874582 15874582 C T SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.3521 p.T1174I 1.000 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 tier1 - - 41 0 0.00 51 12 19.05 CCDC40 0 genome.wustl.edu 37 17 78013765 78013765 + Frame_Shift_Del DEL C C - TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 17 78013765 78013765 C - DEL CCDC40 ENST00000397545 human ensembl 74_37 +1 known frame_shift_del c.248 p.A83fs 0.000 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 tier1 26 0 0.00 18 37 67.27 CCDC80 0 genome.wustl.edu 37 3 112357842 112357842 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 112357842 112357842 G A SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known missense c.911 p.P304L 0.000 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 tier1 - - 71 0 0.00 31 12 27.91 CCNC 0 genome.wustl.edu 37 6 99993014 99993014 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 99993014 99993014 C T SNP CCNC ENST00000520429 human ensembl 74_37 -1 known missense c.771 p.M257I 1.000 superfamily_Cyclin-like,pirsf_CyclinC pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC - no_errors CCNC HGNC ENSG00000112237 15 0 0.00 53 4 7.02 CD99L2 0 genome.wustl.edu 37 X 149997814 149997814 + Missense_Mutation SNP T T A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e X 149997814 149997814 T A SNP CD99L2 ENST00000320893 human ensembl 74_37 -1 known missense c.394 p.M132L 0.002 NULL NULL - no_errors CD99L2 HGNC ENSG00000102181 tier1 - - 8 0 0.00 3 18 85.71 CDH12 0 genome.wustl.edu 37 5 21755816 21755816 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 5 21755816 21755816 C A SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.1769 p.C590F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 21 0 0.00 33 2 5.71 CDK1 0 genome.wustl.edu 37 10 62552031 62552031 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 62552031 62552031 G T SNP CDK1 ENST00000395284 human ensembl 74_37 +1 known missense c.779 p.G260V 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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 CDK1 HGNC ENSG00000170312 20 0 0.00 68 4 5.56 CDK11B 0 genome.wustl.edu 37 1 1588836 1588836 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 1588836 1588836 G A SNP CDK11B ENST00000407249 human ensembl 74_37 -1 known missense c.100 p.R34C 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK11B HGNC ENSG00000248333 tier1 - - 70 0 0.00 91 53 36.81 CDON 0 genome.wustl.edu 37 11 125831850 125831850 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 125831850 125831850 G T SNP CDON ENST00000392693 human ensembl 74_37 -1 known missense c.3400 p.P1134T 0.980 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 CDON HGNC ENSG00000064309 40 0 0.00 34 4 10.53 CELF6 0 genome.wustl.edu 37 15 72580943 72580943 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 15 72580943 72580943 G T SNP CELF6 ENST00000569547 human ensembl 74_37 -1 known silent c.1110 p.A370 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF6 Uniprot_gn ENSG00000273025 tier1 - - 59 0 0.00 23 4 14.81 CEP135 0 genome.wustl.edu 37 4 56885519 56885519 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 4 56885519 56885519 G T SNP CEP135 ENST00000257287 human ensembl 74_37 +1 known missense c.3013 p.V1005F 0.972 NULL superfamily_Prefoldin,superfamily_EB1_C - no_errors CEP135 HGNC ENSG00000174799 22 0 0.00 83 5 5.68 CFTR 0 genome.wustl.edu 37 7 117199647 117199647 + Missense_Mutation SNP T T A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 117199647 117199647 T A SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.1522 p.F508I 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 8 0 0.00 23 3 10.71 CGNL1 0 genome.wustl.edu 37 15 57753971 57753971 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 15 57753971 57753971 G T SNP CGNL1 ENST00000281282 human ensembl 74_37 +1 known missense c.2284 p.A762S 1.000 NULL pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 31 0 0.00 30 4 11.76 CHL1 0 genome.wustl.edu 37 3 439936 439936 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 439936 439936 G T SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.3121 p.V1041L 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 26 0 0.00 72 4 5.26 CHMP7 0 genome.wustl.edu 37 8 23104385 23104385 + Silent SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 23104385 23104385 G A SNP CHMP7 ENST00000313219 human ensembl 74_37 +1 known silent c.177 p.L59 1.000 NULL pfam_Snf7 - no_errors CHMP7 HGNC ENSG00000147457 106 0 0.00 55 3 5.17 CHRNA4 0 genome.wustl.edu 37 20 61992443 61992443 + Silent SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 20 61992443 61992443 G A SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known silent c.75 p.R25 0.030 NULL pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 tier1 - - 21 0 0.00 1 16 94.12 CIDEB 0 genome.wustl.edu 37 14 24777026 24777026 + Silent SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 14 24777026 24777026 G A SNP CIDEB ENST00000258807 human ensembl 74_37 -1 known silent c.39 p.L13 0.999 NULL pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors CIDEB HGNC ENSG00000136305 tier1 - - 57 0 0.00 24 22 47.83 CLCN1 0 genome.wustl.edu 37 7 143027864 143027864 + Splice_Site SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 143027864 143027864 G T SNP CLCN1 ENST00000343257 human ensembl 74_37 +1 known splice_site c.854-1 e8-1 1.000 - - - no_errors CLCN1 HGNC ENSG00000188037 36 0 0.00 37 2 5.13 CMSS1 0 genome.wustl.edu 37 3 99886581 99886581 + Splice_Site SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 99886581 99886581 G T SNP CMSS1 ENST00000421999 human ensembl 74_37 +1 known splice_site c.416-1 e6-1 1.000 - - - no_errors CMSS1 HGNC ENSG00000184220 19 0 0.00 30 3 9.09 COL2A1 0 genome.wustl.edu 37 12 48391419 48391419 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 48391419 48391419 G T SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known silent c.501 p.P167 0.808 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 tier1 - - 111 0 0.00 30 42 58.33 COPZ1 0 genome.wustl.edu 37 12 54741805 54741805 + Silent SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 54741805 54741805 C A SNP COPZ1 ENST00000262061 human ensembl 74_37 +1 known silent c.417 p.P139 0.984 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom pfam_AP_mu_sigma_su,superfamily_Longin-like_dom - no_errors COPZ1 HGNC ENSG00000111481 47 0 0.00 31 3 8.82 CORO7-PAM16 0 genome.wustl.edu 37 16 4409313 4409313 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 16 4409313 4409313 G T SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known nonsense c.2324 p.S775* 0.986 pfam_DUF1900 pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 tier1 - - 90 0 0.00 45 4 8.16 CPN1 0 genome.wustl.edu 37 10 101808606 101808606 + Missense_Mutation SNP A A G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 101808606 101808606 A G SNP CPN1 ENST00000370418 human ensembl 74_37 -1 known missense c.1139 p.L380P 1.000 superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC ENSG00000120054 48 0 0.00 53 4 7.02 CPZ 0 genome.wustl.edu 37 4 8620212 8620212 + Silent SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 4 8620212 8620212 C T SNP CPZ ENST00000360986 human ensembl 74_37 +1 known silent c.1560 p.N520 0.869 superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom - no_errors CPZ HGNC ENSG00000109625 tier1 rs111747511 - 107 0 0.00 81 43 34.68 CRHR1 0 genome.wustl.edu 37 17 43898768 43898768 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 17 43898768 43898768 G A SNP CRHR1 ENST00000398285 human ensembl 74_37 +1 known missense c.289 p.V97M 0.999 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_diuretic_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC ENSG00000120088 tier1 - - 250 0 0.00 105 28 21.05 CSMD3 0 genome.wustl.edu 37 8 113347567 113347567 + Missense_Mutation SNP T T G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 113347567 113347567 T G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.7156 p.S2386R 1.000 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 23 0 0.00 120 8 6.25 CSTL1 0 genome.wustl.edu 37 20 23420862 23420862 + RNA SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 20 23420862 23420862 C A SNP CSTL1 ENST00000472140 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CSTL1 HGNC ENSG00000125823 tier1 - - 36 0 0.00 44 4 8.33 CTAGE1 0 genome.wustl.edu 37 18 19996488 19996488 + Silent SNP T T C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 18 19996488 19996488 T C SNP CTAGE1 ENST00000391403 human ensembl 74_37 -1 known silent c.1287 p.A429 0.785 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 tier1 - - 42 0 0.00 83 22 20.95 CTNNA3 0 genome.wustl.edu 37 10 69281668 69281668 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 69281668 69281668 G T SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known missense c.511 p.Q171K 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 17 0 0.00 51 4 7.27 CTU2 0 genome.wustl.edu 37 16 88779039 88779039 + Silent SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 16 88779039 88779039 C T SNP CTU2 ENST00000567949 human ensembl 74_37 +1 known silent c.676 p.L226 0.574 NULL pfam_Thiouridylase_cyt_su2 - no_errors CTU2 HGNC ENSG00000174177 tier1 - - 162 0 0.00 50 17 25.37 CUL1 0 genome.wustl.edu 37 7 148487454 148487454 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 148487454 148487454 G T SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known missense c.1727 p.G576V 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 25 0 0.00 60 4 6.25 DAAM1 0 genome.wustl.edu 37 14 59819347 59819347 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 14 59819347 59819347 G T SNP DAAM1 ENST00000351081 human ensembl 74_37 +1 known missense c.2294 p.S765I 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DAAM1 HGNC ENSG00000100592 35 0 0.00 68 4 5.56 DAGLA 0 genome.wustl.edu 37 11 61511391 61511391 + Silent SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 61511391 61511391 G A SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known silent c.2559 p.T853 0.963 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 20 0 0.00 8 3 27.27 DBNDD2 0 genome.wustl.edu 37 20 44036812 44036812 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 20 44036812 44036812 G T SNP DBNDD2 ENST00000372710 human ensembl 74_37 +1 putative missense c.11 p.W4L 0.001 NULL pfam_Dysbindin - no_errors DBNDD2 HGNC ENSG00000244274 tier1 - - 64 0 0.00 61 4 6.15 DCSTAMP 0 genome.wustl.edu 37 8 105367335 105367335 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 105367335 105367335 G T SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known silent c.1260 p.L420 0.155 pfam_DC_STAMP-like,superfamily_ABC1_TM_dom pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 18 0 0.00 39 4 9.30 DDX10 0 genome.wustl.edu 37 11 108788750 108788750 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 108788750 108788750 G A SNP DDX10 ENST00000526794 human ensembl 74_37 +1 putative missense c.2455 p.V819I 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX10 HGNC ENSG00000178105 tier1 - - 13 0 0.00 12 14 53.85 DECR2 0 genome.wustl.edu 37 16 455532 455532 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 16 455532 455532 G T SNP DECR2 ENST00000397710 human ensembl 74_37 +1 known nonsense c.169 p.G57* 0.000 NULL pfam_DH_sc/Rdtase_SDR - no_errors DECR2 HGNC ENSG00000242612 tier1 - - 107 0 0.00 31 27 46.55 DEPDC5 0 genome.wustl.edu 37 22 32241198 32241198 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 22 32241198 32241198 G T SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.2996 p.R999L 1.000 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 67 0 0.00 21 2 8.70 DMD 0 genome.wustl.edu 37 X 32486681 32486681 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e X 32486681 32486681 G T SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.3096 p.L1032 0.001 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 10 0 0.00 2 8 80.00 DMXL1 0 genome.wustl.edu 37 5 118469070 118469070 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 5 118469070 118469070 G A SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known missense c.1559 p.R520H 1.000 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 11 0 0.00 20 2 9.09 DMXL2 0 genome.wustl.edu 37 15 51791379 51791379 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 15 51791379 51791379 G A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.4042 p.H1348Y 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 tier1 - - 23 0 0.00 52 19 26.76 DNAH10 0 genome.wustl.edu 37 12 124398985 124398985 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 124398985 124398985 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.10108 p.R3370C 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 65 0 0.00 24 20 45.45 DNAH7 0 genome.wustl.edu 37 2 196673506 196673506 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 196673506 196673506 C A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.9983 p.W3328L 1.000 pfam_Dynein_heavy_dom 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 15 0 0.00 46 4 8.00 DNAH7 0 genome.wustl.edu 37 2 196718134 196718134 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 196718134 196718134 G T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.8714 p.T2905N 1.000 NULL 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 19 0 0.00 41 4 8.89 DNHD1 0 genome.wustl.edu 37 11 6588542 6588542 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 6588542 6588542 G T SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.11803 p.G3935C 1.000 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 tier1 - - 74 0 0.00 30 4 11.76 DNM1 0 genome.wustl.edu 37 9 131016958 131016958 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 9 131016958 131016958 C T SNP DNM1 ENST00000372923 human ensembl 74_37 +1 known missense c.2560 p.R854C 1.000 NULL pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM1 HGNC ENSG00000106976 tier1 - - 71 0 0.00 38 11 22.45 DNTT 0 genome.wustl.edu 37 10 98092319 98092319 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 98092319 98092319 G A SNP DNTT ENST00000371174 human ensembl 74_37 +1 known missense c.1325 p.R442H 0.000 smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors DNTT HGNC ENSG00000107447 tier1 - - 63 0 0.00 27 8 22.86 DOPEY1 0 genome.wustl.edu 37 6 83828667 83828667 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 83828667 83828667 G T SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.841 p.D281Y 1.000 pfam_Dopey_N,superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 14 0 0.00 36 4 10.00 DOPEY2 0 genome.wustl.edu 37 21 37602976 37602976 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 21 37602976 37602976 G T SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known nonsense c.1894 p.E632* 1.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 78 0 0.00 28 2 6.67 DPH3 0 genome.wustl.edu 37 3 16302333 16302333 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 16302333 16302333 G T SNP DPH3 ENST00000488423 human ensembl 74_37 -1 known missense c.187 p.Q63K 1.000 NULL pfam_Znf_DHP,pfscan_Znf_DHP - no_errors DPH3 HGNC ENSG00000154813 10 0 0.00 52 4 7.14 DPPA5 0 genome.wustl.edu 37 6 74063690 74063690 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 74063690 74063690 G T SNP DPPA5 ENST00000370370 human ensembl 74_37 -1 known missense c.178 p.L60M 0.996 NULL NULL - no_errors DPPA5 HGNC ENSG00000203909 151 0 0.00 55 3 5.17 DPYSL5 0 genome.wustl.edu 37 2 27150120 27150120 + Splice_Site SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 27150120 27150120 G T SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known splice_site c.421-1 e3-1 1.000 - - - no_errors DPYSL5 HGNC ENSG00000157851 63 0 0.00 35 3 7.89 DRD2 0 genome.wustl.edu 37 11 113286268 113286268 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 113286268 113286268 C T SNP DRD2 ENST00000355319 human ensembl 74_37 -1 known missense c.598 p.V200M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD2 HGNC ENSG00000149295 tier1 rs138509142 - 158 0 0.00 53 21 28.38 DSG2 0 genome.wustl.edu 37 18 29126318 29126318 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 18 29126318 29126318 G T SNP DSG2 ENST00000261590 human ensembl 74_37 +1 known missense c.2969 p.R990I 0.995 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG2 HGNC ENSG00000046604 20 0 0.00 39 3 7.14 DST 0 genome.wustl.edu 37 6 56499326 56499326 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 56499326 56499326 G T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.3329 p.A1110D 1.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 17 0 0.00 74 4 5.13 DYNC2H1 0 genome.wustl.edu 37 11 103036711 103036711 + Missense_Mutation SNP C C G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 103036711 103036711 C G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.4696 p.Q1566E 0.999 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 13 0 0.00 35 54 60.67 DYSF 0 genome.wustl.edu 37 2 71887693 71887693 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 71887693 71887693 G A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.4891 p.D1631N 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 38 0 0.00 37 2 5.13 EHD2 0 genome.wustl.edu 37 19 48244617 48244617 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 19 48244617 48244617 C A SNP EHD2 ENST00000263277 human ensembl 74_37 +1 known missense c.1560 p.H520Q 0.999 smart_EPS15_homology,pfscan_EPS15_homology pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 50 0 0.00 28 3 9.68 EIF3J-AS1 0 genome.wustl.edu 37 15 44829028 44829028 + RNA SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 15 44829028 44829028 G T SNP EIF3J-AS1 ENST00000313807 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EIF3J-AS1 HGNC ENSG00000179523 tier1 - - 105 0 0.00 53 4 7.02 ELN 0 genome.wustl.edu 37 7 73462495 73462495 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 73462495 73462495 G T SNP ELN ENST00000358929 human ensembl 74_37 +1 known missense c.709 p.G237C 0.778 prints_Tropoelastin prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 tier1 - - 140 0 0.00 54 4 6.90 ENSG00000221096 0 genome.wustl.edu 37 15 59443238 59443238 + RNA SNP A A G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 15 59443238 59443238 A G SNP ENSG00000221096 ENST00000408169 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AC092757.1 Clone_based_ensembl_gene ENSG00000221096 tier1 - - 23 0 0.00 24 6 20.00 ENSG00000227304 0 genome.wustl.edu 37 4 83417127 83417127 + RNA SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 4 83417127 83417127 G T SNP ENSG00000227304 ENST00000488045 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-791G16.2 Clone_based_vega_gene ENSG00000227304 tier1 - - 19 0 0.00 27 16 37.21 ENSG00000231909 0 genome.wustl.edu 37 9 19461212 19461212 + RNA SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 9 19461212 19461212 C A SNP ENSG00000231909 ENST00000438342 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors RP11-363E7.3 Clone_based_vega_gene ENSG00000231909 tier1 - - 37 0 0.00 41 4 8.89 ENSG00000232936 0 genome.wustl.edu 37 10 91405100 91405100 + RNA SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 91405100 91405100 G T SNP ENSG00000232936 ENST00000454174 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-80H5.2 Clone_based_vega_gene ENSG00000232936 tier1 - - 25 0 0.00 17 3 15.00 ENSG00000236772 0 genome.wustl.edu 37 20 31041311 31041311 + RNA SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 20 31041311 31041311 G A SNP ENSG00000236772 ENST00000442179 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-1184F4.5 Clone_based_vega_gene ENSG00000236772 tier1 - - 61 0 0.00 28 21 42.86 ENSG00000237596 0 genome.wustl.edu 37 6 136513287 136513287 + RNA SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 136513287 136513287 C T SNP ENSG00000237596 ENST00000591521 human ensembl 74_37 -1 known rna NULL NULL 0.022 - - - no_errors RP13-143G15.4 Clone_based_vega_gene ENSG00000237596 tier1 - - 62 0 0.00 40 10 20.00 ENSG00000253397 0 genome.wustl.edu 37 8 27762149 27762149 + RNA SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 27762149 27762149 G T SNP ENSG00000253397 ENST00000517735 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-597M17.1 Clone_based_vega_gene ENSG00000253397 tier1 - - 106 0 0.00 72 4 5.26 ENSG00000253798 0 genome.wustl.edu 37 5 157117205 157117205 + RNA SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 5 157117205 157117205 G A SNP ENSG00000253798 ENST00000522076 human ensembl 74_37 -1 known rna NULL NULL 0.217 - - - no_errors AC008694.3 Clone_based_vega_gene ENSG00000253798 tier1 - - 93 0 0.00 18 14 43.75 ENSG00000257743 0 genome.wustl.edu 37 7 141919721 141919721 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 141919721 141919721 G T SNP ENSG00000257743 ENST00000477922 human ensembl 74_37 +1 putative nonsense c.5410 p.E1804* 0.358 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 tier1 - - 27 0 0.00 61 4 6.15 ENSG00000268948 0 genome.wustl.edu 37 19 58204032 58204033 + Frame_Shift_Ins INS - - A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 19 58204032 58204033 - A INS ENSG00000268948 ENST00000597520 human ensembl 74_37 -1 novel frame_shift_ins c.97_96 p.E32fs 0.038:0.045 NULL NULL - no_errors AC004017.1 Clone_based_ensembl_gene ENSG00000268948 tier1 13 0 0.00 24 4 14.29 EPB41L2 0 genome.wustl.edu 37 6 131220635 131220635 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 131220635 131220635 G T SNP EPB41L2 ENST00000337057 human ensembl 74_37 -1 known missense c.1232 p.A411D 1.000 pirsf_Band_41_protein,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 17 0 0.00 75 4 5.06 EPB41L3 0 genome.wustl.edu 37 18 5445189 5445189 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 18 5445189 5445189 G T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.436 p.L146I 1.000 pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 22 0 0.00 59 4 6.35 EPRS 0 genome.wustl.edu 37 1 220195820 220195820 + Silent SNP T T C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 220195820 220195820 T C SNP EPRS ENST00000366923 human ensembl 74_37 -1 known silent c.984 p.K328 0.992 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-synth_arc/euk pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 26 0 0.00 61 4 6.15 ERC2 0 genome.wustl.edu 37 3 56026193 56026193 + Missense_Mutation SNP C C G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 56026193 56026193 C G SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known missense c.2147 p.R716P 0.998 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 tier1 - - 54 0 0.00 37 26 41.27 ERMP1 0 genome.wustl.edu 37 9 5805118 5805118 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 9 5805118 5805118 G T SNP ERMP1 ENST00000339450 human ensembl 74_37 -1 known missense c.1823 p.P608H 1.000 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 12 0 0.00 38 3 7.32 EXOC1 0 genome.wustl.edu 37 4 56759756 56759756 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 4 56759756 56759756 G T SNP EXOC1 ENST00000346134 human ensembl 74_37 +1 known missense c.1763 p.R588L 1.000 pfam_Exocyst_Exoc1/SEC3 pfam_Exocyst_Exoc1/SEC3 - no_errors EXOC1 HGNC ENSG00000090989 18 0 0.00 64 4 5.88 EXOC3L4 0 genome.wustl.edu 37 14 103573188 103573188 + Silent SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 14 103573188 103573188 C A SNP EXOC3L4 ENST00000380069 human ensembl 74_37 +1 known silent c.1533 p.T511 0.000 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L4 HGNC ENSG00000205436 115 0 0.00 28 4 12.50 EYS 0 genome.wustl.edu 37 6 66005917 66005917 + Missense_Mutation SNP A A C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 66005917 66005917 A C SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.1862 p.L621R 0.000 NULL pfam_Laminin_G,pfam_EG-like_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 EYS HGNC ENSG00000188107 14 0 0.00 23 4 14.81 FAM149B1 0 genome.wustl.edu 37 10 74952433 74952433 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 74952433 74952433 G T SNP FAM149B1 ENST00000242505 human ensembl 74_37 +1 known missense c.402 p.W134C 1.000 pfam_DUF3719 pfam_DUF3719 - no_errors FAM149B1 HGNC ENSG00000138286 16 0 0.00 48 4 7.69 FAM170B 0 genome.wustl.edu 37 10 50339820 50339820 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 50339820 50339820 G T SNP FAM170B ENST00000311787 human ensembl 74_37 -1 known silent c.690 p.G230 1.000 NULL NULL - no_errors FAM170B HGNC ENSG00000172538 78 0 0.00 32 3 8.57 FAM208B 0 genome.wustl.edu 37 10 5766427 5766427 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 5766427 5766427 G T SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known missense c.282 p.E94D 0.985 pfam_DUF3699 pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 tier1 - - 29 0 0.00 129 7 5.15 FAM222A 0 genome.wustl.edu 37 12 110205964 110205964 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 110205964 110205964 G A SNP FAM222A ENST00000358906 human ensembl 74_37 +1 known missense c.230 p.R77H 1.000 NULL NULL - no_errors FAM222A HGNC ENSG00000139438 tier1 - - 93 0 0.00 46 4 8.00 FAM47C 0 genome.wustl.edu 37 X 37027451 37027451 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e X 37027451 37027451 C A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.968 p.S323Y 0.994 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 - - 198 0 0.00 14 50 78.12 FAT3 0 genome.wustl.edu 37 11 92087160 92087160 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 92087160 92087160 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.1882 p.P628S 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 16 0 0.00 19 11 36.67 FBF1 0 genome.wustl.edu 37 17 73910884 73910884 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 17 73910884 73910884 C T SNP FBF1 ENST00000389570 human ensembl 74_37 -1 known missense c.2716 p.E906K 0.965 NULL superfamily_HRDC-like - no_errors FBF1 HGNC ENSG00000188878 tier1 - - 73 0 0.00 13 23 63.89 FBN1 0 genome.wustl.edu 37 15 48936984 48936984 + RNA SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 15 48936984 48936984 G A SNP FBN1 ENST00000558230 human ensembl 74_37 -1 putative rna NULL NULL 0.980 - - - no_errors FBN1 HGNC ENSG00000166147 tier1 - - 37 0 0.00 18 6 25.00 FBXO40 0 genome.wustl.edu 37 3 121340592 121340592 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 121340592 121340592 G T SNP FBXO40 ENST00000338040 human ensembl 74_37 +1 known missense c.316 p.D106Y 0.997 NULL superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO40 HGNC ENSG00000163833 tier1 - - 49 0 0.00 27 4 12.90 FBXO41 0 genome.wustl.edu 37 2 73495955 73495955 + Silent SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 73495955 73495955 G A SNP FBXO41 ENST00000295133 human ensembl 74_37 -1 known silent c.987 p.R329 0.022 NULL superfamily_F-box_dom - no_errors FBXO41 HGNC ENSG00000163013 23 0 0.00 8 2 20.00 FCGRT 0 genome.wustl.edu 37 19 50028826 50028826 + Silent SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 19 50028826 50028826 G A SNP FCGRT ENST00000221466 human ensembl 74_37 +1 known silent c.984 p.L328 0.953 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors FCGRT HGNC ENSG00000104870 86 0 0.00 49 4 7.55 FCN1 0 genome.wustl.edu 37 9 137804889 137804889 + Missense_Mutation SNP G G C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 9 137804889 137804889 G C SNP FCN1 ENST00000371806 human ensembl 74_37 -1 known missense c.441 p.D147E 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN1 HGNC ENSG00000085265 tier1 - - 203 0 0.00 53 75 58.59 FEZ1 0 genome.wustl.edu 37 11 125315934 125315934 + RNA SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 125315934 125315934 G A SNP FEZ1 ENST00000526507 human ensembl 74_37 -1 known rna NULL NULL 0.843 - - - no_errors FEZ1 HGNC ENSG00000149557 tier1 - - 69 0 0.00 26 7 21.21 FFAR3 0 genome.wustl.edu 37 19 35850416 35850416 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 19 35850416 35850416 G T SNP FFAR3 ENST00000327809 human ensembl 74_37 +1 known silent c.624 p.V208 0.682 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph - no_errors FFAR3 HGNC ENSG00000185897 tier1 - - 93 0 0.00 23 3 11.54 FHL1 0 genome.wustl.edu 37 X 135288566 135288566 + Missense_Mutation SNP G G C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e X 135288566 135288566 G C SNP FHL1 ENST00000539015 human ensembl 74_37 +1 known missense c.62 p.G21A 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL1 HGNC ENSG00000022267 tier1 - - 37 0 0.00 0 14 100.00 FHOD1 0 genome.wustl.edu 37 16 67263792 67263792 + Nonsense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 16 67263792 67263792 C A SNP FHOD1 ENST00000258201 human ensembl 74_37 -1 known nonsense c.3316 p.E1106* 1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 tier1 - - 66 0 0.00 39 4 9.30 FICD 0 genome.wustl.edu 37 12 108910800 108910800 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 108910800 108910800 G T SNP FICD ENST00000552695 human ensembl 74_37 +1 known missense c.51 p.W17C 1.000 NULL pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FICD HGNC ENSG00000198855 tier1 - - 58 0 0.00 22 4 15.38 FN1 0 genome.wustl.edu 37 2 216237007 216237007 + Silent SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 216237007 216237007 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.6339 p.F2113 1.000 NULL pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 tier1 - - 36 0 0.00 32 12 27.27 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74954930 74954930 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 74954930 74954930 G T SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known nonsense c.2521 p.E841* 1.000 superfamily_Kinase-like_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 26 0 0.00 44 3 6.38 FRG1B 0 genome.wustl.edu 37 20 29628278 29628278 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 20 29628278 29628278 G A SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known missense c.280 p.A94T 1.000 pfam_FRG1,superfamily_Actin_cross-linking pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 tier1 - - 127 0 0.00 387 30 7.16 FRMD4A 0 genome.wustl.edu 37 10 13699267 13699267 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 13699267 13699267 G T SNP FRMD4A ENST00000357447 human ensembl 74_37 -1 known missense c.2322 p.D774E 1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 tier1 - - 98 0 0.00 64 4 5.88 FRMD7 0 genome.wustl.edu 37 X 131261854 131261854 + Missense_Mutation SNP G G C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e X 131261854 131261854 G C SNP FRMD7 ENST00000298542 human ensembl 74_37 -1 known missense c.19 p.Q7E 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain - no_errors FRMD7 HGNC ENSG00000165694 tier1 - - 10 0 0.00 1 16 94.12 FUK 0 genome.wustl.edu 37 16 70500056 70500056 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 16 70500056 70500056 G T SNP FUK ENST00000378912 human ensembl 74_37 +1 known missense c.403 p.D135Y 1.000 pfam_Fucokinase pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 tier1 - - 98 0 0.00 25 10 28.57 GABRA2 0 genome.wustl.edu 37 4 46334652 46334652 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 4 46334652 46334652 G T SNP GABRA2 ENST00000356504 human ensembl 74_37 -1 known missense c.235 p.P79T 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 18 0 0.00 73 4 5.19 GALNT8 0 genome.wustl.edu 37 12 4830038 4830038 + Silent SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 4830038 4830038 G A SNP GALNT8 ENST00000252318 human ensembl 74_37 +1 known silent c.195 p.V65 0.001 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 tier1 - - 42 0 0.00 21 24 53.33 GALNT9 0 genome.wustl.edu 37 12 132905553 132905553 + Silent SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 132905553 132905553 G A SNP GALNT9 ENST00000328957 human ensembl 74_37 -1 known silent c.237 p.N79 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT9 HGNC ENSG00000182870 tier1 - - 71 0 0.00 21 7 25.00 GALR2 0 genome.wustl.edu 37 17 74071332 74071332 + Frame_Shift_Del DEL G G - TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 17 74071332 74071332 G - DEL GALR2 ENST00000329003 human ensembl 74_37 +1 known frame_shift_del c.368 p.R123fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_GAL2_rcpt - no_errors GALR2 HGNC ENSG00000182687 tier1 30 0 0.00 8 2 20.00 GDA 0 genome.wustl.edu 37 9 74865707 74865707 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 9 74865707 74865707 C A SNP GDA ENST00000238018 human ensembl 74_37 +1 known missense c.1403 p.P468Q 0.000 NULL pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC ENSG00000119125 17 0 0.00 52 4 7.14 GLB1L3 0 genome.wustl.edu 37 11 134183872 134183872 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 134183872 134183872 G T SNP GLB1L3 ENST00000431683 human ensembl 74_37 +1 known silent c.1617 p.L539 0.000 superfamily_Galactose-bd-like pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC ENSG00000166105 22 0 0.00 61 4 6.15 GLI3 0 genome.wustl.edu 37 7 42006106 42006106 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 42006106 42006106 G T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.2565 p.S855R 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 tier1 - - 64 0 0.00 23 7 23.33 GMEB2 0 genome.wustl.edu 37 20 62221507 62221508 + Frame_Shift_Ins INS - - G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 20 62221507 62221508 - G INS GMEB2 ENST00000266068 human ensembl 74_37 -1 known frame_shift_ins c.1528_1527 p.G509fs 0.001:0.000 NULL pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB2 HGNC ENSG00000101216 tier1 40 0 0.00 25 2 7.41 GNB2L1 0 genome.wustl.edu 37 5 180669293 180669293 + Missense_Mutation SNP A A C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 5 180669293 180669293 A C SNP GNB2L1 ENST00000512805 human ensembl 74_37 -1 known missense c.162 p.I54M 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,prints_G-protein_beta_WD-40_rep - no_errors GNB2L1 HGNC ENSG00000204628 tier1 - - 13 0 0.00 12 16 57.14 GOLGA8M 0 genome.wustl.edu 37 15 28947154 28947154 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 15 28947154 28947154 G T SNP GOLGA8M ENST00000563027 human ensembl 74_37 -1 novel missense c.1845 p.S615R 0.001 NULL NULL - no_errors GOLGA8M HGNC ENSG00000188626 tier1 - - 161 0 0.00 90 26 22.41 GPATCH4 0 genome.wustl.edu 37 1 156565512 156565512 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 156565512 156565512 G T SNP GPATCH4 ENST00000438976 human ensembl 74_37 -1 known silent c.621 p.P207 0.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH4 HGNC ENSG00000160818 41 0 0.00 30 3 9.09 GRIA4 0 genome.wustl.edu 37 11 105774677 105774677 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 105774677 105774677 G T SNP GRIA4 ENST00000282499 human ensembl 74_37 +1 known missense c.1023 p.Q341H 0.999 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 20 0 0.00 36 2 5.26 GRIN2A 0 genome.wustl.edu 37 16 9858548 9858548 + Silent SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 16 9858548 9858548 C A SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known silent c.2853 p.G951 0.984 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 30 0 0.00 58 4 6.45 GRM8 0 genome.wustl.edu 37 7 126173069 126173069 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 126173069 126173069 G T SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known silent c.2367 p.T789 1.000 pfam_GPCR_3_C,prints_GPCR_3,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 19 0 0.00 43 3 6.52 GSG2 0 genome.wustl.edu 37 17 3629165 3629165 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 17 3629165 3629165 G T SNP GSG2 ENST00000325418 human ensembl 74_37 +1 known nonsense c.1936 p.E646* 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_DUF3635,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors GSG2 HGNC ENSG00000177602 tier1 - - 40 0 0.00 24 4 14.29 GTF2IRD1 0 genome.wustl.edu 37 7 73933774 73933774 + Missense_Mutation SNP T T C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 73933774 73933774 T C SNP GTF2IRD1 ENST00000265755 human ensembl 74_37 +1 known missense c.641 p.L214P 0.982 superfamily_GTF2I,pirsf_TF_II-I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 107 0 0.00 41 4 8.89 HBB 0 genome.wustl.edu 37 11 5248211 5248211 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 5248211 5248211 G A SNP HBB ENST00000335295 human ensembl 74_37 -1 known missense c.41 p.A14V 0.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b - no_errors HBB HGNC ENSG00000244734 35 0 0.00 37 2 5.13 HEATR5A 0 genome.wustl.edu 37 14 31869659 31869659 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 14 31869659 31869659 G T SNP HEATR5A ENST00000389961 human ensembl 74_37 -1 known missense c.186 p.S62R 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 23 0 0.00 39 3 7.14 HIST1H4I 0 genome.wustl.edu 37 6 27107279 27107279 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 27107279 27107279 G T SNP HIST1H4I ENST00000354348 human ensembl 74_37 +1 known missense c.192 p.E64D 1.000 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4I HGNC ENSG00000198339 86 0 0.00 35 2 5.41 HLA-DQA2 0 genome.wustl.edu 37 6 32713674 32713674 + Silent SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 32713674 32713674 C A SNP HLA-DQA2 ENST00000374940 human ensembl 74_37 +1 known silent c.438 p.T146 0.891 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DQA2 HGNC ENSG00000237541 tier1 rs34357612 - 57 0 0.00 95 10 9.52 HLA-DQA2 0 genome.wustl.edu 37 6 32713693 32713693 + Missense_Mutation SNP T T G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 32713693 32713693 T G SNP HLA-DQA2 ENST00000374940 human ensembl 74_37 +1 known missense c.457 p.S153A 0.000 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DQA2 HGNC ENSG00000237541 tier1 rs146057838 - 49 0 0.00 95 15 13.51 HPS3 0 genome.wustl.edu 37 3 148868421 148868421 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 148868421 148868421 C T SNP HPS3 ENST00000296051 human ensembl 74_37 +1 known missense c.1199 p.A400V 0.997 pirsf_HPS3 pirsf_HPS3 - no_errors HPS3 HGNC ENSG00000163755 tier1 rs138874465 - 88 0 0.00 60 6 9.09 HPX 0 genome.wustl.edu 37 11 6461930 6461930 + Silent SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 6461930 6461930 G A SNP HPX ENST00000265983 human ensembl 74_37 -1 known silent c.114 p.G38 0.004 pirsf_Hemopexin_chordata pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata - no_errors HPX HGNC ENSG00000110169 tier1 rs113295804 - 61 0 0.00 30 57 64.77 HSF5 0 genome.wustl.edu 37 17 56536211 56536211 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 17 56536211 56536211 G T SNP HSF5 ENST00000323777 human ensembl 74_37 -1 known missense c.1638 p.S546R 1.000 NULL pfam_HSF_DNA-bd,smart_HSF_DNA-bd - no_errors HSF5 HGNC ENSG00000176160 tier1 - - 32 0 0.00 72 4 5.26 HTT 0 genome.wustl.edu 37 4 3156053 3156054 + Frame_Shift_Ins INS - - T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 4 3156053 3156054 - T INS HTT ENST00000355072 human ensembl 74_37 +1 known frame_shift_ins c.3532_3533 p.S1179fs 0.996:0.997 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 tier1 39 0 0.00 93 11 10.58 HUNK 0 genome.wustl.edu 37 21 33340678 33340678 + Frame_Shift_Del DEL A A - TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 21 33340678 33340678 A - DEL HUNK ENST00000270112 human ensembl 74_37 +1 known frame_shift_del c.991 p.N331fs 0.551 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HUNK HGNC ENSG00000142149 tier1 76 0 0.00 20 2 9.09 HYOU1 0 genome.wustl.edu 37 11 118919484 118919484 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 118919484 118919484 G T SNP HYOU1 ENST00000404233 human ensembl 74_37 -1 known missense c.2107 p.L703M 0.996 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 tier1 - - 52 0 0.00 35 4 10.26 HYOU1 0 genome.wustl.edu 37 11 118919813 118919813 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 118919813 118919813 G T SNP HYOU1 ENST00000404233 human ensembl 74_37 -1 known missense c.1909 p.P637T 0.978 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 tier1 - - 123 0 0.00 95 6 5.94 IAH1 0 genome.wustl.edu 37 2 9628289 9628289 + Missense_Mutation SNP A A G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 9628289 9628289 A G SNP IAH1 ENST00000497473 human ensembl 74_37 +1 known missense c.578 p.Y193C 0.650 pfam_Lipase_GDSL pfam_Lipase_GDSL - no_errors IAH1 HGNC ENSG00000134330 tier1 - - 35 0 0.00 54 11 16.92 IDH2 0 genome.wustl.edu 37 15 90634813 90634813 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 15 90634813 90634813 C T SNP IDH2 ENST00000330062 human ensembl 74_37 -1 known missense c.179 p.R60H 0.994 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP - no_errors IDH2 HGNC ENSG00000182054 tier1 - - 88 0 0.00 49 4 7.55 IKBKAP 0 genome.wustl.edu 37 9 111640376 111640376 + Nonsense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 9 111640376 111640376 C A SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known nonsense c.3754 p.G1252* 1.000 pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 15 0 0.00 44 3 6.38 IMPAD1 0 genome.wustl.edu 37 8 57905881 57905881 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 57905881 57905881 G T SNP IMPAD1 ENST00000262644 human ensembl 74_37 -1 known missense c.264 p.N88K 0.063 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors IMPAD1 HGNC ENSG00000104331 74 0 0.00 57 3 5.00 INPP1 0 genome.wustl.edu 37 2 191224816 191224816 + RNA SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 191224816 191224816 G T SNP INPP1 ENST00000417336 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors INPP1 HGNC ENSG00000151689 tier1 - - 33 0 0.00 36 4 10.00 INTS8 0 genome.wustl.edu 37 8 95888448 95888448 + Splice_Site SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 95888448 95888448 G T SNP INTS8 ENST00000523731 human ensembl 74_37 +1 known splice_site c.2763-1 e25-1 1.000 - - - no_errors INTS8 HGNC ENSG00000164941 26 0 0.00 71 4 5.33 INVS 0 genome.wustl.edu 37 9 103035177 103035177 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 9 103035177 103035177 G T SNP INVS ENST00000262457 human ensembl 74_37 +1 known nonsense c.1603 p.E535* 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 tier1 - - 71 0 0.00 59 4 6.35 JAK3 0 genome.wustl.edu 37 19 17937660 17937660 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 19 17937660 17937660 G T SNP JAK3 ENST00000458235 human ensembl 74_37 -1 known missense c.3267 p.S1089R 0.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 88 0 0.00 30 2 6.25 JMJD1C 0 genome.wustl.edu 37 10 64973574 64973574 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 64973574 64973574 C A SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.2353 p.G785C 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 16 0 0.00 43 4 8.33 JMJD6 0 genome.wustl.edu 37 17 74718004 74718004 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 17 74718004 74718004 G T SNP JMJD6 ENST00000445478 human ensembl 74_37 -1 known missense c.817 p.H273N 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD6 HGNC ENSG00000070495 35 0 0.00 73 4 5.19 JPH4 0 genome.wustl.edu 37 14 24040365 24040365 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 14 24040365 24040365 G T SNP JPH4 ENST00000356300 human ensembl 74_37 -1 known silent c.1575 p.P525 0.981 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH4 HGNC ENSG00000092051 tier1 - - 172 0 0.00 36 13 26.53 KCNH8 0 genome.wustl.edu 37 3 19322812 19322812 + Missense_Mutation SNP A A G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 19322812 19322812 A G SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.433 p.K145E 1.000 pfscan_PAS-assoc_C pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 tier1 - - 15 0 0.00 33 31 47.69 KCNJ16 0 genome.wustl.edu 37 17 68129146 68129146 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 17 68129146 68129146 G T SNP KCNJ16 ENST00000283936 human ensembl 74_37 +1 known missense c.918 p.W306C 0.993 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir - no_errors KCNJ16 HGNC ENSG00000153822 32 0 0.00 38 2 5.00 KCNQ3 0 genome.wustl.edu 37 8 133492434 133492434 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 133492434 133492434 C T SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.346 p.E116K 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 tier1 - - 83 0 0.00 99 14 11.20 KCNQ3 0 genome.wustl.edu 37 8 133492450 133492450 + Silent SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 133492450 133492450 C T SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known silent c.330 p.L110 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 tier1 - - 97 0 0.00 131 14 9.66 KCNQ3 0 genome.wustl.edu 37 8 133492484 133492484 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 133492484 133492484 C T SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.296 p.R99K 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 tier1 - - 94 0 0.00 157 15 8.72 KCNQ3 0 genome.wustl.edu 37 8 133492510 133492510 + Missense_Mutation SNP C C G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 133492510 133492510 C G SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.270 p.K90N 1.000 prints_K_chnl_volt-dep_KCNQ3 pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 tier1 - - 86 0 0.00 140 17 10.83 KCNQ3 0 genome.wustl.edu 37 8 133492540 133492540 + Silent SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 133492540 133492540 C T SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known silent c.240 p.R80 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 tier1 - - 65 0 0.00 112 13 10.40 KCTD12 0 genome.wustl.edu 37 13 77460104 77460104 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 13 77460104 77460104 G T SNP KCTD12 ENST00000317765 human ensembl 74_37 -1 known silent c.180 p.L60 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD12 HGNC ENSG00000178695 tier1 - - 16 0 0.00 14 4 22.22 KHDRBS2 0 genome.wustl.edu 37 6 62604710 62604710 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 62604710 62604710 G T SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.640 p.P214T 0.908 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 tier1 - - 68 0 0.00 48 5 9.43 KIAA0513 0 genome.wustl.edu 37 16 85111135 85111135 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 16 85111135 85111135 G A SNP KIAA0513 ENST00000258180 human ensembl 74_37 +1 known missense c.679 p.A227T 0.998 NULL pfam_SBF2 - no_errors KIAA0513 HGNC ENSG00000135709 tier1 - - 230 0 0.00 77 33 30.00 KIF1B 0 genome.wustl.edu 37 1 10364187 10364187 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 10364187 10364187 G T SNP KIF1B ENST00000377083 human ensembl 74_37 +1 known nonsense c.2944 p.E982* 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 tier1 - - 36 0 0.00 41 4 8.89 KIF26B 0 genome.wustl.edu 37 1 245849384 245849384 + Silent SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 245849384 245849384 C T SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known silent c.3099 p.S1033 0.000 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 - - 52 0 0.00 3 9 75.00 KRT23 0 genome.wustl.edu 37 17 39092550 39092550 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 17 39092550 39092550 G T SNP KRT23 ENST00000209718 human ensembl 74_37 -1 known missense c.306 p.S102R 0.010 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT23 HGNC ENSG00000108244 tier1 - - 105 0 0.00 76 4 5.00 KRT72 0 genome.wustl.edu 37 12 52984742 52984742 + Nonsense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 52984742 52984742 G A SNP KRT72 ENST00000293745 human ensembl 74_37 -1 known nonsense c.967 p.Q323* 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 tier1 - - 42 0 0.00 32 8 20.00 LCLAT1 0 genome.wustl.edu 37 2 30863186 30863186 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 30863186 30863186 C T SNP LCLAT1 ENST00000309052 human ensembl 74_37 +1 known missense c.946 p.R316C 0.995 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LCLAT1 HGNC ENSG00000172954 27 0 0.00 35 2 5.41 LCT 0 genome.wustl.edu 37 2 136579654 136579654 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 136579654 136579654 G T SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.922 p.Q308K 0.002 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 14 0 0.00 61 4 6.15 LDLRAD1 0 genome.wustl.edu 37 1 54474711 54474711 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 54474711 54474711 C T SNP LDLRAD1 ENST00000371360 human ensembl 74_37 -1 known missense c.562 p.D188N 0.971 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLRAD1 HGNC ENSG00000203985 tier1 - - 47 0 0.00 34 8 19.05 LEPREL1 0 genome.wustl.edu 37 3 189692408 189692408 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 189692408 189692408 C T SNP LEPREL1 ENST00000319332 human ensembl 74_37 -1 known missense c.1391 p.R464Q 1.000 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 tier1 - - 59 0 0.00 26 12 31.58 LNX1 0 genome.wustl.edu 37 4 54373551 54373551 + Silent SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 4 54373551 54373551 G A SNP LNX1 ENST00000263925 human ensembl 74_37 -1 known silent c.708 p.S236 0.979 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC ENSG00000072201 tier1 - - 35 0 0.00 58 11 15.94 LOC440040 0 genome.wustl.edu 37 11 49805489 49805489 + RNA SNP A A C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 49805489 49805489 A C SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 tier1 - - 91 0 0.00 51 8 13.56 LONP2 0 genome.wustl.edu 37 16 48368153 48368153 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 16 48368153 48368153 G T SNP LONP2 ENST00000285737 human ensembl 74_37 +1 known nonsense c.1822 p.E608* 0.450 tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP2 HGNC ENSG00000102910 18 0 0.00 32 4 11.11 LPA 0 genome.wustl.edu 37 6 160963720 160963720 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 160963720 160963720 C A SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.5519 p.R1840M 1.000 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 tier1 - - 76 0 0.00 160 83 34.16 LPO 0 genome.wustl.edu 37 17 56345181 56345181 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 17 56345181 56345181 C A SNP LPO ENST00000262290 human ensembl 74_37 +1 known missense c.1965 p.N655K 0.001 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 76 0 0.00 35 3 7.89 LRIT3 0 genome.wustl.edu 37 4 110791309 110791309 + Silent SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 4 110791309 110791309 G A SNP LRIT3 ENST00000594814 human ensembl 74_37 +1 known silent c.1404 p.K468 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT3 HGNC ENSG00000183423 tier1 - - 17 0 0.00 45 11 19.64 LRRIQ3 0 genome.wustl.edu 37 1 74540391 74540391 + Silent SNP T T C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 74540391 74540391 T C SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known silent c.951 p.K317 0.977 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 tier1 - - 21 0 0.00 17 16 48.48 LRTM1 0 genome.wustl.edu 37 3 54958816 54958816 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 54958816 54958816 C A SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.434 p.W145L 0.923 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 11 0 0.00 27 4 12.90 LSP1 0 genome.wustl.edu 37 11 1908055 1908055 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 1908055 1908055 G T SNP LSP1 ENST00000311604 human ensembl 74_37 +1 known nonsense c.811 p.E271* 0.993 pfam_Caldesmon_LSP,prints_Lymphspecific pfam_Caldesmon_LSP,prints_Lymphspecific - no_errors LSP1 HGNC ENSG00000130592 tier1 - - 168 0 0.00 105 6 5.41 LXN 0 genome.wustl.edu 37 3 158384523 158384523 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 158384523 158384523 G T SNP LXN ENST00000264265 human ensembl 74_37 -1 known missense c.581 p.P194H 0.998 pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin - no_errors LXN HGNC ENSG00000079257 13 0 0.00 39 4 9.09 LYST 0 genome.wustl.edu 37 1 235878571 235878571 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 235878571 235878571 G T SNP LYST ENST00000389793 human ensembl 74_37 -1 known silent c.9714 p.S3238 0.971 pfam_BEACH_dom,superfamily_BEACH_dom,superfamily_ARM-type_fold,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 tier1 - - 36 0 0.00 67 4 5.63 MACF1 0 genome.wustl.edu 37 1 39765985 39765985 + Nonsense_Mutation SNP T T A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 39765985 39765985 T A SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known nonsense c.2600 p.L867* 0.996 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 29 0 0.00 49 4 7.55 MAML2 0 genome.wustl.edu 37 11 95825372 95825374 + In_Frame_Del DEL TGT TGT - TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 95825372 95825374 TGT - DEL MAML2 ENST00000524717 human ensembl 74_37 -1 known in_frame_del c.1823_1821 p.Q611in_frame_del 0.003:0.003:0.003 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 tier1 71 0 0.00 41 5 10.87 MAN1A1 0 genome.wustl.edu 37 6 119623233 119623233 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 119623233 119623233 C A SNP MAN1A1 ENST00000368468 human ensembl 74_37 -1 known missense c.736 p.D246Y 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A1 HGNC ENSG00000111885 tier1 - - 22 0 0.00 85 34 28.57 MAP3K1 0 genome.wustl.edu 37 5 56181839 56181839 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 5 56181839 56181839 C T SNP MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel missense c.4063 p.R1355C 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 tier1 - - 24 0 0.00 49 15 23.44 MAP3K19 0 genome.wustl.edu 37 2 135756498 135756498 + Silent SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 135756498 135756498 C T SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known silent c.384 p.T128 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K19 HGNC ENSG00000176601 tier1 - - 23 0 0.00 25 14 35.90 MASP1 0 genome.wustl.edu 37 3 186953746 186953746 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 186953746 186953746 G A SNP MASP1 ENST00000296280 human ensembl 74_37 -1 known missense c.1913 p.S638L 0.964 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors MASP1 HGNC ENSG00000127241 tier1 - - 37 0 0.00 11 4 26.67 MAST4 0 genome.wustl.edu 37 5 66430447 66430447 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 5 66430447 66430447 G T SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known nonsense c.2332 p.E778* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 46 0 0.00 74 4 5.13 MBOAT1 0 genome.wustl.edu 37 6 20152953 20152953 + Missense_Mutation SNP C C G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 20152953 20152953 C G SNP MBOAT1 ENST00000324607 human ensembl 74_37 -1 known missense c.147 p.W49C 1.000 NULL pfam_MBOAT_fam - no_errors MBOAT1 HGNC ENSG00000172197 tier1 - - 38 0 0.00 11 38 77.55 MBOAT7 0 genome.wustl.edu 37 19 54692105 54692105 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 19 54692105 54692105 G T SNP MBOAT7 ENST00000245615 human ensembl 74_37 -1 known missense c.172 p.L58I 1.000 NULL pfam_MBOAT_fam - no_errors MBOAT7 HGNC ENSG00000125505 tier1 - - 186 0 0.00 58 4 6.45 MCF2L2 0 genome.wustl.edu 37 3 183107506 183107506 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 183107506 183107506 G T SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known missense c.138 p.H46Q 1.000 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom 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 MCF2L2 HGNC ENSG00000053524 28 0 0.00 72 4 5.26 MDC1 0 genome.wustl.edu 37 6 30671202 30671202 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 30671202 30671202 G T SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.5675 p.A1892D 0.018 pfscan_BRCT_dom pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 tier1 - - 51 0 0.00 37 4 9.76 MDM4 0 genome.wustl.edu 37 1 204515937 204515937 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 204515937 204515937 G T SNP MDM4 ENST00000367182 human ensembl 74_37 +1 known nonsense c.835 p.G279* 0.298 pirsf_p53_neg-reg_MDM_2/4 pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM4 HGNC ENSG00000198625 17 0 0.00 38 4 9.52 MECP2 0 genome.wustl.edu 37 X 153295922 153295922 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e X 153295922 153295922 G T SNP MECP2 ENST00000303391 human ensembl 74_37 -1 known silent c.1357 p.R453 1.000 pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 37 0 0.00 50 4 7.41 MEIOB 0 genome.wustl.edu 37 16 1904192 1904192 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 16 1904192 1904192 G T SNP MEIOB ENST00000325962 human ensembl 74_37 -1 known missense c.538 p.P180T 0.995 superfamily_NA-bd_OB-fold superfamily_NA-bd_OB-fold - no_errors MEIOB HGNC ENSG00000162039 22 0 0.00 70 4 5.41 MIF4GD 0 genome.wustl.edu 37 17 73265466 73265466 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 17 73265466 73265466 G T SNP MIF4GD ENST00000577542 human ensembl 74_37 -1 known missense c.167 p.S56Y 0.023 superfamily_ARM-type_fold pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold - no_errors MIF4GD HGNC ENSG00000125457 15 0 0.00 23 3 11.54 MKL2 0 genome.wustl.edu 37 16 14234591 14234592 + Frame_Shift_Ins INS - - A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 16 14234591 14234592 - A INS MKL2 ENST00000318282 human ensembl 74_37 +1 known frame_shift_ins c.128_129 p.P44fs 0.954:0.947 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL2 HGNC ENSG00000186260 tier1 41 0 0.00 29 20 40.82 MLLT3 0 genome.wustl.edu 37 9 20413890 20413890 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 9 20413890 20413890 G T SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.954 p.L318 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 tier1 - - 33 0 0.00 78 5 6.02 MR1 0 genome.wustl.edu 37 1 181021634 181021634 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 181021634 181021634 C A SNP MR1 ENST00000367580 human ensembl 74_37 +1 known missense c.868 p.Q290K 0.965 pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors MR1 HGNC ENSG00000153029 27 0 0.00 30 2 6.25 MTMR6 0 genome.wustl.edu 37 13 25825857 25825857 + Missense_Mutation SNP A A G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 13 25825857 25825857 A G SNP MTMR6 ENST00000381801 human ensembl 74_37 -1 known missense c.1535 p.V512A 0.664 NULL pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR6 HGNC ENSG00000139505 tier1 - - 22 0 0.00 34 34 50.00 MTMR6 0 genome.wustl.edu 37 13 25832791 25832791 + Nonsense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 13 25832791 25832791 C A SNP MTMR6 ENST00000381801 human ensembl 74_37 -1 known nonsense c.766 p.E256* 1.000 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR6 HGNC ENSG00000139505 24 0 0.00 70 5 6.67 MTOR 0 genome.wustl.edu 37 1 11269374 11269374 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 11269374 11269374 G T SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.3796 p.Q1266K 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 tier1 - - 28 0 0.00 50 4 7.41 MUC12 0 genome.wustl.edu 37 7 100646172 100646172 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 100646172 100646172 C A SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.12328 p.R4110S 0.022 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 103 0 0.00 15 15 50.00 MUC19 0 genome.wustl.edu 37 12 40834620 40834620 + Silent SNP T T G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 40834620 40834620 T G SNP MUC19 ENST00000454784 human ensembl 74_37 +1 novel silent c.1863 p.V621 0.206 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 16 0 0.00 30 21 41.18 MUT 0 genome.wustl.edu 37 6 49425720 49425720 + Missense_Mutation SNP T T C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 49425720 49425720 T C SNP MUT ENST00000274813 human ensembl 74_37 -1 known missense c.437 p.Y146C 1.000 pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C - no_errors MUT HGNC ENSG00000146085 tier1 - - 24 0 0.00 31 12 27.91 MYC 0 genome.wustl.edu 37 8 128750895 128750895 + Silent SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 128750895 128750895 C T SNP MYC ENST00000377970 human ensembl 74_37 +1 known silent c.432 p.I144 1.000 pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYC HGNC ENSG00000136997 tier1 - - 68 0 0.00 154 14 8.33 MYL1 0 genome.wustl.edu 37 2 211158470 211158470 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 211158470 211158470 G T SNP MYL1 ENST00000352451 human ensembl 74_37 -1 known missense c.533 p.S178Y 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL1 HGNC ENSG00000168530 11 0 0.00 30 2 6.25 MYO5B 0 genome.wustl.edu 37 18 47363917 47363917 + Missense_Mutation SNP A A G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 18 47363917 47363917 A G SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known missense c.5108 p.V1703A 1.000 pfam_Dil_domain,pfscan_Dilute pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 tier1 rs138128932 - 33 0 0.00 53 7 11.48 MYOC 0 genome.wustl.edu 37 1 171605571 171605571 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 171605571 171605571 G T SNP MYOC ENST00000037502 human ensembl 74_37 -1 known missense c.1009 p.Q337K 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors MYOC HGNC ENSG00000034971 tier1 - - 83 0 0.00 60 4 6.25 NAA50 0 genome.wustl.edu 37 3 113442354 113442354 + Silent SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 113442354 113442354 G A SNP NAA50 ENST00000240922 human ensembl 74_37 -1 known silent c.180 p.C60 1.000 pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA50 HGNC ENSG00000121579 16 0 0.00 32 2 5.88 NALCN 0 genome.wustl.edu 37 13 101733971 101733971 + Silent SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 13 101733971 101733971 C T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known silent c.3792 p.S1264 0.663 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 rs150385138 - 33 0 0.00 17 51 75.00 NCAPD3 0 genome.wustl.edu 37 11 134086947 134086947 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 134086947 134086947 G T SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known missense c.265 p.L89M 0.693 pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 21 0 0.00 75 4 5.06 NDN 0 genome.wustl.edu 37 15 23932017 23932017 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 15 23932017 23932017 C A SNP NDN ENST00000331837 human ensembl 74_37 -1 known missense c.348 p.K116N 0.820 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 68 0 0.00 33 2 5.71 NEFM 0 genome.wustl.edu 37 8 24774935 24774935 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 24774935 24774935 G T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known nonsense c.1567 p.E523* 1.000 NULL pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 9 0 0.00 52 4 7.14 NFATC1 0 genome.wustl.edu 37 18 77246359 77246359 + Missense_Mutation SNP C C G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 18 77246359 77246359 C G SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known missense c.2204 p.A735G 0.032 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 tier1 - - 50 0 0.00 7 32 82.05 NHSL1 0 genome.wustl.edu 37 6 138754115 138754115 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 138754115 138754115 G T SNP NHSL1 ENST00000427025 human ensembl 74_37 -1 known missense c.1379 p.S460Y 0.894 NULL NULL - no_errors NHSL1 HGNC ENSG00000135540 tier1 - - 50 0 0.00 40 4 9.09 NKPD1 0 genome.wustl.edu 37 19 45659086 45659086 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 19 45659086 45659086 G T SNP NKPD1 ENST00000317951 human ensembl 74_37 -1 known silent c.618 p.A206 1.000 pfam_KAP_NTPase pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 84 0 0.00 70 4 5.41 NOD1 0 genome.wustl.edu 37 7 30491747 30491747 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 30491747 30491747 G T SNP NOD1 ENST00000222823 human ensembl 74_37 -1 known missense c.1286 p.T429N 0.950 pfscan_NACHT_NTPase pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 tier1 - - 85 0 0.00 32 4 11.11 NOVA2 0 genome.wustl.edu 37 19 46464310 46464310 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 19 46464310 46464310 C T SNP NOVA2 ENST00000263257 human ensembl 74_37 -1 known missense c.187 p.G63R 0.993 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA2 HGNC ENSG00000104967 tier1 - - 85 0 0.00 19 24 55.81 NOX4 0 genome.wustl.edu 37 11 89133193 89133193 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 89133193 89133193 G T SNP NOX4 ENST00000413594 human ensembl 74_37 -1 known missense c.1129 p.L377I 1.000 pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX4 HGNC ENSG00000086991 22 0 0.00 51 4 7.27 NPHP4 0 genome.wustl.edu 37 1 5934999 5934999 + Frame_Shift_Del DEL A A - TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 5934999 5934999 A - DEL NPHP4 ENST00000378156 human ensembl 74_37 -1 known frame_shift_del c.2979 p.F993fs 0.800 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 tier1 83 0 0.00 13 2 13.33 NR1D2 0 genome.wustl.edu 37 3 24004096 24004096 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 24004096 24004096 G T SNP NR1D2 ENST00000312521 human ensembl 74_37 +1 known silent c.1146 p.L382 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D2 HGNC ENSG00000174738 tier1 - - 12 0 0.00 19 4 17.39 NRG3 0 genome.wustl.edu 37 10 83635710 83635710 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 83635710 83635710 C T SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.614 p.T205M 0.950 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 tier1 - - 192 0 0.00 77 25 24.51 NRP2 0 genome.wustl.edu 37 2 206656994 206656994 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 206656994 206656994 G T SNP NRP2 ENST00000360409 human ensembl 74_37 +1 known nonsense c.2476 p.E826* 1.000 pirsf_Neuropilin pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 25 0 0.00 56 3 5.08 NT5C3AP1 0 genome.wustl.edu 37 4 118497239 118497239 + RNA SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 4 118497239 118497239 G A SNP NT5C3AP1 ENST00000441170 human ensembl 74_37 -1 known rna NULL NULL 0.971 - - - no_errors NT5C3AP1 HGNC ENSG00000213492 tier1 - - 67 0 0.00 17 29 63.04 NUP188 0 genome.wustl.edu 37 9 131761962 131761962 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 9 131761962 131761962 G T SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known nonsense c.3721 p.E1241* 1.000 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 45 0 0.00 33 2 5.71 OAS3 0 genome.wustl.edu 37 12 113388603 113388603 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 113388603 113388603 G T SNP OAS3 ENST00000228928 human ensembl 74_37 +1 known missense c.1480 p.A494S 0.000 pfscan_2-5-oligoadenylate_synth_N pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 tier1 - - 75 0 0.00 28 4 12.50 OGDHL 0 genome.wustl.edu 37 10 50966616 50966616 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 50966616 50966616 G T SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.23 p.P8Q 0.909 NULL pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 106 0 0.00 44 3 6.38 OPRM1 0 genome.wustl.edu 37 6 154431489 154431489 + Splice_Site SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 154431489 154431489 G T SNP OPRM1 ENST00000452687 human ensembl 74_37 +1 known splice_site c.1165-1 e4-1 0.141 - - - no_errors OPRM1 HGNC ENSG00000112038 tier1 - - 10 0 0.00 33 13 28.26 OR2J1 0 genome.wustl.edu 37 6 29068980 29068980 + Nonsense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 29068980 29068980 G A SNP OR2J1 ENST00000377171 human ensembl 74_37 +1 known nonsense c.261 p.W87* 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 tier1 - - 40 0 0.00 15 27 64.29 OR6C65 0 genome.wustl.edu 37 12 55794997 55794997 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 55794997 55794997 G T SNP OR6C65 ENST00000379665 human ensembl 74_37 +1 known missense c.685 p.A229S 0.118 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR6C65 HGNC ENSG00000205328 23 0 0.00 69 4 5.48 OR6K3 0 genome.wustl.edu 37 1 158687373 158687373 + Missense_Mutation SNP A A G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 158687373 158687373 A G SNP OR6K3 ENST00000368146 human ensembl 74_37 -1 known missense c.581 p.F194S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 tier1 - - 14 0 0.00 19 9 32.14 OR6N1 0 genome.wustl.edu 37 1 158735662 158735662 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 158735662 158735662 C T SNP OR6N1 ENST00000335094 human ensembl 74_37 -1 known missense c.811 p.D271N 0.272 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N1 HGNC ENSG00000197403 tier1 rs150263738 - 49 0 0.00 50 10 16.67 OR7C1 0 genome.wustl.edu 37 19 14910316 14910316 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 19 14910316 14910316 G T SNP OR7C1 ENST00000248073 human ensembl 74_37 -1 known missense c.633 p.F211L 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7C1 HGNC ENSG00000127530 31 0 0.00 34 2 5.56 OSER1 0 genome.wustl.edu 37 20 42825850 42825850 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 20 42825850 42825850 G T SNP OSER1 ENST00000255174 human ensembl 74_37 -1 known missense c.721 p.L241M 0.954 NULL pfam_DUF776 - no_errors OSER1 HGNC ENSG00000132823 26 0 0.00 49 4 7.55 OTOGL 0 genome.wustl.edu 37 12 80665587 80665587 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 80665587 80665587 C A SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known missense c.2651 p.P884Q 1.000 superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,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 OTOGL HGNC ENSG00000165899 26 0 0.00 70 4 5.41 OTUD7B 0 genome.wustl.edu 37 1 149936185 149936185 + Frame_Shift_Del DEL T T - TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 149936185 149936185 T - DEL OTUD7B ENST00000369135 human ensembl 74_37 -1 known frame_shift_del c.694 p.R232fs 1.000 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 tier1 34 0 0.00 38 4 9.52 OTUD7B 0 genome.wustl.edu 37 1 149936261 149936261 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 149936261 149936261 G T SNP OTUD7B ENST00000369135 human ensembl 74_37 -1 known missense c.618 p.F206L 1.000 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 24 0 0.00 51 3 5.56 OTX2 0 genome.wustl.edu 37 14 57270953 57270953 + Nonsense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 14 57270953 57270953 G A SNP OTX2 ENST00000339475 human ensembl 74_37 -1 known nonsense c.226 p.R76* 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx2_TF,prints_Otx_TF - no_errors OTX2 HGNC ENSG00000165588 57 0 0.00 21 2 8.70 PABPC3 0 genome.wustl.edu 37 13 25670851 25670851 + Missense_Mutation SNP A A G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 13 25670851 25670851 A G SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known missense c.515 p.Q172R 1.000 pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 22 0 0.00 64 4 5.88 PAIP1 0 genome.wustl.edu 37 5 43547975 43547975 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 5 43547975 43547975 G T SNP PAIP1 ENST00000306846 human ensembl 74_37 -1 known nonsense c.476 p.S159* 0.996 superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Ataxin-2_C,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors PAIP1 HGNC ENSG00000172239 23 0 0.00 51 3 5.56 PAPPA 0 genome.wustl.edu 37 9 118974036 118974036 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 9 118974036 118974036 G T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.1743 p.Q581H 1.000 pfam_Peptidase_M43 pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 48 0 0.00 58 4 6.45 PCDH8 0 genome.wustl.edu 37 13 53421446 53421446 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 13 53421446 53421446 C T SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known missense c.1126 p.A376T 0.952 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 14 0 0.00 3 3 50.00 PCK1 0 genome.wustl.edu 37 20 56138620 56138620 + Splice_Site SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 20 56138620 56138620 G T SNP PCK1 ENST00000319441 human ensembl 74_37 +1 known splice_site c.799-1 e5-1 1.000 - - - no_errors PCK1 HGNC ENSG00000124253 tier1 - - 66 0 0.00 69 4 5.48 PDZD2 0 genome.wustl.edu 37 5 31983752 31983752 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 5 31983752 31983752 G T SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.968 p.C323F 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 20 0 0.00 36 4 10.00 PEX14 0 genome.wustl.edu 37 1 10659345 10659345 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 10659345 10659345 G T SNP PEX14 ENST00000356607 human ensembl 74_37 +1 known missense c.220 p.A74S 0.748 pfam_Pex14_N pfam_Pex14_N - no_errors PEX14 HGNC ENSG00000142655 58 0 0.00 34 2 5.56 PFKFB2 0 genome.wustl.edu 37 1 207244561 207244561 + Silent SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 207244561 207244561 C T SNP PFKFB2 ENST00000367080 human ensembl 74_37 +1 known silent c.1251 p.L417 0.986 pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB2 HGNC ENSG00000123836 tier1 - - 18 0 0.00 23 19 45.24 PHAX 0 genome.wustl.edu 37 5 125960471 125960471 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 5 125960471 125960471 G T SNP PHAX ENST00000297540 human ensembl 74_37 +1 known nonsense c.1120 p.E374* 0.981 NULL pfam_PHAX_RNA-binding_domain - no_errors PHAX HGNC ENSG00000164902 8 0 0.00 40 3 6.98 PHF17 0 genome.wustl.edu 37 4 129767562 129767562 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 4 129767562 129767562 G T SNP PHF17 ENST00000226319 human ensembl 74_37 +1 known missense c.171 p.K57N 0.909 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC ENSG00000077684 tier1 - - 36 0 0.00 52 4 7.14 PHTF1 0 genome.wustl.edu 37 1 114255944 114255944 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 114255944 114255944 G T SNP PHTF1 ENST00000369604 human ensembl 74_37 -1 known missense c.740 p.T247K 0.009 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 19 0 0.00 63 4 5.97 PKHD1L1 0 genome.wustl.edu 37 8 110393634 110393634 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 110393634 110393634 G A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.199 p.D67N 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 17 0 0.00 110 21 16.03 PLCD3 0 genome.wustl.edu 37 17 43189975 43189975 + RNA SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 17 43189975 43189975 G T SNP PLCD3 ENST00000540511 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PLCD3 HGNC ENSG00000161714 tier1 - - 69 0 0.00 46 4 8.00 PLCE1 0 genome.wustl.edu 37 10 96084118 96084118 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 96084118 96084118 G A SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.6514 p.A2172T 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 tier1 - - 21 0 0.00 8 38 82.61 PLTP 0 genome.wustl.edu 37 20 44536519 44536519 + Silent SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 20 44536519 44536519 C T SNP PLTP ENST00000542937 human ensembl 74_37 -1 known silent c.570 p.T190 0.098 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors PLTP HGNC ENSG00000100979 tier1 - - 64 0 0.00 29 29 50.00 PM20D2 0 genome.wustl.edu 37 6 89859017 89859017 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 89859017 89859017 G T SNP PM20D2 ENST00000275072 human ensembl 74_37 +1 known missense c.499 p.G167C 1.000 pfam_Peptidase_M20,pirsf_Pept_M20D_amidohydro_pred pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred - no_errors PM20D2 HGNC ENSG00000146281 tier1 - - 27 0 0.00 50 4 7.41 PODXL 0 genome.wustl.edu 37 7 131195807 131195807 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 131195807 131195807 G T SNP PODXL ENST00000541194 human ensembl 74_37 -1 known missense c.492 p.S164R 0.000 pirsf_Podocalyxin-like_p1 pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1 - no_errors PODXL HGNC ENSG00000128567 103 0 0.00 51 4 7.27 POLR1A 0 genome.wustl.edu 37 2 86281401 86281401 + Silent SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 86281401 86281401 C T SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known silent c.2070 p.T690 0.006 pfam_RNA_pol_Rpb1_3 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 tier1 - - 26 0 0.00 29 25 46.30 POLR2J4 0 genome.wustl.edu 37 7 43992661 43992661 + RNA SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 43992661 43992661 G T SNP POLR2J4 ENST00000427076 human ensembl 74_37 -1 known rna NULL NULL 0.359 - - - no_errors POLR2J4 HGNC ENSG00000214783 tier1 - - 33 0 0.00 8 3 27.27 POTEC 0 genome.wustl.edu 37 18 14543325 14543325 + RNA SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 18 14543325 14543325 C A SNP POTEC ENST00000389891 human ensembl 74_37 -1 known rna NULL NULL 0.022 - - - no_errors POTEC HGNC ENSG00000183206 tier1 - - 76 0 0.00 27 4 12.90 PPP2R3A 0 genome.wustl.edu 37 3 135720957 135720957 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 135720957 135720957 C A SNP PPP2R3A ENST00000264977 human ensembl 74_37 +1 known missense c.617 p.S206Y 1.000 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 22 0 0.00 57 3 5.00 PRDM1 0 genome.wustl.edu 37 6 106553658 106553658 + Silent SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 106553658 106553658 C A SNP PRDM1 ENST00000369096 human ensembl 74_37 +1 known silent c.1623 p.P541 1.000 pirsf_Znf_PRDM1 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC ENSG00000057657 70 0 0.00 23 2 8.00 PRDM5 0 genome.wustl.edu 37 4 121737722 121737722 + Nonsense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 4 121737722 121737722 G A SNP PRDM5 ENST00000264808 human ensembl 74_37 -1 known nonsense c.751 p.Q251* 1.000 smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 14 0 0.00 11 3 21.43 PTPRC 0 genome.wustl.edu 37 1 198697520 198697520 + Nonsense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 198697520 198697520 C A SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known nonsense c.1772 p.S591* 0.998 pirsf_Leukocyte_common_ag pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 20 0 0.00 26 2 7.14 PTPRM 0 genome.wustl.edu 37 18 7949302 7949302 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 18 7949302 7949302 C T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.787 p.R263C 0.996 smart_Ig_sub,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 25 0 0.00 66 5 7.04 PTPRM 0 genome.wustl.edu 37 18 8143707 8143707 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 18 8143707 8143707 G T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.2230 p.A744S 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 29 0 0.00 64 4 5.88 PTPRR 0 genome.wustl.edu 37 12 71050497 71050497 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 71050497 71050497 G T SNP PTPRR ENST00000283228 human ensembl 74_37 -1 known missense c.1867 p.L623I 1.000 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 12 0 0.00 30 2 6.25 PXN 0 genome.wustl.edu 37 12 120661550 120661550 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 120661550 120661550 G T SNP PXN ENST00000267257 human ensembl 74_37 -1 known silent c.327 p.S109 0.975 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin - no_errors PXN HGNC ENSG00000089159 126 0 0.00 48 4 7.69 PYGB 0 genome.wustl.edu 37 20 25259011 25259011 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 20 25259011 25259011 G T SNP PYGB ENST00000216962 human ensembl 74_37 +1 known silent c.912 p.T304 0.941 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 tier1 - - 70 0 0.00 67 5 6.94 PYGM 0 genome.wustl.edu 37 11 64522770 64522770 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 64522770 64522770 G T SNP PYGM ENST00000164139 human ensembl 74_37 -1 known missense c.830 p.S277Y 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 tier1 - - 79 0 0.00 32 4 11.11 QRICH2 0 genome.wustl.edu 37 17 74287508 74287508 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 17 74287508 74287508 G T SNP QRICH2 ENST00000262765 human ensembl 74_37 -1 known missense c.2802 p.F934L 0.000 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 34 0 0.00 40 4 9.09 RAB2B 0 genome.wustl.edu 37 14 21931862 21931862 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 14 21931862 21931862 G T SNP RAB2B ENST00000397762 human ensembl 74_37 -1 known missense c.427 p.L143I 0.506 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB2B HGNC ENSG00000129472 22 0 0.00 35 3 7.89 RALBP1 0 genome.wustl.edu 37 18 9522403 9522403 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 18 9522403 9522403 C A SNP RALBP1 ENST00000019317 human ensembl 74_37 +1 known missense c.949 p.L317M 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors RALBP1 HGNC ENSG00000017797 33 0 0.00 87 6 6.45 RAP1GDS1 0 genome.wustl.edu 37 4 99341172 99341172 + Missense_Mutation SNP A A G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 4 99341172 99341172 A G SNP RAP1GDS1 ENST00000339360 human ensembl 74_37 +1 known missense c.1180 p.I394V 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors RAP1GDS1 HGNC ENSG00000138698 tier1 - - 33 0 0.00 54 24 30.77 RAPGEF4 0 genome.wustl.edu 37 2 173901421 173901421 + Splice_Site SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 173901421 173901421 G T SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known splice_site c.2853+1 e29+1 1.000 - - - no_errors RAPGEF4 HGNC ENSG00000091428 15 0 0.00 63 4 5.97 RAPSN 0 genome.wustl.edu 37 11 47463408 47463408 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 47463408 47463408 G T SNP RAPSN ENST00000298854 human ensembl 74_37 -1 known missense c.756 p.F252L 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_Rapsyn_myristoylation/link_N,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING,prints_Postsynaptic - no_errors RAPSN HGNC ENSG00000165917 tier1 - - 61 0 0.00 23 4 14.81 RASA2 0 genome.wustl.edu 37 3 141305501 141305501 + Missense_Mutation SNP A A G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 141305501 141305501 A G SNP RASA2 ENST00000452898 human ensembl 74_37 +1 known missense c.1840 p.R614G 1.000 pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGAP,pfam_C2_dom,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC ENSG00000155903 14 0 0.00 57 4 6.56 RBM12 0 genome.wustl.edu 37 20 34242887 34242887 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 20 34242887 34242887 G T SNP RBM12 ENST00000359646 human ensembl 74_37 -1 known missense c.358 p.P120T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC ENSG00000244462 33 0 0.00 75 4 5.06 RBM26 0 genome.wustl.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 13 79918806 79918807 0 T INS RBM26 ENST00000438724 human ensembl 74_37 -1 known frame_shift_ins c.2110_2109 p.Q703fs 1.000:1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 13 0 0.00 113 7 5.83 RECK 0 genome.wustl.edu 37 9 36118794 36118794 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 9 36118794 36118794 G T SNP RECK ENST00000377966 human ensembl 74_37 +1 known missense c.2294 p.G765V 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom - no_errors RECK HGNC ENSG00000122707 27 0 0.00 29 2 6.45 RET 0 genome.wustl.edu 37 10 43609092 43609092 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 43609092 43609092 G T SNP RET ENST00000355710 human ensembl 74_37 +1 known missense c.1848 p.E616D 0.999 pirsf_Tyr_kinase_Ret_rcpt pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 134 0 0.00 60 4 6.25 RFX3 0 genome.wustl.edu 37 9 3247930 3247930 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 9 3247930 3247930 G T SNP RFX3 ENST00000302303 human ensembl 74_37 -1 known missense c.2070 p.N690K 0.003 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 18 0 0.00 54 3 5.26 RGAG4 0 genome.wustl.edu 37 X 71349781 71349781 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e X 71349781 71349781 C T SNP RGAG4 ENST00000479991 human ensembl 74_37 -1 known missense c.1610 p.R537H 0.237 NULL pfam_Retrotrans_gag_dom - no_errors RGAG4 HGNC ENSG00000242732 tier1 - - 37 0 0.00 5 18 78.26 RGS22 0 genome.wustl.edu 37 8 101014554 101014554 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 101014554 101014554 C A SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known missense c.2666 p.R889L 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 11 0 0.00 53 4 7.02 RHNO1 0 genome.wustl.edu 37 12 2997517 2997517 + Silent SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 2997517 2997517 C A SNP RHNO1 ENST00000489288 human ensembl 74_37 +1 known silent c.609 p.P203 0.026 NULL NULL - no_errors RHNO1 HGNC ENSG00000171792 15 0 0.00 43 4 8.51 RIMS1 0 genome.wustl.edu 37 6 72974683 72974683 + Missense_Mutation SNP T T G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 72974683 72974683 T G SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.3122 p.L1041R 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 21 0 0.00 28 23 45.10 RNF138 0 genome.wustl.edu 37 18 29704766 29704766 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 18 29704766 29704766 G T SNP RNF138 ENST00000261593 human ensembl 74_37 +1 known silent c.519 p.L173 1.000 smart_Znf_RING pfam_Znf_MIZ,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF138 HGNC ENSG00000134758 9 0 0.00 69 4 5.48 RNF146 0 genome.wustl.edu 37 6 127608469 127608469 + Silent SNP T T C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 127608469 127608469 T C SNP RNF146 ENST00000368314 human ensembl 74_37 +1 known silent c.711 p.P237 0.987 NULL pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING - no_errors RNF146 HGNC ENSG00000118518 15 0 0.00 34 2 5.56 ROBO1 0 genome.wustl.edu 37 3 78649389 78649389 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 78649389 78649389 G T SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.4815 p.S1605R 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 14 0 0.00 46 3 6.12 ROBO2 0 genome.wustl.edu 37 3 77600066 77600066 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 77600066 77600066 C T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.1157 p.A386V 0.999 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 tier1 rs199705591 - 32 0 0.00 23 35 60.34 RUVBL1 0 genome.wustl.edu 37 3 127801415 127801415 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 127801415 127801415 G T SNP RUVBL1 ENST00000322623 human ensembl 74_37 -1 known silent c.1122 p.I374 1.000 pfam_TIP49_C,superfamily_P-loop_NTPase pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase - no_errors RUVBL1 HGNC ENSG00000175792 62 0 0.00 35 2 5.41 RYR3 0 genome.wustl.edu 37 15 33993251 33993251 + Silent SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 15 33993251 33993251 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.6453 p.A2151 0.007 pfam_Ca-rel_channel pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 50 0 0.00 38 15 28.30 SALL1 0 genome.wustl.edu 37 16 51175812 51175812 + Silent SNP T T C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 16 51175812 51175812 T C SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known silent c.321 p.Q107 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 109 0 0.00 50 32 39.02 SAMD9 0 genome.wustl.edu 37 7 92733038 92733038 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 92733038 92733038 G T SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known nonsense c.2373 p.Y791* 0.001 superfamily_P-loop_NTPase pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 26 0 0.00 51 3 5.56 SCN4A 0 genome.wustl.edu 37 17 62018515 62018515 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 17 62018515 62018515 G T SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.5127 p.N1709K 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 tier1 - - 82 0 0.00 38 4 9.52 SDK1 0 genome.wustl.edu 37 7 4153892 4153892 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 4153892 4153892 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.3809 p.R1270Q 0.867 superfamily_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 - - 48 0 0.00 20 4 16.67 SEMA4G 0 genome.wustl.edu 37 10 102740951 102740951 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 102740951 102740951 G T SNP SEMA4G ENST00000210633 human ensembl 74_37 +1 known missense c.1670 p.R557I 0.998 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4G HGNC ENSG00000095539 17 0 0.00 46 3 6.12 SEMA6B 0 genome.wustl.edu 37 19 4550867 4550867 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 19 4550867 4550867 C A SNP SEMA6B ENST00000301293 human ensembl 74_37 -1 known missense c.1065 p.Q355H 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6B HGNC ENSG00000167680 tier1 - - 141 0 0.00 60 5 7.69 SERPINA1 0 genome.wustl.edu 37 14 94844865 94844865 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 14 94844865 94844865 G T SNP SERPINA1 ENST00000355814 human ensembl 74_37 -1 known missense c.1178 p.P393H 0.999 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA1 HGNC ENSG00000197249 tier1 - - 77 0 0.00 51 6 10.53 SERPINB5 0 genome.wustl.edu 37 18 61166491 61166491 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 18 61166491 61166491 G T SNP SERPINB5 ENST00000382771 human ensembl 74_37 +1 known missense c.706 p.V236L 0.141 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB5 HGNC ENSG00000206075 tier1 - - 33 0 0.00 34 4 10.53 SH3GLB1 0 genome.wustl.edu 37 1 87181419 87181419 + Nonsense_Mutation SNP A A T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 87181419 87181419 A T SNP SH3GLB1 ENST00000482504 human ensembl 74_37 +1 known nonsense c.85 p.K29* 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB1 HGNC ENSG00000097033 tier1 - - 17 0 0.00 35 8 18.60 SH3TC1 0 genome.wustl.edu 37 4 8237172 8237172 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 4 8237172 8237172 G T SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known missense c.3295 p.V1099L 0.995 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 tier1 - - 161 0 0.00 165 28 14.51 SIGLEC1 0 genome.wustl.edu 37 20 3672164 3672164 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 20 3672164 3672164 C A SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.4414 p.G1472W 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 tier1 - - 73 0 0.00 50 4 7.41 SLC10A4 0 genome.wustl.edu 37 4 48485912 48485912 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 4 48485912 48485912 G T SNP SLC10A4 ENST00000273861 human ensembl 74_37 +1 known missense c.334 p.A112S 1.000 pfam_BilAc/Na_symport pfam_BilAc/Na_symport - no_errors SLC10A4 HGNC ENSG00000145248 tier1 - - 65 0 0.00 45 4 8.16 SLC17A5 0 genome.wustl.edu 37 6 74304869 74304869 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 74304869 74304869 G T SNP SLC17A5 ENST00000355773 human ensembl 74_37 -1 known missense c.1419 p.F473L 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A5 HGNC ENSG00000119899 17 0 0.00 49 3 5.77 SLC22A12 0 genome.wustl.edu 37 11 64360946 64360946 + Silent SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 64360946 64360946 C T SNP SLC22A12 ENST00000377574 human ensembl 74_37 +1 known silent c.576 p.F192 0.095 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC ENSG00000197891 tier1 - - 59 0 0.00 10 38 79.17 SLC29A3 0 genome.wustl.edu 37 10 73082627 73082627 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 73082627 73082627 C T SNP SLC29A3 ENST00000373189 human ensembl 74_37 +1 known missense c.116 p.P39L 0.003 NULL pfam_Eqnu_transpt,prints_Eqnu_transpt - no_errors SLC29A3 HGNC ENSG00000198246 tier1 - - 70 0 0.00 48 4 7.69 SLC46A3 0 genome.wustl.edu 37 13 29278197 29278197 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 13 29278197 29278197 C A SNP SLC46A3 ENST00000266943 human ensembl 74_37 -1 known missense c.1184 p.G395V 0.188 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC ENSG00000139508 tier1 - - 34 0 0.00 68 5 6.85 SLC52A3 0 genome.wustl.edu 37 20 746258 746258 + Missense_Mutation SNP C C G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 20 746258 746258 C G SNP SLC52A3 ENST00000217254 human ensembl 74_37 -1 known missense c.161 p.G54A 0.997 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A3 HGNC ENSG00000101276 tier1 - - 73 0 0.00 44 10 18.52 SLC6A13 0 genome.wustl.edu 37 12 352972 352972 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 352972 352972 G T SNP SLC6A13 ENST00000343164 human ensembl 74_37 -1 known missense c.210 p.F70L 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2 - no_errors SLC6A13 HGNC ENSG00000010379 tier1 - - 32 0 0.00 65 4 5.80 SLC6A17 0 genome.wustl.edu 37 1 110740984 110740984 + Nonsense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 110740984 110740984 C A SNP SLC6A17 ENST00000331565 human ensembl 74_37 +1 known nonsense c.2102 p.S701* 0.251 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 59 0 0.00 17 2 10.53 SLC9C2 0 genome.wustl.edu 37 1 173499144 173499144 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 173499144 173499144 C T SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.2213 p.R738H 0.481 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 tier1 - - 15 0 0.00 16 35 68.63 SLIT1 0 genome.wustl.edu 37 10 98764553 98764553 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 98764553 98764553 G T SNP SLIT1 ENST00000266058 human ensembl 74_37 -1 known missense c.3607 p.L1203I 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT1 HGNC ENSG00000187122 tier1 - - 104 0 0.00 50 4 7.41 SMPDL3B 0 genome.wustl.edu 37 1 28282299 28282299 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 28282299 28282299 G T SNP SMPDL3B ENST00000373894 human ensembl 74_37 +1 known missense c.795 p.K265N 1.000 pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3B HGNC ENSG00000130768 tier1 - - 128 0 0.00 51 5 8.93 SNAPC4 0 genome.wustl.edu 37 9 139272097 139272097 + Silent SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 9 139272097 139272097 C T SNP SNAPC4 ENST00000298532 human ensembl 74_37 -1 known silent c.4182 p.S1394 0.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 tier1 - - 94 0 0.00 19 41 68.33 SNORD35B 0 genome.wustl.edu 37 19 50001060 50001060 + RNA SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 19 50001060 50001060 G T SNP SNORD35B ENST00000363660 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD35B HGNC ENSG00000200530 72 0 0.00 63 4 5.97 SNRNP25 0 genome.wustl.edu 37 16 105489 105489 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 16 105489 105489 G T SNP SNRNP25 ENST00000383018 human ensembl 74_37 +1 known missense c.100 p.A34S 1.000 NULL pfscan_Ubiquitin_supergroup - no_errors SNRNP25 HGNC ENSG00000161981 51 0 0.00 52 3 5.45 SON 0 genome.wustl.edu 37 21 34929491 34929491 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 21 34929491 34929491 G T SNP SON ENST00000356577 human ensembl 74_37 +1 known missense c.6190 p.A2064S 1.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 tier1 - - 32 0 0.00 57 4 6.56 SORCS1 0 genome.wustl.edu 37 10 108459130 108459130 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 108459130 108459130 C T SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.1255 p.D419N 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 40 0 0.00 37 32 46.38 SORCS1 0 genome.wustl.edu 37 10 108589380 108589380 + Silent SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 108589380 108589380 C T SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known silent c.678 p.L226 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 18 0 0.00 66 20 23.26 SORL1 0 genome.wustl.edu 37 11 121489490 121489490 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 121489490 121489490 G T SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.5612 p.G1871V 0.997 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 19 0 0.00 51 4 7.27 SPG11 0 genome.wustl.edu 37 15 44951296 44951296 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 15 44951296 44951296 C A SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known missense c.648 p.L216F 1.000 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 13 0 0.00 36 4 10.00 SPRYD4 0 genome.wustl.edu 37 12 56862930 56862930 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 56862930 56862930 G T SNP SPRYD4 ENST00000338146 human ensembl 74_37 +1 known missense c.193 p.A65S 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors SPRYD4 HGNC ENSG00000176422 60 0 0.00 12 3 20.00 SPTA1 0 genome.wustl.edu 37 1 158651365 158651365 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 158651365 158651365 C A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.483 p.Q161H 0.998 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 44 0 0.00 62 4 5.97 SPTA1 0 genome.wustl.edu 37 1 158604351 158604351 + Silent SNP A A G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 158604351 158604351 A G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.5547 p.D1849 0.983 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 20 0 0.00 36 4 10.00 SPTA1 0 genome.wustl.edu 37 1 158623151 158623151 + Missense_Mutation SNP A A G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 158623151 158623151 A G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.3101 p.L1034P 1.000 superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 40 0 0.00 37 4 9.76 SPTBN5 0 genome.wustl.edu 37 15 42168829 42168829 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 15 42168829 42168829 G T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.3868 p.Q1290K 0.446 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 tier1 - - 50 0 0.00 30 4 11.76 STAB1 0 genome.wustl.edu 37 3 52536690 52536690 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 52536690 52536690 G T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.530 p.G177V 0.591 smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 61 0 0.00 25 3 10.71 STIL 0 genome.wustl.edu 37 1 47717561 47717561 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 47717561 47717561 G T SNP STIL ENST00000371877 human ensembl 74_37 -1 known silent c.3114 p.I1038 1.000 NULL NULL - no_errors STIL HGNC ENSG00000123473 16 0 0.00 31 4 11.43 STYX 0 genome.wustl.edu 37 14 53224469 53224469 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 14 53224469 53224469 C T SNP STYX ENST00000354586 human ensembl 74_37 +1 known missense c.349 p.L117F 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors STYX HGNC ENSG00000198252 17 0 0.00 35 2 5.41 SVOPL 0 genome.wustl.edu 37 7 138363230 138363230 + Silent SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 138363230 138363230 G A SNP SVOPL ENST00000419765 human ensembl 74_37 -1 novel silent c.123 p.I41 0.785 superfamily_MFS_dom_general_subst_transpt pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SVOPL HGNC ENSG00000157703 tier1 - - 52 0 0.00 69 4 5.48 SYDE2 0 genome.wustl.edu 37 1 85648339 85648339 + Silent SNP A A G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 85648339 85648339 A G SNP SYDE2 ENST00000341460 human ensembl 74_37 -1 known silent c.1986 p.A662 0.995 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE2 HGNC ENSG00000097096 tier1 - - 12 0 0.00 9 10 52.63 TDP1 0 genome.wustl.edu 37 14 90450883 90450883 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 14 90450883 90450883 C A SNP TDP1 ENST00000335725 human ensembl 74_37 +1 known missense c.908 p.P303Q 1.000 pfam_Tyr-DNA_phospho pfam_Tyr-DNA_phospho - no_errors TDP1 HGNC ENSG00000042088 19 0 0.00 31 4 11.43 TECPR2 0 genome.wustl.edu 37 14 102931501 102931501 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 14 102931501 102931501 G T SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known missense c.3664 p.A1222S 0.890 superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 36 0 0.00 51 4 7.27 TECTA 0 genome.wustl.edu 37 11 121058567 121058567 + Missense_Mutation SNP T T C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 121058567 121058567 T C SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.6026 p.I2009T 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 28 0 0.00 45 13 22.41 TECTA 0 genome.wustl.edu 37 11 121032794 121032794 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 121032794 121032794 C A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.4987 p.P1663T 0.959 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 34 0 0.00 32 3 8.57 TEKT4 0 genome.wustl.edu 37 2 95542477 95542477 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 95542477 95542477 G A SNP TEKT4 ENST00000295201 human ensembl 74_37 +1 known missense c.1271 p.R424H 0.698 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 tier1 - - 216 0 0.00 81 23 22.12 TENM4 0 genome.wustl.edu 37 11 78383352 78383352 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 78383352 78383352 G T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.5519 p.S1840Y 0.999 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 84 0 0.00 65 4 5.71 TFEC 0 genome.wustl.edu 37 7 115590971 115590971 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 115590971 115590971 G T SNP TFEC ENST00000265440 human ensembl 74_37 -1 known silent c.472 p.R158 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFEC HGNC ENSG00000105967 26 0 0.00 76 4 5.00 TGIF2LX 0 genome.wustl.edu 37 X 89177777 89177777 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e X 89177777 89177777 G T SNP TGIF2LX ENST00000283891 human ensembl 74_37 +1 known silent c.693 p.L231 0.304 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LX HGNC ENSG00000153779 tier1 - - 51 0 0.00 36 4 10.00 TLK2 0 genome.wustl.edu 37 17 60637455 60637455 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 17 60637455 60637455 G T SNP TLK2 ENST00000326270 human ensembl 74_37 +1 known missense c.799 p.V267L 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TLK2 HGNC ENSG00000146872 tier1 - - 41 0 0.00 76 4 5.00 TMBIM4 0 genome.wustl.edu 37 12 66531936 66531937 + Frame_Shift_Ins INS - - A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 66531936 66531937 - A INS TMBIM4 ENST00000358230 human ensembl 74_37 -1 known frame_shift_ins c.521_520 p.Y174fs 0.856:0.028 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 tier1 25 0 0.00 35 7 16.67 TMEM168 0 genome.wustl.edu 37 7 112424213 112424213 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 112424213 112424213 G T SNP TMEM168 ENST00000312814 human ensembl 74_37 -1 known missense c.668 p.P223Q 1.000 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 21 0 0.00 36 4 10.00 TMEM249 0 genome.wustl.edu 37 8 145578386 145578386 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 145578386 145578386 G T SNP TMEM249 ENST00000398633 human ensembl 74_37 -1 known silent c.42 p.I14 0.000 NULL NULL - no_errors TMEM249 HGNC ENSG00000214597 tier1 - - 69 0 0.00 66 4 5.71 TMEM5 0 genome.wustl.edu 37 12 64196047 64196047 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 64196047 64196047 G T SNP TMEM5 ENST00000261234 human ensembl 74_37 +1 known missense c.605 p.G202V 1.000 NULL pfam_Exostosin - no_errors TMEM5 HGNC ENSG00000118600 24 0 0.00 64 4 5.88 TP53 0 genome.wustl.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 17 7578263 7578263 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.586 p.R196* 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 - - 126 0 0.00 15 35 70.00 TP63 0 genome.wustl.edu 37 3 189586371 189586371 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 189586371 189586371 G T SNP TP63 ENST00000264731 human ensembl 74_37 +1 known missense c.995 p.G332V 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 tier1 - - 79 0 0.00 53 4 7.02 TP63 0 genome.wustl.edu 37 3 189587178 189587178 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 189587178 189587178 G T SNP TP63 ENST00000264731 human ensembl 74_37 +1 known nonsense c.1195 p.E399* 1.000 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 20 0 0.00 52 4 7.14 TPD52L2 0 genome.wustl.edu 37 20 62518951 62518951 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 20 62518951 62518951 G T SNP TPD52L2 ENST00000217121 human ensembl 74_37 +1 known missense c.538 p.A180S 0.973 pfam_TPD52 pfam_TPD52 - no_errors TPD52L2 HGNC ENSG00000101150 32 0 0.00 33 2 5.71 TPTE2 0 genome.wustl.edu 37 13 20025336 20025336 + Silent SNP A A G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 13 20025336 20025336 A G SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known silent c.771 p.H257 0.040 pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 42 0 0.00 57 3 5.00 TRIM36 0 genome.wustl.edu 37 5 114473234 114473234 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 5 114473234 114473234 G T SNP TRIM36 ENST00000282369 human ensembl 74_37 -1 known missense c.947 p.S316Y 1.000 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM36 HGNC ENSG00000152503 11 0 0.00 38 2 5.00 TRIP10 0 genome.wustl.edu 37 19 6751165 6751165 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 19 6751165 6751165 G T SNP TRIP10 ENST00000596758 human ensembl 74_37 +1 known missense c.1610 p.G537V 1.000 NULL pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors TRIP10 HGNC ENSG00000125733 120 0 0.00 36 2 5.26 TRPC1 0 genome.wustl.edu 37 3 142511681 142511681 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 142511681 142511681 G T SNP TRPC1 ENST00000476941 human ensembl 74_37 +1 known missense c.1453 p.D485Y 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 15 0 0.00 42 3 6.67 TTC23L 0 genome.wustl.edu 37 5 34867123 34867123 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 5 34867123 34867123 G T SNP TTC23L ENST00000505624 human ensembl 74_37 +1 known missense c.789 p.Q263H 0.998 NULL NULL - no_errors TTC23L HGNC ENSG00000205838 39 0 0.00 31 2 6.06 TTF2 0 genome.wustl.edu 37 1 117634502 117634502 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 117634502 117634502 G T SNP TTF2 ENST00000369466 human ensembl 74_37 +1 known missense c.2735 p.S912I 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 34 0 0.00 45 4 8.16 TTLL5 0 genome.wustl.edu 37 14 76420882 76420882 + RNA DEL T T - TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 14 76420882 76420882 T - DEL TTLL5 ENST00000554972 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors TTLL5 HGNC ENSG00000119685 tier1 13 0 0.00 31 4 11.43 TTN 0 genome.wustl.edu 37 2 179465721 179465721 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 179465721 179465721 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.48206 p.R16069H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,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 - - 10 0 0.00 5 6 54.55 TTN 0 genome.wustl.edu 37 2 179439032 179439032 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 179439032 179439032 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.64123 p.L21375I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,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 17 0 0.00 37 4 9.76 TTN 0 genome.wustl.edu 37 2 179584290 179584290 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 179584290 179584290 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.20197 p.H6733N 0.973 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 16 0 0.00 36 2 5.26 TTN 0 genome.wustl.edu 37 2 179611618 179611618 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 179611618 179611618 G T SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.15509 p.P5170H 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 18 0 0.00 31 2 6.06 TUBA3C 0 genome.wustl.edu 37 13 19748175 19748175 + Missense_Mutation SNP T T G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 13 19748175 19748175 T G SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known missense c.1181 p.K394T 1.000 superfamily_Tub_FtsZ_C,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 tier1 - - 187 0 0.00 42 43 50.59 TXLNA 0 genome.wustl.edu 37 1 32660753 32660753 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 32660753 32660753 C T SNP TXLNA ENST00000373609 human ensembl 74_37 +1 known missense c.1598 p.S533L 0.287 NULL pfam_Taxilin_fam - no_errors TXLNA HGNC ENSG00000084652 77 0 0.00 33 2 5.71 UBAC2 0 genome.wustl.edu 37 13 99853785 99853785 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 13 99853785 99853785 G T SNP UBAC2 ENST00000376440 human ensembl 74_37 +1 known missense c.120 p.M40I 0.004 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC2 HGNC ENSG00000134882 tier1 - - 65 0 0.00 82 5 5.75 UBR4 0 genome.wustl.edu 37 1 19443867 19443867 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 19443867 19443867 G T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.10671 p.T3557 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 55 0 0.00 35 4 10.26 UCA1 0 genome.wustl.edu 37 19 15942106 15942106 + RNA SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 19 15942106 15942106 G A SNP UCA1 ENST00000397381 human ensembl 74_37 +1 known rna NULL NULL 0.085 - - - no_errors UCA1 HGNC ENSG00000214049 23 0 0.00 14 3 17.65 UNC79 0 genome.wustl.edu 37 14 94160683 94160683 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 14 94160683 94160683 G T SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.7656 p.M2552I 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 9 0 0.00 38 3 7.32 USP39 0 genome.wustl.edu 37 2 85846379 85846379 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 85846379 85846379 G T SNP USP39 ENST00000409470 human ensembl 74_37 +1 known missense c.305 p.S102I 1.000 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP39 HGNC ENSG00000168883 tier1 - - 40 0 0.00 46 4 8.00 USP7 0 genome.wustl.edu 37 16 8996332 8996332 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 16 8996332 8996332 G T SNP USP7 ENST00000344836 human ensembl 74_37 -1 known missense c.1847 p.P616Q 1.000 NULL pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 10 0 0.00 31 4 11.43 USP7 0 genome.wustl.edu 37 16 8997212 8997212 + Nonsense_Mutation SNP G G C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 16 8997212 8997212 G C SNP USP7 ENST00000344836 human ensembl 74_37 -1 known nonsense c.1752 p.Y584* 0.571 NULL pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 31 0 0.00 21 2 8.33 USP8 0 genome.wustl.edu 37 15 50733646 50733646 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 15 50733646 50733646 G T SNP USP8 ENST00000307179 human ensembl 74_37 +1 known missense c.205 p.V69F 1.000 pfam_USP8_dimer pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67 - no_errors USP8 HGNC ENSG00000138592 11 0 0.00 48 5 9.43 VARS 0 genome.wustl.edu 37 6 31760768 31760768 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 6 31760768 31760768 G T SNP VARS ENST00000375663 human ensembl 74_37 -1 known silent c.517 p.R173 1.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 97 0 0.00 48 3 5.88 VASH2 0 genome.wustl.edu 37 1 213161896 213161896 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 213161896 213161896 G T SNP VASH2 ENST00000517399 human ensembl 74_37 +1 known silent c.1038 p.L346 1.000 NULL NULL - no_errors VASH2 HGNC ENSG00000143494 23 0 0.00 43 4 8.51 VAV3 0 genome.wustl.edu 37 1 108185341 108185341 + Nonsense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 108185341 108185341 C A SNP VAV3 ENST00000525231 human ensembl 74_37 -1 known nonsense c.88 p.E30* 0.973 NULL NULL - no_errors VAV3 HGNC ENSG00000134215 tier1 - - 31 0 0.00 55 4 6.78 VBP1 0 genome.wustl.edu 37 X 154444770 154444770 + Missense_Mutation SNP T T C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e X 154444770 154444770 T C SNP VBP1 ENST00000286428 human ensembl 74_37 +1 known missense c.11 p.V4A 0.010 NULL pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,pirsf_Prefoldin_su-3 - no_errors VBP1 HGNC ENSG00000155959 tier1 - - 133 0 0.00 128 52 28.89 VIPR1 0 genome.wustl.edu 37 3 42567437 42567437 + Silent SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 42567437 42567437 G A SNP VIPR1 ENST00000325123 human ensembl 74_37 +1 known silent c.351 p.P117 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_VIP_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt - no_errors VIPR1 HGNC ENSG00000114812 tier1 - - 140 0 0.00 44 31 41.33 VPS13B 0 genome.wustl.edu 37 8 100791059 100791059 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 100791059 100791059 G A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.7654 p.A2552T 0.049 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 24 0 0.00 73 4 5.19 VPS33B 0 genome.wustl.edu 37 15 91561069 91561069 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 15 91561069 91561069 G T SNP VPS33B ENST00000333371 human ensembl 74_37 -1 known missense c.143 p.P48H 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33B HGNC ENSG00000184056 29 0 0.00 71 4 5.33 WASH3P 0 genome.wustl.edu 37 15 102506815 102506816 + RNA DEL CC CC - TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 15 102506815 102506816 CC 0 DEL WASH3P ENST00000559884 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors WASH3P HGNC ENSG00000185596 21 0 0.00 6 3 33.33 WDFY3 0 genome.wustl.edu 37 4 85715781 85715781 + Silent SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 4 85715781 85715781 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known silent c.3378 p.V1126 0.312 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 tier1 - - 16 0 0.00 67 13 16.25 WDR11 0 genome.wustl.edu 37 10 122630715 122630715 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 10 122630715 122630715 G T SNP WDR11 ENST00000263461 human ensembl 74_37 +1 known missense c.1328 p.R443I 0.003 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 29 0 0.00 57 3 5.00 WDR66 0 genome.wustl.edu 37 12 122396966 122396966 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 122396966 122396966 G T SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known missense c.2099 p.S700I 0.901 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_dom - no_errors WDR66 HGNC ENSG00000158023 26 0 0.00 58 4 6.45 WDR7 0 genome.wustl.edu 37 18 54346668 54346668 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 18 54346668 54346668 G T SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known nonsense c.265 p.G89* 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 24 0 0.00 39 3 6.98 XDH 0 genome.wustl.edu 37 2 31567580 31567580 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 31567580 31567580 G T SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.3374 p.T1125K 0.002 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 tier1 - - 67 0 0.00 56 4 6.67 XIRP2 0 genome.wustl.edu 37 2 168102105 168102105 + Silent SNP A A G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 168102105 168102105 A G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.4203 p.E1401 0.976 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 11 0 0.00 9 10 52.63 XIRP2 0 genome.wustl.edu 37 2 168104656 168104656 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 168104656 168104656 G T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.6754 p.D2252Y 0.998 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 18 0 0.00 32 4 11.11 XRRA1 0 genome.wustl.edu 37 11 74638455 74638455 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 11 74638455 74638455 C A SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known missense c.479 p.G160V 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 tier1 - - 50 0 0.00 85 5 5.56 YTHDF2 0 genome.wustl.edu 37 1 29070455 29070456 + Frame_Shift_Del DEL CA CA - TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 1 29070455 29070456 CA - DEL YTHDF2 ENST00000373812 human ensembl 74_37 +1 known frame_shift_del c.1673_1674 p.H559fs 1.000:1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF2 HGNC ENSG00000198492 tier1 25 0 0.00 34 13 27.66 ZBTB11 0 genome.wustl.edu 37 3 101371709 101371709 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 101371709 101371709 G T SNP ZBTB11 ENST00000312938 human ensembl 74_37 -1 known missense c.2383 p.Q795K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ENSG00000066422 22 0 0.00 71 4 5.33 ZC3H13 0 genome.wustl.edu 37 13 46543763 46543763 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 13 46543763 46543763 C A SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.2916 p.E972D 0.012 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 tier1 - - 13 0 0.00 16 21 56.76 ZCCHC14 0 genome.wustl.edu 37 16 87445847 87445847 + Missense_Mutation SNP C C T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 16 87445847 87445847 C T SNP ZCCHC14 ENST00000268616 human ensembl 74_37 -1 known missense c.2069 p.S690N 1.000 NULL pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC14 HGNC ENSG00000140948 tier1 - - 114 0 0.00 47 17 26.56 ZEB2 0 genome.wustl.edu 37 2 145147518 145147518 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 145147518 145147518 G T SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.3145 p.H1049N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 tier1 - - 31 0 0.00 28 4 12.50 ZIC4 0 genome.wustl.edu 37 3 147105323 147105323 + RNA DEL T T - TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 147105323 147105323 T - DEL ZIC4 ENST00000472749 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZIC4 HGNC ENSG00000174963 tier1 39 0 0.00 42 11 20.75 ZNF114 0 genome.wustl.edu 37 19 48785720 48785720 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 19 48785720 48785720 G T SNP ZNF114 ENST00000315849 human ensembl 74_37 +1 known silent c.102 p.V34 0.881 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF114 HGNC ENSG00000178150 tier1 - - 31 0 0.00 62 4 6.06 ZNF16 0 genome.wustl.edu 37 8 146156613 146156613 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 8 146156613 146156613 G T SNP ZNF16 ENST00000276816 human ensembl 74_37 -1 known missense c.1560 p.H520Q 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ENSG00000170631 62 0 0.00 37 2 5.13 ZNF230 0 genome.wustl.edu 37 19 44515108 44515108 + Missense_Mutation SNP A A T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 19 44515108 44515108 A T SNP ZNF230 ENST00000429154 human ensembl 74_37 +1 known missense c.917 p.K306I 0.992 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 ZNF230 HGNC ENSG00000159882 tier1 - - 21 0 0.00 52 8 13.33 ZNF384 0 genome.wustl.edu 37 12 6788181 6788181 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 12 6788181 6788181 G T SNP ZNF384 ENST00000361959 human ensembl 74_37 -1 known missense c.235 p.H79N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ENSG00000126746 tier1 - - 25 0 0.00 11 3 21.43 ZNF385B 0 genome.wustl.edu 37 2 180306744 180306745 + RNA INS - - A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 180306744 180306745 - A INS ZNF385B ENST00000466398 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors ZNF385B HGNC ENSG00000144331 tier1 29 0 0.00 54 19 26.03 ZNF385D 0 genome.wustl.edu 37 3 21467079 21467079 + Nonsense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 3 21467079 21467079 C A SNP ZNF385D ENST00000281523 human ensembl 74_37 -1 known nonsense c.757 p.G253* 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 18 0 0.00 42 3 6.67 ZNF425 0 genome.wustl.edu 37 7 148802515 148802515 + Nonsense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 148802515 148802515 C A SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known nonsense c.448 p.E150* 0.251 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 22 0 0.00 37 2 5.13 ZNF486 0 genome.wustl.edu 37 19 20296818 20296818 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 19 20296818 20296818 C A SNP ZNF486 ENST00000335117 human ensembl 74_37 +1 known missense c.180 p.D60E 0.103 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF486 HGNC ENSG00000256229 tier1 - - 54 0 0.00 49 4 7.55 ZNF646 0 genome.wustl.edu 37 16 31090991 31090991 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 16 31090991 31090991 G T SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known nonsense c.3346 p.E1116* 0.300 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 tier1 - - 68 0 0.00 28 4 12.50 ZNF680 0 genome.wustl.edu 37 7 64004109 64004109 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 64004109 64004109 G T SNP ZNF680 ENST00000309683 human ensembl 74_37 -1 known missense c.229 p.Q77K 0.011 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 ZNF680 HGNC ENSG00000173041 tier1 - - 30 0 0.00 56 44 43.56 ZNF721 0 genome.wustl.edu 37 4 466424 466424 + Missense_Mutation SNP C C A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 4 466424 466424 C A SNP ZNF721 ENST00000515578 human ensembl 74_37 -1 known missense c.70 p.A24S 0.007 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF721 HGNC ENSG00000182903 32 0 0.00 145 8 5.23 ZNF733P 0 genome.wustl.edu 37 7 62752115 62752115 + RNA SNP T T G TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 7 62752115 62752115 T G SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF733P HGNC ENSG00000185037 tier1 - - 35 0 0.00 55 17 23.61 ZNF765 0 genome.wustl.edu 37 19 53911118 53911118 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 19 53911118 53911118 G A SNP ZNF765 ENST00000396408 human ensembl 74_37 +1 known missense c.310 p.D104N 0.097 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 ZNF765 HGNC ENSG00000196417 tier1 - - 39 0 0.00 92 18 16.36 ZNF804A 0 genome.wustl.edu 37 2 185801785 185801785 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38de0714-1d64-46bd-bc57-3b953a13a4c1 d0f9ae1f-8474-44d5-bed1-101b2c86c33e 2 185801785 185801785 G T SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.1662 p.K554N 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 12 0 0.00 40 3 6.98