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 ABCA10 0 genome.wustl.edu 37 17 67178855 67178855 + Silent SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 17 67178855 67178855 G T SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known silent c.2592 p.P864 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 tier1 - - 44 0 0.00 46 4 8.00 ABCC8 0 genome.wustl.edu 37 11 17449846 17449846 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 17449846 17449846 C T SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.2030 p.C677Y 0.490 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 - - 35 0 0.00 50 4 7.41 ABHD17A 0 genome.wustl.edu 37 19 1880936 1880936 + Silent SNP T T C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 1880936 1880936 T C SNP ABHD17A ENST00000250974 human ensembl 74_37 -1 known silent c.444 p.T148 0.000 NULL pfam_Dienelactn_hydro - no_errors ABHD17A HGNC ENSG00000129968 115 0 0.00 61 4 6.15 ACADL 0 genome.wustl.edu 37 2 211085455 211085455 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 211085455 211085455 C T SNP ACADL ENST00000233710 human ensembl 74_37 -1 known missense c.149 p.R50Q 1.000 superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADL HGNC ENSG00000115361 tier1 - - 48 0 0.00 8 38 82.61 ADAMTS13 0 genome.wustl.edu 37 9 136290691 136290691 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 9 136290691 136290691 C T SNP ADAMTS13 ENST00000371929 human ensembl 74_37 +1 known missense c.373 p.R125W 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 tier1 - - 43 0 0.00 27 31 53.45 ADAMTS2 0 genome.wustl.edu 37 5 178579173 178579173 + Frame_Shift_Del DEL G G - TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 5 178579173 178579173 G - DEL ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known frame_shift_del c.1599 p.L534fs 0.009 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 tier1 64 0 0.00 37 2 5.13 AHNAK2 0 genome.wustl.edu 37 14 105409712 105409712 + Missense_Mutation SNP C C G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 14 105409712 105409712 C G SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.12076 p.E4026Q 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 149 0 0.00 58 43 42.57 AKNA 0 genome.wustl.edu 37 9 117129824 117129824 + Missense_Mutation SNP T T A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 9 117129824 117129824 T A SNP AKNA ENST00000307564 human ensembl 74_37 -1 known missense c.1727 p.K576M 1.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 tier1 - - 44 0 0.00 23 3 11.54 ANAPC2 0 genome.wustl.edu 37 9 140074823 140074823 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 9 140074823 140074823 G A SNP ANAPC2 ENST00000323927 human ensembl 74_37 -1 known missense c.1700 p.S567F 0.998 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology - no_errors ANAPC2 HGNC ENSG00000176248 tier1 - - 69 0 0.00 62 11 15.07 ANK3 0 genome.wustl.edu 37 10 61835810 61835810 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 10 61835810 61835810 G T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.4829 p.P1610H 0.997 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 55 0 0.00 52 4 7.14 ANKRD6 0 genome.wustl.edu 37 6 90334314 90334314 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 6 90334314 90334314 G T SNP ANKRD6 ENST00000339746 human ensembl 74_37 +1 known missense c.1275 p.L425F 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD6 HGNC ENSG00000135299 87 0 0.00 66 4 5.71 AP5Z1 0 genome.wustl.edu 37 7 4824612 4824612 + Silent SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 7 4824612 4824612 G A SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known silent c.864 p.P288 0.997 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 tier1 - - 67 0 0.00 57 28 32.18 APOC3 0 genome.wustl.edu 37 11 116703493 116703493 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 116703493 116703493 G A SNP APOC3 ENST00000227667 human ensembl 74_37 +1 known missense c.193 p.D65N 0.000 pfam_Apo-CIII pfam_Apo-CIII - no_errors APOC3 HGNC ENSG00000110245 tier1 rs149707394 - 97 0 0.00 67 24 26.37 AQP7 0 genome.wustl.edu 37 9 33386447 33386447 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 9 33386447 33386447 G T SNP AQP7 ENST00000297988 human ensembl 74_37 -1 known missense c.361 p.L121M 0.999 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP7 HGNC ENSG00000165269 tier1 - - 237 0 0.00 167 22 11.64 ARFGAP2 0 genome.wustl.edu 37 11 47189519 47189519 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 47189519 47189519 G T SNP ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known missense c.1146 p.D382E 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 tier1 - - 72 0 0.00 43 4 8.51 ARHGEF15 0 genome.wustl.edu 37 17 8221919 8221919 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 17 8221919 8221919 G A SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known missense c.1811 p.R604H 1.000 superfamily_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 51 0 0.00 23 2 8.00 ARSI 0 genome.wustl.edu 37 5 149676934 149676934 + Frame_Shift_Del DEL C C - TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 5 149676934 149676934 C 0 DEL ARSI ENST00000328668 human ensembl 74_37 -1 known frame_shift_del c.1553 p.G518fs 1.000 superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSI HGNC ENSG00000183876 38 0 0.00 28 10 26.32 ATAT1 0 genome.wustl.edu 37 6 30594688 30594688 + Missense_Mutation SNP C C A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 6 30594688 30594688 C A SNP ATAT1 ENST00000376485 human ensembl 74_37 +1 known missense c.26 p.A9E 0.998 NULL pfam_Alpha-TAT,superfamily_Acyl_CoA_acyltransferase - no_errors ATAT1 HGNC ENSG00000137343 tier1 - - 123 0 0.00 79 24 23.08 ATM 0 genome.wustl.edu 37 11 108137916 108137916 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 108137916 108137916 C T SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.2485 p.P829S 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 tier1 - - 50 0 0.00 63 4 5.97 ATN1 0 genome.wustl.edu 37 12 7044758 7044758 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 12 7044758 7044758 G A SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known missense c.328 p.G110R 1.000 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 tier1 - - 82 0 0.00 55 14 20.29 BDH2 0 genome.wustl.edu 37 4 104000908 104000908 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 4 104000908 104000908 G A SNP BDH2 ENST00000296424 human ensembl 74_37 -1 known missense c.689 p.A230V 1.000 prints_DHB_DH pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect - no_errors BDH2 HGNC ENSG00000164039 65 0 0.00 35 2 5.41 BPIFA1 0 genome.wustl.edu 37 20 31825905 31825905 + Missense_Mutation SNP G G C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 20 31825905 31825905 G C SNP BPIFA1 ENST00000354297 human ensembl 74_37 +1 known missense c.205 p.E69Q 0.001 pfam_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA1 HGNC ENSG00000198183 tier1 - - 57 0 0.00 58 28 32.56 BRD4 0 genome.wustl.edu 37 19 15375435 15375435 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 15375435 15375435 G T SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known missense c.992 p.P331Q 1.000 superfamily_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 80 0 0.00 36 2 5.26 C16orf78 0 genome.wustl.edu 37 16 49407973 49407973 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 16 49407973 49407973 G T SNP C16orf78 ENST00000299191 human ensembl 74_37 +1 known missense c.123 p.R41S 0.985 NULL NULL - no_errors C16orf78 HGNC ENSG00000166152 63 0 0.00 55 3 5.17 C16orf89 0 genome.wustl.edu 37 16 5105319 5105319 + Missense_Mutation SNP A A C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 16 5105319 5105319 A C SNP C16orf89 ENST00000350219 human ensembl 74_37 -1 known missense c.910 p.F304V 1.000 NULL NULL - no_errors C16orf89 HGNC ENSG00000153446 tier1 - - 63 0 0.00 42 16 27.59 C21orf58 0 genome.wustl.edu 37 21 47721986 47721988 + In_Frame_Del DEL TGG TGG - TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 TGG TGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 21 47721986 47721988 TGG - DEL C21orf58 ENST00000291691 human ensembl 74_37 -1 known in_frame_del c.896_894 p.H299in_frame_del 0.001:0.001:0.001 NULL NULL - no_errors C21orf58 HGNC ENSG00000160298 tier1 36 0 0.00 33 2 5.71 C2orf68 0 genome.wustl.edu 37 2 85838932 85838932 + Nonstop_Mutation SNP C C A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 85838932 85838932 C A SNP C2orf68 ENST00000423181 human ensembl 74_37 -1 known nonstop c.176 p.*59L 1.000 NULL pfam_UPF0561 - no_errors C2orf68 HGNC ENSG00000168887 tier1 - - 39 0 0.00 41 18 30.51 C6orf211 0 genome.wustl.edu 37 6 151773812 151773812 + RNA SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 6 151773812 151773812 G A SNP C6orf211 ENST00000483931 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C6orf211 HGNC ENSG00000146476 tier1 - - 87 0 0.00 68 4 5.56 CAB39 0 genome.wustl.edu 37 2 231657972 231657972 + Silent SNP A A G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 231657972 231657972 A G SNP CAB39 ENST00000258418 human ensembl 74_37 +1 known silent c.324 p.R108 1.000 pfam_Mo25,superfamily_ARM-type_fold pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39 HGNC ENSG00000135932 tier1 - - 57 0 0.00 52 15 22.39 CACNA1A 0 genome.wustl.edu 37 19 13616887 13616887 + Nonsense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 13616887 13616887 G T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known nonsense c.152 p.S51* 0.996 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 44 0 0.00 31 2 6.06 CAMK1D 0 genome.wustl.edu 37 10 12391792 12391792 + RNA SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 10 12391792 12391792 G A SNP CAMK1D ENST00000487696 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CAMK1D HGNC ENSG00000183049 tier1 - - 61 0 0.00 21 31 59.62 CCDC115 0 genome.wustl.edu 37 2 131097207 131097207 + Missense_Mutation SNP C C G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 131097207 131097207 C G SNP CCDC115 ENST00000442217 human ensembl 74_37 -1 known missense c.559 p.E187Q 0.001 NULL NULL - no_errors CCDC115 HGNC ENSG00000136710 tier1 - - 31 0 0.00 16 23 58.97 CCDC132 0 genome.wustl.edu 37 7 92970741 92970741 + Missense_Mutation SNP A A C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 7 92970741 92970741 A C SNP CCDC132 ENST00000305866 human ensembl 74_37 +1 known missense c.2061 p.E687D 1.000 NULL pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC ENSG00000004766 tier1 - - 68 0 0.00 62 13 17.33 CCDC147 0 genome.wustl.edu 37 10 106139896 106139896 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 10 106139896 106139896 C T SNP CCDC147 ENST00000369704 human ensembl 74_37 +1 known missense c.1283 p.A428V 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 57 0 0.00 73 4 5.13 CCDC74A 0 genome.wustl.edu 37 2 132290352 132290352 + Missense_Mutation SNP G G C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 132290352 132290352 G C SNP CCDC74A ENST00000295171 human ensembl 74_37 +1 known missense c.874 p.E292Q 1.000 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 tier1 - - 125 0 0.00 87 53 37.86 CD96 0 genome.wustl.edu 37 3 111298030 111298031 + Frame_Shift_Del DEL AG AG - TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 3 111298030 111298031 AG - DEL CD96 ENST00000283285 human ensembl 74_37 +1 known frame_shift_del c.748_749 p.R250fs 0.000:0.000 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD96 HGNC ENSG00000153283 tier1 89 0 0.00 77 36 31.86 CDK11B 0 genome.wustl.edu 37 1 1581180 1581180 + Missense_Mutation SNP G G C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 1581180 1581180 G C SNP CDK11B ENST00000407249 human ensembl 74_37 -1 known missense c.344 p.T115R 0.028 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 - - 364 0 0.00 284 43 13.15 CDK13 0 genome.wustl.edu 37 7 40027419 40027419 + Missense_Mutation SNP A A C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 7 40027419 40027419 A C SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known missense c.1433 p.K478T 0.989 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK13 HGNC ENSG00000065883 tier1 - - 27 0 0.00 20 12 37.50 CDKN2A 0 genome.wustl.edu 37 9 21974766 21974766 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 9 21974766 21974766 C T SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known missense c.61 p.A21T 0.925 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 45 0 0.00 17 2 10.53 CHRM1 0 genome.wustl.edu 37 11 62677888 62677888 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 62677888 62677888 C T SNP CHRM1 ENST00000306960 human ensembl 74_37 -1 known missense c.685 p.E229K 0.966 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M1_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM1 HGNC ENSG00000168539 tier1 - - 36 0 0.00 16 18 52.94 CLMN 0 genome.wustl.edu 37 14 95669921 95669921 + Missense_Mutation SNP T T C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 14 95669921 95669921 T C SNP CLMN ENST00000298912 human ensembl 74_37 -1 known missense c.1765 p.T589A 0.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 97 0 0.00 58 4 6.45 CLYBL 0 genome.wustl.edu 37 13 100511232 100511232 + Missense_Mutation SNP C C G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 13 100511232 100511232 C G SNP CLYBL ENST00000339105 human ensembl 74_37 +1 known missense c.367 p.L123V 0.964 pfam_Aldehyde-lyase_domain,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,pirsf_Citrate_lyase_beta pfam_Aldehyde-lyase_domain,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,pirsf_Citrate_lyase_beta - no_errors CLYBL HGNC ENSG00000125246 tier1 - - 95 0 0.00 17 41 70.69 CNKSR2 0 genome.wustl.edu 37 X 21534649 21534649 + Missense_Mutation SNP C C G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 X 21534649 21534649 C G SNP CNKSR2 ENST00000379510 human ensembl 74_37 +1 known missense c.857 p.P286R 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 tier1 - - 75 0 0.00 15 57 79.17 COL9A1 0 genome.wustl.edu 37 6 70970365 70970365 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 6 70970365 70970365 C T SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known missense c.1444 p.E482K 0.981 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 tier1 - - 86 0 0.00 49 26 34.21 COQ10B 0 genome.wustl.edu 37 2 198318574 198318574 + RNA SNP C C G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 198318574 198318574 C G SNP COQ10B ENST00000488445 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors COQ10B HGNC ENSG00000115520 tier1 - - 68 0 0.00 40 14 25.93 CPNE4 0 genome.wustl.edu 37 3 131253640 131253640 + RNA SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 3 131253640 131253640 G T SNP CPNE4 ENST00000503204 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CPNE4 HGNC ENSG00000196353 tier1 - - 73 0 0.00 58 4 6.45 CSF2RA 0 genome.wustl.edu 37 X 1407924 1407924 + RNA SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 X 1407924 1407924 G A SNP CSF2RA ENST00000478256 human ensembl 74_37 +1 putative rna NULL NULL 0.005 - - - no_errors CSF2RA HGNC ENSG00000198223 tier1 - - 8 0 0.00 8 5 38.46 CTDSPL2 0 genome.wustl.edu 37 15 44751267 44751267 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 15 44751267 44751267 C T SNP CTDSPL2 ENST00000260327 human ensembl 74_37 +1 known missense c.55 p.R19C 1.000 NULL pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSPL2 HGNC ENSG00000137770 tier1 - - 60 0 0.00 65 15 18.75 CXCR2 0 genome.wustl.edu 37 2 219000352 219000352 + Silent SNP C C A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 219000352 219000352 C A SNP CXCR2 ENST00000318507 human ensembl 74_37 +1 known silent c.828 p.L276 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR2 HGNC ENSG00000180871 tier1 - - 32 0 0.00 62 11 15.07 DACT3 0 genome.wustl.edu 37 19 47152183 47152183 + Silent SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 47152183 47152183 G A SNP DACT3 ENST00000391916 human ensembl 74_37 -1 known silent c.1446 p.I482 1.000 NULL NULL - no_errors DACT3 HGNC ENSG00000197380 tier1 - - 9 0 0.00 0 5 100.00 DMXL1 0 genome.wustl.edu 37 5 118482976 118482976 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 5 118482976 118482976 G A SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known missense c.2722 p.V908I 0.757 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 tier1 - - 79 0 0.00 34 12 26.09 DNAH1 0 genome.wustl.edu 37 3 52428676 52428676 + Silent SNP C C A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 3 52428676 52428676 C A SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known silent c.10822 p.R3608 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 62 0 0.00 34 2 5.56 DNAH2 0 genome.wustl.edu 37 17 7643207 7643207 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 17 7643207 7643207 G T SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.1327 p.G443W 0.823 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 42 0 0.00 30 3 8.82 DOK5 0 genome.wustl.edu 37 20 53205284 53205284 + Silent SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 20 53205284 53205284 C T SNP DOK5 ENST00000262593 human ensembl 74_37 +1 known silent c.348 p.I116 1.000 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK5 HGNC ENSG00000101134 tier1 - - 77 0 0.00 50 43 46.24 DST 0 genome.wustl.edu 37 6 56374518 56374518 + Silent SNP A A G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 6 56374518 56374518 A G SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.18841 p.L6281 0.050 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 58 0 0.00 39 16 29.09 EFNA2 0 genome.wustl.edu 37 19 1295853 1295853 + Silent SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 1295853 1295853 C T SNP EFNA2 ENST00000215368 human ensembl 74_37 +1 known silent c.450 p.Y150 1.000 pfam_Ephrin,superfamily_Cupredoxin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA2 HGNC ENSG00000099617 tier1 - - 51 0 0.00 43 4 8.51 ENSG00000232600 0 genome.wustl.edu 37 8 145662361 145662361 + RNA DEL C C - TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 8 145662361 145662361 C - DEL ENSG00000232600 ENST00000544423 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC084125.4 Clone_based_vega_gene ENSG00000232600 tier1 68 0 0.00 98 15 13.27 ENSG00000255366 0 genome.wustl.edu 37 8 48104491 48104491 + RNA SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 8 48104491 48104491 G T SNP ENSG00000255366 ENST00000528139 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-1134I14.8 Clone_based_vega_gene ENSG00000255366 27 0 0.00 17 4 19.05 ENSG00000267688 0 genome.wustl.edu 37 19 3122087 3122087 + RNA SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 3122087 3122087 G A SNP ENSG00000267688 ENST00000585980 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005262.2 Clone_based_vega_gene ENSG00000267688 tier1 - - 57 0 0.00 33 4 10.53 EPHA2 0 genome.wustl.edu 37 1 16464434 16464434 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 16464434 16464434 G T SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known missense c.1226 p.T409N 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 tier1 - - 75 0 0.00 66 4 5.71 ESPNL 0 genome.wustl.edu 37 2 239025586 239025586 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 239025586 239025586 C T SNP ESPNL ENST00000343063 human ensembl 74_37 +1 known missense c.898 p.R300W 0.600 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ESPNL HGNC ENSG00000144488 68 0 0.00 52 3 5.45 ESYT3 0 genome.wustl.edu 37 3 138178065 138178065 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 3 138178065 138178065 G T SNP ESYT3 ENST00000389567 human ensembl 74_37 +1 known missense c.618 p.Q206H 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 tier1 - - 58 0 0.00 43 4 8.51 EXD3 0 genome.wustl.edu 37 9 140287583 140287583 + Frame_Shift_Del DEL G G - TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 9 140287583 140287583 G 0 DEL EXD3 ENST00000465160 human ensembl 74_37 -1 putative frame_shift_del c.160 p.L54fs 0.996 NULL NULL - no_errors EXD3 HGNC ENSG00000187609 44 0 0.00 35 8 18.60 FAM120A 0 genome.wustl.edu 37 9 96278385 96278385 + Missense_Mutation SNP T T C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 9 96278385 96278385 T C SNP FAM120A ENST00000333936 human ensembl 74_37 +1 known missense c.1252 p.Y418H 1.000 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 tier1 rs138573585 - 54 0 0.00 29 4 12.12 FAM171A1 0 genome.wustl.edu 37 10 15255663 15255663 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 10 15255663 15255663 C T SNP FAM171A1 ENST00000378116 human ensembl 74_37 -1 known missense c.1924 p.A642T 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 59 0 0.00 31 2 6.06 FAM178B 0 genome.wustl.edu 37 2 97595017 97595017 + Silent SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 97595017 97595017 G T SNP FAM178B ENST00000417561 human ensembl 74_37 -1 known silent c.1563 p.V521 0.359 NULL NULL - no_errors FAM178B HGNC ENSG00000168754 76 0 0.00 63 4 5.97 FAM188B 0 genome.wustl.edu 37 7 30893033 30893033 + Silent SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 7 30893033 30893033 C T SNP FAM188B ENST00000265299 human ensembl 74_37 +1 known silent c.1635 p.C545 0.996 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 49 0 0.00 71 4 5.33 FAM86C2P 0 genome.wustl.edu 37 11 67560294 67560294 + RNA SNP A A G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 67560294 67560294 A G SNP FAM86C2P ENST00000528089 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors FAM86C2P HGNC ENSG00000160172 26 0 0.00 37 4 9.76 FBXW7 0 genome.wustl.edu 37 4 153332739 153332739 + Nonsense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 4 153332739 153332739 G A SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known nonsense c.217 p.Q73* 1.000 NULL pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 tier1 - - 68 0 0.00 15 38 71.70 FMOD 0 genome.wustl.edu 37 1 203316579 203316579 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 203316579 203316579 G A SNP FMOD ENST00000354955 human ensembl 74_37 -1 known missense c.820 p.R274W 0.996 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors FMOD HGNC ENSG00000122176 tier1 rs200924838 - 62 0 0.00 47 4 7.84 FOLR3 0 genome.wustl.edu 37 11 71847080 71847080 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 71847080 71847080 C T SNP FOLR3 ENST00000456237 human ensembl 74_37 +1 known missense c.82 p.R28W 0.000 NULL pfam_Folate_rcpt-like - no_errors FOLR3 HGNC ENSG00000110203 tier1 - - 50 0 0.00 47 10 17.54 FOXP2 0 genome.wustl.edu 37 7 114271582 114271582 + Splice_Site SNP G G C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 7 114271582 114271582 G C SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known splice_site c.673-1 e6-1 0.135 - - - no_errors FOXP2 HGNC ENSG00000128573 40 0 0.00 29 2 6.45 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74819805 74819805 + Missense_Mutation SNP A A G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 74819805 74819805 A G SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.1511 p.Y504C 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 tier1 - - 44 0 0.00 34 11 24.44 FREM2 0 genome.wustl.edu 37 13 39264040 39264040 + Silent SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 13 39264040 39264040 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known silent c.2559 p.H853 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 50 0 0.00 22 12 35.29 FREM3 0 genome.wustl.edu 37 4 144617840 144617840 + Missense_Mutation SNP A A C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 4 144617840 144617840 A C SNP FREM3 ENST00000329798 human ensembl 74_37 -1 putative missense c.3989 p.L1330R 0.985 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 tier1 - - 74 0 0.00 30 12 28.57 FUK 0 genome.wustl.edu 37 16 70501800 70501800 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 16 70501800 70501800 G T SNP FUK ENST00000378912 human ensembl 74_37 +1 known missense c.690 p.L230F 0.975 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 - - 100 0 0.00 46 4 8.00 FYB 0 genome.wustl.edu 37 5 39202766 39202766 + Silent SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 5 39202766 39202766 G T SNP FYB ENST00000540520 human ensembl 74_37 -1 known silent c.327 p.T109 0.000 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 tier1 - - 85 0 0.00 60 4 6.25 GEMIN4 0 genome.wustl.edu 37 17 650493 650493 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 17 650493 650493 C T SNP GEMIN4 ENST00000319004 human ensembl 74_37 -1 known missense c.790 p.V264M 0.000 NULL NULL - no_errors GEMIN4 HGNC ENSG00000179409 34 0 0.00 16 3 15.79 GFM1 0 genome.wustl.edu 37 3 158408049 158408049 + Silent SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 3 158408049 158408049 C T SNP GFM1 ENST00000486715 human ensembl 74_37 +1 known silent c.2007 p.N669 1.000 pfam_EFG_V,superfamily_EFG_III-V,smart_EFG_V,tigrfam_Transl_elong_EFG/EF2 pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 97 0 0.00 72 4 5.26 GGN 0 genome.wustl.edu 37 19 38877720 38877720 + Missense_Mutation SNP A A G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 38877720 38877720 A G SNP GGN ENST00000334928 human ensembl 74_37 -1 known missense c.182 p.M61T 0.935 NULL NULL - no_errors GGN HGNC ENSG00000179168 tier1 - - 77 0 0.00 64 30 31.58 GGT7 0 genome.wustl.edu 37 20 33440292 33440292 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 20 33440292 33440292 C T SNP GGT7 ENST00000336431 human ensembl 74_37 -1 novel missense c.1369 p.A457T 0.104 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT7 HGNC ENSG00000131067 tier1 - - 66 0 0.00 70 13 15.66 GJD2 0 genome.wustl.edu 37 15 35045307 35045307 + Missense_Mutation SNP A A G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 15 35045307 35045307 A G SNP GJD2 ENST00000290374 human ensembl 74_37 -1 known missense c.338 p.F113S 1.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC ENSG00000159248 tier1 - - 61 0 0.00 41 31 43.06 GPR112 0 genome.wustl.edu 37 X 135430821 135430821 + Silent SNP T T G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 X 135430821 135430821 T G SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known silent c.4956 p.T1652 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 tier1 - - 19 0 0.00 14 10 41.67 GPR112 0 genome.wustl.edu 37 X 135445724 135445724 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 X 135445724 135445724 G T SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.7366 p.V2456L 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 tier1 - - 30 0 0.00 28 4 12.50 GRAMD1C 0 genome.wustl.edu 37 3 113619948 113619948 + Missense_Mutation SNP A A T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 3 113619948 113619948 A T SNP GRAMD1C ENST00000358160 human ensembl 74_37 +1 known missense c.611 p.E204V 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1C HGNC ENSG00000178075 tier1 - - 58 0 0.00 47 16 25.40 GRIN3B 0 genome.wustl.edu 37 19 1005120 1005120 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 1005120 1005120 G T SNP GRIN3B ENST00000234389 human ensembl 74_37 +1 known missense c.1620 p.Q540H 0.660 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC ENSG00000116032 49 0 0.00 33 2 5.71 GRM8 0 genome.wustl.edu 37 7 126173499 126173499 + Missense_Mutation SNP A A T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 7 126173499 126173499 A T SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.1937 p.I646N 0.995 pfam_GPCR_3_C,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 tier1 - - 46 0 0.00 13 18 58.06 GYG2P1 0 genome.wustl.edu 37 Y 14495005 14495005 + RNA SNP C C G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 Y 14495005 14495005 C G SNP GYG2P1 ENST00000493160 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors GYG2P1 HGNC ENSG00000206159 tier1 - - 22 0 0.00 27 4 12.90 HACE1 0 genome.wustl.edu 37 6 105177430 105177430 + RNA SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 6 105177430 105177430 C T SNP HACE1 ENST00000517995 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors HACE1 HGNC ENSG00000085382 tier1 - - 13 0 0.00 6 7 53.85 HAL 0 genome.wustl.edu 37 12 96379931 96379931 + Silent SNP A A G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 12 96379931 96379931 A G SNP HAL ENST00000261208 human ensembl 74_37 -1 known silent c.1059 p.H353 0.994 pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH - no_errors HAL HGNC ENSG00000084110 tier1 - - 43 0 0.00 32 17 34.69 HCN2 0 genome.wustl.edu 37 19 603569 603569 + Missense_Mutation SNP C C A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 603569 603569 C A SNP HCN2 ENST00000251287 human ensembl 74_37 +1 known missense c.658 p.L220M 1.000 pfam_Ion_trans_N pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC ENSG00000099822 47 0 0.00 26 2 7.14 HERPUD1 0 genome.wustl.edu 37 16 56973168 56973168 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 16 56973168 56973168 G A SNP HERPUD1 ENST00000439977 human ensembl 74_37 +1 known missense c.451 p.A151T 0.959 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors HERPUD1 HGNC ENSG00000051108 tier1 - - 93 0 0.00 59 4 6.35 HK1 0 genome.wustl.edu 37 10 71148995 71148995 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 10 71148995 71148995 G T SNP HK1 ENST00000448642 human ensembl 74_37 +1 known missense c.2083 p.G695C 1.000 pfam_Hexokinase_N,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 tier1 - - 70 0 0.00 57 4 6.56 HLA-DPA1 0 genome.wustl.edu 37 6 33037071 33037071 + Missense_Mutation SNP G G C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 6 33037071 33037071 G C SNP HLA-DPA1 ENST00000419277 human ensembl 74_37 -1 known missense c.353 p.P118R 0.997 pfscan_Ig-like_dom pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DPA1 HGNC ENSG00000231389 tier1 - - 54 0 0.00 32 11 25.58 HNF4A 0 genome.wustl.edu 37 20 43030116 43030116 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 20 43030116 43030116 C T SNP HNF4A ENST00000316099 human ensembl 74_37 +1 known missense c.104 p.T35M 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC ENSG00000101076 59 0 0.00 53 3 5.36 HPS3 0 genome.wustl.edu 37 3 148877872 148877872 + Nonsense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 3 148877872 148877872 G T SNP HPS3 ENST00000296051 human ensembl 74_37 +1 known nonsense c.1912 p.E638* 1.000 pirsf_HPS3 pirsf_HPS3 - no_errors HPS3 HGNC ENSG00000163755 tier1 - - 80 0 0.00 52 4 7.14 HRC 0 genome.wustl.edu 37 19 49657890 49657892 + In_Frame_Del DEL TCC TCC - TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 49657890 49657892 TCC - DEL HRC ENST00000252825 human ensembl 74_37 -1 known in_frame_del c.605_603 p.E204in_frame_del 0.004:0.016:0.003 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 tier1 36 0 0.00 32 3 8.57 HTR3B 0 genome.wustl.edu 37 11 113803807 113803807 + Nonsense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 113803807 113803807 C T SNP HTR3B ENST00000260191 human ensembl 74_37 +1 known nonsense c.688 p.Q230* 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_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel - no_errors HTR3B HGNC ENSG00000149305 tier1 - - 75 0 0.00 58 16 21.62 ID1 0 genome.wustl.edu 37 20 30193543 30193543 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 20 30193543 30193543 C T SNP ID1 ENST00000376112 human ensembl 74_37 +1 known missense c.353 p.P118L 1.000 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ID1 HGNC ENSG00000125968 tier1 rs200577120 - 47 0 0.00 30 29 49.15 IGSF10 0 genome.wustl.edu 37 3 151155705 151155705 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 3 151155705 151155705 G A SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.6644 p.A2215V 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 68 0 0.00 52 3 5.45 IL27RA 0 genome.wustl.edu 37 19 14160008 14160008 + Silent SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 14160008 14160008 C T SNP IL27RA ENST00000263379 human ensembl 74_37 +1 known silent c.1284 p.A428 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL27RA HGNC ENSG00000104998 tier1 - - 62 0 0.00 28 10 26.32 INTS1 0 genome.wustl.edu 37 7 1536943 1536943 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 7 1536943 1536943 G A SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known missense c.1817 p.A606V 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 tier1 - - 25 0 0.00 26 12 31.58 ITGA4 0 genome.wustl.edu 37 2 182363438 182363438 + Silent SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 182363438 182363438 G T SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known silent c.1629 p.V543 0.367 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 tier1 - - 52 0 0.00 63 4 5.97 ITM2B 0 genome.wustl.edu 37 13 48807528 48807528 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 13 48807528 48807528 C T SNP ITM2B ENST00000378565 human ensembl 74_37 +1 known missense c.32 p.A11V 1.000 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors ITM2B HGNC ENSG00000136156 tier1 - - 70 0 0.00 43 4 8.51 ITPR2 0 genome.wustl.edu 37 12 26750058 26750058 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 12 26750058 26750058 C T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.4012 p.G1338R 0.996 pfam_Ca-rel_channel,superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 59 0 0.00 36 2 5.26 IVL 0 genome.wustl.edu 37 1 152882812 152882812 + Missense_Mutation SNP A A G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 152882812 152882812 A G SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.539 p.E180G 0.003 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 tier1 - - 118 0 0.00 86 33 27.73 KAT6B 0 genome.wustl.edu 37 10 76735386 76735386 + Missense_Mutation SNP A A C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 10 76735386 76735386 A C SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known missense c.1291 p.T431P 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 tier1 - - 77 0 0.00 57 16 21.92 KCNA5 0 genome.wustl.edu 37 12 5153505 5153505 + Silent SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 12 5153505 5153505 G A SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known silent c.192 p.V64 0.000 prints_K_chnl_volt-dep_Kv1.5 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 tier1 - - 30 0 0.00 13 11 45.83 KCND2 0 genome.wustl.edu 37 7 119915600 119915600 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 7 119915600 119915600 G T SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.914 p.R305L 1.000 pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 56 0 0.00 41 3 6.67 KCNT2 0 genome.wustl.edu 37 1 196459055 196459055 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 196459055 196459055 C T SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.188 p.R63H 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 35 0 0.00 34 2 5.41 KDM2A 0 genome.wustl.edu 37 11 67024132 67024132 + RNA SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 67024132 67024132 C T SNP KDM2A ENST00000524657 human ensembl 74_37 +1 known rna NULL NULL 0.737 - - - no_errors KDM2A HGNC ENSG00000173120 tier1 - - 52 0 0.00 36 16 30.77 KDM4C 0 genome.wustl.edu 37 9 6805609 6805609 + Missense_Mutation SNP C C A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 9 6805609 6805609 C A SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known missense c.155 p.P52H 1.000 smart_TF_JmjN,pfscan_TF_JmjN pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 28 0 0.00 25 2 7.41 KHDRBS3 0 genome.wustl.edu 37 8 136533590 136533590 + Missense_Mutation SNP T T G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 8 136533590 136533590 T G SNP KHDRBS3 ENST00000355849 human ensembl 74_37 +1 known missense c.199 p.F67V 1.000 smart_KH_dom smart_KH_dom - no_errors KHDRBS3 HGNC ENSG00000131773 tier1 - - 60 0 0.00 36 10 21.74 KIAA1429 0 genome.wustl.edu 37 8 95538801 95538801 + Silent SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 8 95538801 95538801 G A SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known silent c.1671 p.C557 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 55 0 0.00 56 3 5.08 KIAA1551 0 genome.wustl.edu 37 12 32135664 32135664 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 12 32135664 32135664 G A SNP KIAA1551 ENST00000312561 human ensembl 74_37 +1 known missense c.1775 p.R592H 0.000 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 tier1 - - 65 0 0.00 20 3 13.04 KIF1A 0 genome.wustl.edu 37 2 241725750 241725750 + Splice_Site SNP A A C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 241725750 241725750 A C SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known splice_site c.608+2 e5+2 0.992 - - - no_errors KIF1A HGNC ENSG00000130294 tier1 - - 62 0 0.00 58 5 7.94 KMT2D 0 genome.wustl.edu 37 12 49422664 49422664 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 12 49422664 49422664 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.14329 p.G4777S 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 31 0 0.00 38 4 9.52 KRTAP11-1 0 genome.wustl.edu 37 21 32253808 32253808 + Silent SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 21 32253808 32253808 G A SNP KRTAP11-1 ENST00000332378 human ensembl 74_37 -1 known silent c.36 p.S12 0.991 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP11-1 HGNC ENSG00000182591 tier1 - - 38 0 0.00 24 10 29.41 LAMB1 0 genome.wustl.edu 37 7 107569652 107569652 + Splice_Site SNP T T G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 7 107569652 107569652 T G SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known splice_site c.4746-2 e30-2 1.000 - - - no_errors LAMB1 HGNC ENSG00000091136 tier1 - - 83 0 0.00 14 45 76.27 LINC00588 0 genome.wustl.edu 37 8 58196770 58196770 + RNA SNP T T C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 8 58196770 58196770 T C SNP LINC00588 ENST00000521663 human ensembl 74_37 +1 known rna NULL NULL 0.977 - - - no_errors LINC00588 HGNC ENSG00000215117 tier1 - - 24 0 0.00 10 9 47.37 LOC101928414 0 genome.wustl.edu 37 15 45545880 45545881 + RNA INS - - A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 15 45545880 45545881 - A INS LOC101928414 ENST00000560344 human ensembl 74_37 -1 known rna NULL NULL 0.073:0.086 - - - no_errors CTD-2651B20.3 Clone_based_vega_gene ENSG00000259520 tier1 17 0 0.00 18 4 18.18 LPCAT4 0 genome.wustl.edu 37 15 34655019 34655019 + Silent SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 15 34655019 34655019 G A SNP LPCAT4 ENST00000314891 human ensembl 74_37 -1 known silent c.765 p.L255 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LPCAT4 HGNC ENSG00000176454 tier1 - - 41 0 0.00 51 22 30.14 LPCAT4 0 genome.wustl.edu 37 15 34656266 34656266 + Missense_Mutation SNP G G C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 15 34656266 34656266 G C SNP LPCAT4 ENST00000314891 human ensembl 74_37 -1 known missense c.600 p.F200L 0.999 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LPCAT4 HGNC ENSG00000176454 tier1 - - 60 0 0.00 62 37 37.37 LRRC16A 0 genome.wustl.edu 37 6 25488781 25488781 + Missense_Mutation SNP T T G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 6 25488781 25488781 T G SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel missense c.1033 p.S345A 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 tier1 - - 98 0 0.00 44 27 38.03 LRRC4B 0 genome.wustl.edu 37 19 51022077 51022077 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 51022077 51022077 G A SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.893 p.T298M 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 tier1 - - 85 0 0.00 46 32 41.03 LRRC53 0 genome.wustl.edu 37 1 74941009 74941009 + Missense_Mutation SNP T T G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 74941009 74941009 T G SNP LRRC53 ENST00000294635 human ensembl 74_37 -1 novel missense c.1390 p.T464P 0.003 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC53 HGNC ENSG00000162621 tier1 - - 60 0 0.00 41 10 19.61 LRRIQ1 0 genome.wustl.edu 37 12 85517975 85517975 + Nonsense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 12 85517975 85517975 G T SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known nonsense c.3685 p.E1229* 0.210 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 52 0 0.00 19 3 12.50 LRRK2 0 genome.wustl.edu 37 12 40631771 40631771 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 12 40631771 40631771 G A SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.437 p.G146D 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 71 0 0.00 43 3 6.52 LTBP1 0 genome.wustl.edu 37 2 33482427 33482427 + Missense_Mutation SNP C C G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 33482427 33482427 C G SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.2244 p.H748Q 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 tier1 - - 88 0 0.00 41 44 51.76 MAGEB4 0 genome.wustl.edu 37 X 30261121 30261121 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 X 30261121 30261121 C T SNP MAGEB4 ENST00000378982 human ensembl 74_37 +1 known missense c.869 p.A290V 0.001 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB4 HGNC ENSG00000120289 tier1 - - 39 0 0.00 44 4 8.33 METTL14 0 genome.wustl.edu 37 4 119609098 119609098 + Silent SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 4 119609098 119609098 C T SNP METTL14 ENST00000388822 human ensembl 74_37 +1 known silent c.87 p.D29 1.000 NULL pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL14 HGNC ENSG00000145388 tier1 - - 62 0 0.00 39 4 9.30 METTL25 0 genome.wustl.edu 37 12 82796879 82796879 + Missense_Mutation SNP T T A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 12 82796879 82796879 T A SNP METTL25 ENST00000248306 human ensembl 74_37 +1 known missense c.1249 p.L417I 1.000 NULL NULL - no_errors METTL25 HGNC ENSG00000127720 tier1 - - 69 0 0.00 42 17 28.81 MIR22HG 0 genome.wustl.edu 37 17 1617203 1617203 + RNA DEL G G - TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 17 1617203 1617203 G - DEL MIR22HG ENST00000334146 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR22HG HGNC ENSG00000186594 tier1 57 0 0.00 19 2 9.52 MKLN1 0 genome.wustl.edu 37 7 131149111 131149111 + Nonsense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 7 131149111 131149111 G T SNP MKLN1 ENST00000352689 human ensembl 74_37 +1 known nonsense c.1732 p.E578* 1.000 NULL pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MKLN1 HGNC ENSG00000128585 tier1 - - 60 0 0.00 58 4 6.45 MS4A12 0 genome.wustl.edu 37 11 60264806 60264806 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 60264806 60264806 G T SNP MS4A12 ENST00000016913 human ensembl 74_37 +1 known missense c.15 p.K5N 0.002 NULL pfam_CD20-like - no_errors MS4A12 HGNC ENSG00000071203 72 0 0.00 67 4 5.63 MT-RNR1 0 genome.wustl.edu 37 MT 1509 1509 + RNA SNP T T A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 MT 1509 1509 T A SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 28 0 0.00 5 2 28.57 MT-RNR2 0 genome.wustl.edu 37 MT 1732 1732 + RNA SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 MT 1732 1732 C T SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 51 0 0.00 6 2 25.00 MTMR9 0 genome.wustl.edu 37 8 11180257 11180257 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 8 11180257 11180257 C T SNP MTMR9 ENST00000221086 human ensembl 74_37 +1 known missense c.1610 p.A537V 1.000 NULL pfam_Myotubularin-like_Pase_dom - no_errors MTMR9 HGNC ENSG00000104643 tier1 - - 61 0 0.00 47 4 7.84 MUC5B 0 genome.wustl.edu 37 11 1263020 1263020 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 1263020 1263020 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.4919 p.P1640L 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 52 0 0.00 20 27 57.45 MUC5B 0 genome.wustl.edu 37 11 1269837 1269837 + Silent SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 1269837 1269837 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.11736 p.V3912 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 209 0 0.00 147 95 39.26 MVB12B 0 genome.wustl.edu 37 9 129268626 129268626 + RNA SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 9 129268626 129268626 G A SNP MVB12B ENST00000485886 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MVB12B HGNC ENSG00000196814 tier1 - - 35 0 0.00 22 4 15.38 MYH9 0 genome.wustl.edu 37 22 36685195 36685195 + Missense_Mutation SNP A A C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 22 36685195 36685195 A C SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.4493 p.L1498R 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 tier1 - - 33 0 0.00 7 16 69.57 MYO6 0 genome.wustl.edu 37 6 76602272 76602272 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 6 76602272 76602272 G A SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known missense c.2972 p.R991Q 0.011 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 tier1 - - 73 0 0.00 62 4 6.06 MYT1 0 genome.wustl.edu 37 20 62839660 62839660 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 20 62839660 62839660 G T SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.1111 p.D371Y 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 tier1 - - 34 0 0.00 29 12 29.27 NANOS2 0 genome.wustl.edu 37 19 46417601 46417601 + Silent SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 46417601 46417601 G A SNP NANOS2 ENST00000341294 human ensembl 74_37 -1 known silent c.351 p.N117 0.268 NULL pfam_Znf_nanos-typ - no_errors NANOS2 HGNC ENSG00000188425 tier1 - - 113 0 0.00 100 181 64.18 NARF 0 genome.wustl.edu 37 17 80417920 80417920 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 17 80417920 80417920 C T SNP NARF ENST00000309794 human ensembl 74_37 +1 known missense c.80 p.A27V 0.000 NULL pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARF HGNC ENSG00000141562 tier1 - - 75 0 0.00 48 4 7.69 NCOA1 0 genome.wustl.edu 37 2 24974968 24974968 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 24974968 24974968 C T SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.3824 p.S1275F 0.990 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 tier1 - - 45 0 0.00 40 25 38.46 NELFCD 0 genome.wustl.edu 37 20 57569723 57569723 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 20 57569723 57569723 G T SNP NELFCD ENST00000602795 human ensembl 74_37 +1 known missense c.1792 p.V598L 1.000 pfam_TH1 pfam_TH1 - no_errors NELFCD HGNC ENSG00000101158 tier1 - - 91 0 0.00 51 36 41.38 NKX6-3 0 genome.wustl.edu 37 8 41505662 41505662 + Missense_Mutation SNP C C G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 8 41505662 41505662 C G SNP NKX6-3 ENST00000518699 human ensembl 74_37 -1 known missense c.475 p.E159Q 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors NKX6-3 HGNC ENSG00000165066 tier1 - - 72 0 0.00 37 25 40.32 NLRP12 0 genome.wustl.edu 37 19 54312916 54312916 + Missense_Mutation SNP T T A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 54312916 54312916 T A SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.1997 p.Y666F 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 tier1 - - 50 0 0.00 29 20 40.82 NMNAT1 0 genome.wustl.edu 37 1 10035755 10035755 + Missense_Mutation SNP C C G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 10035755 10035755 C G SNP NMNAT1 ENST00000377205 human ensembl 74_37 +1 known missense c.221 p.T74S 1.000 pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase - no_errors NMNAT1 HGNC ENSG00000173614 tier1 - - 79 0 0.00 53 19 26.39 NOA1 0 genome.wustl.edu 37 4 57842621 57842621 + Silent SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 4 57842621 57842621 G T SNP NOA1 ENST00000264230 human ensembl 74_37 -1 known silent c.1131 p.I377 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors NOA1 HGNC ENSG00000084092 tier1 - - 19 0 0.00 8 12 60.00 NOTCH1 0 genome.wustl.edu 37 9 139397714 139397714 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 9 139397714 139397714 G A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.5087 p.A1696V 1.000 pfam_Notch_NODP_dom,pirsf_Notch pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 - - 65 0 0.00 36 7 16.28 NR1H2 0 genome.wustl.edu 37 19 50885724 50885724 + Silent SNP C C G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 50885724 50885724 C G SNP NR1H2 ENST00000253727 human ensembl 74_37 +1 known silent c.1248 p.R416 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC ENSG00000131408 tier1 - - 31 0 0.00 29 13 30.95 NUB1 0 genome.wustl.edu 37 7 151042544 151042544 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 7 151042544 151042544 G A SNP NUB1 ENST00000568733 human ensembl 74_37 +1 known missense c.181 p.A61T 1.000 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors NUB1 HGNC ENSG00000013374 66 0 0.00 72 4 5.19 NUDT14 0 genome.wustl.edu 37 14 105639420 105639420 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 14 105639420 105639420 C T SNP NUDT14 ENST00000392568 human ensembl 74_37 -1 known missense c.607 p.G203S 0.975 superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase - no_errors NUDT14 HGNC ENSG00000183828 tier1 - - 31 0 0.00 3 16 84.21 NUP188 0 genome.wustl.edu 37 9 131767801 131767801 + Silent SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 9 131767801 131767801 C T SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known silent c.4729 p.L1577 0.997 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 tier1 - - 26 0 0.00 23 4 14.81 NUP210 0 genome.wustl.edu 37 3 13368884 13368884 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 3 13368884 13368884 C T SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.4340 p.R1447H 0.987 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 tier1 - - 33 0 0.00 51 4 7.27 NUP43 0 genome.wustl.edu 37 6 150070753 150070753 + RNA SNP G G C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 6 150070753 150070753 G C SNP NUP43 ENST00000463048 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NUP43 HGNC ENSG00000120253 tier1 - - 15 0 0.00 9 6 40.00 OPCML 0 genome.wustl.edu 37 11 132527063 132527063 + Missense_Mutation SNP C C G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 132527063 132527063 C G SNP OPCML ENST00000541867 human ensembl 74_37 -1 known missense c.319 p.V107L 0.994 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors OPCML HGNC ENSG00000183715 tier1 - - 68 0 0.00 47 14 22.95 OR2A1 0 genome.wustl.edu 37 7 144015712 144015712 + Silent SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 7 144015712 144015712 G T SNP OR2A1 ENST00000408951 human ensembl 74_37 +1 known silent c.495 p.L165 0.823 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A1 HGNC ENSG00000221970 tier1 - - 21 0 0.00 15 7 31.82 OR2V1 0 genome.wustl.edu 37 5 180551778 180551778 + Missense_Mutation SNP T T C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 5 180551778 180551778 T C SNP OR2V1 ENST00000329365 human ensembl 74_37 -1 known missense c.527 p.D176G 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2V1 HGNC ENSG00000185372 tier1 - - 32 0 0.00 28 5 15.15 OTOF 0 genome.wustl.edu 37 2 26703132 26703132 + Silent SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 26703132 26703132 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known silent c.1851 p.L617 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 tier1 - - 60 0 0.00 83 9 9.78 P2RY1 0 genome.wustl.edu 37 3 152554373 152554373 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 3 152554373 152554373 G T SNP P2RY1 ENST00000305097 human ensembl 74_37 +1 known missense c.802 p.V268F 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y1_rcpt,prints_GPCR_Rhodpsn - no_errors P2RY1 HGNC ENSG00000169860 37 0 0.00 37 2 5.13 P2RY6 0 genome.wustl.edu 37 11 73007861 73007861 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 73007861 73007861 C T SNP P2RY6 ENST00000349767 human ensembl 74_37 +1 known missense c.298 p.R100C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y6_rcpt,prints_GPCR_Rhodpsn,prints_P2Y3_rcpt,prints_Protea_act_rcpt - no_errors P2RY6 HGNC ENSG00000171631 tier1 - - 50 0 0.00 27 19 41.30 PAK1 0 genome.wustl.edu 37 11 77034400 77034400 + Missense_Mutation SNP T T A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 77034400 77034400 T A SNP PAK1 ENST00000278568 human ensembl 74_37 -1 known missense c.1606 p.I536F 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK1 HGNC ENSG00000149269 tier1 - - 56 0 0.00 44 4 8.33 PCDH10 0 genome.wustl.edu 37 4 134072935 134072935 + Missense_Mutation SNP A A T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 4 134072935 134072935 A T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1640 p.D547V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 tier1 - - 12 0 0.00 6 4 40.00 PCDH15 0 genome.wustl.edu 37 10 55973754 55973754 + Missense_Mutation SNP A A C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 10 55973754 55973754 A C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.1040 p.L347R 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 39 0 0.00 18 25 58.14 PCDHGB7 0 genome.wustl.edu 37 5 140798869 140798869 + Silent SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 5 140798869 140798869 C T SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known silent c.1443 p.F481 0.012 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 53 0 0.00 38 2 5.00 PER2 0 genome.wustl.edu 37 2 239185809 239185809 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 239185809 239185809 C T SNP PER2 ENST00000254657 human ensembl 74_37 -1 known missense c.256 p.A86T 0.323 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 tier1 - - 65 0 0.00 64 4 5.88 PFKFB1 0 genome.wustl.edu 37 X 54982677 54982677 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 X 54982677 54982677 C T SNP PFKFB1 ENST00000375006 human ensembl 74_37 -1 known missense c.547 p.D183N 0.991 pfam_6Phosfructo_kin,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB1 HGNC ENSG00000158571 tier1 - - 36 0 0.00 3 12 80.00 PHGR1 0 genome.wustl.edu 37 15 40648331 40648331 + Missense_Mutation SNP G G C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 15 40648331 40648331 G C SNP PHGR1 ENST00000448599 human ensembl 74_37 +1 known missense c.76 p.G26R 0.006 NULL NULL - no_errors PHGR1 HGNC ENSG00000233041 16 0 0.00 35 6 14.63 PICALM 0 genome.wustl.edu 37 11 85722153 85722153 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 85722153 85722153 G T SNP PICALM ENST00000393346 human ensembl 74_37 -1 known missense c.685 p.Q229K 1.000 pfam_ANTH_dom pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors PICALM HGNC ENSG00000073921 40 0 0.00 34 2 5.56 PICK1 0 genome.wustl.edu 37 22 38471034 38471036 + In_Frame_Del DEL GGA GGA - TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 22 38471034 38471036 GGA - DEL PICK1 ENST00000356976 human ensembl 74_37 +1 known in_frame_del c.1143_1145 p.E385in_frame_del 0.071:1.000:1.000 NULL pfam_AH_dom,pfam_PDZ,pfam_BAR_dom,superfamily_PDZ,smart_PDZ,pfscan_AH_dom,pfscan_PDZ - no_errors PICK1 HGNC ENSG00000100151 tier1 29 0 0.00 20 2 9.09 PIRT 0 genome.wustl.edu 37 17 10728672 10728672 + Silent SNP C C A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 17 10728672 10728672 C A SNP PIRT ENST00000580256 human ensembl 74_37 -1 known silent c.291 p.L97 1.000 NULL NULL - no_errors PIRT HGNC ENSG00000233670 tier1 - - 82 0 0.00 25 21 45.65 PKDCC 0 genome.wustl.edu 37 2 42285285 42285285 + RNA SNP C C G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 42285285 42285285 C G SNP PKDCC ENST00000480099 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors PKDCC HGNC ENSG00000162878 tier1 - - 66 0 0.00 56 15 21.13 PKLR 0 genome.wustl.edu 37 1 155260412 155260412 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 155260412 155260412 C T SNP PKLR ENST00000342741 human ensembl 74_37 -1 known missense c.1676 p.R559Q 1.000 pfam_Pyrv_Knase_C,superfamily_Pyrv_Knase_C,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 tier1 - - 55 0 0.00 53 13 19.70 PLOD1 0 genome.wustl.edu 37 1 12014761 12014761 + RNA SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 12014761 12014761 C T SNP PLOD1 ENST00000358133 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PLOD1 HGNC ENSG00000083444 tier1 - - 51 0 0.00 23 32 58.18 PLOD2 0 genome.wustl.edu 37 3 145841106 145841106 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 3 145841106 145841106 C T SNP PLOD2 ENST00000480704 human ensembl 74_37 -1 known missense c.208 p.G70R 0.000 NULL NULL - no_errors PLOD2 HGNC ENSG00000152952 tier1 - - 111 0 0.00 75 29 27.88 POTEE 0 genome.wustl.edu 37 2 132021884 132021884 + Silent SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 132021884 132021884 C T SNP POTEE ENST00000356920 human ensembl 74_37 +1 known silent c.2856 p.N952 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 tier1 - - 157 0 0.00 113 33 22.60 PPOX 0 genome.wustl.edu 37 1 161137901 161137901 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 161137901 161137901 G A SNP PPOX ENST00000352210 human ensembl 74_37 +1 known missense c.455 p.R152H 1.000 pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase - no_errors PPOX HGNC ENSG00000143224 tier1 - - 55 0 0.00 50 9 15.00 PPP1R26 0 genome.wustl.edu 37 9 138379218 138379218 + Silent SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 9 138379218 138379218 C T SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known silent c.2862 p.S954 0.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 tier1 - - 47 0 0.00 36 4 10.00 PRAMEF17 0 genome.wustl.edu 37 1 13716931 13716931 + Silent SNP A A C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 13716931 13716931 A C SNP PRAMEF17 ENST00000376098 human ensembl 74_37 +1 known silent c.418 p.R140 0.000 NULL NULL - no_errors PRAMEF17 HGNC ENSG00000204479 tier1 - - 334 0 0.00 170 66 27.97 PREX1 0 genome.wustl.edu 37 20 47351176 47351176 + Missense_Mutation SNP G G C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 20 47351176 47351176 G C SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.426 p.F142L 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 tier1 - - 24 0 0.00 23 17 42.50 PRKXP1 0 genome.wustl.edu 37 15 101088125 101088126 + RNA INS - - T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 15 101088125 101088126 - T INS PRKXP1 ENST00000602585 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-526I2.5 Clone_based_vega_gene ENSG00000270127 tier1 25 0 0.00 27 5 15.62 PRPH2 0 genome.wustl.edu 37 6 42689525 42689525 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 6 42689525 42689525 C T SNP PRPH2 ENST00000230381 human ensembl 74_37 -1 known missense c.548 p.R183H 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors PRPH2 HGNC ENSG00000112619 tier1 - - 64 0 0.00 21 39 62.90 PRRC2C 0 genome.wustl.edu 37 1 171558576 171558576 + Silent SNP T T C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 171558576 171558576 T C SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known silent c.8268 p.P2756 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 tier1 - - 43 0 0.00 44 4 8.33 PRTG 0 genome.wustl.edu 37 15 55971641 55971641 + Missense_Mutation SNP G G C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 15 55971641 55971641 G C SNP PRTG ENST00000389286 human ensembl 74_37 -1 known missense c.976 p.P326A 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 tier1 - - 31 0 0.00 14 17 54.84 PSMG1 0 genome.wustl.edu 37 21 40555233 40555235 + In_Frame_Del DEL CCT CCT - TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 21 40555233 40555235 CCT - DEL PSMG1 ENST00000331573 human ensembl 74_37 -1 known in_frame_del c.79_77 p.E26in_frame_del 0.012:0.015:0.023 pirsf_Proteasome_assmbl_chp_1 pirsf_Proteasome_assmbl_chp_1 - no_errors PSMG1 HGNC ENSG00000183527 tier1 18 0 0.00 7 2 22.22 PTPLAD1 0 genome.wustl.edu 37 15 65864687 65864687 + Missense_Mutation SNP T T C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 15 65864687 65864687 T C SNP PTPLAD1 ENST00000261875 human ensembl 74_37 +1 known missense c.995 p.L332P 1.000 pfam_Tyr_Pase-like_PTPLA pfam_Tyr_Pase-like_PTPLA,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors PTPLAD1 HGNC ENSG00000074696 tier1 - - 62 0 0.00 48 25 34.25 PTPN13 0 genome.wustl.edu 37 4 87718046 87718046 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 4 87718046 87718046 G A SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.6380 p.C2127Y 0.999 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 tier1 - - 130 0 0.00 20 49 70.00 PTPRN2 0 genome.wustl.edu 37 7 157475486 157475486 + Silent SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 7 157475486 157475486 C T SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known silent c.2001 p.Q667 0.961 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 tier1 - - 49 0 0.00 43 4 8.33 RAB4A 0 genome.wustl.edu 37 1 229433269 229433269 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 229433269 229433269 G T SNP RAB4A ENST00000366690 human ensembl 74_37 +1 known missense c.331 p.A111S 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,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_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,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 RAB4A HGNC ENSG00000168118 39 0 0.00 54 4 6.90 RALBP1 0 genome.wustl.edu 37 18 9517255 9517255 + Nonsense_Mutation SNP C C A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 18 9517255 9517255 C A SNP RALBP1 ENST00000019317 human ensembl 74_37 +1 known nonsense c.657 p.Y219* 0.997 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 68 0 0.00 32 2 5.88 RASSF2 0 genome.wustl.edu 37 20 4776546 4776546 + Silent SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 20 4776546 4776546 G A SNP RASSF2 ENST00000379376 human ensembl 74_37 -1 known silent c.202 p.L68 0.986 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF2 HGNC ENSG00000101265 tier1 - - 41 0 0.00 35 13 27.08 RBM4 0 genome.wustl.edu 37 11 66413571 66413571 + RNA SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 66413571 66413571 C T SNP RBM4 ENST00000515838 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors RBM4 HGNC ENSG00000173933 tier1 - - 86 0 0.00 64 53 45.30 RIMKLA 0 genome.wustl.edu 37 1 42875740 42875740 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 42875740 42875740 G T SNP RIMKLA ENST00000431473 human ensembl 74_37 +1 known missense c.567 p.Q189H 1.000 pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLA HGNC ENSG00000177181 tier1 - - 65 0 0.00 58 6 9.38 RNF213 0 genome.wustl.edu 37 17 78363879 78363879 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 17 78363879 78363879 G T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.15353 p.S5118I 0.008 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 45 0 0.00 51 3 5.56 RP1 0 genome.wustl.edu 37 8 55540273 55540273 + Missense_Mutation SNP T T G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 8 55540273 55540273 T G SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.3831 p.S1277R 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 102 0 0.00 61 35 36.46 RTN4 0 genome.wustl.edu 37 2 55199859 55199859 + RNA SNP A A G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 55199859 55199859 A G SNP RTN4 ENST00000486085 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RTN4 HGNC ENSG00000115310 tier1 - - 16 0 0.00 1 18 94.74 RYR1 0 genome.wustl.edu 37 19 38946168 38946168 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 38946168 38946168 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.1654 p.R552W 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 rs193922770 - 70 0 0.00 59 12 16.90 SALL1 0 genome.wustl.edu 37 16 51174681 51174681 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 16 51174681 51174681 G T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.1452 p.N484K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 30 0 0.00 5 22 81.48 SCAP 0 genome.wustl.edu 37 3 47467561 47467561 + Missense_Mutation SNP T T A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 3 47467561 47467561 T A SNP SCAP ENST00000265565 human ensembl 74_37 -1 known missense c.836 p.E279V 1.000 NULL pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SCAP HGNC ENSG00000114650 tier1 - - 50 0 0.00 10 22 68.75 SCN2A 0 genome.wustl.edu 37 2 166245328 166245328 + Missense_Mutation SNP T T C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 166245328 166245328 T C SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.5012 p.M1671T 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 144 0 0.00 90 50 35.71 SCN3B 0 genome.wustl.edu 37 11 123513207 123513207 + Missense_Mutation SNP T T A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 123513207 123513207 T A SNP SCN3B ENST00000299333 human ensembl 74_37 -1 known missense c.392 p.H131L 1.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SCN3B HGNC ENSG00000166257 tier1 - - 54 0 0.00 38 26 40.62 SEL1L3 0 genome.wustl.edu 37 4 25783966 25783968 + In_Frame_Del DEL CTT CTT - TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 4 25783966 25783968 CTT - DEL SEL1L3 ENST00000399878 human ensembl 74_37 -1 known in_frame_del c.2355_2353 p.K785in_frame_del 0.999:0.999:0.964 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 tier1 78 0 0.00 12 22 64.71 SEMA5B 0 genome.wustl.edu 37 3 122632261 122632261 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 3 122632261 122632261 G A SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.2453 p.T818M 0.999 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 tier1 - - 19 0 0.00 5 3 37.50 SF3B2 0 genome.wustl.edu 37 11 65824803 65824803 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 65824803 65824803 G A SNP SF3B2 ENST00000322535 human ensembl 74_37 +1 known missense c.734 p.R245Q 0.645 NULL pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 tier1 - - 55 0 0.00 25 17 39.53 SFMBT2 0 genome.wustl.edu 37 10 7218087 7218087 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 10 7218087 7218087 G A SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.1849 p.R617W 0.998 pfam_DUF3588 pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 62 0 0.00 51 3 5.56 SIRPG 0 genome.wustl.edu 37 20 1615969 1615969 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 20 1615969 1615969 C T SNP SIRPG ENST00000303415 human ensembl 74_37 -1 known missense c.1025 p.R342H 0.000 smart_Ig_sub pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPG HGNC ENSG00000089012 tier1 - - 106 0 0.00 63 42 40.00 SKIV2L2 0 genome.wustl.edu 37 5 54710013 54710013 + Missense_Mutation SNP A A G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 5 54710013 54710013 A G SNP SKIV2L2 ENST00000230640 human ensembl 74_37 +1 known missense c.2755 p.S919G 1.000 pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 tier1 - - 87 0 0.00 48 4 7.69 SLC14A2 0 genome.wustl.edu 37 18 43248375 43248375 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 18 43248375 43248375 G A SNP SLC14A2 ENST00000255226 human ensembl 74_37 +1 known missense c.1969 p.V657M 1.000 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 tier1 - - 82 0 0.00 45 5 10.00 SLC17A6 0 genome.wustl.edu 37 11 22384351 22384351 + Missense_Mutation SNP C C A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 22384351 22384351 C A SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.728 p.S243Y 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 tier1 - - 102 0 0.00 48 23 32.39 SLC17A6 0 genome.wustl.edu 37 11 22384363 22384363 + Missense_Mutation SNP A A G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 22384363 22384363 A G SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.740 p.Y247C 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 tier1 - - 103 0 0.00 44 21 31.82 SLC26A9 0 genome.wustl.edu 37 1 205890954 205890954 + Missense_Mutation SNP G G C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 205890954 205890954 G C SNP SLC26A9 ENST00000340781 human ensembl 74_37 -1 known missense c.1795 p.Q599E 1.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 tier1 - - 44 0 0.00 45 8 15.09 SLC28A3 0 genome.wustl.edu 37 9 86905095 86905095 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 9 86905095 86905095 C T SNP SLC28A3 ENST00000376238 human ensembl 74_37 -1 known missense c.1123 p.V375M 0.998 pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A3 HGNC ENSG00000197506 tier1 - - 81 0 0.00 40 29 42.03 SLC35F5 0 genome.wustl.edu 37 2 114475412 114475412 + Missense_Mutation SNP G G C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 114475412 114475412 G C SNP SLC35F5 ENST00000245680 human ensembl 74_37 -1 known missense c.1512 p.S504R 0.998 NULL pfam_DMT - no_errors SLC35F5 HGNC ENSG00000115084 tier1 - - 30 0 0.00 19 14 42.42 SMAD4 0 genome.wustl.edu 37 18 48591919 48591919 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 18 48591919 48591919 G A SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1082 p.R361H 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 tier1 - - 87 0 0.00 11 36 76.60 SMO 0 genome.wustl.edu 37 7 128845505 128845505 + Missense_Mutation SNP T T C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 7 128845505 128845505 T C SNP SMO ENST00000249373 human ensembl 74_37 +1 known missense c.802 p.F268L 1.000 pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 tier1 - - 40 0 0.00 8 33 80.49 SOX17 0 genome.wustl.edu 37 8 55372131 55372131 + Missense_Mutation SNP T T G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 8 55372131 55372131 T G SNP SOX17 ENST00000297316 human ensembl 74_37 +1 known missense c.821 p.L274R 0.023 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX17 HGNC ENSG00000164736 tier1 - - 18 0 0.00 8 10 55.56 SPEN 0 genome.wustl.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA GA - TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 16255142 16255143 GA - DEL SPEN ENST00000375759 human ensembl 74_37 +1 known frame_shift_del c.2407_2408 p.R806fs 0.999:1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 tier1 52 0 0.00 36 4 10.00 SPOCK3 0 genome.wustl.edu 37 4 167833799 167833799 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 4 167833799 167833799 C T SNP SPOCK3 ENST00000357154 human ensembl 74_37 -1 known missense c.455 p.G152D 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK3 HGNC ENSG00000196104 87 0 0.00 40 3 6.98 SPSB2 0 genome.wustl.edu 37 12 6981290 6981290 + Missense_Mutation SNP T T A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 12 6981290 6981290 T A SNP SPSB2 ENST00000519357 human ensembl 74_37 -1 putative missense c.776 p.Q259L 0.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors SPSB2 HGNC ENSG00000111671 tier1 - - 49 0 0.00 19 21 52.50 SRCIN1 0 genome.wustl.edu 37 17 36708244 36708244 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 17 36708244 36708244 G T SNP SRCIN1 ENST00000264659 human ensembl 74_37 -1 known missense c.2605 p.L869M 0.181 NULL pfam_AIP3_C - no_errors SRCIN1 HGNC ENSG00000017373 70 0 0.00 71 4 5.33 SSPO 0 genome.wustl.edu 37 7 149518163 149518163 + RNA SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 7 149518163 149518163 G T SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 9 0 0.00 3 4 57.14 SUN5 0 genome.wustl.edu 37 20 31575539 31575539 + Missense_Mutation SNP T T C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 20 31575539 31575539 T C SNP SUN5 ENST00000356173 human ensembl 74_37 -1 known missense c.656 p.H219R 0.625 superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN5 HGNC ENSG00000167098 tier1 - - 38 0 0.00 31 17 35.42 SYCP2 0 genome.wustl.edu 37 20 58494490 58494490 + RNA SNP T T C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 20 58494490 58494490 T C SNP SYCP2 ENST00000476314 human ensembl 74_37 -1 putative rna NULL NULL 0.003 - - - no_errors SYCP2 HGNC ENSG00000196074 tier1 - - 34 0 0.00 25 25 50.00 TAPBPL 0 genome.wustl.edu 37 12 6575561 6575561 + RNA SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 12 6575561 6575561 G T SNP TAPBPL ENST00000545700 human ensembl 74_37 +1 known rna NULL NULL 0.032 - - - no_errors TAPBPL HGNC ENSG00000139192 tier1 - - 28 0 0.00 17 6 26.09 TAS2R20 0 genome.wustl.edu 37 12 11150474 11150474 + Missense_Mutation SNP T T C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 12 11150474 11150474 T C SNP TAS2R20 ENST00000538986 human ensembl 74_37 -1 known missense c.1 p.M1V 0.014 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R20 HGNC ENSG00000255837 tier1 - - 8 0 0.00 5 4 44.44 TBC1D8B 0 genome.wustl.edu 37 X 106066577 106066577 + Missense_Mutation SNP C C G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 X 106066577 106066577 C G SNP TBC1D8B ENST00000357242 human ensembl 74_37 +1 known missense c.708 p.H236Q 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 tier1 - - 55 0 0.00 54 4 6.90 TCEA1 0 genome.wustl.edu 37 8 54906287 54906287 + Silent SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 8 54906287 54906287 G A SNP TCEA1 ENST00000521604 human ensembl 74_37 -1 known silent c.261 p.D87 1.000 superfamily_TFIIS_N,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA1 HGNC ENSG00000187735 tier1 - - 45 0 0.00 41 24 36.92 TIGD7 0 genome.wustl.edu 37 16 3350367 3350367 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 16 3350367 3350367 G A SNP TIGD7 ENST00000268674 human ensembl 74_37 -1 known missense c.248 p.A83V 1.000 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 51 0 0.00 36 2 5.26 TNFRSF18 0 genome.wustl.edu 37 1 1139264 1139264 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 1139264 1139264 G A SNP TNFRSF18 ENST00000328596 human ensembl 74_37 -1 known missense c.475 p.R159W 0.000 NULL prints_TNFR_18 - no_errors TNFRSF18 HGNC ENSG00000186891 tier1 - - 22 0 0.00 31 6 16.22 TNR 0 genome.wustl.edu 37 1 175372725 175372725 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 175372725 175372725 C T SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.527 p.S176N 1.000 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 tier1 - - 52 0 0.00 64 4 5.88 TOPBP1 0 genome.wustl.edu 37 3 133339082 133339082 + Silent SNP T T C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 3 133339082 133339082 T C SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known silent c.3288 p.R1096 0.991 NULL pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 tier1 - - 83 0 0.00 58 4 6.45 TP53 0 genome.wustl.edu 37 17 7578222 7578223 + Frame_Shift_Del DEL TC TC - TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 17 7578222 7578223 TC - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.627_626 p.R209fs 0.000:0.000 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 55 0 0.00 15 30 66.67 TP53BP1 0 genome.wustl.edu 37 15 43699688 43699688 + Nonsense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 15 43699688 43699688 G A SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known nonsense c.5827 p.Q1943* 1.000 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 26 0 0.00 30 2 6.25 TPTE2P6 0 genome.wustl.edu 37 13 25160825 25160825 + RNA SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 13 25160825 25160825 G A SNP TPTE2P6 ENST00000440905 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors TPTE2P6 HGNC ENSG00000205822 38 0 0.00 23 3 11.54 TPTEP1 0 genome.wustl.edu 37 22 17083058 17083058 + RNA SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 22 17083058 17083058 G A SNP TPTEP1 ENST00000400593 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TPTEP1 HGNC ENSG00000100181 tier1 - - 68 0 0.00 23 10 30.30 TRAM1 0 genome.wustl.edu 37 8 71520334 71520335 + Frame_Shift_Ins INS - - AGAC TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 8 71520334 71520335 - AGAC INS TRAM1 ENST00000262213 human ensembl 74_37 -1 known frame_shift_ins c.101_100 p.F34fs 1.000:1.000 pirsf_Translocation_assoc_membrane pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1 HGNC ENSG00000067167 tier1 128 0 0.00 86 35 28.93 TRPM1 0 genome.wustl.edu 37 15 31330034 31330034 + Silent SNP T T C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 15 31330034 31330034 T C SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known silent c.2502 p.A834 0.994 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 tier1 - - 73 0 0.00 63 4 5.97 TRPM2 0 genome.wustl.edu 37 21 45799027 45799027 + Missense_Mutation SNP C C G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 21 45799027 45799027 C G SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known missense c.1162 p.Q388E 1.000 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 52 0 0.00 35 2 5.41 TRPM5 0 genome.wustl.edu 37 11 2436661 2436661 + Missense_Mutation SNP C C G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 11 2436661 2436661 C G SNP TRPM5 ENST00000452833 human ensembl 74_37 -1 known missense c.1175 p.S392T 1.000 superfamily_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 tier1 - - 54 0 0.00 31 11 26.19 TTC37 0 genome.wustl.edu 37 5 94833131 94833131 + Silent SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 5 94833131 94833131 G T SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known silent c.3625 p.R1209 0.120 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 tier1 - - 76 0 0.00 23 3 11.54 TTLL5 0 genome.wustl.edu 37 14 76175543 76175543 + Silent SNP A A G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 14 76175543 76175543 A G SNP TTLL5 ENST00000286650 human ensembl 74_37 +1 novel silent c.762 p.G254 0.011 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 tier1 - - 82 0 0.00 55 4 6.78 TTN 0 genome.wustl.edu 37 2 179598557 179598557 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 179598557 179598557 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.11827 p.L3943M 0.977 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 52 0 0.00 56 4 6.67 TXNIP 0 genome.wustl.edu 37 1 145442477 145442477 + RNA SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 145442477 145442477 G T SNP TXNIP ENST00000475171 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors TXNIP HGNC ENSG00000117289 tier1 - - 78 0 0.00 58 4 6.45 UBR4 0 genome.wustl.edu 37 1 19499498 19499498 + Silent SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 19499498 19499498 C T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.3381 p.A1127 0.740 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 53 0 0.00 68 12 15.00 UNC80 0 genome.wustl.edu 37 2 210683747 210683747 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 2 210683747 210683747 C T SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.1724 p.A575V 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 40 0 0.00 38 2 5.00 USP14 0 genome.wustl.edu 37 18 203144 203144 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 18 203144 203144 G T SNP USP14 ENST00000261601 human ensembl 74_37 +1 known missense c.989 p.R330L 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP14 HGNC ENSG00000101557 66 0 0.00 23 2 8.00 VSIG10 0 genome.wustl.edu 37 12 118517313 118517313 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 12 118517313 118517313 C T SNP VSIG10 ENST00000359236 human ensembl 74_37 -1 known missense c.763 p.D255N 0.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG10 HGNC ENSG00000176834 tier1 - - 46 0 0.00 23 13 36.11 VSIG10 0 genome.wustl.edu 37 12 118517327 118517327 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 12 118517327 118517327 C T SNP VSIG10 ENST00000359236 human ensembl 74_37 -1 known missense c.749 p.G250E 0.999 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG10 HGNC ENSG00000176834 tier1 - - 51 0 0.00 26 17 39.53 VTI1A 0 genome.wustl.edu 37 10 114224339 114224339 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 10 114224339 114224339 C T SNP VTI1A ENST00000393077 human ensembl 74_37 +1 known missense c.187 p.P63S 1.000 pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE,smart_T_SNARE_dom - no_errors VTI1A HGNC ENSG00000151532 56 0 0.00 76 4 5.00 XPO6 0 genome.wustl.edu 37 16 28133018 28133018 + Nonsense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 16 28133018 28133018 G T SNP XPO6 ENST00000304658 human ensembl 74_37 -1 known nonsense c.1832 p.S611* 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC ENSG00000169180 60 0 0.00 36 2 5.26 ZDHHC16 0 genome.wustl.edu 37 10 99211446 99211446 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 10 99211446 99211446 G T SNP ZDHHC16 ENST00000370854 human ensembl 74_37 +1 known missense c.14 p.R5L 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC16 HGNC ENSG00000171307 30 0 0.00 25 2 7.41 ZMYM6 0 genome.wustl.edu 37 1 35452920 35452920 + Missense_Mutation SNP G G C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 35452920 35452920 G C SNP ZMYM6 ENST00000357182 human ensembl 74_37 -1 known missense c.3763 p.Q1255E 1.000 superfamily_RNaseH-like_dom pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 tier1 - - 63 0 0.00 37 4 9.76 ZNF326 0 genome.wustl.edu 37 1 90486372 90486372 + Missense_Mutation SNP T T C TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 90486372 90486372 T C SNP ZNF326 ENST00000340281 human ensembl 74_37 +1 known missense c.1196 p.M399T 1.000 pfam_AKAP95 pfam_AKAP95 - no_errors ZNF326 HGNC ENSG00000162664 tier1 - - 56 0 0.00 32 4 11.11 ZNF525 0 genome.wustl.edu 37 19 53885037 53885037 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 53885037 53885037 G A SNP ZNF525 ENST00000355326 human ensembl 74_37 +1 known missense c.359 p.R120H 0.178 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF525 HGNC ENSG00000203326 75 0 0.00 78 5 6.02 ZNF528 0 genome.wustl.edu 37 19 52919153 52919153 + Nonsense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 52919153 52919153 G T SNP ZNF528 ENST00000360465 human ensembl 74_37 +1 known nonsense c.1048 p.E350* 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF528 HGNC ENSG00000167555 tier1 - - 42 0 0.00 33 9 21.43 ZNF544 0 genome.wustl.edu 37 19 58757716 58757716 + Nonsense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 58757716 58757716 G A SNP ZNF544 ENST00000269829 human ensembl 74_37 +1 known nonsense c.83 p.W28* 0.960 pfam_Krueppel-associated_box,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 ZNF544 HGNC ENSG00000198131 tier1 - - 64 0 0.00 53 25 32.05 ZNF568 0 genome.wustl.edu 37 19 37440440 37440440 + Nonsense_Mutation SNP A A T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 37440440 37440440 A T SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known nonsense c.385 p.K129* 0.706 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 ZNF568 HGNC ENSG00000198453 tier1 - - 42 0 0.00 52 5 8.77 ZNF583 0 genome.wustl.edu 37 19 56935610 56935610 + Missense_Mutation SNP C C G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 56935610 56935610 C G SNP ZNF583 ENST00000291598 human ensembl 74_37 +1 known missense c.1583 p.S528C 0.009 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF583 HGNC ENSG00000198440 58 0 0.00 42 3 6.67 ZNF644 0 genome.wustl.edu 37 1 91406698 91406698 + Silent SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 91406698 91406698 C T SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known silent c.213 p.T71 0.473 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 55 0 0.00 32 2 5.88 ZNF695 0 genome.wustl.edu 37 1 247109044 247109044 + RNA SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 1 247109044 247109044 G A SNP ZNF695 ENST00000498046 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF695 HGNC ENSG00000197472 tier1 - - 34 0 0.00 24 5 17.24 ZNF835 0 genome.wustl.edu 37 19 57174972 57174972 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 57174972 57174972 C T SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.1595 p.R532H 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 tier1 - - 30 0 0.00 23 23 50.00 ZNF844 0 genome.wustl.edu 37 19 12187160 12187160 + Missense_Mutation SNP A A G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 12187160 12187160 A G SNP ZNF844 ENST00000439326 human ensembl 74_37 +1 known missense c.1225 p.I409V 0.000 NULL 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 ZNF844 HGNC ENSG00000223547 tier1 - - 81 0 0.00 34 17 33.33 ZNF844 0 genome.wustl.edu 37 19 12187502 12187502 + Missense_Mutation SNP A A G TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d fc594ce0-d420-4d5f-a048-884c5a935e71 19 12187502 12187502 A G SNP ZNF844 ENST00000439326 human ensembl 74_37 +1 known missense c.1567 p.K523E 0.004 NULL 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 ZNF844 HGNC ENSG00000223547 80 0 0.00 32 2 5.88