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 ABCG2 0 genome.wustl.edu 37 4 89034705 89034705 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 4 89034705 89034705 G T SNP ABCG2 ENST00000237612 human ensembl 74_37 -1 known missense c.944 p.A315D 0.002 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG2 HGNC ENSG00000118777 tier1 - - 52 0 0.00 46 4 8.00 ACACB 0 genome.wustl.edu 37 12 109665216 109665216 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 12 109665216 109665216 G T SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.3923 p.S1308I 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 tier1 - - 60 0 0.00 53 4 7.02 ACVR2A 0 genome.wustl.edu 37 2 148657054 148657054 + Silent SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 2 148657054 148657054 C T SNP ACVR2A ENST00000241416 human ensembl 74_37 +1 known silent c.291 p.S97 1.000 pfam_Activin_rcpt,prints_TGFB_receptor pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 tier1 - - 77 0 0.00 67 4 5.63 ADAM18 0 genome.wustl.edu 37 8 39506020 39506020 + Nonsense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 8 39506020 39506020 G T SNP ADAM18 ENST00000265707 human ensembl 74_37 +1 known nonsense c.1204 p.E402* 0.998 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM18 HGNC ENSG00000168619 tier1 - - 52 0 0.00 58 4 6.45 ADAM29 0 genome.wustl.edu 37 4 175898248 175898248 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 4 175898248 175898248 G T SNP ADAM29 ENST00000359240 human ensembl 74_37 +1 known missense c.1572 p.L524F 0.005 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 19 0 0.00 30 2 6.25 AOC1 0 genome.wustl.edu 37 7 150555061 150555061 + Silent SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 7 150555061 150555061 G T SNP AOC1 ENST00000416793 human ensembl 74_37 +1 known silent c.1503 p.L501 0.952 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 tier1 - - 55 0 0.00 60 5 7.69 ARMC4P1 0 genome.wustl.edu 37 10 27552121 27552121 + RNA SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 10 27552121 27552121 G A SNP ARMC4P1 ENST00000576034 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ARMC4P1 HGNC ENSG00000238021 tier1 - - 30 0 0.00 21 4 16.00 ASF1B 0 genome.wustl.edu 37 19 14231429 14231429 + Missense_Mutation SNP T T G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 19 14231429 14231429 T G SNP ASF1B ENST00000263382 human ensembl 74_37 -1 known missense c.451 p.I151L 1.000 pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like - no_errors ASF1B HGNC ENSG00000105011 tier1 - - 57 0 0.00 13 30 69.77 ATAD2B 0 genome.wustl.edu 37 2 24033337 24033337 + Missense_Mutation SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 2 24033337 24033337 C T SNP ATAD2B ENST00000238789 human ensembl 74_37 -1 known missense c.2303 p.R768H 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 47 0 0.00 34 2 5.56 ATG5 0 genome.wustl.edu 37 6 106740953 106740953 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 6 106740953 106740953 G T SNP ATG5 ENST00000343245 human ensembl 74_37 -1 known missense c.265 p.L89I 1.000 pfam_Atg5 pfam_Atg5 - no_errors ATG5 HGNC ENSG00000057663 tier1 - - 55 0 0.00 83 5 5.68 ATP2B4 0 genome.wustl.edu 37 1 203708868 203708868 + Silent SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 203708868 203708868 G T SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known silent c.3504 p.L1168 0.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 tier1 - - 61 0 0.00 71 4 5.33 ATP8A1 0 genome.wustl.edu 37 4 42554533 42554533 + Missense_Mutation SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 4 42554533 42554533 G A SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known missense c.1508 p.A503V 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 tier1 - - 38 0 0.00 12 30 71.43 B4GALT1 0 genome.wustl.edu 37 9 33113550 33113550 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 9 33113550 33113550 G T SNP B4GALT1 ENST00000379731 human ensembl 74_37 -1 known missense c.1099 p.L367I 0.029 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT1 HGNC ENSG00000086062 tier1 - - 47 0 0.00 41 4 8.89 BAIAP3 0 genome.wustl.edu 37 16 1391467 1391467 + Silent SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 16 1391467 1391467 C T SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known silent c.813 p.P271 0.241 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 tier1 rs147169956 - 13 0 0.00 4 15 78.95 BEND4 0 genome.wustl.edu 37 4 42145781 42145781 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 4 42145781 42145781 G T SNP BEND4 ENST00000502486 human ensembl 74_37 -1 known missense c.718 p.Q240K 1.000 NULL pfam_BEN_domain - no_errors BEND4 HGNC ENSG00000188848 tier1 - - 41 0 0.00 40 5 11.11 BOC 0 genome.wustl.edu 37 3 112997652 112997652 + RNA SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 3 112997652 112997652 C T SNP BOC ENST00000497495 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BOC HGNC ENSG00000144857 tier1 - - 73 0 0.00 63 4 5.97 C10orf112 0 genome.wustl.edu 37 10 19636823 19636823 + Missense_Mutation SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 10 19636823 19636823 C T SNP C10orf112 ENST00000454679 human ensembl 74_37 +1 known missense c.1913 p.A638V 0.444 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 tier1 - - 63 0 0.00 32 14 30.43 C16orf96 0 genome.wustl.edu 37 16 4638333 4638333 + Splice_Site SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 16 4638333 4638333 G T SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known splice_site c.2592+1 e9+1 1.000 - - - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 44 0 0.00 39 4 9.30 C1orf127 0 genome.wustl.edu 37 1 11017133 11017133 + Missense_Mutation SNP A A G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 11017133 11017133 A G SNP C1orf127 ENST00000377004 human ensembl 74_37 -1 known missense c.725 p.L242P 0.601 NULL superfamily_DNA-bd_dom_put - no_errors C1orf127 HGNC ENSG00000175262 tier1 - - 55 0 0.00 64 4 5.88 C2CD2L 0 genome.wustl.edu 37 11 118981809 118981809 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 11 118981809 118981809 G T SNP C2CD2L ENST00000336702 human ensembl 74_37 +1 known missense c.729 p.K243N 1.000 NULL superfamily_C2_dom - no_errors C2CD2L HGNC ENSG00000172375 tier1 - - 39 0 0.00 29 4 12.12 C2orf78 0 genome.wustl.edu 37 2 74043283 74043283 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 2 74043283 74043283 G T SNP C2orf78 ENST00000409561 human ensembl 74_37 +1 novel missense c.1933 p.D645Y 0.004 NULL NULL - no_errors C2orf78 HGNC ENSG00000187833 23 0 0.00 22 2 8.33 C5orf27 0 genome.wustl.edu 37 5 95194542 95194542 + Nonsense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 5 95194542 95194542 G T SNP C5orf27 ENST00000357880 human ensembl 74_37 +1 known nonsense c.109 p.G37* 0.000 NULL NULL - no_errors C5orf27 HGNC ENSG00000236882 tier1 - - 49 0 0.00 38 5 11.63 CABP1 0 genome.wustl.edu 37 12 121093650 121093651 + Frame_Shift_Ins INS - - CA TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 12 121093650 121093651 - CA INS CABP1 ENST00000453000 human ensembl 74_37 +1 putative frame_shift_ins c.37_38 p.V13fs 0.000:0.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP1 HGNC ENSG00000157782 tier1 57 0 0.00 32 4 11.11 CACNA1A 0 genome.wustl.edu 37 19 13342533 13342533 + Nonsense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 19 13342533 13342533 G T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known nonsense c.5391 p.C1797* 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 41 0 0.00 36 4 10.00 CALCOCO2 0 genome.wustl.edu 37 17 46937763 46937763 + Nonsense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 17 46937763 46937763 G T SNP CALCOCO2 ENST00000258947 human ensembl 74_37 +1 known nonsense c.1096 p.G366* 0.001 NULL pfam_CoCoA - no_errors CALCOCO2 HGNC ENSG00000136436 tier1 - - 51 0 0.00 64 4 5.88 CAMSAP1 0 genome.wustl.edu 37 9 138719368 138719368 + Missense_Mutation SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 9 138719368 138719368 G A SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known missense c.1141 p.R381C 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 tier1 - - 42 0 0.00 45 33 42.31 CATSPER2P1 0 genome.wustl.edu 37 15 44036443 44036443 + RNA SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 15 44036443 44036443 G T SNP CATSPER2P1 ENST00000429276 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 tier1 - - 59 0 0.00 65 4 5.80 CCDC30 0 genome.wustl.edu 37 1 43110363 43110363 + Splice_Site SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 43110363 43110363 G T SNP CCDC30 ENST00000340612 human ensembl 74_37 +1 known splice_site c.1776-1 e12-1 0.983 - - - no_errors CCDC30 HGNC ENSG00000186409 tier1 - - 47 0 0.00 51 4 7.27 CCNI 0 genome.wustl.edu 37 4 77969388 77969388 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 4 77969388 77969388 G T SNP CCNI ENST00000237654 human ensembl 74_37 -1 known missense c.1118 p.P373H 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNI HGNC ENSG00000118816 tier1 - - 45 0 0.00 50 4 7.41 CD36 0 genome.wustl.edu 37 7 80302143 80302143 + Missense_Mutation SNP C C A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 7 80302143 80302143 C A SNP CD36 ENST00000309881 human ensembl 74_37 +1 known missense c.1183 p.P395T 1.000 pfam_CD36 pfam_CD36,prints_CD36_antigen,prints_CD36 - no_errors CD36 HGNC ENSG00000135218 tier1 - - 66 0 0.00 48 57 53.77 CEP128 0 genome.wustl.edu 37 14 81372310 81372310 + Missense_Mutation SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 14 81372310 81372310 C T SNP CEP128 ENST00000281129 human ensembl 74_37 -1 known missense c.350 p.G117D 0.030 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 27 0 0.00 22 2 8.33 CEP290 0 genome.wustl.edu 37 12 88508920 88508920 + Missense_Mutation SNP C C A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 12 88508920 88508920 C A SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.1870 p.D624Y 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 28 0 0.00 41 3 6.82 CERS6 0 genome.wustl.edu 37 2 169404190 169404190 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 2 169404190 169404190 G T SNP CERS6 ENST00000392687 human ensembl 74_37 +1 known missense c.255 p.K85N 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_Homeobox_dom pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS6 HGNC ENSG00000172292 71 0 0.00 68 4 5.56 CKB 0 genome.wustl.edu 37 14 103988794 103988794 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 14 103988794 103988794 G T SNP CKB ENST00000348956 human ensembl 74_37 -1 known missense c.37 p.R13S 1.000 superfamily_ATP-guanido_PTrfase_N pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKB HGNC ENSG00000166165 tier1 - - 19 0 0.00 11 3 21.43 CLASP2 0 genome.wustl.edu 37 3 33580287 33580287 + Silent SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 3 33580287 33580287 G T SNP CLASP2 ENST00000399362 human ensembl 74_37 -1 known silent c.3573 p.G1191 0.634 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 37 0 0.00 54 3 5.26 CLCA4 0 genome.wustl.edu 37 1 87031663 87031663 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 87031663 87031663 G T SNP CLCA4 ENST00000370563 human ensembl 74_37 +1 known missense c.914 p.R305I 0.994 smart_VWF_A,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 tier1 - - 71 0 0.00 69 4 5.48 CLEC4G 0 genome.wustl.edu 37 19 7794764 7794764 + Missense_Mutation SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 19 7794764 7794764 C T SNP CLEC4G ENST00000328853 human ensembl 74_37 -1 known missense c.686 p.R229H 0.423 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4G HGNC ENSG00000182566 80 0 0.00 72 4 5.26 CLIP1 0 genome.wustl.edu 37 12 122862043 122862043 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 12 122862043 122862043 G T SNP CLIP1 ENST00000540338 human ensembl 74_37 -1 known missense c.550 p.P184T 0.999 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 69 0 0.00 57 4 6.56 CNGA2 0 genome.wustl.edu 37 X 150906969 150906969 + Missense_Mutation SNP C C A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab X 150906969 150906969 C A SNP CNGA2 ENST00000329903 human ensembl 74_37 +1 known missense c.14 p.T5N 0.976 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 tier1 - - 19 0 0.00 22 15 40.54 CNIH4 0 genome.wustl.edu 37 1 224544861 224544861 + RNA SNP A A G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 224544861 224544861 A G SNP CNIH4 ENST00000477413 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CNIH4 HGNC ENSG00000143771 tier1 - - 10 0 0.00 8 9 52.94 CNOT6L 0 genome.wustl.edu 37 4 78694306 78694306 + Missense_Mutation SNP T T C TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 4 78694306 78694306 T C SNP CNOT6L ENST00000264903 human ensembl 74_37 -1 known missense c.329 p.N110S 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6L HGNC ENSG00000138767 tier1 - - 157 0 0.00 50 87 63.50 COG4 0 genome.wustl.edu 37 16 70531202 70531202 + Missense_Mutation SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 16 70531202 70531202 C T SNP COG4 ENST00000323786 human ensembl 74_37 -1 known missense c.1403 p.R468Q 1.000 pfam_COG_su4,smart_COG_su4 pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 23 0 0.00 35 2 5.41 COG6 0 genome.wustl.edu 37 13 40261702 40261702 + Missense_Mutation SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 13 40261702 40261702 C T SNP COG6 ENST00000455146 human ensembl 74_37 +1 known missense c.851 p.A284V 1.000 pfam_COG6 pfam_COG6 - no_errors COG6 HGNC ENSG00000133103 tier1 rs148869108 - 32 0 0.00 33 4 10.81 COL6A5 0 genome.wustl.edu 37 3 130110482 130110482 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 3 130110482 130110482 G T SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.2877 p.K959N 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 18 0 0.00 55 4 6.78 COPA 0 genome.wustl.edu 37 1 160278920 160278920 + Frame_Shift_Del DEL G G - TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 160278920 160278920 G - DEL COPA ENST00000368069 human ensembl 74_37 -1 known frame_shift_del c.1190 p.P397fs 1.000 pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 tier1 88 0 0.00 98 40 28.99 COQ9 0 genome.wustl.edu 37 16 57484920 57484920 + RNA SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 16 57484920 57484920 G T SNP COQ9 ENST00000567384 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors COQ9 HGNC ENSG00000088682 tier1 - - 61 0 0.00 56 4 6.67 COX7C 0 genome.wustl.edu 37 5 85913793 85913794 + RNA INS - - A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 5 85913793 85913794 - A INS COX7C ENST00000505430 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors COX7C HGNC ENSG00000127184 tier1 57 0 0.00 24 2 7.69 CREBBP 0 genome.wustl.edu 37 16 3820588 3820588 + Nonsense_Mutation SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 16 3820588 3820588 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known nonsense c.2863 p.Q955* 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 tier1 - - 43 0 0.00 7 33 82.50 DBT 0 genome.wustl.edu 37 1 100680382 100680382 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 100680382 100680382 G T SNP DBT ENST00000370132 human ensembl 74_37 -1 known missense c.930 p.F310L 0.999 pfam_2-oxoacid_DH_actylTfrase pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors DBT HGNC ENSG00000137992 tier1 - - 31 0 0.00 23 4 14.81 DCST1 0 genome.wustl.edu 37 1 155023261 155023261 + Missense_Mutation SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 155023261 155023261 C T SNP DCST1 ENST00000295542 human ensembl 74_37 +1 known missense c.2038 p.R680W 0.002 pfscan_Znf_RING pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 38 0 0.00 53 4 7.02 DMRTA1 0 genome.wustl.edu 37 9 22451252 22451252 + Nonsense_Mutation SNP C C A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 9 22451252 22451252 C A SNP DMRTA1 ENST00000325870 human ensembl 74_37 +1 known nonsense c.857 p.S286* 1.000 NULL pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTA1 HGNC ENSG00000176399 25 0 0.00 59 4 6.35 DNAH3 0 genome.wustl.edu 37 16 20981174 20981174 + Nonsense_Mutation SNP C C A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 16 20981174 20981174 C A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known nonsense c.8398 p.E2800* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 74 0 0.00 46 4 8.00 DNAH5 0 genome.wustl.edu 37 5 13766214 13766214 + Missense_Mutation SNP A A C TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 5 13766214 13766214 A C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.9972 p.D3324E 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 65 0 0.00 41 63 60.00 DNAH9 0 genome.wustl.edu 37 17 11797759 11797759 + Silent SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 17 11797759 11797759 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known silent c.11352 p.T3784 0.766 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 tier1 - - 43 0 0.00 46 16 25.81 DOCK2 0 genome.wustl.edu 37 5 169097578 169097578 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 5 169097578 169097578 G T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.201 p.K67N 0.998 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 38 0 0.00 30 4 11.76 DRP2 0 genome.wustl.edu 37 X 100507655 100507655 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab X 100507655 100507655 G T SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known missense c.1927 p.A643S 1.000 pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_Znf_ZZ pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 13 0 0.00 47 5 9.62 DSN1 0 genome.wustl.edu 37 20 35384224 35384224 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 20 35384224 35384224 G T SNP DSN1 ENST00000373745 human ensembl 74_37 -1 known missense c.734 p.T245N 0.459 pfam_Dsn1/Mis13 pfam_Dsn1/Mis13 - no_errors DSN1 HGNC ENSG00000149636 25 0 0.00 55 4 6.78 DST 0 genome.wustl.edu 37 6 56437732 56437732 + Missense_Mutation SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 6 56437732 56437732 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.13274 p.A4425V 0.000 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 - - 41 0 0.00 112 45 28.66 DTNA 0 genome.wustl.edu 37 18 32418785 32418785 + Silent SNP C C A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 18 32418785 32418785 C A SNP DTNA ENST00000269190 human ensembl 74_37 +1 known silent c.1252 p.R418 1.000 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC ENSG00000134769 43 0 0.00 38 3 7.32 DUSP7 0 genome.wustl.edu 37 3 52090157 52090157 + Missense_Mutation SNP C C G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 3 52090157 52090157 C G SNP DUSP7 ENST00000296483 human ensembl 74_37 -1 known missense c.73 p.D25H 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP7 HGNC ENSG00000164086 tier1 - - 10 0 0.00 0 5 100.00 DYX1C1 0 genome.wustl.edu 37 15 55759136 55759136 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 15 55759136 55759136 G T SNP DYX1C1 ENST00000321149 human ensembl 74_37 -1 known missense c.629 p.A210D 0.895 NULL pfam_TPR_1,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors DYX1C1 HGNC ENSG00000256061 28 0 0.00 29 3 9.38 EML4 0 genome.wustl.edu 37 2 42513409 42513409 + Missense_Mutation SNP C C A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 2 42513409 42513409 C A SNP EML4 ENST00000318522 human ensembl 74_37 +1 known missense c.1012 p.P338T 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 29 0 0.00 19 2 9.52 ENPP1 0 genome.wustl.edu 37 6 132201052 132201052 + Missense_Mutation SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 6 132201052 132201052 G A SNP ENPP1 ENST00000360971 human ensembl 74_37 +1 known missense c.1978 p.G660R 1.000 NULL pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000197594 tier1 - - 39 0 0.00 36 16 30.77 ENSG00000196566 0 genome.wustl.edu 37 10 89419638 89419639 + RNA INS - - GCT TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 10 89419638 89419639 - GCT INS ENSG00000196566 ENST00000354527 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-57C13.3 Clone_based_vega_gene ENSG00000196566 tier1 12 0 0.00 8 10 55.56 ENSG00000212939 0 genome.wustl.edu 37 22 49947591 49947591 + RNA SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 22 49947591 49947591 G T SNP ENSG00000212939 ENST00000391625 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP1-29C18.10 Clone_based_vega_gene ENSG00000212939 tier1 - - 57 0 0.00 61 4 6.15 ENSG00000213971 0 genome.wustl.edu 37 19 23444867 23444867 + RNA SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 19 23444867 23444867 C T SNP ENSG00000213971 ENST00000397094 human ensembl 74_37 -1 known rna NULL NULL 0.044 - - - no_errors RP11-15H20.6 Clone_based_vega_gene ENSG00000213971 tier1 - - 32 0 0.00 17 3 15.00 ENSG00000252531 0 genome.wustl.edu 37 2 3628262 3628262 + RNA SNP C C G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 2 3628262 3628262 C G SNP ENSG00000252531 ENST00000516722 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors SNORA73 RFAM ENSG00000252531 tier1 - - 42 0 0.00 1 30 96.77 ENSG00000257434 0 genome.wustl.edu 37 12 75436195 75436196 + RNA DEL GC GC - TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 12 75436195 75436196 GC - DEL ENSG00000257434 ENST00000547040 human ensembl 74_37 +1 known rna NULL NULL 0.973:0.974 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257434 tier1 34 0 0.00 17 13 43.33 ENSG00000257434 0 genome.wustl.edu 37 12 75436199 75436200 + RNA INS - - C TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 12 75436199 75436200 - C INS ENSG00000257434 ENST00000547040 human ensembl 74_37 +1 known rna NULL NULL 0.933:0.875 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257434 tier1 34 0 0.00 12 13 52.00 ENSG00000257434 0 genome.wustl.edu 37 12 75436201 75436201 + RNA SNP T T G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 12 75436201 75436201 T G SNP ENSG00000257434 ENST00000547040 human ensembl 74_37 +1 known rna NULL NULL 0.630 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257434 tier1 - - 33 0 0.00 12 13 52.00 ENSG00000259314 0 genome.wustl.edu 37 15 91147582 91147582 + RNA SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 15 91147582 91147582 C T SNP ENSG00000259314 ENST00000559839 human ensembl 74_37 -1 known rna NULL NULL 0.016 - - - no_errors CTD-3065B20.3 Clone_based_vega_gene ENSG00000259314 tier1 - - 62 0 0.00 68 33 32.67 ENSG00000267848 0 genome.wustl.edu 37 20 62585043 62585044 + Frame_Shift_Ins INS - - A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 20 62585043 62585044 - A INS ENSG00000267848 ENST00000595604 human ensembl 74_37 +1 known frame_shift_ins c.37_38 p.K17fs 0.023:0.024 NULL NULL - no_errors AL118506.1 Clone_based_ensembl_gene ENSG00000267848 tier1 19 0 0.00 52 6 10.34 ENSG00000269175 0 genome.wustl.edu 37 1 101456193 101456193 + Frame_Shift_Del DEL A A - TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 101456193 101456193 A - DEL ENSG00000269175 ENST00000593496 human ensembl 74_37 +1 known frame_shift_del c.187 p.R66fs 0.002 NULL NULL - no_errors AC093157.1 Clone_based_ensembl_gene ENSG00000269175 tier1 38 0 0.00 29 2 6.45 ENSG00000272869 0 genome.wustl.edu 37 5 112196886 112196886 + RNA SNP A A G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 5 112196886 112196886 A G SNP ENSG00000272869 ENST00000503445 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTC-487M23.8 Clone_based_vega_gene ENSG00000272869 tier1 - - 54 0 0.00 20 18 47.37 EPB41L1 0 genome.wustl.edu 37 20 34778583 34778583 + Silent SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 20 34778583 34778583 G T SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known silent c.1164 p.V388 1.000 pfam_FERM-adjacent,pirsf_Band_41_protein pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 40 0 0.00 67 4 5.63 EPHB6 0 genome.wustl.edu 37 7 142562397 142562398 + Frame_Shift_Ins INS - - C TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 7 142562397 142562398 - C INS EPHB6 ENST00000392957 human ensembl 74_37 +1 known frame_shift_ins c.839_840 p.R283fs 0.980:0.997 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 tier1 24 0 0.00 36 2 5.26 EXOSC7 0 genome.wustl.edu 37 3 45046822 45046822 + Silent SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 3 45046822 45046822 G A SNP EXOSC7 ENST00000265564 human ensembl 74_37 +1 known silent c.531 p.S177 0.004 NULL pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC7 HGNC ENSG00000075914 tier1 - - 48 0 0.00 24 38 61.29 FAAH2 0 genome.wustl.edu 37 X 57458421 57458421 + Missense_Mutation SNP C C G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab X 57458421 57458421 C G SNP FAAH2 ENST00000374900 human ensembl 74_37 +1 known missense c.1067 p.S356C 1.000 pfam_Amidase,superfamily_Amidase_dom pfam_Amidase,superfamily_Amidase_dom - no_errors FAAH2 HGNC ENSG00000165591 tier1 - - 16 0 0.00 65 23 26.14 FAM13A 0 genome.wustl.edu 37 4 89772174 89772174 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 4 89772174 89772174 G T SNP FAM13A ENST00000264344 human ensembl 74_37 -1 known missense c.1004 p.P335H 0.879 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 29 0 0.00 42 3 6.67 FAM13B 0 genome.wustl.edu 37 5 137323168 137323168 + Missense_Mutation SNP C C A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 5 137323168 137323168 C A SNP FAM13B ENST00000033079 human ensembl 74_37 -1 known missense c.1028 p.G343V 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 23 0 0.00 36 3 7.69 FAM72B 0 genome.wustl.edu 37 1 120839839 120839839 + Silent SNP T T C TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 120839839 120839839 T C SNP FAM72B ENST00000369390 human ensembl 74_37 +1 known silent c.6 p.S2 1.000 NULL NULL - no_errors FAM72B HGNC ENSG00000188610 27 0 0.00 38 3 7.32 FCRLB 0 genome.wustl.edu 37 1 161695655 161695655 + Nonsense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 161695655 161695655 G T SNP FCRLB ENST00000367948 human ensembl 74_37 +1 known nonsense c.352 p.E118* 1.000 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLB HGNC ENSG00000162746 64 0 0.00 65 4 5.80 FERMT1 0 genome.wustl.edu 37 20 6065919 6065919 + Missense_Mutation SNP G G C TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 20 6065919 6065919 G C SNP FERMT1 ENST00000217289 human ensembl 74_37 -1 known missense c.1387 p.Q463E 0.337 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT1 HGNC ENSG00000101311 tier1 - - 44 0 0.00 49 12 19.67 GABRG1 0 genome.wustl.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 4 46060358 46060358 A - DEL GABRG1 ENST00000295452 human ensembl 74_37 -1 known frame_shift_del c.792 p.F264fs 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 tier1 39 0 0.00 33 3 8.33 GALNT5 0 genome.wustl.edu 37 2 158115477 158115477 + Nonsense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 2 158115477 158115477 G T SNP GALNT5 ENST00000259056 human ensembl 74_37 +1 known nonsense c.883 p.E295* 0.943 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 tier1 - - 37 0 0.00 39 4 9.30 GID8 0 genome.wustl.edu 37 20 61572954 61572954 + Missense_Mutation SNP A A T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 20 61572954 61572954 A T SNP GID8 ENST00000266069 human ensembl 74_37 +1 known missense c.100 p.M34L 1.000 pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,pfscan_LisH_dimerisation pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors GID8 HGNC ENSG00000101193 tier1 - - 59 0 0.00 59 60 50.42 GJB7 0 genome.wustl.edu 37 6 87994440 87994440 + Missense_Mutation SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 6 87994440 87994440 C T SNP GJB7 ENST00000296882 human ensembl 74_37 -1 known missense c.191 p.C64Y 1.000 pfam_Connexin_N,smart_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJB7 HGNC ENSG00000164411 tier1 - - 37 0 0.00 20 8 28.57 GK5 0 genome.wustl.edu 37 3 141923397 141923397 + RNA SNP T T C TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 3 141923397 141923397 T C SNP GK5 ENST00000466685 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GK5 HGNC ENSG00000175066 tier1 - - 60 0 0.00 10 86 89.58 GLB1L2 0 genome.wustl.edu 37 11 134240261 134240261 + Missense_Mutation SNP T T C TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 11 134240261 134240261 T C SNP GLB1L2 ENST00000339772 human ensembl 74_37 +1 known missense c.1183 p.S395P 1.000 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L2 HGNC ENSG00000149328 tier1 - - 82 0 0.00 72 4 5.26 GOLGA6L5 0 genome.wustl.edu 37 15 85053137 85053137 + RNA SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 15 85053137 85053137 C T SNP GOLGA6L5 ENST00000414190 human ensembl 74_37 -1 known rna NULL NULL 0.120 - - - no_errors GOLGA6L5 HGNC ENSG00000230373 tier1 - - 75 0 0.00 138 11 7.38 GPR158 0 genome.wustl.edu 37 10 25887177 25887177 + Silent SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 10 25887177 25887177 G T SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known silent c.2622 p.P874 0.001 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 51 0 0.00 36 2 5.26 GPR98 0 genome.wustl.edu 37 5 90001286 90001286 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 5 90001286 90001286 G T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.8456 p.S2819I 1.000 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 30 0 0.00 36 2 5.26 GRM3 0 genome.wustl.edu 37 7 86274134 86274134 + Missense_Mutation SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 7 86274134 86274134 G A SNP GRM3 ENST00000546348 human ensembl 74_37 +1 known missense c.46 p.A16T 0.992 NULL pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt - no_errors GRM3 HGNC ENSG00000198822 tier1 - - 41 0 0.00 43 13 23.21 HERC4 0 genome.wustl.edu 37 10 69834989 69834989 + RNA SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 10 69834989 69834989 G T SNP HERC4 ENST00000395185 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors HERC4 HGNC ENSG00000148634 tier1 - - 83 0 0.00 38 46 54.76 HIF3A 0 genome.wustl.edu 37 19 46832499 46832499 + Silent SNP C C G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 19 46832499 46832499 C G SNP HIF3A ENST00000377670 human ensembl 74_37 +1 known silent c.1476 p.P492 0.997 pfam_HIF_alpha_subunit pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC ENSG00000124440 tier1 - - 37 0 0.00 13 34 72.34 HLA-DPB2 0 genome.wustl.edu 37 6 33084929 33084929 + RNA SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 6 33084929 33084929 G T SNP HLA-DPB2 ENST00000435074 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors HLA-DPB2 HGNC ENSG00000224557 tier1 - - 74 0 0.00 47 4 7.84 HMCN1 0 genome.wustl.edu 37 1 186114919 186114919 + Missense_Mutation SNP C C G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 186114919 186114919 C G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.14472 p.S4824R 0.931 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 82 0 0.00 72 38 34.55 IBSP 0 genome.wustl.edu 37 4 88723664 88723664 + Missense_Mutation SNP A A G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 4 88723664 88723664 A G SNP IBSP ENST00000226284 human ensembl 74_37 +1 known missense c.59 p.K20R 1.000 pfam_BSP_II pfam_BSP_II - no_errors IBSP HGNC ENSG00000029559 tier1 - - 50 0 0.00 16 35 68.63 ICAM5 0 genome.wustl.edu 37 19 10402942 10402942 + Missense_Mutation SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 19 10402942 10402942 G A SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known missense c.905 p.C302Y 1.000 NULL pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 tier1 - - 155 0 0.00 75 10 11.76 IGF2R 0 genome.wustl.edu 37 6 160494796 160494796 + Missense_Mutation SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 6 160494796 160494796 G A SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.4955 p.C1652Y 0.757 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 tier1 - - 28 0 0.00 17 9 34.62 IGSF9B 0 genome.wustl.edu 37 11 133789698 133789698 + Silent SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 11 133789698 133789698 G T SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known silent c.3922 p.R1308 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 36 0 0.00 40 3 6.98 IPO7 0 genome.wustl.edu 37 11 9459723 9459723 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 11 9459723 9459723 G T SNP IPO7 ENST00000379719 human ensembl 74_37 +1 known missense c.2586 p.L862F 0.997 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ENSG00000205339 68 0 0.00 61 4 6.15 KCNH7 0 genome.wustl.edu 37 2 163292018 163292018 + Silent SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 2 163292018 163292018 G T SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known silent c.1644 p.G548 0.215 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 16 0 0.00 35 2 5.41 KIAA0100 0 genome.wustl.edu 37 17 26959178 26959178 + Silent SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 17 26959178 26959178 G T SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known silent c.3885 p.V1295 0.922 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 tier1 - - 64 0 0.00 72 5 6.49 KIAA1217 0 genome.wustl.edu 37 10 24762672 24762672 + Silent SNP A A G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 10 24762672 24762672 A G SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known silent c.1362 p.K454 0.153 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 tier1 - - 48 0 0.00 6 4 40.00 KIAA1467 0 genome.wustl.edu 37 12 13224300 13224300 + Silent SNP C C G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 12 13224300 13224300 C G SNP KIAA1467 ENST00000197268 human ensembl 74_37 +1 known silent c.1494 p.A498 0.134 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors KIAA1467 HGNC ENSG00000084444 tier1 - - 35 0 0.00 14 15 51.72 KIAA1549 0 genome.wustl.edu 37 7 138603427 138603427 + Nonsense_Mutation SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 7 138603427 138603427 C T SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known nonsense c.945 p.W315* 0.030 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 28 0 0.00 37 2 5.13 KIF19 0 genome.wustl.edu 37 17 72324594 72324594 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 17 72324594 72324594 G T SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known missense c.70 p.A24S 0.992 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 tier1 - - 46 0 0.00 36 4 10.00 KIFC3 0 genome.wustl.edu 37 16 57793062 57793062 + Silent SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 16 57793062 57793062 C T SNP KIFC3 ENST00000445690 human ensembl 74_37 -1 known silent c.2480 p.*827 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC3 HGNC ENSG00000140859 106 0 0.00 76 4 5.00 KMT2A 0 genome.wustl.edu 37 11 118365439 118365439 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 11 118365439 118365439 G T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.5311 p.V1771F 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 18 0 0.00 45 4 8.16 L3MBTL1 0 genome.wustl.edu 37 20 42142257 42142257 + Silent SNP C C A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 20 42142257 42142257 C A SNP L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known silent c.48 p.P16 0.000 NULL pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 23 0 0.00 73 4 5.19 LARP1 0 genome.wustl.edu 37 5 154172210 154172210 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 5 154172210 154172210 G T SNP LARP1 ENST00000336314 human ensembl 74_37 +1 known missense c.362 p.R121L 0.995 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 48 0 0.00 63 4 5.97 LEPR 0 genome.wustl.edu 37 1 66075771 66075771 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 66075771 66075771 G T SNP LEPR ENST00000349533 human ensembl 74_37 +1 known missense c.1894 p.V632F 0.001 superfamily_Fibronectin_type3 pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 70 0 0.00 56 3 5.08 LHX6 0 genome.wustl.edu 37 9 124967012 124967012 + Missense_Mutation SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 9 124967012 124967012 C T SNP LHX6 ENST00000340587 human ensembl 74_37 -1 known missense c.1102 p.V368M 0.990 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX6 HGNC ENSG00000106852 75 0 0.00 87 5 5.43 LIN7A 0 genome.wustl.edu 37 12 81242083 81242083 + Nonsense_Mutation SNP C C A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 12 81242083 81242083 C A SNP LIN7A ENST00000552864 human ensembl 74_37 -1 known nonsense c.220 p.E74* 1.000 pfam_L27_C,smart_L27,pirsf_Lin-7_homologue,pfscan_L27 pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7A HGNC ENSG00000111052 46 0 0.00 57 3 5.00 LINC00471 0 genome.wustl.edu 37 2 232373896 232373896 + RNA SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 2 232373896 232373896 G T SNP LINC00471 ENST00000313064 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00471 HGNC ENSG00000181798 tier1 - - 61 0 0.00 63 4 5.97 LINC00623 0 genome.wustl.edu 37 1 149581062 149581063 + RNA INS - - A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 149581062 149581063 0 A INS LINC00623 ENST00000598569 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-353N4.6 Clone_based_vega_gene ENSG00000269501 63 0 0.00 130 7 5.11 LMNB1 0 genome.wustl.edu 37 5 126113416 126113416 + Silent SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 5 126113416 126113416 C T SNP LMNB1 ENST00000261366 human ensembl 74_37 +1 known silent c.216 p.G72 1.000 pfam_IF pfam_IF,pfam_Lamin_tail_dom - no_errors LMNB1 HGNC ENSG00000113368 tier1 - - 12 0 0.00 3 5 62.50 LMNB2 0 genome.wustl.edu 37 19 2456775 2456775 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 19 2456775 2456775 G T SNP LMNB2 ENST00000325327 human ensembl 74_37 -1 known missense c.157 p.L53I 1.000 pfam_IF pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNB2 HGNC ENSG00000176619 tier1 - - 16 0 0.00 3 4 57.14 LMO2 0 genome.wustl.edu 37 11 33881097 33881097 + Nonsense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 11 33881097 33881097 G T SNP LMO2 ENST00000257818 human ensembl 74_37 -1 known nonsense c.489 p.C163* 0.168 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO2 HGNC ENSG00000135363 tier1 - - 32 0 0.00 33 4 10.81 LNPEP 0 genome.wustl.edu 37 5 96332092 96332092 + Splice_Site SNP A A G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 5 96332092 96332092 A G SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known splice_site c.1408-2 e7-2 1.000 - - - no_errors LNPEP HGNC ENSG00000113441 92 0 0.00 118 7 5.60 LONRF2 0 genome.wustl.edu 37 2 100900818 100900818 + Missense_Mutation SNP A A T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 2 100900818 100900818 A T SNP LONRF2 ENST00000393437 human ensembl 74_37 -1 known missense c.2207 p.I736N 0.998 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF2 HGNC ENSG00000170500 36 0 0.00 42 6 12.50 LPCAT3 0 genome.wustl.edu 37 12 7086807 7086807 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 12 7086807 7086807 G T SNP LPCAT3 ENST00000261407 human ensembl 74_37 -1 known missense c.1141 p.L381M 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors LPCAT3 HGNC ENSG00000111684 53 0 0.00 55 3 5.17 LRP2 0 genome.wustl.edu 37 2 170070332 170070332 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 2 170070332 170070332 G T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.5875 p.Q1959K 0.343 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 35 0 0.00 38 2 5.00 LRRD1 0 genome.wustl.edu 37 7 91793876 91793876 + Missense_Mutation SNP C C G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 7 91793876 91793876 C G SNP LRRD1 ENST00000430130 human ensembl 74_37 -1 known missense c.641 p.R214T 0.636 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death_domain - no_errors LRRD1 HGNC ENSG00000240720 tier1 - - 50 0 0.00 46 13 22.03 LTBP1 0 genome.wustl.edu 37 2 33484653 33484653 + Splice_Site SNP A A C TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 2 33484653 33484653 A C SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known splice_site c.2396-2 e13-2 1.000 - - - no_errors LTBP1 HGNC ENSG00000049323 tier1 - - 37 0 0.00 48 15 23.81 MACF1 0 genome.wustl.edu 37 1 39802265 39802265 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 39802265 39802265 G T SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative missense c.10116 p.M3372I 0.006 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 43 0 0.00 64 4 5.88 MAML1 0 genome.wustl.edu 37 5 179221199 179221199 + RNA SNP C C A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 5 179221199 179221199 C A SNP MAML1 ENST00000503050 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MAML1 HGNC ENSG00000161021 tier1 - - 51 0 0.00 11 25 69.44 MARCH8 0 genome.wustl.edu 37 10 45953909 45953909 + Silent SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 10 45953909 45953909 C T SNP MARCH8 ENST00000319836 human ensembl 74_37 -1 known silent c.654 p.Q218 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH8 HGNC ENSG00000165406 tier1 - - 46 0 0.00 55 4 6.78 MEF2D 0 genome.wustl.edu 37 1 156449488 156449488 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 156449488 156449488 G T SNP MEF2D ENST00000348159 human ensembl 74_37 -1 known missense c.497 p.P166H 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2D HGNC ENSG00000116604 61 0 0.00 80 5 5.88 MFSD9 0 genome.wustl.edu 37 2 103353149 103353149 + Nonsense_Mutation SNP C C A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 2 103353149 103353149 C A SNP MFSD9 ENST00000258436 human ensembl 74_37 -1 known nonsense c.121 p.G41* 0.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors MFSD9 HGNC ENSG00000135953 tier1 - - 68 0 0.00 77 15 16.30 MGAT5B 0 genome.wustl.edu 37 17 74942515 74942515 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 17 74942515 74942515 G T SNP MGAT5B ENST00000428789 human ensembl 74_37 +1 known missense c.1933 p.A645S 1.000 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 49 0 0.00 36 2 5.26 MLH3 0 genome.wustl.edu 37 14 75514257 75514257 + Missense_Mutation SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 14 75514257 75514257 C T SNP MLH3 ENST00000355774 human ensembl 74_37 -1 known missense c.2102 p.S701N 0.001 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 tier1 - - 51 0 0.00 71 4 5.33 MORC2 0 genome.wustl.edu 37 22 31330769 31330769 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 22 31330769 31330769 G T SNP MORC2 ENST00000397641 human ensembl 74_37 -1 known missense c.2192 p.P731Q 0.022 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW - no_errors MORC2 HGNC ENSG00000133422 48 0 0.00 38 2 5.00 MOS 0 genome.wustl.edu 37 8 57025930 57025930 + Silent SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 8 57025930 57025930 G T SNP MOS ENST00000311923 human ensembl 74_37 -1 known silent c.612 p.P204 0.002 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MOS HGNC ENSG00000172680 17 0 0.00 17 3 15.00 MRPL14 0 genome.wustl.edu 37 6 44081844 44081844 + Silent SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 6 44081844 44081844 G T SNP MRPL14 ENST00000372014 human ensembl 74_37 -1 known silent c.174 p.I58 1.000 pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom - no_errors MRPL14 HGNC ENSG00000180992 tier1 - - 26 0 0.00 12 3 20.00 MRPL20 0 genome.wustl.edu 37 1 1337597 1337597 + Missense_Mutation SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 1337597 1337597 C T SNP MRPL20 ENST00000344843 human ensembl 74_37 -1 known missense c.316 p.A106T 1.000 pfam_Ribosomal_L20,prints_Ribosomal_L20,tigrfam_Ribosomal_L20 pfam_Ribosomal_L20,prints_Ribosomal_L20,tigrfam_Ribosomal_L20 - no_errors MRPL20 HGNC ENSG00000242485 22 0 0.00 25 2 7.41 MTCH2 0 genome.wustl.edu 37 11 47653238 47653238 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 11 47653238 47653238 G T SNP MTCH2 ENST00000302503 human ensembl 74_37 -1 known missense c.395 p.S132Y 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors MTCH2 HGNC ENSG00000109919 tier1 - - 41 0 0.00 70 4 5.41 MTRF1 0 genome.wustl.edu 37 13 41826879 41826879 + Missense_Mutation SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 13 41826879 41826879 C T SNP MTRF1 ENST00000430347 human ensembl 74_37 -1 known missense c.638 p.C213Y 1.000 pfam_PCRF,smart_PCRF pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1 HGNC ENSG00000120662 tier1 - - 45 0 0.00 15 39 70.91 MUC4 0 genome.wustl.edu 37 3 195506482 195506482 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 3 195506482 195506482 G T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.11969 p.T3990N 0.003 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 rs113936020 - 58 0 0.00 21 6 22.22 MYO16 0 genome.wustl.edu 37 13 109617123 109617124 + Frame_Shift_Ins INS - - T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 13 109617123 109617124 - T INS MYO16 ENST00000356711 human ensembl 74_37 +1 known frame_shift_ins c.2176_2177 p.R726fs 0.055:0.194 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 67 0 0.00 109 53 32.72 N4BP2 0 genome.wustl.edu 37 4 40104792 40104792 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 4 40104792 40104792 G T SNP N4BP2 ENST00000261435 human ensembl 74_37 +1 known missense c.1327 p.V443F 1.000 superfamily_P-loop_NTPase pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 39 0 0.00 62 4 6.06 NALCN 0 genome.wustl.edu 37 13 101755521 101755521 + Splice_Site SNP A A G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 13 101755521 101755521 A G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known splice_site c.3057+2 e25+2 1.000 - - - no_errors NALCN HGNC ENSG00000102452 tier1 - - 40 0 0.00 79 7 8.05 NAPSB 0 genome.wustl.edu 37 19 50839874 50839875 + RNA INS - - T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 19 50839874 50839875 - T INS NAPSB ENST00000527780 human ensembl 74_37 -1 known rna NULL NULL 0.957:0.960 - - - no_errors NAPSB HGNC ENSG00000131401 tier1 115 0 0.00 44 64 59.26 NCOA7 0 genome.wustl.edu 37 6 126176272 126176272 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 6 126176272 126176272 G T SNP NCOA7 ENST00000368357 human ensembl 74_37 +1 known missense c.157 p.D53Y 1.000 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 37 0 0.00 50 3 5.66 NFASC 0 genome.wustl.edu 37 1 204990510 204990510 + RNA SNP C C G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 204990510 204990510 C G SNP NFASC ENST00000495396 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NFASC HGNC ENSG00000163531 tier1 - - 53 0 0.00 64 5 7.25 NID1 0 genome.wustl.edu 37 1 236212189 236212189 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 236212189 236212189 G T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.326 p.A109E 0.977 smart_Nidogen_extracell_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 40 0 0.00 31 2 6.06 NPAS4 0 genome.wustl.edu 37 11 66190289 66190289 + Missense_Mutation SNP G G C TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 11 66190289 66190289 G C SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known missense c.575 p.C192S 1.000 NULL pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 tier1 - - 25 0 0.00 19 7 26.92 NTN4 0 genome.wustl.edu 37 12 96063915 96063915 + Nonsense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 12 96063915 96063915 G T SNP NTN4 ENST00000343702 human ensembl 74_37 -1 known nonsense c.1518 p.C506* 0.999 superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN4 HGNC ENSG00000074527 22 0 0.00 33 2 5.71 OGFRL1 0 genome.wustl.edu 37 6 72011135 72011135 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 6 72011135 72011135 G T SNP OGFRL1 ENST00000370435 human ensembl 74_37 +1 known missense c.739 p.G247C 1.000 pfam_OGF_rcpt pfam_OGF_rcpt - no_errors OGFRL1 HGNC ENSG00000119900 tier1 - - 44 0 0.00 55 4 6.78 OR2T2 0 genome.wustl.edu 37 1 248616883 248616883 + Missense_Mutation SNP T T A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 248616883 248616883 T A SNP OR2T2 ENST00000342927 human ensembl 74_37 +1 known missense c.785 p.L262Q 0.339 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 tier1 rs143551105 - 26 0 0.00 13 4 23.53 OR5C1 0 genome.wustl.edu 37 9 125552143 125552143 + Missense_Mutation SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 9 125552143 125552143 G A SNP OR5C1 ENST00000373680 human ensembl 74_37 +1 known missense c.932 p.R311Q 0.247 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5C1 HGNC ENSG00000148215 tier1 - - 27 0 0.00 22 14 38.89 PAFAH1B1 0 genome.wustl.edu 37 17 2587317 2587317 + RNA SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 17 2587317 2587317 G A SNP PAFAH1B1 ENST00000572915 human ensembl 74_37 +1 known rna NULL NULL 0.640 - - - no_errors PAFAH1B1 HGNC ENSG00000007168 tier1 - - 35 0 0.00 14 30 68.18 PARD3 0 genome.wustl.edu 37 10 34625163 34625163 + Nonsense_Mutation SNP C C A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 10 34625163 34625163 C A SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known nonsense c.2578 p.E860* 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 41 0 0.00 24 2 7.69 PCDHGB6 0 genome.wustl.edu 37 5 140789354 140789354 + Missense_Mutation SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 5 140789354 140789354 G A SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known missense c.1585 p.A529T 0.876 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 PCDHGB6 HGNC ENSG00000253305 tier1 - - 38 0 0.00 6 28 82.35 PCLO 0 genome.wustl.edu 37 7 82585187 82585187 + Silent SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 7 82585187 82585187 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.5082 p.D1694 0.995 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 25 0 0.00 28 15 34.88 PDDC1 0 genome.wustl.edu 37 11 770841 770841 + RNA SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 11 770841 770841 G T SNP PDDC1 ENST00000529966 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PDDC1 HGNC ENSG00000177225 tier1 - - 47 0 0.00 50 5 9.09 PEG3 0 genome.wustl.edu 37 19 57325172 57325172 + Silent SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 19 57325172 57325172 G T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known silent c.4638 p.I1546 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 31 0 0.00 44 3 6.38 PHLDB3 0 genome.wustl.edu 37 19 43999428 43999428 + Missense_Mutation SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 19 43999428 43999428 G A SNP PHLDB3 ENST00000292140 human ensembl 74_37 -1 known missense c.1015 p.P339S 0.381 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB3 HGNC ENSG00000176531 tier1 - - 58 0 0.00 31 4 11.43 PLSCR4 0 genome.wustl.edu 37 3 145912920 145912920 + Nonsense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 3 145912920 145912920 G T SNP PLSCR4 ENST00000354952 human ensembl 74_37 -1 known nonsense c.936 p.C312* 1.000 pfam_Scramblase pfam_Scramblase - no_errors PLSCR4 HGNC ENSG00000114698 tier1 - - 32 0 0.00 48 4 7.69 POM121L9P 0 genome.wustl.edu 37 22 24657660 24657660 + Splice_Site SNP G G C TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 22 24657660 24657660 G C SNP POM121L9P ENST00000414583 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.000 - - - no_errors POM121L9P HGNC ENSG00000128262 tier1 - - 84 0 0.00 32 30 47.62 PPM1E 0 genome.wustl.edu 37 17 57049601 57049601 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 17 57049601 57049601 G T SNP PPM1E ENST00000308249 human ensembl 74_37 +1 known missense c.1081 p.V361F 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1E HGNC ENSG00000175175 tier1 - - 52 0 0.00 56 4 6.67 PQLC1 0 genome.wustl.edu 37 18 77710831 77710831 + Silent SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 18 77710831 77710831 G T SNP PQLC1 ENST00000397778 human ensembl 74_37 -1 known silent c.96 p.P32 0.499 smart_CTNS smart_CTNS - no_errors PQLC1 HGNC ENSG00000122490 tier1 rs201497747 - 34 0 0.00 20 4 16.67 PRDX1 0 genome.wustl.edu 37 1 45977030 45977030 + Missense_Mutation SNP T T G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 45977030 45977030 T G SNP PRDX1 ENST00000262746 human ensembl 74_37 -1 known missense c.571 p.S191R 1.000 pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold - no_errors PRDX1 HGNC ENSG00000117450 tier1 - - 23 0 0.00 9 17 65.38 PRPF18 0 genome.wustl.edu 37 10 13672330 13672330 + Missense_Mutation SNP A A G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 10 13672330 13672330 A G SNP PRPF18 ENST00000378572 human ensembl 74_37 +1 known missense c.1019 p.N340S 1.000 NULL pfam_Prp18,pfam_PRP4-like,superfamily_Prp18,smart_SFM - no_errors PRPF18 HGNC ENSG00000165630 tier1 - - 61 0 0.00 37 27 42.19 PRR23A 0 genome.wustl.edu 37 3 138724446 138724446 + Missense_Mutation SNP A A G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 3 138724446 138724446 A G SNP PRR23A ENST00000383163 human ensembl 74_37 -1 known missense c.665 p.L222P 0.001 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23A HGNC ENSG00000206260 tier1 - - 124 0 0.00 105 32 23.19 PTPRZ1 0 genome.wustl.edu 37 7 121679506 121679506 + Splice_Site SNP A A C TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 7 121679506 121679506 A C SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known splice_site c.5503-2 e20-2 1.000 - - - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 - - 22 0 0.00 34 17 33.33 QSER1 0 genome.wustl.edu 37 11 32987900 32987900 + Missense_Mutation SNP A A G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 11 32987900 32987900 A G SNP QSER1 ENST00000399302 human ensembl 74_37 +1 known missense c.4637 p.K1546R 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 tier1 - - 71 0 0.00 59 20 25.32 RAB17 0 genome.wustl.edu 37 2 238485970 238485970 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 2 238485970 238485970 G T SNP RAB17 ENST00000264601 human ensembl 74_37 -1 known missense c.365 p.P122Q 0.065 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB17 HGNC ENSG00000124839 tier1 - - 22 0 0.00 24 4 14.29 RAB41 0 genome.wustl.edu 37 X 69503403 69503403 + Silent SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab X 69503403 69503403 C T SNP RAB41 ENST00000374473 human ensembl 74_37 +1 known silent c.384 p.H128 0.997 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB41 HGNC ENSG00000147127 15 0 0.00 35 4 10.26 RAD50 0 genome.wustl.edu 37 5 131931369 131931369 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 5 131931369 131931369 G T SNP RAD50 ENST00000265335 human ensembl 74_37 +1 known missense c.2074 p.A692S 1.000 pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes - no_errors RAD50 HGNC ENSG00000113522 tier1 - - 42 0 0.00 43 4 8.51 RFC1 0 genome.wustl.edu 37 4 39318600 39318600 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 4 39318600 39318600 G T SNP RFC1 ENST00000381897 human ensembl 74_37 -1 known missense c.1138 p.Q380K 0.998 superfamily_P-loop_NTPase,pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 tier1 - - 63 0 0.00 63 4 5.97 RGS17 0 genome.wustl.edu 37 6 153365046 153365046 + Missense_Mutation SNP G G C TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 6 153365046 153365046 G C SNP RGS17 ENST00000206262 human ensembl 74_37 -1 known missense c.108 p.C36W 1.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS17 HGNC ENSG00000091844 tier1 - - 35 0 0.00 13 11 45.83 RNF185 0 genome.wustl.edu 37 22 31556291 31556291 + Splice_Site SNP T T C TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 22 31556291 31556291 T C SNP RNF185 ENST00000326132 human ensembl 74_37 +1 known splice_site c.1+2 e0+2 0.930 - - - no_errors RNF185 HGNC ENSG00000138942 tier1 - - 17 0 0.00 3 7 70.00 RNF40 0 genome.wustl.edu 37 16 30779971 30779971 + Silent SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 16 30779971 30779971 C T SNP RNF40 ENST00000324685 human ensembl 74_37 +1 known silent c.2011 p.L671 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 tier1 - - 27 0 0.00 7 25 78.12 RNPC3 0 genome.wustl.edu 37 1 104076467 104076467 + Frame_Shift_Del DEL A A - TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 104076467 104076467 A - DEL RNPC3 ENST00000423855 human ensembl 74_37 +1 known frame_shift_del c.347 p.K119fs 0.784 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC ENSG00000185946 tier1 28 0 0.00 29 3 9.38 RYR3 0 genome.wustl.edu 37 15 34015021 34015021 + Missense_Mutation SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 15 34015021 34015021 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.6725 p.A2242V 0.995 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 45 0 0.00 43 4 8.33 RYR3 0 genome.wustl.edu 37 15 33955036 33955036 + Nonsense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 15 33955036 33955036 G T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known nonsense c.5305 p.E1769* 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 78 0 0.00 65 4 5.80 SALL4 0 genome.wustl.edu 37 20 50401201 50401201 + Missense_Mutation SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 20 50401201 50401201 G A SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known missense c.2765 p.A922V 0.968 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 tier1 - - 31 0 0.00 43 40 48.19 SH3RF1 0 genome.wustl.edu 37 4 170077739 170077741 + In_Frame_Del DEL ATG ATG - TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 ATG ATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 4 170077739 170077741 ATG - DEL SH3RF1 ENST00000284637 human ensembl 74_37 -1 known in_frame_del c.485_483 p.I162in_frame_del 1.000:1.000:1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC ENSG00000154447 tier1 36 0 0.00 32 36 52.94 SLC35F2 0 genome.wustl.edu 37 11 107663383 107663383 + Missense_Mutation SNP C C A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 11 107663383 107663383 C A SNP SLC35F2 ENST00000429869 human ensembl 74_37 -1 known missense c.1083 p.K361N 1.000 pfam_SLC35_F1/F2/F6 pfam_SLC35_F1/F2/F6,pfam_DMT,pfam_UAA,pfam_Tpt_PEP_trans_dom - no_errors SLC35F2 HGNC ENSG00000110660 tier1 - - 52 0 0.00 58 4 6.45 SLC52A3 0 genome.wustl.edu 37 20 744539 744539 + Missense_Mutation SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 20 744539 744539 G A SNP SLC52A3 ENST00000217254 human ensembl 74_37 -1 known missense c.676 p.L226F 0.999 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A3 HGNC ENSG00000101276 tier1 rs143511669 - 47 0 0.00 69 8 10.39 SMC1A 0 genome.wustl.edu 37 X 53409124 53409124 + RNA SNP C C A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab X 53409124 53409124 C A SNP SMC1A ENST00000469129 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors SMC1A HGNC ENSG00000072501 tier1 - - 34 0 0.00 38 4 9.52 SMG5 0 genome.wustl.edu 37 1 156231157 156231157 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 156231157 156231157 G T SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known missense c.2074 p.L692M 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 50 0 0.00 75 4 5.06 SNRNP25 0 genome.wustl.edu 37 16 105489 105489 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 16 105489 105489 G T SNP SNRNP25 ENST00000383018 human ensembl 74_37 +1 known missense c.100 p.A34S 1.000 NULL pfscan_Ubiquitin_supergroup - no_errors SNRNP25 HGNC ENSG00000161981 35 0 0.00 37 3 7.50 SOCS4 0 genome.wustl.edu 37 14 55509975 55509975 + Silent SNP A A C TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 14 55509975 55509975 A C SNP SOCS4 ENST00000339298 human ensembl 74_37 +1 known silent c.216 p.S72 0.956 pfam_SOCS pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC ENSG00000180008 tier1 - - 54 0 0.00 13 41 75.93 SP100 0 genome.wustl.edu 37 2 231367806 231367806 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 2 231367806 231367806 G T SNP SP100 ENST00000340126 human ensembl 74_37 +1 known missense c.1746 p.L582F 0.002 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 35 0 0.00 32 2 5.88 SPATA31D4 0 genome.wustl.edu 37 9 84547572 84547572 + RNA SNP C C A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 9 84547572 84547572 C A SNP SPATA31D4 ENST00000341875 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors SPATA31D4 HGNC ENSG00000189357 45 0 0.00 49 6 10.91 ST6GAL2 0 genome.wustl.edu 37 2 107423380 107423380 + Nonsense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 2 107423380 107423380 G T SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known nonsense c.1344 p.C448* 0.611 pfam_Glyco_trans_29 pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 tier1 - - 22 0 0.00 22 4 15.38 STAB1 0 genome.wustl.edu 37 3 52554457 52554457 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 3 52554457 52554457 G T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.5541 p.Q1847H 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 25 0 0.00 15 4 21.05 STMN3 0 genome.wustl.edu 37 20 62273557 62273557 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 20 62273557 62273557 G T SNP STMN3 ENST00000370053 human ensembl 74_37 -1 known missense c.387 p.S129R 1.000 pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam - no_errors STMN3 HGNC ENSG00000197457 51 0 0.00 70 4 5.41 STXBP3 0 genome.wustl.edu 37 1 109319002 109319002 + Missense_Mutation SNP A A G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 109319002 109319002 A G SNP STXBP3 ENST00000370008 human ensembl 74_37 +1 known missense c.641 p.K214R 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP3 HGNC ENSG00000116266 50 0 0.00 53 3 5.36 STYXL1 0 genome.wustl.edu 37 7 75659797 75659798 + Frame_Shift_Ins INS - - A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 7 75659797 75659798 - A INS STYXL1 ENST00000248600 human ensembl 74_37 -1 known frame_shift_ins c.45_44 p.L16fs 1.000:1.000 superfamily_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors STYXL1 HGNC ENSG00000127952 tier1 63 0 0.00 78 42 35.00 SUN1 0 genome.wustl.edu 37 7 889579 889579 + Missense_Mutation SNP G G C TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 7 889579 889579 G C SNP SUN1 ENST00000456758 human ensembl 74_37 +1 known missense c.1134 p.K378N 0.992 NULL pfam_SUN1,pfam_Sad1_UNC_C - no_errors SUN1 HGNC ENSG00000164828 tier1 - - 18 0 0.00 26 7 21.21 TACC1 0 genome.wustl.edu 37 8 38677795 38677795 + Missense_Mutation SNP C C G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 8 38677795 38677795 C G SNP TACC1 ENST00000379931 human ensembl 74_37 +1 known missense c.1033 p.L345V 0.606 NULL pfam_TACC - no_errors TACC1 HGNC ENSG00000147526 tier1 - - 53 0 0.00 67 31 31.63 TEC 0 genome.wustl.edu 37 4 48169925 48169925 + Nonsense_Mutation SNP C C A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 4 48169925 48169925 C A SNP TEC ENST00000381501 human ensembl 74_37 -1 known nonsense c.541 p.E181* 0.998 superfamily_SH3_domain,pfscan_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors TEC HGNC ENSG00000135605 31 0 0.00 34 2 5.56 THBS2 0 genome.wustl.edu 37 6 169648945 169648945 + Missense_Mutation SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 6 169648945 169648945 C T SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known missense c.176 p.R59H 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 tier1 - - 49 0 0.00 27 16 37.21 TPM3P9 0 genome.wustl.edu 37 19 53945817 53945817 + RNA SNP A A T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 19 53945817 53945817 A T SNP TPM3P9 ENST00000424846 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors TPM3P9 HGNC ENSG00000241015 tier1 - - 62 0 0.00 24 68 73.91 TSFM 0 genome.wustl.edu 37 12 58196399 58196399 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 12 58196399 58196399 G T SNP TSFM ENST00000543727 human ensembl 74_37 +1 known missense c.633 p.Q211H 0.000 NULL pfam_Transl_elong_EFTs/EF1B_dimer,pfam_UBA/Ts_N,superfamily_Transl_elong_EFTs/EF1B_dimer,superfamily_UBA-like - no_errors TSFM HGNC ENSG00000123297 tier1 - - 34 0 0.00 46 4 8.00 TSTA3 0 genome.wustl.edu 37 8 144696991 144696991 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 8 144696991 144696991 G T SNP TSTA3 ENST00000425753 human ensembl 74_37 -1 known missense c.356 p.P119H 1.000 pfam_Epimerase_deHydtase pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct - no_errors TSTA3 HGNC ENSG00000104522 42 0 0.00 69 4 5.41 TWF2 0 genome.wustl.edu 37 3 52265239 52265239 + Silent SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 3 52265239 52265239 G T SNP TWF2 ENST00000305533 human ensembl 74_37 -1 known silent c.387 p.L129 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors TWF2 HGNC ENSG00000247596 tier1 - - 79 0 0.00 82 5 5.75 UPF1 0 genome.wustl.edu 37 19 18968316 18968316 + Missense_Mutation SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 19 18968316 18968316 G A SNP UPF1 ENST00000599848 human ensembl 74_37 +1 known missense c.2189 p.G730D 1.000 superfamily_P-loop_NTPase pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase - no_errors UPF1 HGNC ENSG00000005007 62 0 0.00 56 4 6.45 USP48 0 genome.wustl.edu 37 1 22007546 22007546 + RNA SNP T T C TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 1 22007546 22007546 T C SNP USP48 ENST00000479177 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors USP48 HGNC ENSG00000090686 tier1 - - 15 0 0.00 5 17 77.27 USP6NL 0 genome.wustl.edu 37 10 11505102 11505102 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 10 11505102 11505102 G T SNP USP6NL ENST00000379237 human ensembl 74_37 -1 known missense c.1894 p.P632T 0.994 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors USP6NL HGNC ENSG00000148429 tier1 - - 94 0 0.00 62 4 6.06 UTRN 0 genome.wustl.edu 37 6 145156978 145156978 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 6 145156978 145156978 G T SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.9728 p.S3243I 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 62 0 0.00 50 3 5.66 VPS37C 0 genome.wustl.edu 37 11 60899899 60899899 + Missense_Mutation SNP T T G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 11 60899899 60899899 T G SNP VPS37C ENST00000301765 human ensembl 74_37 -1 known missense c.461 p.Q154P 1.000 NULL pfam_Mod_r - no_errors VPS37C HGNC ENSG00000167987 tier1 - - 54 0 0.00 54 6 10.00 WDR66 0 genome.wustl.edu 37 12 122361696 122361696 + Nonsense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 12 122361696 122361696 G T SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known nonsense c.547 p.E183* 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 tier1 - - 41 0 0.00 62 4 6.06 WRN 0 genome.wustl.edu 37 8 30922442 30922442 + Missense_Mutation SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 8 30922442 30922442 G A SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.367 p.G123R 1.000 pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 tier1 - - 78 0 0.00 34 32 48.48 YIPF5 0 genome.wustl.edu 37 5 143545145 143545145 + Nonsense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 5 143545145 143545145 G T SNP YIPF5 ENST00000274496 human ensembl 74_37 -1 known nonsense c.134 p.S45* 0.996 NULL pfam_Yip1 - no_errors YIPF5 HGNC ENSG00000145817 24 0 0.00 35 2 5.41 ZC3H7A 0 genome.wustl.edu 37 16 11861320 11861320 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 16 11861320 11861320 G T SNP ZC3H7A ENST00000355758 human ensembl 74_37 -1 known missense c.1475 p.P492Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ENSG00000122299 tier1 - - 34 0 0.00 34 4 10.53 ZFHX3 0 genome.wustl.edu 37 16 72993830 72993830 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 16 72993830 72993830 G T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.215 p.S72Y 0.996 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 tier1 - - 51 0 0.00 48 12 20.00 ZNF383 0 genome.wustl.edu 37 19 37721365 37721365 + Splice_Site SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 19 37721365 37721365 G T SNP ZNF383 ENST00000352998 human ensembl 74_37 +1 known splice_site c.9+1 e1+1 0.824 - - - no_errors ZNF383 HGNC ENSG00000188283 tier1 - - 34 0 0.00 33 4 10.81 ZNF528 0 genome.wustl.edu 37 19 52909833 52909833 + Nonsense_Mutation SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 19 52909833 52909833 C T SNP ZNF528 ENST00000360465 human ensembl 74_37 +1 known nonsense c.208 p.Q70* 0.000 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 ZNF528 HGNC ENSG00000167555 tier1 - - 66 0 0.00 59 4 6.35 ZNF546 0 genome.wustl.edu 37 19 40521651 40521651 + Missense_Mutation SNP G G T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 19 40521651 40521651 G T SNP ZNF546 ENST00000347077 human ensembl 74_37 +1 known missense c.2474 p.R825I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF546 HGNC ENSG00000187187 25 0 0.00 35 2 5.41 ZNF616 0 genome.wustl.edu 37 19 52618714 52618714 + Missense_Mutation SNP C C A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 19 52618714 52618714 C A SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known missense c.1703 p.R568L 0.042 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 ZNF616 HGNC ENSG00000204611 17 0 0.00 38 2 5.00 ZNHIT1 0 genome.wustl.edu 37 7 100861637 100861637 + RNA SNP C C T TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 7 100861637 100861637 C T SNP ZNHIT1 ENST00000461205 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNHIT1 HGNC ENSG00000106400 tier1 - - 16 0 0.00 8 6 42.86 ZW10 0 genome.wustl.edu 37 11 113631036 113631036 + Silent SNP A A G TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 735e3c66-d6fa-49f4-9606-625fd049b8a7 3607aeab-8869-4f79-98ea-8214dcbd16ab 11 113631036 113631036 A G SNP ZW10 ENST00000200135 human ensembl 74_37 -1 known silent c.475 p.L159 0.939 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 tier1 - - 32 0 0.00 21 12 36.36