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 AAK1 0 genome.wustl.edu 37 2 69757802 69757802 + Silent SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 69757802 69757802 G C SNP AAK1 ENST00000409085 human ensembl 74_37 -1 known silent c.693 p.V231 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AAK1 HGNC ENSG00000115977 tier1 - - 98 0 0.00 72 8 10.00 ABCA12 0 genome.wustl.edu 37 2 215815800 215815800 + Missense_Mutation SNP A A C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 215815800 215815800 A C SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.6655 p.F2219V 0.970 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 108 0 0.00 92 22 19.30 ABCA12 0 genome.wustl.edu 37 2 215865536 215865539 + Frame_Shift_Del DEL TAAA TAAA - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 TAAA TAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 215865536 215865539 TAAA - DEL ABCA12 ENST00000272895 human ensembl 74_37 -1 known frame_shift_del c.3072_3069 p.L1024fs 0.976:1.000:0.998:1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 144 0 0.00 133 18 11.92 ABL2 0 genome.wustl.edu 37 1 179087778 179087778 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 179087778 179087778 C T SNP ABL2 ENST00000502732 human ensembl 74_37 -1 known missense c.1167 p.M389I 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 tier1 - - 125 0 0.00 56 60 51.28 ADAMTS16 0 genome.wustl.edu 37 5 5232488 5232488 + Missense_Mutation SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 5 5232488 5232488 G A SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.1709 p.R570Q 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 tier1 - - 78 0 0.00 33 32 49.23 ADAMTSL4 0 genome.wustl.edu 37 1 150526868 150526868 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 150526868 150526868 C G SNP ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known missense c.1159 p.R387G 1.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 tier1 - - 88 0 0.00 30 31 50.82 ADIPOQ 0 genome.wustl.edu 37 3 186571982 186571982 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 3 186571982 186571982 G T SNP ADIPOQ ENST00000320741 human ensembl 74_37 +1 known missense c.224 p.G75V 1.000 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors ADIPOQ HGNC ENSG00000181092 tier1 - - 65 0 0.00 55 24 30.00 AGAP7 0 genome.wustl.edu 37 10 51465522 51465522 + Missense_Mutation SNP T T A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 10 51465522 51465522 T A SNP AGAP7 ENST00000374095 human ensembl 74_37 -1 known missense c.934 p.T312S 0.322 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP7 HGNC ENSG00000204169 tier1 - - 142 0 0.00 103 36 25.90 AJAP1 0 genome.wustl.edu 37 1 4829961 4829961 + Missense_Mutation SNP T T C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 4829961 4829961 T C SNP AJAP1 ENST00000378190 human ensembl 74_37 +1 known missense c.878 p.V293A 1.000 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 tier1 - - 200 0 0.00 120 13 9.70 AKR1B15 0 genome.wustl.edu 37 7 134252926 134252926 + Missense_Mutation SNP T T G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 7 134252926 134252926 T G SNP AKR1B15 ENST00000423958 human ensembl 74_37 +1 known missense c.83 p.V28G 0.996 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B15 HGNC ENSG00000227471 tier1 - - 72 0 0.00 28 17 37.78 ALK 0 genome.wustl.edu 37 2 30143013 30143013 + Silent SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 30143013 30143013 G A SNP ALK ENST00000389048 human ensembl 74_37 -1 known silent c.513 p.S171 0.982 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 tier1 - - 54 0 0.00 14 13 48.15 ALOX15 0 genome.wustl.edu 37 17 4536549 4536549 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 17 4536549 4536549 G T SNP ALOX15 ENST00000545513 human ensembl 74_37 -1 known missense c.1376 p.T459N 1.000 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15 HGNC ENSG00000161905 tier1 - - 54 0 0.00 27 8 22.86 AMY2B 0 genome.wustl.edu 37 1 104114338 104114338 + Missense_Mutation SNP T T A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 104114338 104114338 T A SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.114 p.D38E 0.989 superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 tier1 - - 409 0 0.00 285 39 12.04 ANO5 0 genome.wustl.edu 37 11 22257761 22257761 + Missense_Mutation SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 22257761 22257761 G A SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known missense c.701 p.R234K 0.997 NULL pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 tier1 - - 72 0 0.00 42 17 28.81 APBA2 0 genome.wustl.edu 37 15 29346923 29346923 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 15 29346923 29346923 C T SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known missense c.836 p.A279V 0.995 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 tier1 - - 36 0 0.00 17 8 32.00 APOA5 0 genome.wustl.edu 37 11 116662354 116662354 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 116662354 116662354 C A SNP APOA5 ENST00000227665 human ensembl 74_37 -1 known missense c.109 p.D37Y 0.411 NULL pfam_ApoA1_A4_E - no_errors APOA5 HGNC ENSG00000110243 tier1 - - 13 0 0.00 6 5 45.45 ARHGAP17 0 genome.wustl.edu 37 16 24955097 24955097 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 16 24955097 24955097 G C SNP ARHGAP17 ENST00000289968 human ensembl 74_37 -1 known missense c.1328 p.P443R 1.000 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 tier1 - - 61 0 0.00 34 16 32.00 ARHGEF26 0 genome.wustl.edu 37 3 153972596 153972596 + Missense_Mutation SNP A A G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 3 153972596 153972596 A G SNP ARHGEF26 ENST00000356448 human ensembl 74_37 +1 known missense c.2456 p.Y819C 0.984 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 tier1 - - 177 0 0.00 83 35 29.66 ARSI 0 genome.wustl.edu 37 5 149677472 149677472 + Missense_Mutation SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 5 149677472 149677472 G A SNP ARSI ENST00000328668 human ensembl 74_37 -1 known missense c.1015 p.R339W 0.156 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSI HGNC ENSG00000183876 tier1 rs149628658 - 68 0 0.00 12 18 60.00 ASPSCR1 0 genome.wustl.edu 37 17 79943427 79943427 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 17 79943427 79943427 C G SNP ASPSCR1 ENST00000306729 human ensembl 74_37 +1 known missense c.318 p.D106E 0.001 NULL pfam_TUG/UBX4,pfam_UBX,pfscan_UBX - no_errors ASPSCR1 HGNC ENSG00000169696 tier1 - - 91 0 0.00 31 8 20.51 ATP10A 0 genome.wustl.edu 37 15 25924926 25924926 + Silent SNP A A G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 15 25924926 25924926 A G SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known silent c.4062 p.S1354 0.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,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 ATP10A HGNC ENSG00000206190 tier1 - - 141 0 0.00 56 8 12.50 ATP10D 0 genome.wustl.edu 37 4 47570894 47570894 + Missense_Mutation SNP T T G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 4 47570894 47570894 T G SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known missense c.2894 p.L965R 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,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 ATP10D HGNC ENSG00000145246 tier1 - - 108 0 0.00 72 15 17.24 ATP2C1 0 genome.wustl.edu 37 3 130678129 130678132 + Frame_Shift_Del DEL GTTG GTTG - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 GTTG GTTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 3 130678129 130678132 GTTG - DEL ATP2C1 ENST00000393221 human ensembl 74_37 +1 known frame_shift_del c.945_948 p.V317fs 1.000:1.000:1.000:1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_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_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C1 HGNC ENSG00000017260 tier1 41 0 0.00 24 3 11.11 ATP6V1H 0 genome.wustl.edu 37 8 54742095 54742096 + Splice_Site INS - - A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 8 54742095 54742096 - A INS ATP6V1H ENST00000359530 human ensembl 74_37 -1 known splice_site_ins c.217-3_217-2 e3-2 0.998:0.112 - - - no_errors ATP6V1H HGNC ENSG00000047249 tier1 61 0 0.00 53 6 10.17 ATP8A1 0 genome.wustl.edu 37 4 42509136 42509136 + Missense_Mutation SNP A A T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 4 42509136 42509136 A T SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known missense c.1983 p.D661E 1.000 superfamily_HAD-like_dom,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 - - 165 0 0.00 90 37 29.13 ATP8B5P 0 genome.wustl.edu 37 9 35450009 35450009 + RNA SNP T T G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 9 35450009 35450009 T G SNP ATP8B5P ENST00000430846 human ensembl 74_37 +1 known rna NULL NULL 0.977 - - - no_errors ATP8B5P HGNC ENSG00000179766 tier1 - - 149 0 0.00 82 30 26.79 BBS12 0 genome.wustl.edu 37 4 123663197 123663197 + Silent SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 4 123663197 123663197 C T SNP BBS12 ENST00000314218 human ensembl 74_37 +1 known silent c.150 p.I50 0.780 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS12 HGNC ENSG00000181004 tier1 - - 101 0 0.00 43 18 29.51 BCL11A 0 genome.wustl.edu 37 2 60687594 60687594 + Missense_Mutation SNP T T G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 60687594 60687594 T G SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known missense c.2453 p.H818P 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 tier1 - - 141 0 0.00 64 29 31.18 C12orf5 0 genome.wustl.edu 37 12 4461650 4461650 + Missense_Mutation SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 12 4461650 4461650 G A SNP C12orf5 ENST00000179259 human ensembl 74_37 +1 known missense c.606 p.M202I 0.997 smart_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 - no_errors C12orf5 HGNC ENSG00000078237 tier1 - - 97 0 0.00 93 30 24.39 C5AR2 0 genome.wustl.edu 37 19 47844533 47844533 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 47844533 47844533 G T SNP C5AR2 ENST00000257267 human ensembl 74_37 +1 known missense c.477 p.W159C 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Anaphtx_C5AR1/C5AR2 - no_errors C5AR2 HGNC ENSG00000134830 tier1 - - 54 0 0.00 34 13 27.66 CABLES2 0 genome.wustl.edu 37 20 60966047 60966047 + Missense_Mutation SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 20 60966047 60966047 G A SNP CABLES2 ENST00000279101 human ensembl 74_37 -1 known missense c.1417 p.R473C 1.000 pirsf_Cdk5/c-Abl_linker_Cables pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables - no_errors CABLES2 HGNC ENSG00000149679 tier1 - - 72 0 0.00 36 41 53.25 CACNA1G 0 genome.wustl.edu 37 17 48681643 48681643 + Splice_Site SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 17 48681643 48681643 G C SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known splice_site c.4296+1 e22+1 1.000 - - - no_errors CACNA1G HGNC ENSG00000006283 tier1 - - 179 0 0.00 78 28 26.42 CAMTA1 0 genome.wustl.edu 37 1 7737777 7737777 + Silent SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 7737777 7737777 C T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known silent c.2898 p.D966 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 tier1 - - 88 0 0.00 53 10 15.87 CCDC6 0 genome.wustl.edu 37 10 61566727 61566727 + Nonsense_Mutation SNP A A T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 10 61566727 61566727 A T SNP CCDC6 ENST00000263102 human ensembl 74_37 -1 known nonsense c.957 p.C319* 1.000 pfam_DUF2046 pfam_DUF2046 - no_errors CCDC6 HGNC ENSG00000108091 tier1 - - 62 0 0.00 31 16 34.04 CD6 0 genome.wustl.edu 37 11 60777346 60777346 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 60777346 60777346 G T SNP CD6 ENST00000313421 human ensembl 74_37 +1 known missense c.1084 p.A362S 1.000 superfamily_Srcr_rcpt-rel pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD6 HGNC ENSG00000013725 tier1 - - 32 0 0.00 13 9 40.91 CDH16 0 genome.wustl.edu 37 16 66950203 66950203 + Nonsense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 16 66950203 66950203 C A SNP CDH16 ENST00000299752 human ensembl 74_37 -1 known nonsense c.259 p.E87* 0.996 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 tier1 - - 45 0 0.00 22 10 31.25 CDH9 0 genome.wustl.edu 37 5 26881474 26881474 + Missense_Mutation SNP T T C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 5 26881474 26881474 T C SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.2141 p.D714G 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 124 0 0.00 96 16 14.29 CDKN2A 0 genome.wustl.edu 37 9 21971113 21971113 + Missense_Mutation SNP A A T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 9 21971113 21971113 A T SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known missense c.245 p.V82E 0.999 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 tier1 - - 24 0 0.00 7 4 36.36 CEACAM3 0 genome.wustl.edu 37 19 42301599 42301599 + Missense_Mutation SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 42301599 42301599 G A SNP CEACAM3 ENST00000357396 human ensembl 74_37 +1 known missense c.143 p.G48E 0.009 pfam_Ig_V-set pfam_Ig_V-set - no_errors CEACAM3 HGNC ENSG00000170956 tier1 - - 162 0 0.00 103 44 29.93 CES1 0 genome.wustl.edu 37 16 55844440 55844440 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 16 55844440 55844440 C T SNP CES1 ENST00000360526 human ensembl 74_37 -1 known missense c.1307 p.R436Q 0.044 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 tier1 rs145088728 - 123 0 0.00 81 26 24.30 CHIT1 0 genome.wustl.edu 37 1 203188770 203188773 + RNA DEL GGGT GGGT - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 GGGT GGGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 203188770 203188773 GGGT - DEL CHIT1 ENST00000506427 human ensembl 74_37 -1 putative rna NULL NULL 0.033:0.027:0.011:0.000 - - - no_errors CHIT1 HGNC ENSG00000133063 tier1 127 0 0.00 104 23 18.11 CHRNA4 0 genome.wustl.edu 37 20 61982142 61982142 + Silent SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 20 61982142 61982142 G A SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known silent c.621 p.G207 0.197 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 tier1 rs149407396 - 95 0 0.00 80 18 18.37 CHRND 0 genome.wustl.edu 37 2 233398998 233398998 + Silent SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 233398998 233398998 G T SNP CHRND ENST00000258385 human ensembl 74_37 +1 known silent c.1317 p.V439 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRND HGNC ENSG00000135902 tier1 - - 90 0 0.00 77 6 7.23 CHST1 0 genome.wustl.edu 37 11 45671388 45671388 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 45671388 45671388 G T SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known missense c.1086 p.F362L 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 tier1 - - 116 0 0.00 82 27 24.77 CLNK 0 genome.wustl.edu 37 4 10566394 10566395 + Frame_Shift_Del DEL GT GT - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 4 10566394 10566395 GT - DEL CLNK ENST00000226951 human ensembl 74_37 -1 known frame_shift_del c.300_299 p.H100fs 0.993:0.992 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors CLNK HGNC ENSG00000109684 tier1 14 0 0.00 20 5 20.00 CLU 0 genome.wustl.edu 37 8 27472234 27472236 + In_Frame_Del DEL GGC GGC - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 8 27472234 27472236 GGC - DEL CLU ENST00000560366 human ensembl 74_37 -1 known in_frame_del c.65_63 p.P23in_frame_del 0.001:0.003:0.009 NULL pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLU HGNC ENSG00000120885 tier1 79 0 0.00 32 10 23.81 CMYA5 0 genome.wustl.edu 37 5 79030783 79030783 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 5 79030783 79030783 C G SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.6195 p.I2065M 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 100 0 0.00 69 24 25.81 CNOT1 0 genome.wustl.edu 37 16 58615341 58615341 + Missense_Mutation SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 16 58615341 58615341 G A SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.1123 p.H375Y 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 tier1 - - 55 0 0.00 39 16 29.09 CNTNAP5 0 genome.wustl.edu 37 2 125671722 125671722 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 125671722 125671722 C T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.3778 p.R1260W 0.925 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 rs201418873 - 140 0 0.00 75 14 15.73 COQ10B 0 genome.wustl.edu 37 2 198324691 198324691 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 198324691 198324691 C G SNP COQ10B ENST00000263960 human ensembl 74_37 +1 known missense c.140 p.T47S 0.996 NULL pfam_Polyket_cyc - no_errors COQ10B HGNC ENSG00000115520 tier1 - - 72 0 0.00 53 16 23.19 CR1 0 genome.wustl.edu 37 1 207796356 207796358 + In_Frame_Del DEL TCT TCT - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 207796356 207796358 TCT - DEL CR1 ENST00000367049 human ensembl 74_37 +1 known in_frame_del c.7295_7297 p.F2434in_frame_del 0.000:0.000:0.000 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 tier1 8 0 0.00 10 4 28.57 CRIP1 0 genome.wustl.edu 37 14 105954589 105954590 + Frame_Shift_Del DEL CA CA - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 14 105954589 105954590 CA - DEL CRIP1 ENST00000330233 human ensembl 74_37 +1 known frame_shift_del c.127_128 p.H43fs 0.995:0.996 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CRIP1 HGNC ENSG00000213145 tier1 88 0 0.00 27 8 22.86 CRIP1 0 genome.wustl.edu 37 14 105954592 105954592 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 14 105954592 105954592 G T SNP CRIP1 ENST00000330233 human ensembl 74_37 +1 known missense c.130 p.A44S 0.993 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CRIP1 HGNC ENSG00000213145 tier1 - - 91 0 0.00 27 8 22.86 CRLF3 0 genome.wustl.edu 37 17 29120654 29120654 + Nonsense_Mutation SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 17 29120654 29120654 G A SNP CRLF3 ENST00000324238 human ensembl 74_37 -1 known nonsense c.640 p.Q214* 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF3 HGNC ENSG00000176390 tier1 - - 54 0 0.00 69 15 17.86 CRMP1 0 genome.wustl.edu 37 4 5843043 5843043 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 4 5843043 5843043 C T SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known missense c.1145 p.R382K 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 tier1 - - 252 0 0.00 119 43 26.54 CUX1 0 genome.wustl.edu 37 7 101926374 101926374 + Missense_Mutation SNP T T G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 7 101926374 101926374 T G SNP CUX1 ENST00000292538 human ensembl 74_37 +1 known missense c.2029 p.W677G 1.000 NULL pfam_CASP_C,superfamily_LemA-like_dom - no_errors CUX1 HGNC ENSG00000257923 tier1 - - 34 0 0.00 20 9 31.03 CUX2 0 genome.wustl.edu 37 12 111744747 111744747 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 12 111744747 111744747 G C SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.881 p.C294S 1.000 superfamily_Prefoldin pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 tier1 - - 146 0 0.00 45 20 30.77 CXCL16 0 genome.wustl.edu 37 17 4642180 4642182 + In_Frame_Del DEL AAC AAC - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 17 4642180 4642182 AAC - DEL CXCL16 ENST00000293778 human ensembl 74_37 -1 known in_frame_del c.172_170 p.C57in_frame_del 0.001:0.148:0.480 NULL NULL - no_errors CXCL16 HGNC ENSG00000161921 tier1 80 0 0.00 32 14 30.43 DCAF8 0 genome.wustl.edu 37 1 160250017 160250018 + Frame_Shift_Del DEL CT CT - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 160250017 160250018 CT - DEL DCAF8 ENST00000608310 human ensembl 74_37 -1 known frame_shift_del c.173_172 p.H59fs 0.996:0.995 pfam_Pex19 pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8 HGNC ENSG00000132716 tier1 212 0 0.00 138 96 41.03 DDX26B 0 genome.wustl.edu 37 X 134709086 134709086 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 X 134709086 134709086 G C SNP DDX26B ENST00000370752 human ensembl 74_37 +1 known missense c.1708 p.E570Q 1.000 NULL pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 tier1 - - 88 0 0.00 30 37 55.22 DGUOK 0 genome.wustl.edu 37 2 74154140 74154140 + Missense_Mutation SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 74154140 74154140 G A SNP DGUOK ENST00000264093 human ensembl 74_37 +1 known missense c.103 p.G35R 0.768 NULL pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase - no_errors DGUOK HGNC ENSG00000114956 tier1 - - 62 0 0.00 49 11 18.33 DIP2C 0 genome.wustl.edu 37 10 409196 409196 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 10 409196 409196 C T SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known missense c.2533 p.E845K 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 tier1 - - 53 0 0.00 13 8 38.10 DNAH1 0 genome.wustl.edu 37 3 52387396 52387396 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 3 52387396 52387396 C A SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.3227 p.A1076D 1.000 pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 tier1 - - 97 0 0.00 29 16 35.56 DNAH11 0 genome.wustl.edu 37 7 21646303 21646303 + Nonsense_Mutation SNP T T A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 7 21646303 21646303 T A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known nonsense c.3804 p.Y1268* 0.006 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 DNAH11 HGNC ENSG00000105877 tier1 - - 22 0 0.00 17 8 32.00 DNAH17 0 genome.wustl.edu 37 17 76492113 76492113 + Missense_Mutation SNP A A C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 17 76492113 76492113 A C SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.5705 p.V1902G 0.998 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 tier1 - - 48 0 0.00 29 20 40.00 DOCK2 0 genome.wustl.edu 37 5 169141089 169141089 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 5 169141089 169141089 C A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.1717 p.H573N 0.539 NULL 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 - - 88 0 0.00 46 14 23.33 DPF1 0 genome.wustl.edu 37 19 38706825 38706827 + In_Frame_Del DEL CCG CCG - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 CCG CCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 38706825 38706827 CCG - DEL DPF1 ENST00000355526 human ensembl 74_37 -1 known in_frame_del c.934_932 p.TG311in_frame_delR 1.000:0.129:0.997 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF1 HGNC ENSG00000011332 tier1 65 0 0.00 35 9 20.45 DSCAM 0 genome.wustl.edu 37 21 41450876 41450876 + Silent SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 21 41450876 41450876 C G SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known silent c.4449 p.L1483 0.785 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 - - 28 0 0.00 20 5 20.00 DST 0 genome.wustl.edu 37 6 56469456 56469456 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 6 56469456 56469456 C G SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.9871 p.E3291Q 0.001 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 162 0 0.00 62 27 30.00 DST 0 genome.wustl.edu 37 6 56472510 56472510 + Nonsense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 6 56472510 56472510 C A SNP DST ENST00000370754 human ensembl 74_37 -1 known nonsense c.6817 p.E2273* 0.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 107 0 0.00 72 16 18.18 DST 0 genome.wustl.edu 37 6 56472570 56472570 + Nonsense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 6 56472570 56472570 C A SNP DST ENST00000370754 human ensembl 74_37 -1 known nonsense c.6757 p.E2253* 0.313 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 162 0 0.00 83 25 23.15 ECE2 0 genome.wustl.edu 37 3 184008857 184008857 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 3 184008857 184008857 C T SNP ECE2 ENST00000402825 human ensembl 74_37 +1 known missense c.2218 p.R740W 1.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 tier1 - - 112 0 0.00 58 36 38.30 EIF2D 0 genome.wustl.edu 37 1 206767100 206767100 + Missense_Mutation SNP A A G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 206767100 206767100 A G SNP EIF2D ENST00000271764 human ensembl 74_37 -1 known missense c.1552 p.Y518H 0.000 pfam_TIF_SUI1,superfamily_TIF_SUI1,pfscan_TIF_SUI1 pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1 - no_errors EIF2D HGNC ENSG00000143486 tier1 - - 37 0 0.00 32 7 17.95 ELAC1 0 genome.wustl.edu 37 18 48510469 48510469 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 18 48510469 48510469 G C SNP ELAC1 ENST00000269466 human ensembl 74_37 +1 known missense c.161 p.R54T 1.000 pfam_Beta-lactamas-like,tigrfam_RNase_Z pfam_Beta-lactamas-like,tigrfam_RNase_Z - no_errors ELAC1 HGNC ENSG00000141642 tier1 - - 63 0 0.00 26 15 36.59 ELAVL4 0 genome.wustl.edu 37 1 50666501 50666501 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 50666501 50666501 C T SNP ELAVL4 ENST00000371821 human ensembl 74_37 +1 known missense c.809 p.P270L 1.000 tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL4 HGNC ENSG00000162374 tier1 - - 144 0 0.00 92 13 12.38 ELMOD2 0 genome.wustl.edu 37 4 141448653 141448653 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 4 141448653 141448653 G C SNP ELMOD2 ENST00000511887 human ensembl 74_37 +1 putative missense c.176 p.G59A 0.989 NULL NULL - no_errors ELMOD2 HGNC ENSG00000179387 tier1 - - 80 0 0.00 45 12 21.05 EMILIN2 0 genome.wustl.edu 37 18 2892084 2892084 + Silent SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 18 2892084 2892084 G A SNP EMILIN2 ENST00000254528 human ensembl 74_37 +1 known silent c.1959 p.V653 0.001 NULL pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 tier1 - - 81 0 0.00 48 12 20.00 EML1 0 genome.wustl.edu 37 14 100381014 100381014 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 14 100381014 100381014 G T SNP EML1 ENST00000334192 human ensembl 74_37 +1 known missense c.1789 p.V597F 0.992 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 tier1 - - 35 0 0.00 12 13 52.00 EML2 0 genome.wustl.edu 37 19 46124882 46124882 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 46124882 46124882 G C SNP EML2 ENST00000587152 human ensembl 74_37 -1 known missense c.1458 p.I486M 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML2 HGNC ENSG00000125746 27 0 0.00 13 3 18.75 ENPEP 0 genome.wustl.edu 37 4 111397844 111397844 + Nonsense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 4 111397844 111397844 C T SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known nonsense c.274 p.R92* 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 tier1 - - 96 0 0.00 42 19 31.15 ENSG00000262420 0 genome.wustl.edu 37 16 11836614 11836616 + RNA DEL CCG CCG - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 CCG CCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 16 11836614 11836616 CCG - DEL ENSG00000262420 ENST00000572811 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.998:1.000 - - - no_errors RP11-490O6.2 Clone_based_vega_gene ENSG00000262420 tier1 21 0 0.00 12 2 14.29 EPS8 0 genome.wustl.edu 37 12 15823802 15823802 + Missense_Mutation SNP T T C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 12 15823802 15823802 T C SNP EPS8 ENST00000536956 human ensembl 74_37 -1 known missense c.115 p.I39V 1.000 NULL NULL - no_errors EPS8 HGNC ENSG00000151491 tier1 - - 96 0 0.00 53 20 27.40 FAM179B 0 genome.wustl.edu 37 14 45513968 45513968 + Missense_Mutation SNP A A T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 14 45513968 45513968 A T SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known missense c.4049 p.E1350V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 tier1 - - 76 0 0.00 54 14 20.59 FAT3 0 genome.wustl.edu 37 11 92534447 92534447 + Silent SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 92534447 92534447 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.8268 p.F2756 0.981 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 45 0 0.00 13 11 45.83 FBXO38 0 genome.wustl.edu 37 5 147807156 147807157 + Frame_Shift_Ins INS - - A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 5 147807156 147807157 - A INS FBXO38 ENST00000340253 human ensembl 74_37 +1 known frame_shift_ins c.2299_2300 p.D767fs 1.000:1.000 NULL superfamily_F-box_dom - no_errors FBXO38 HGNC ENSG00000145868 tier1 56 0 0.00 15 2 11.76 FLJ45139 0 genome.wustl.edu 37 21 40250361 40250362 + RNA INS - - A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 21 40250361 40250362 - A INS FLJ45139 ENST00000380931 human ensembl 74_37 -1 known rna NULL NULL 0.011:0.001 - - - no_errors AF064858.6 Clone_based_vega_gene ENSG00000205622 tier1 14 0 0.00 5 6 54.55 FOXK1 0 genome.wustl.edu 37 7 4796712 4796712 + Nonsense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 7 4796712 4796712 C T SNP FOXK1 ENST00000328914 human ensembl 74_37 +1 known nonsense c.1138 p.R380* 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK1 HGNC ENSG00000164916 tier1 - - 135 0 0.00 99 17 14.66 FREM1 0 genome.wustl.edu 37 9 14824960 14824960 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 9 14824960 14824960 C A SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.1915 p.D639Y 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 tier1 - - 60 0 0.00 20 8 28.57 FRG1 0 genome.wustl.edu 37 4 190882130 190882130 + RNA SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 4 190882130 190882130 G A SNP FRG1 ENST00000514482 human ensembl 74_37 +1 known rna NULL NULL 0.225 - - - no_errors FRG1 HGNC ENSG00000109536 tier1 - - 10 0 0.00 7 5 41.67 FRY 0 genome.wustl.edu 37 13 32752543 32752543 + Missense_Mutation SNP T T G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 13 32752543 32752543 T G SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.2651 p.L884R 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 tier1 - - 127 0 0.00 95 5 5.00 GABBR1 0 genome.wustl.edu 37 6 29574902 29574902 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 6 29574902 29574902 C G SNP GABBR1 ENST00000377034 human ensembl 74_37 -1 known missense c.2086 p.E696Q 1.000 pfam_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 tier1 - - 81 0 0.00 38 24 38.71 GABBR2 0 genome.wustl.edu 37 9 101065630 101065630 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 9 101065630 101065630 C G SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known missense c.2305 p.E769Q 1.000 prints_GPCR_3_GABA_rcpt_B2 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 tier1 - - 93 0 0.00 73 6 7.59 GJB1 0 genome.wustl.edu 37 X 70443566 70443566 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 X 70443566 70443566 G C SNP GJB1 ENST00000361726 human ensembl 74_37 +1 known missense c.9 p.W3C 1.000 pfam_Connexin_N,prints_Connexin32 pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin32 - no_errors GJB1 HGNC ENSG00000169562 tier1 - - 52 0 0.00 22 13 37.14 GML 0 genome.wustl.edu 37 8 143927988 143927988 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 8 143927988 143927988 G T SNP GML ENST00000220940 human ensembl 74_37 +1 known missense c.359 p.R120M 0.032 smart_LY6_UPA_recep-like smart_LY6_UPA_recep-like - no_errors GML HGNC ENSG00000104499 tier1 - - 129 0 0.00 75 22 22.68 GNRH1 0 genome.wustl.edu 37 8 25276964 25276964 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 8 25276964 25276964 C G SNP GNRH1 ENST00000276414 human ensembl 74_37 -1 known missense c.250 p.E84Q 1.000 prints_Gonadoliberin_I_precursor pfam_GnRH,prints_Gonadoliberin_I_precursor - no_errors GNRH1 HGNC ENSG00000147437 tier1 - - 90 0 0.00 20 12 37.50 GOLGA6A 0 genome.wustl.edu 37 15 74364618 74364618 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 15 74364618 74364618 C T SNP GOLGA6A ENST00000290438 human ensembl 74_37 -1 known missense c.1534 p.E512K 0.952 NULL NULL - no_errors GOLGA6A HGNC ENSG00000159289 tier1 - - 130 0 0.00 70 14 16.67 GPAT2 0 genome.wustl.edu 37 2 96691727 96691727 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 96691727 96691727 C A SNP GPAT2 ENST00000359548 human ensembl 74_37 -1 known missense c.1189 p.G397C 0.085 NULL smart_Plipid/glycerol_acylTrfase - no_errors GPAT2 HGNC ENSG00000186281 tier1 - - 47 0 0.00 35 12 25.53 GPR110 0 genome.wustl.edu 37 6 46988486 46988486 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 6 46988486 46988486 C A SNP GPR110 ENST00000371253 human ensembl 74_37 -1 known missense c.592 p.V198F 0.080 pfam_SEA_dom pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC ENSG00000153292 tier1 - - 76 0 0.00 25 15 37.50 GPR12 0 genome.wustl.edu 37 13 27333356 27333356 + Silent SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 13 27333356 27333356 C T SNP GPR12 ENST00000381436 human ensembl 74_37 -1 known silent c.609 p.S203 0.364 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn - no_errors GPR12 HGNC ENSG00000132975 tier1 - - 50 0 0.00 31 12 27.91 GPR125 0 genome.wustl.edu 37 4 22446673 22446673 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 4 22446673 22446673 C G SNP GPR125 ENST00000334304 human ensembl 74_37 -1 known missense c.629 p.R210P 1.000 smart_Cys-rich_flank_reg_C pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 tier1 - - 73 0 0.00 30 17 36.17 GRK4 0 genome.wustl.edu 37 4 3015478 3015478 + Missense_Mutation SNP A A G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 4 3015478 3015478 A G SNP GRK4 ENST00000398052 human ensembl 74_37 +1 known missense c.664 p.R222G 0.983 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK4 HGNC ENSG00000125388 tier1 - - 178 0 0.00 115 45 28.12 GUF1 0 genome.wustl.edu 37 4 44691984 44691984 + Silent SNP T T C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 4 44691984 44691984 T C SNP GUF1 ENST00000281543 human ensembl 74_37 +1 known silent c.1327 p.L443 1.000 tigrfam_EF-4 pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_P-loop_NTPase,superfamily_EFG_III-V,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom - no_errors GUF1 HGNC ENSG00000151806 tier1 - - 78 0 0.00 38 19 33.33 HBS1L 0 genome.wustl.edu 37 6 135317944 135317944 + Silent SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 6 135317944 135317944 G A SNP HBS1L ENST00000367837 human ensembl 74_37 -1 known silent c.936 p.V312 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_HBS1-like_N,pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors HBS1L HGNC ENSG00000112339 tier1 - - 201 0 0.00 109 36 24.83 HEXIM1 0 genome.wustl.edu 37 17 43227133 43227133 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 17 43227133 43227133 G C SNP HEXIM1 ENST00000332499 human ensembl 74_37 +1 known missense c.576 p.E192D 1.000 NULL NULL - no_errors HEXIM1 HGNC ENSG00000186834 tier1 - - 124 0 0.00 62 16 20.51 HIST3H2BB 0 genome.wustl.edu 37 1 228646202 228646202 + Silent SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 228646202 228646202 C T SNP HIST3H2BB ENST00000369160 human ensembl 74_37 +1 known silent c.372 p.S124 1.000 superfamily_Histone-fold,smart_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST3H2BB HGNC ENSG00000196890 tier1 - - 83 0 0.00 88 22 19.82 HMGA2 0 genome.wustl.edu 37 12 66357040 66357041 + Frame_Shift_Del DEL AC AC - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 12 66357040 66357041 AC - DEL HMGA2 ENST00000403681 human ensembl 74_37 +1 known frame_shift_del c.298_299 p.T100fs 1.000:1.000 prints_HMGI/HMGY pfam_AT_hook_DNA-bd_motif,smart_AT_hook_DNA-bd_motif,prints_HMGI/HMGY,prints_AT_hook-like - no_errors HMGA2 HGNC ENSG00000149948 tier1 48 0 0.00 16 6 27.27 HMOX1 0 genome.wustl.edu 37 22 35779128 35779128 + Missense_Mutation SNP A A C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 22 35779128 35779128 A C SNP HMOX1 ENST00000216117 human ensembl 74_37 +1 known missense c.53 p.K18T 1.000 pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase - no_errors HMOX1 HGNC ENSG00000100292 tier1 - - 65 0 0.00 28 18 39.13 HOXA5 0 genome.wustl.edu 37 7 27182761 27182761 + Missense_Mutation SNP T T G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 7 27182761 27182761 T G SNP HOXA5 ENST00000222726 human ensembl 74_37 -1 known missense c.466 p.S156R 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA5 HGNC ENSG00000106004 tier1 - - 194 0 0.00 69 23 25.00 HYDIN 0 genome.wustl.edu 37 16 70906012 70906012 + Silent SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 16 70906012 70906012 G T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.11019 p.V3673 0.978 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 30 0 0.00 26 8 23.53 IGSF10 0 genome.wustl.edu 37 3 151171441 151171441 + Missense_Mutation SNP A A G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 3 151171441 151171441 A G SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.446 p.F149S 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 tier1 - - 153 0 0.00 91 49 35.00 IL10RA 0 genome.wustl.edu 37 11 117869669 117869669 + Silent SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 117869669 117869669 C T SNP IL10RA ENST00000227752 human ensembl 74_37 +1 known silent c.1050 p.N350 0.000 NULL superfamily_Fibronectin_type3 - no_errors IL10RA HGNC ENSG00000110324 tier1 - - 57 0 0.00 17 12 41.38 IL11RA 0 genome.wustl.edu 37 9 34657512 34657512 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 9 34657512 34657512 C T SNP IL11RA ENST00000318041 human ensembl 74_37 +1 known missense c.574 p.R192W 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IL11RA HGNC ENSG00000137070 tier1 - - 56 0 0.00 30 11 26.83 IL12RB2 0 genome.wustl.edu 37 1 67795384 67795384 + Missense_Mutation SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 67795384 67795384 G A SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known missense c.779 p.R260Q 0.438 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 tier1 - - 127 0 0.00 54 16 22.86 IPCEF1 0 genome.wustl.edu 37 6 154533918 154533918 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 6 154533918 154533918 G C SNP IPCEF1 ENST00000367220 human ensembl 74_37 -1 known missense c.523 p.Q175E 0.001 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors IPCEF1 HGNC ENSG00000074706 tier1 - - 49 0 0.00 29 11 27.50 IPO5 0 genome.wustl.edu 37 13 98655156 98655159 + Frame_Shift_Del DEL CAAT CAAT - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 CAAT CAAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 13 98655156 98655159 CAAT - DEL IPO5 ENST00000261574 human ensembl 74_37 +1 known frame_shift_del c.1416_1419 p.Q474fs 0.993:1.000:1.000:1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 tier1 41 0 0.00 27 13 32.50 IRX2 0 genome.wustl.edu 37 5 2749119 2749119 + Nonsense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 5 2749119 2749119 C A SNP IRX2 ENST00000302057 human ensembl 74_37 -1 known nonsense c.703 p.E235* 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX2 HGNC ENSG00000170561 tier1 - - 75 0 0.00 30 25 45.45 ITGB3BP 0 genome.wustl.edu 37 1 63912467 63912467 + RNA SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 63912467 63912467 G A SNP ITGB3BP ENST00000478538 human ensembl 74_37 -1 putative rna NULL NULL 0.015 - - - no_errors ITGB3BP HGNC ENSG00000142856 tier1 - - 49 0 0.00 37 13 26.00 IZUMO2 0 genome.wustl.edu 37 19 50657929 50657929 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 50657929 50657929 C A SNP IZUMO2 ENST00000293405 human ensembl 74_37 -1 known missense c.551 p.R184M 0.000 NULL NULL - no_errors IZUMO2 HGNC ENSG00000161652 tier1 - - 105 0 0.00 65 21 24.42 KBTBD3 0 genome.wustl.edu 37 11 105924369 105924369 + Silent SNP A A G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 105924369 105924369 A G SNP KBTBD3 ENST00000526793 human ensembl 74_37 -1 known silent c.1047 p.G349 0.668 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD3 HGNC ENSG00000182359 tier1 rs145327190 - 78 0 0.00 31 19 38.00 KCNA6 0 genome.wustl.edu 37 12 4919521 4919521 + Missense_Mutation SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 12 4919521 4919521 G A SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known missense c.314 p.R105H 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 tier1 - - 117 0 0.00 67 44 39.64 KCNAB1 0 genome.wustl.edu 37 3 155838601 155838601 + Silent SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 3 155838601 155838601 G A SNP KCNAB1 ENST00000490337 human ensembl 74_37 +1 known silent c.201 p.E67 1.000 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC ENSG00000169282 tier1 - - 55 0 0.00 31 12 27.91 KCNC2 0 genome.wustl.edu 37 12 75436988 75436988 + Missense_Mutation SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 12 75436988 75436988 G A SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known missense c.1814 p.A605V 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 tier1 - - 71 0 0.00 41 23 35.94 KCNJ1 0 genome.wustl.edu 37 11 128709089 128709089 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 128709089 128709089 C T SNP KCNJ1 ENST00000392664 human ensembl 74_37 -1 known missense c.1107 p.M369I 0.156 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ1 HGNC ENSG00000151704 tier1 - - 99 0 0.00 49 18 26.87 KCNV1 0 genome.wustl.edu 37 8 110984844 110984844 + Missense_Mutation SNP A A C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 8 110984844 110984844 A C SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.634 p.F212V 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv4 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 tier1 - - 72 0 0.00 52 14 21.21 KDM2A 0 genome.wustl.edu 37 11 67017744 67017744 + Missense_Mutation SNP A A G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 67017744 67017744 A G SNP KDM2A ENST00000529006 human ensembl 74_37 +1 known missense c.2243 p.H748R 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 tier1 - - 54 0 0.00 25 8 24.24 KIF1B 0 genome.wustl.edu 37 1 10407834 10407834 + Silent SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 10407834 10407834 G C SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known silent c.3675 p.V1225 0.993 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 tier1 - - 109 0 0.00 103 21 16.94 KIF20B 0 genome.wustl.edu 37 10 91465059 91465059 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 10 91465059 91465059 C G SNP KIF20B ENST00000416354 human ensembl 74_37 +1 known missense c.8 p.S3C 0.996 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 tier1 - - 122 0 0.00 71 9 11.25 KIF26A 0 genome.wustl.edu 37 14 104633344 104633344 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 14 104633344 104633344 G T SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known missense c.1072 p.A358S 1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 tier1 - - 25 0 0.00 2 7 77.78 KLHL40 0 genome.wustl.edu 37 3 42730382 42730382 + Nonsense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 3 42730382 42730382 C A SNP KLHL40 ENST00000287777 human ensembl 74_37 +1 known nonsense c.1443 p.C481* 0.159 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL40 HGNC ENSG00000157119 tier1 - - 69 0 0.00 19 14 42.42 KRT35 0 genome.wustl.edu 37 17 39633417 39633417 + Missense_Mutation SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 17 39633417 39633417 G A SNP KRT35 ENST00000393989 human ensembl 74_37 -1 known missense c.1259 p.S420F 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC ENSG00000197079 tier1 - - 64 0 0.00 40 18 31.03 LCE2D 0 genome.wustl.edu 37 1 152636819 152636819 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 152636819 152636819 C G SNP LCE2D ENST00000368784 human ensembl 74_37 +1 known missense c.238 p.L80V 0.000 NULL NULL - no_errors LCE2D HGNC ENSG00000187223 tier1 - - 200 0 0.00 131 36 21.56 LDLRAP1 0 genome.wustl.edu 37 1 25880537 25880537 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 25880537 25880537 C G SNP LDLRAP1 ENST00000374338 human ensembl 74_37 +1 known missense c.213 p.I71M 1.000 pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors LDLRAP1 HGNC ENSG00000157978 tier1 - - 76 0 0.00 20 15 42.86 LILRA4 0 genome.wustl.edu 37 19 54849264 54849264 + Missense_Mutation SNP T T A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 54849264 54849264 T A SNP LILRA4 ENST00000291759 human ensembl 74_37 -1 known missense c.598 p.N200Y 0.004 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA4 HGNC ENSG00000239961 tier1 - - 61 0 0.00 56 10 15.15 LILRA6 0 genome.wustl.edu 37 19 54744329 54744329 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 54744329 54744329 C T SNP LILRA6 ENST00000419410 human ensembl 74_37 -1 known missense c.1079 p.G360E 0.442 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRA6 HGNC ENSG00000244482 tier1 - - 154 0 0.00 102 19 15.70 LILRB3 0 genome.wustl.edu 37 19 54721042 54721042 + Missense_Mutation SNP T T C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 54721042 54721042 T C SNP LILRB3 ENST00000407860 human ensembl 74_37 -1 known missense c.1867 p.K623E 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB3 HGNC ENSG00000204577 88 0 0.00 59 4 6.35 LIN54 0 genome.wustl.edu 37 4 83852119 83852119 + Silent SNP T T A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 4 83852119 83852119 T A SNP LIN54 ENST00000340417 human ensembl 74_37 -1 known silent c.2025 p.P675 0.000 NULL pfam_CRC - no_errors LIN54 HGNC ENSG00000189308 tier1 rs147498582 - 148 0 0.00 111 14 11.20 LOC101929532 0 genome.wustl.edu 37 2 163029266 163029266 + RNA SNP T T C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 163029266 163029266 T C SNP LOC101929532 ENST00000418968 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC007750.5 Clone_based_vega_gene ENSG00000236841 tier1 - - 32 0 0.00 10 9 47.37 LPAL2 0 genome.wustl.edu 37 6 160905150 160905150 + RNA SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 6 160905150 160905150 C T SNP LPAL2 ENST00000335388 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LPAL2 HGNC ENSG00000213071 tier1 - - 129 0 0.00 64 19 22.89 LRAT 0 genome.wustl.edu 37 4 155665616 155665616 + Silent SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 4 155665616 155665616 C T SNP LRAT ENST00000336356 human ensembl 74_37 +1 known silent c.138 p.H46 0.443 NULL pfam_LRAT-like_dom - no_errors LRAT HGNC ENSG00000121207 tier1 - - 107 0 0.00 29 12 29.27 LRMP 0 genome.wustl.edu 37 12 25260796 25260796 + Silent SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 12 25260796 25260796 C T SNP LRMP ENST00000354454 human ensembl 74_37 +1 known silent c.1302 p.I434 0.005 pfam_MRVI1 pfam_MRVI1 - no_errors LRMP HGNC ENSG00000118308 tier1 - - 106 0 0.00 52 27 34.18 LRP12 0 genome.wustl.edu 37 8 105509516 105509516 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 8 105509516 105509516 G C SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1207 p.R403G 0.957 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 110 0 0.00 69 29 29.00 LRP12 0 genome.wustl.edu 37 8 105509517 105509517 + Silent SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 8 105509517 105509517 G T SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known silent c.1206 p.S402 0.771 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 108 0 0.00 71 30 29.70 LRRC19 0 genome.wustl.edu 37 9 26995660 26995660 + Silent SNP T T C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 9 26995660 26995660 T C SNP LRRC19 ENST00000380055 human ensembl 74_37 -1 known silent c.972 p.P324 0.788 NULL smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC19 HGNC ENSG00000184434 tier1 - - 135 0 0.00 31 29 48.33 LYST 0 genome.wustl.edu 37 1 235907346 235907346 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 235907346 235907346 G C SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.8084 p.S2695C 0.870 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 tier1 - - 131 0 0.00 99 55 35.71 MAEL 0 genome.wustl.edu 37 1 166974793 166974794 + RNA DEL TT TT - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 166974793 166974794 TT - DEL MAEL ENST00000487826 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors MAEL HGNC ENSG00000143194 tier1 8 0 0.00 4 4 50.00 MAP4K4 0 genome.wustl.edu 37 2 102504259 102504259 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 102504259 102504259 C A SNP MAP4K4 ENST00000324219 human ensembl 74_37 +1 known missense c.3599 p.P1200H 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K4 HGNC ENSG00000071054 tier1 - - 82 0 0.00 49 11 18.33 MAPT 0 genome.wustl.edu 37 17 44071328 44071328 + Frame_Shift_Del DEL C C - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 17 44071328 44071328 C - DEL MAPT ENST00000344290 human ensembl 74_37 +1 known frame_shift_del c.1546 p.R517fs 0.061 NULL pfam_MAP_tubulin-bd_rpt,prints_Tau - no_errors MAPT HGNC ENSG00000186868 tier1 15 0 0.00 4 2 33.33 MARK4 0 genome.wustl.edu 37 19 45767970 45767970 + Silent SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 45767970 45767970 G A SNP MARK4 ENST00000262891 human ensembl 74_37 +1 known silent c.384 p.E128 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK4 HGNC ENSG00000007047 tier1 - - 159 0 0.00 75 33 30.56 MAS1 0 genome.wustl.edu 37 6 160328010 160328010 + Nonsense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 6 160328010 160328010 C A SNP MAS1 ENST00000252660 human ensembl 74_37 +1 known nonsense c.23 p.S8* 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas,prints_GPCR_Rhodpsn - no_errors MAS1 HGNC ENSG00000130368 tier1 - - 99 0 0.00 46 20 29.85 MCTP1 0 genome.wustl.edu 37 5 94204156 94204156 + Missense_Mutation SNP A A G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 5 94204156 94204156 A G SNP MCTP1 ENST00000515393 human ensembl 74_37 -1 known missense c.2318 p.L773P 1.000 NULL pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom - no_errors MCTP1 HGNC ENSG00000175471 tier1 - - 42 0 0.00 31 11 26.19 MCTP1 0 genome.wustl.edu 37 5 94288955 94288955 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 5 94288955 94288955 C A SNP MCTP1 ENST00000515393 human ensembl 74_37 -1 known missense c.949 p.V317F 0.999 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom - no_errors MCTP1 HGNC ENSG00000175471 tier1 - - 57 0 0.00 43 12 21.82 MFSD8 0 genome.wustl.edu 37 4 128865023 128865023 + Missense_Mutation SNP A A G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 4 128865023 128865023 A G SNP MFSD8 ENST00000296468 human ensembl 74_37 -1 known missense c.323 p.I108T 0.041 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD8 HGNC ENSG00000164073 tier1 - - 99 0 0.00 66 26 28.26 MID1IP1 0 genome.wustl.edu 37 X 38664502 38664502 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 X 38664502 38664502 C G SNP MID1IP1 ENST00000336949 human ensembl 74_37 +1 known missense c.303 p.I101M 1.000 pfam_Spot_14 pfam_Spot_14 - no_errors MID1IP1 HGNC ENSG00000165175 tier1 - - 36 0 0.00 15 13 46.43 MINK1 0 genome.wustl.edu 37 17 4789915 4789915 + Frame_Shift_Del DEL G G - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 17 4789915 4789915 G - DEL MINK1 ENST00000355280 human ensembl 74_37 +1 known frame_shift_del c.943 p.E315fs 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MINK1 HGNC ENSG00000141503 tier1 29 0 0.00 5 7 58.33 MIR106B 0 genome.wustl.edu 37 7 99691692 99691692 + RNA SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 7 99691692 99691692 G A SNP MIR106B ENST00000385301 human ensembl 74_37 -1 known rna NULL NULL 0.100 - - - no_errors MIR106B HGNC ENSG00000208036 tier1 - - 36 0 0.00 19 5 20.83 MIR587 0 genome.wustl.edu 37 6 107232051 107232051 + RNA SNP T T C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 6 107232051 107232051 T C SNP MIR587 ENST00000384845 human ensembl 74_37 +1 known rna NULL NULL 0.061 - - - no_errors MIR587 HGNC ENSG00000207577 tier1 - - 105 0 0.00 28 19 40.43 MMEL1 0 genome.wustl.edu 37 1 2526271 2526271 + Missense_Mutation SNP T T A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 2526271 2526271 T A SNP MMEL1 ENST00000378412 human ensembl 74_37 -1 known missense c.1646 p.Q549L 0.998 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 tier1 - - 157 0 0.00 76 34 30.91 MUC16 0 genome.wustl.edu 37 19 9009598 9009598 + Missense_Mutation SNP A A G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 9009598 9009598 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.39128 p.L13043P 0.065 pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 191 0 0.00 94 25 20.83 MYH11 0 genome.wustl.edu 37 16 15797744 15797744 + RNA SNP A A C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 16 15797744 15797744 A C SNP MYH11 ENST00000573908 human ensembl 74_37 -1 putative rna NULL NULL 0.122 - - - no_errors MYH11 HGNC ENSG00000133392 tier1 - - 34 0 0.00 26 11 29.73 MYL7 0 genome.wustl.edu 37 7 44179066 44179066 + Silent SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 7 44179066 44179066 G A SNP MYL7 ENST00000446581 human ensembl 74_37 -1 novel silent c.261 p.F87 0.000 NULL pfscan_EF_hand_dom - no_errors MYL7 HGNC ENSG00000106631 tier1 - - 103 0 0.00 43 20 31.75 MYO6 0 genome.wustl.edu 37 6 76602399 76602399 + Silent SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 6 76602399 76602399 G T SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known silent c.3099 p.A1033 0.001 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 tier1 - - 33 0 0.00 21 7 25.00 MYOM1 0 genome.wustl.edu 37 18 3187531 3187533 + In_Frame_Del DEL CTC CTC - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 18 3187531 3187533 CTC - DEL MYOM1 ENST00000356443 human ensembl 74_37 -1 known in_frame_del c.876_874 p.E292in_frame_del 1.000:1.000:0.999 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 tier1 115 0 0.00 81 20 19.80 MYT1L 0 genome.wustl.edu 37 2 1914023 1914023 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 1914023 1914023 G T SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.1806 p.D602E 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 39 0 0.00 13 5 27.78 NCKAP5 0 genome.wustl.edu 37 2 133542035 133542035 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 133542035 133542035 C G SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.2349 p.Q783H 0.191 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 tier1 - - 153 0 0.00 107 28 20.74 NDUFAF7 0 genome.wustl.edu 37 2 37474657 37474657 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 37474657 37474657 C A SNP NDUFAF7 ENST00000002125 human ensembl 74_37 +1 known missense c.995 p.T332K 1.000 pfam_MidA pfam_MidA - no_errors NDUFAF7 HGNC ENSG00000003509 tier1 - - 118 0 0.00 77 23 23.00 NFE2L2 0 genome.wustl.edu 37 2 178095977 178095977 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 178095977 178095977 C T SNP NFE2L2 ENST00000397062 human ensembl 74_37 -1 known missense c.1354 p.A452T 1.000 superfamily_TF_DNA-bd pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 tier1 - - 221 0 0.00 156 50 24.27 NID1 0 genome.wustl.edu 37 1 236195819 236195819 + Silent SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 236195819 236195819 G A SNP NID1 ENST00000264187 human ensembl 74_37 -1 known silent c.1419 p.I473 1.000 pfam_G2_nidogen/fibulin_G2F,superfamily_GFP,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F 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 tier1 - - 78 0 0.00 66 15 18.52 NIPBL 0 genome.wustl.edu 37 5 36986275 36986275 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 5 36986275 36986275 G C SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.2993 p.G998A 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 tier1 - - 194 0 0.00 165 46 21.80 NLRP14 0 genome.wustl.edu 37 11 7071005 7071005 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 7071005 7071005 G T SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known missense c.2227 p.D743Y 0.022 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC ENSG00000158077 tier1 - - 210 0 0.00 81 48 37.21 NOL4 0 genome.wustl.edu 37 18 31599567 31599567 + Splice_Site SNP T T G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 18 31599567 31599567 T G SNP NOL4 ENST00000261592 human ensembl 74_37 -1 known splice_site c.773-2 e6-2 1.000 - - - no_errors NOL4 HGNC ENSG00000101746 tier1 - - 109 0 0.00 28 22 44.00 NPAP1 0 genome.wustl.edu 37 15 24921476 24921476 + Silent SNP A A G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 15 24921476 24921476 A G SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known silent c.462 p.Q154 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 - - 36 0 0.00 19 8 29.63 NUMA1 0 genome.wustl.edu 37 11 71729976 71729976 + Missense_Mutation SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 71729976 71729976 G A SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.635 p.P212L 1.000 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 tier1 - - 138 0 0.00 88 26 22.81 OCA2 0 genome.wustl.edu 37 15 28273038 28273038 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 15 28273038 28273038 C T SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.494 p.R165Q 0.000 NULL pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 tier1 - - 66 0 0.00 23 12 34.29 OPHN1 0 genome.wustl.edu 37 X 67652722 67652722 + Silent SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 X 67652722 67652722 G A SNP OPHN1 ENST00000355520 human ensembl 74_37 -1 known silent c.141 p.I47 0.999 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 tier1 - - 21 0 0.00 12 7 36.84 OR10K2 0 genome.wustl.edu 37 1 158390021 158390021 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 158390021 158390021 C A SNP OR10K2 ENST00000314902 human ensembl 74_37 -1 known missense c.636 p.L212F 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K2 HGNC ENSG00000180708 tier1 - - 72 0 0.00 45 9 16.67 OR2L13 0 genome.wustl.edu 37 1 248262919 248262919 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 248262919 248262919 C T SNP OR2L13 ENST00000358120 human ensembl 74_37 +1 known missense c.242 p.A81V 0.025 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 OR2L13 HGNC ENSG00000196071 tier1 - - 154 0 0.00 176 33 15.71 OR52B2 0 genome.wustl.edu 37 11 6190876 6190876 + Silent SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 6190876 6190876 C A SNP OR52B2 ENST00000530810 human ensembl 74_37 -1 known silent c.681 p.V227 0.071 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 OR52B2 HGNC ENSG00000255307 tier1 - - 39 0 0.00 23 5 17.86 OR52W1 0 genome.wustl.edu 37 11 6221179 6221179 + Silent SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 6221179 6221179 C A SNP OR52W1 ENST00000311352 human ensembl 74_37 +1 known silent c.726 p.A242 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52W1 HGNC ENSG00000175485 tier1 - - 208 0 0.00 124 29 18.95 OR5L1 0 genome.wustl.edu 37 11 55579185 55579185 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 55579185 55579185 G T SNP OR5L1 ENST00000333973 human ensembl 74_37 +1 known missense c.243 p.M81I 0.067 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC ENSG00000186117 tier1 - - 231 0 0.00 107 55 33.74 OR5P3 0 genome.wustl.edu 37 11 7847089 7847090 + Frame_Shift_Del DEL AA AA - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 7847089 7847090 AA - DEL OR5P3 ENST00000328375 human ensembl 74_37 -1 known frame_shift_del c.431_430 p.L144fs 0.006:0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5P3 HGNC ENSG00000182334 tier1 74 0 0.00 36 5 12.20 OR5P3 0 genome.wustl.edu 37 11 7847091 7847092 + Frame_Shift_Ins INS - - C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 7847091 7847092 - C INS OR5P3 ENST00000328375 human ensembl 74_37 -1 known frame_shift_ins c.429_428 p.I143fs 0.000:0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5P3 HGNC ENSG00000182334 tier1 75 0 0.00 36 5 12.20 OSBP2 0 genome.wustl.edu 37 22 31285562 31285562 + Missense_Mutation SNP T T A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 22 31285562 31285562 T A SNP OSBP2 ENST00000332585 human ensembl 74_37 +1 known missense c.1562 p.L521H 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP2 HGNC ENSG00000184792 tier1 - - 193 0 0.00 94 38 28.57 PALB2 0 genome.wustl.edu 37 16 23640533 23640533 + Nonsense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 16 23640533 23640533 C A SNP PALB2 ENST00000261584 human ensembl 74_37 -1 known nonsense c.2578 p.E860* 0.998 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 tier1 - - 50 0 0.00 51 18 26.09 PAN2 0 genome.wustl.edu 37 12 56726848 56726848 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 12 56726848 56726848 C G SNP PAN2 ENST00000425394 human ensembl 74_37 -1 known missense c.31 p.A11P 1.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67 - no_errors PAN2 HGNC ENSG00000135473 tier1 - - 56 0 0.00 14 11 44.00 PARP4 0 genome.wustl.edu 37 13 25066690 25066690 + Silent SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 13 25066690 25066690 G A SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known silent c.922 p.L308 0.701 superfamily_Poly(ADP-ribose)pol_reg_dom,pfscan_Poly(ADP-ribose)pol_reg_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 tier1 - - 128 0 0.00 56 29 34.12 PARPBP 0 genome.wustl.edu 37 12 102589958 102589958 + Silent SNP A A G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 12 102589958 102589958 A G SNP PARPBP ENST00000358383 human ensembl 74_37 +1 known silent c.1629 p.S543 0.008 NULL superfamily_P-loop_NTPase - no_errors PARPBP HGNC ENSG00000185480 tier1 - - 94 0 0.00 15 15 50.00 PCSK4 0 genome.wustl.edu 37 19 1487143 1487143 + Frame_Shift_Del DEL G G - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 1487143 1487143 G - DEL PCSK4 ENST00000300954 human ensembl 74_37 -1 known frame_shift_del c.852 p.K285fs 0.979 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK4 HGNC ENSG00000115257 tier1 51 0 0.00 17 2 10.53 PCYT1B 0 genome.wustl.edu 37 X 24580207 24580207 + Missense_Mutation SNP A A T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 X 24580207 24580207 A T SNP PCYT1B ENST00000356768 human ensembl 74_37 -1 known missense c.988 p.F330I 0.007 NULL pfam_Cyt_trans-like,tigrfam_Cyt_trans-like - no_errors PCYT1B HGNC ENSG00000102230 tier1 - - 30 0 0.00 7 6 46.15 PDGFC 0 genome.wustl.edu 37 4 157693880 157693880 + Nonsense_Mutation SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 4 157693880 157693880 G A SNP PDGFC ENST00000502773 human ensembl 74_37 -1 known nonsense c.661 p.Q221* 1.000 NULL pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,smart_PDGF/VEGF_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFC HGNC ENSG00000145431 tier1 - - 82 0 0.00 32 4 11.11 PELO 0 genome.wustl.edu 37 5 52096369 52096372 + Frame_Shift_Del DEL ACAG ACAG - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 ACAG ACAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 5 52096369 52096372 ACAG - DEL PELO ENST00000274311 human ensembl 74_37 +1 known frame_shift_del c.141_144 p.T49fs 0.533:1.000:1.000:1.000 pfam_eRF1_1_Pelota,tigrfam_Transl_rel_pelota-like pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like - no_errors PELO HGNC ENSG00000152684 tier1 48 0 0.00 19 10 34.48 PGD 0 genome.wustl.edu 37 1 10477123 10477123 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 10477123 10477123 G T SNP PGD ENST00000270776 human ensembl 74_37 +1 known missense c.924 p.Q308H 0.010 pfam_6PGDH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox - no_errors PGD HGNC ENSG00000142657 tier1 - - 111 0 0.00 109 11 9.17 PGM2L1 0 genome.wustl.edu 37 11 74047715 74047715 + Silent SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 74047715 74047715 C G SNP PGM2L1 ENST00000298198 human ensembl 74_37 -1 known silent c.1851 p.L617 1.000 NULL pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III - no_errors PGM2L1 HGNC ENSG00000165434 tier1 - - 75 0 0.00 44 11 20.00 PGPEP1 0 genome.wustl.edu 37 19 18474288 18474288 + Missense_Mutation SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 18474288 18474288 G A SNP PGPEP1 ENST00000604499 human ensembl 74_37 +1 putative missense c.485 p.R162H 0.000 NULL pfam_Peptidase_C15,superfamily_Peptidase_C15-like,prints_Peptidase_C15 - no_errors PGPEP1 HGNC ENSG00000130517 tier1 rs147373225 - 25 0 0.00 4 4 50.00 PHF23 0 genome.wustl.edu 37 17 7140063 7140063 + Silent SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 17 7140063 7140063 G A SNP PHF23 ENST00000320316 human ensembl 74_37 -1 known silent c.183 p.G61 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF23 HGNC ENSG00000040633 tier1 - - 89 0 0.00 28 29 50.88 PHF23 0 genome.wustl.edu 37 17 7140065 7140065 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 17 7140065 7140065 C A SNP PHF23 ENST00000320316 human ensembl 74_37 -1 known missense c.181 p.G61C 0.991 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF23 HGNC ENSG00000040633 tier1 - - 89 0 0.00 27 27 50.00 PHF3 0 genome.wustl.edu 37 6 64422120 64422120 + Frame_Shift_Del DEL G G - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 6 64422120 64422120 G - DEL PHF3 ENST00000262043 human ensembl 74_37 +1 known frame_shift_del c.4636 p.S1547fs 0.010 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 tier1 97 0 0.00 61 13 17.57 PLD2 0 genome.wustl.edu 37 17 4720275 4720275 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 17 4720275 4720275 C A SNP PLD2 ENST00000263088 human ensembl 74_37 +1 known missense c.1626 p.D542E 0.779 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 tier1 - - 83 0 0.00 39 11 22.00 PLD3 0 genome.wustl.edu 37 19 40882516 40882516 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 40882516 40882516 G T SNP PLD3 ENST00000356508 human ensembl 74_37 +1 known missense c.1020 p.R340S 1.000 NULL pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD3 HGNC ENSG00000105223 tier1 - - 99 0 0.00 61 19 23.75 PLEKHA4 0 genome.wustl.edu 37 19 49362173 49362173 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 49362173 49362173 C A SNP PLEKHA4 ENST00000263265 human ensembl 74_37 -1 known missense c.916 p.G306W 0.775 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 tier1 - - 126 0 0.00 66 35 34.65 PLIN4 0 genome.wustl.edu 37 19 4510955 4510955 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 4510955 4510955 C A SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel missense c.2975 p.S992I 0.000 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 tier1 - - 74 0 0.00 42 16 27.59 PLK1 0 genome.wustl.edu 37 16 23700572 23700572 + Nonsense_Mutation SNP T T A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 16 23700572 23700572 T A SNP PLK1 ENST00000300093 human ensembl 74_37 +1 known nonsense c.1284 p.C428* 0.991 pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom pfam_Prot_kinase_dom,pfam_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK1 HGNC ENSG00000166851 tier1 - - 100 0 0.00 63 6 8.70 PODN 0 genome.wustl.edu 37 1 53537183 53537183 + RNA SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 53537183 53537183 C T SNP PODN ENST00000471210 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PODN HGNC ENSG00000174348 tier1 - - 24 0 0.00 5 4 44.44 POSTN 0 genome.wustl.edu 37 13 38159011 38159011 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 13 38159011 38159011 C G SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.950 p.G317A 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 tier1 - - 71 0 0.00 54 13 19.40 POU4F1 0 genome.wustl.edu 37 13 79175718 79175718 + Silent SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 13 79175718 79175718 C T SNP POU4F1 ENST00000377208 human ensembl 74_37 -1 known silent c.1092 p.A364 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F1 HGNC ENSG00000152192 tier1 - - 73 0 0.00 38 19 33.33 PPEF2 0 genome.wustl.edu 37 4 76805842 76805842 + Silent SNP T T A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 4 76805842 76805842 T A SNP PPEF2 ENST00000286719 human ensembl 74_37 -1 known silent c.651 p.V217 0.024 pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom - no_errors PPEF2 HGNC ENSG00000156194 tier1 - - 246 0 0.00 149 62 29.38 PRG4 0 genome.wustl.edu 37 1 186277676 186277676 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 186277676 186277676 C G SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.2825 p.A942G 0.008 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 tier1 - - 137 0 0.00 77 25 24.51 PTPRO 0 genome.wustl.edu 37 12 15637124 15637124 + Missense_Mutation SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 12 15637124 15637124 G A SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known missense c.292 p.V98I 0.997 superfamily_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 tier1 - - 99 0 0.00 45 17 27.42 PTPRT 0 genome.wustl.edu 37 20 40727175 40727175 + Silent SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 20 40727175 40727175 G A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known silent c.3789 p.A1263 0.029 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 61 0 0.00 53 6 10.17 QSOX2 0 genome.wustl.edu 37 9 139118635 139118635 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 9 139118635 139118635 G C SNP QSOX2 ENST00000358701 human ensembl 74_37 -1 known missense c.414 p.F138L 0.999 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX2 HGNC ENSG00000165661 tier1 - - 129 0 0.00 48 27 36.00 RABGAP1L 0 genome.wustl.edu 37 1 174188349 174188349 + Silent SNP T T G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 174188349 174188349 T G SNP RABGAP1L ENST00000251507 human ensembl 74_37 +1 known silent c.54 p.A18 0.018 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 tier1 - - 69 0 0.00 32 29 47.54 RAPGEF4 0 genome.wustl.edu 37 2 173883459 173883459 + Missense_Mutation SNP T T C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 173883459 173883459 T C SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known missense c.2084 p.V695A 1.000 pfam_Ras-assoc,superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 tier1 - - 86 0 0.00 62 21 25.30 RASA2 0 genome.wustl.edu 37 3 141289902 141289902 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 3 141289902 141289902 G C SNP RASA2 ENST00000452898 human ensembl 74_37 +1 known missense c.1012 p.D338H 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_RasGAP,pfam_C2_dom,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC ENSG00000155903 tier1 - - 63 0 0.00 32 16 33.33 RBM4B 0 genome.wustl.edu 37 11 66436703 66436703 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 66436703 66436703 C G SNP RBM4B ENST00000310046 human ensembl 74_37 -1 known missense c.472 p.D158H 1.000 NULL pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4B HGNC ENSG00000173914 tier1 - - 74 0 0.00 39 21 34.43 RCOR3 0 genome.wustl.edu 37 1 211486765 211486765 + Splice_Site SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 211486765 211486765 G C SNP RCOR3 ENST00000367005 human ensembl 74_37 +1 known splice_site c.1144-1 e11-1 1.000 - - - no_errors RCOR3 HGNC ENSG00000117625 tier1 - - 27 0 0.00 15 9 37.50 RFPL2 0 genome.wustl.edu 37 22 32586771 32586771 + Silent SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 22 32586771 32586771 C A SNP RFPL2 ENST00000400237 human ensembl 74_37 -1 known silent c.1125 p.G375 0.001 NULL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors RFPL2 HGNC ENSG00000128253 tier1 - - 196 0 0.00 88 38 30.16 RGS4 0 genome.wustl.edu 37 1 163042342 163042342 + RNA SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 163042342 163042342 G T SNP RGS4 ENST00000491263 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RGS4 HGNC ENSG00000117152 tier1 - - 24 0 0.00 14 17 54.84 RHBG 0 genome.wustl.edu 37 1 156351951 156351951 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 156351951 156351951 C A SNP RHBG ENST00000537040 human ensembl 74_37 +1 known missense c.569 p.S190Y 0.977 NULL pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom - no_errors RHBG HGNC ENSG00000132677 tier1 - - 127 0 0.00 114 35 23.49 RNF44 0 genome.wustl.edu 37 5 175956306 175956306 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 5 175956306 175956306 C A SNP RNF44 ENST00000274811 human ensembl 74_37 -1 known missense c.1219 p.V407F 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF44 HGNC ENSG00000146083 tier1 - - 57 0 0.00 21 11 33.33 ROBO1 0 genome.wustl.edu 37 3 78701045 78701045 + Missense_Mutation SNP T T G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 3 78701045 78701045 T G SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.2649 p.Q883H 0.963 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 tier1 - - 119 0 0.00 58 5 7.94 RP1L1 0 genome.wustl.edu 37 8 10469415 10469415 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 8 10469415 10469415 G T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.2193 p.D731E 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 65 0 0.00 33 4 10.81 RUSC2 0 genome.wustl.edu 37 9 35546690 35546690 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 9 35546690 35546690 G C SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known missense c.172 p.D58H 1.000 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 tier1 - - 46 0 0.00 26 11 29.73 RYR2 0 genome.wustl.edu 37 1 237777617 237777617 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 237777617 237777617 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.5183 p.T1728M 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 38 0 0.00 25 23 47.92 SATB2 0 genome.wustl.edu 37 2 200298164 200298164 + Silent SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 200298164 200298164 G A SNP SATB2 ENST00000260926 human ensembl 74_37 -1 known silent c.243 p.H81 0.571 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 tier1 - - 148 0 0.00 93 15 13.76 SCAP 0 genome.wustl.edu 37 3 47467586 47467586 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 3 47467586 47467586 G T SNP SCAP ENST00000265565 human ensembl 74_37 -1 known missense c.811 p.L271M 1.000 NULL pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SCAP HGNC ENSG00000114650 tier1 - - 58 0 0.00 4 6 60.00 SCN10A 0 genome.wustl.edu 37 3 38739228 38739228 + Missense_Mutation SNP T T G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 3 38739228 38739228 T G SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.5483 p.K1828T 0.998 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 tier1 - - 84 0 0.00 31 14 30.43 SCN8A 0 genome.wustl.edu 37 12 52183161 52183161 + Missense_Mutation SNP A A T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 12 52183161 52183161 A T SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known missense c.4378 p.I1460F 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 tier1 - - 88 0 0.00 26 20 43.48 SDK1 0 genome.wustl.edu 37 7 4007033 4007033 + Frame_Shift_Del DEL G G - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 7 4007033 4007033 G - DEL SDK1 ENST00000404826 human ensembl 74_37 +1 known frame_shift_del c.1513 p.A506fs 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 102 0 0.00 61 21 25.61 SETDB2 0 genome.wustl.edu 37 13 50056987 50056987 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 13 50056987 50056987 G T SNP SETDB2 ENST00000317257 human ensembl 74_37 +1 known missense c.1307 p.C436F 0.664 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom - no_errors SETDB2 HGNC ENSG00000136169 tier1 - - 50 0 0.00 43 15 25.86 SKIV2L 0 genome.wustl.edu 37 6 31929356 31929356 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 6 31929356 31929356 C T SNP SKIV2L ENST00000461073 human ensembl 74_37 +1 known missense c.631 p.P211S 0.029 NULL NULL - no_errors SKIV2L HGNC ENSG00000204351 tier1 - - 103 0 0.00 19 51 72.86 SLC12A8 0 genome.wustl.edu 37 3 124826632 124826632 + Silent SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 3 124826632 124826632 G T SNP SLC12A8 ENST00000423114 human ensembl 74_37 -1 known silent c.1485 p.L495 0.994 NULL pfam_AA-permease/SLC12A_dom,superfamily_ABC1_TM_dom - no_errors SLC12A8 HGNC ENSG00000221955 tier1 - - 110 0 0.00 44 14 24.14 SLC22A25 0 genome.wustl.edu 37 11 62996917 62996917 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 62996917 62996917 C T SNP SLC22A25 ENST00000306494 human ensembl 74_37 -1 known missense c.208 p.D70N 0.009 pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A25 HGNC ENSG00000196600 tier1 - - 92 0 0.00 58 31 34.83 SLC26A11 0 genome.wustl.edu 37 17 78199674 78199674 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 17 78199674 78199674 C A SNP SLC26A11 ENST00000361193 human ensembl 74_37 +1 known missense c.552 p.F184L 1.000 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A11 HGNC ENSG00000181045 tier1 - - 115 0 0.00 69 33 32.35 SLC26A4 0 genome.wustl.edu 37 7 107323652 107323652 + Silent SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 7 107323652 107323652 G T SNP SLC26A4 ENST00000265715 human ensembl 74_37 +1 known silent c.771 p.L257 0.198 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 tier1 - - 80 0 0.00 44 15 25.42 SLC2A7 0 genome.wustl.edu 37 1 9078424 9078424 + Silent SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 9078424 9078424 G A SNP SLC2A7 ENST00000400906 human ensembl 74_37 -1 known silent c.447 p.Y149 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A7 HGNC ENSG00000197241 tier1 - - 25 0 0.00 33 6 15.38 SLC30A8 0 genome.wustl.edu 37 8 118170071 118170071 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 8 118170071 118170071 C T SNP SLC30A8 ENST00000456015 human ensembl 74_37 +1 known missense c.560 p.A187V 0.946 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A8 HGNC ENSG00000164756 tier1 rs141202988 - 104 0 0.00 65 44 40.00 SLC44A5 0 genome.wustl.edu 37 1 75862266 75862266 + Splice_Site SNP A A G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 75862266 75862266 A G SNP SLC44A5 ENST00000370855 human ensembl 74_37 -1 known splice_site c.52+2 e2+2 1.000 - - - no_errors SLC44A5 HGNC ENSG00000137968 tier1 - - 169 0 0.00 45 42 48.28 SLC7A11 0 genome.wustl.edu 37 4 139153455 139153455 + Silent SNP T T C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 4 139153455 139153455 T C SNP SLC7A11 ENST00000280612 human ensembl 74_37 -1 known silent c.486 p.E162 0.829 pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A11 HGNC ENSG00000151012 tier1 - - 83 0 0.00 42 14 25.00 SLCO1B3 0 genome.wustl.edu 37 12 21242939 21242939 + Missense_Mutation SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 12 21242939 21242939 G A SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.2146 p.D716N 0.410 superfamily_MFS_dom_general_subst_transpt pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 tier1 - - 42 0 0.00 23 9 28.12 SLFN12L 0 genome.wustl.edu 37 17 33806505 33806505 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 17 33806505 33806505 G C SNP SLFN12L ENST00000449046 human ensembl 74_37 -1 known missense c.817 p.Q273E 0.024 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4 - no_errors SLFN12L HGNC ENSG00000205045 tier1 - - 56 0 0.00 42 8 16.00 SLITRK5 0 genome.wustl.edu 37 13 88328821 88328821 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 13 88328821 88328821 G T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.1178 p.C393F 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 tier1 - - 53 0 0.00 15 14 48.28 SMAD9 0 genome.wustl.edu 37 13 37427627 37427627 + Missense_Mutation SNP A A T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 13 37427627 37427627 A T SNP SMAD9 ENST00000379826 human ensembl 74_37 -1 known missense c.1189 p.S397T 1.000 pfam_SMAD_dom_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD9 HGNC ENSG00000120693 tier1 - - 72 0 0.00 28 12 30.00 SMC1B 0 genome.wustl.edu 37 22 45782829 45782829 + Missense_Mutation SNP T T A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 22 45782829 45782829 T A SNP SMC1B ENST00000357450 human ensembl 74_37 -1 known missense c.1829 p.Q610L 1.000 pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 tier1 - - 136 0 0.00 79 36 31.30 SMCR8 0 genome.wustl.edu 37 17 18220814 18220814 + Missense_Mutation SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 17 18220814 18220814 G A SNP SMCR8 ENST00000406438 human ensembl 74_37 +1 known missense c.1711 p.E571K 0.997 NULL pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 tier1 - - 144 0 0.00 40 24 37.50 SNIP1 0 genome.wustl.edu 37 1 38018129 38018129 + RNA SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 38018129 38018129 G A SNP SNIP1 ENST00000493916 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors SNIP1 HGNC ENSG00000163877 tier1 - - 36 0 0.00 13 7 35.00 SOS1 0 genome.wustl.edu 37 2 39262356 39262356 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 39262356 39262356 C G SNP SOS1 ENST00000402219 human ensembl 74_37 -1 known missense c.1071 p.L357F 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 tier1 - - 23 0 0.00 18 10 35.71 SPIRE1 0 genome.wustl.edu 37 18 12512454 12512454 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 18 12512454 12512454 C A SNP SPIRE1 ENST00000409402 human ensembl 74_37 -1 known missense c.806 p.W269L 1.000 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE1 HGNC ENSG00000134278 tier1 - - 74 0 0.00 50 20 28.57 SPOP 0 genome.wustl.edu 37 17 47679346 47679346 + Silent SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 17 47679346 47679346 G A SNP SPOP ENST00000347630 human ensembl 74_37 -1 known silent c.861 p.V287 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOP HGNC ENSG00000121067 tier1 - - 107 0 0.00 50 14 21.88 SPTBN4 0 genome.wustl.edu 37 19 41073596 41073596 + Frame_Shift_Del DEL A A - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 41073596 41073596 A - DEL SPTBN4 ENST00000352632 human ensembl 74_37 +1 known frame_shift_del c.6364 p.K2122fs 1.000 pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 tier1 16 0 0.00 4 2 33.33 SRPR 0 genome.wustl.edu 37 11 126137505 126137506 + Frame_Shift_Del DEL TT TT - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 126137505 126137506 TT - DEL SRPR ENST00000332118 human ensembl 74_37 -1 known frame_shift_del c.304_303 p.S102fs 0.998:0.486 pfam_Sig_recog_particle_rcpt_asu_N,superfamily_Longin-like_dom pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 tier1 61 0 0.00 48 14 22.58 TAF1A 0 genome.wustl.edu 37 1 222757581 222757581 + Silent SNP A A G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 222757581 222757581 A G SNP TAF1A ENST00000350027 human ensembl 74_37 -1 known silent c.180 p.F60 0.057 pirsf_RNA_pol_I_TAF1A/TAFI48 pirsf_RNA_pol_I_TAF1A/TAFI48 - no_errors TAF1A HGNC ENSG00000143498 tier1 - - 117 0 0.00 120 41 25.47 TAOK3 0 genome.wustl.edu 37 12 118636915 118636915 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 12 118636915 118636915 C A SNP TAOK3 ENST00000392533 human ensembl 74_37 -1 known missense c.1135 p.V379F 0.952 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK3 HGNC ENSG00000135090 tier1 - - 133 0 0.00 37 30 44.78 TAS2R60 0 genome.wustl.edu 37 7 143141469 143141469 + Silent SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 7 143141469 143141469 G A SNP TAS2R60 ENST00000332690 human ensembl 74_37 +1 known silent c.924 p.K308 0.016 NULL pfam_TAS2_rcpt - no_errors TAS2R60 HGNC ENSG00000185899 tier1 - - 153 0 0.00 68 41 37.61 TCP11L1 0 genome.wustl.edu 37 11 33090282 33090282 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 33090282 33090282 C G SNP TCP11L1 ENST00000527661 human ensembl 74_37 +1 known missense c.1204 p.L402V 0.998 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L1 HGNC ENSG00000176148 tier1 - - 65 0 0.00 44 18 29.03 TDRD3 0 genome.wustl.edu 37 13 61102950 61102950 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 13 61102950 61102950 C G SNP TDRD3 ENST00000535286 human ensembl 74_37 +1 known missense c.1591 p.Q531E 1.000 NULL pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 tier1 - - 95 0 0.00 88 9 9.28 TGFBRAP1 0 genome.wustl.edu 37 2 105900790 105900790 + Silent SNP T T C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 105900790 105900790 T C SNP TGFBRAP1 ENST00000258449 human ensembl 74_37 -1 known silent c.1104 p.E368 1.000 NULL pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron - no_errors TGFBRAP1 HGNC ENSG00000135966 tier1 - - 248 0 0.00 146 50 25.51 TGFBRAP1 0 genome.wustl.edu 37 2 105900792 105900792 + Nonsense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 105900792 105900792 C A SNP TGFBRAP1 ENST00000258449 human ensembl 74_37 -1 known nonsense c.1102 p.E368* 1.000 NULL pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron - no_errors TGFBRAP1 HGNC ENSG00000135966 tier1 - - 250 0 0.00 147 54 26.87 TH 0 genome.wustl.edu 37 11 2189760 2189760 + Frame_Shift_Del DEL G G - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 11 2189760 2189760 G - DEL TH ENST00000381178 human ensembl 74_37 -1 known frame_shift_del c.541 p.Q181fs 1.000 pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Tyr_3_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase - no_errors TH HGNC ENSG00000180176 tier1 54 0 0.00 18 2 10.00 TIAM1 0 genome.wustl.edu 37 21 32519235 32519235 + Missense_Mutation SNP T T G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 21 32519235 32519235 T G SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.3453 p.K1151N 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 tier1 - - 53 0 0.00 29 5 14.71 TIMMDC1 0 genome.wustl.edu 37 3 119217735 119217735 + Missense_Mutation SNP A A G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 3 119217735 119217735 A G SNP TIMMDC1 ENST00000494664 human ensembl 74_37 +1 known missense c.155 p.E52G 0.995 NULL pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMMDC1 HGNC ENSG00000113845 tier1 - - 129 0 0.00 81 30 27.03 TLE1 0 genome.wustl.edu 37 9 84226723 84226723 + Silent SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 9 84226723 84226723 G A SNP TLE1 ENST00000376499 human ensembl 74_37 -1 known silent c.1215 p.A405 0.002 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 28 0 0.00 19 6 24.00 TLE4 0 genome.wustl.edu 37 9 82191079 82191079 + Missense_Mutation SNP A A T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 9 82191079 82191079 A T SNP TLE4 ENST00000376520 human ensembl 74_37 +1 known missense c.239 p.E80V 1.000 pfam_Groucho/TLE_N pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 tier1 - - 88 0 0.00 63 13 17.11 TMC5 0 genome.wustl.edu 37 16 19468330 19468330 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 16 19468330 19468330 C A SNP TMC5 ENST00000219821 human ensembl 74_37 +1 known missense c.302 p.T101N 0.157 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 tier1 - - 51 0 0.00 37 11 22.92 TMEM63A 0 genome.wustl.edu 37 1 226062032 226062034 + In_Frame_Del DEL TCT TCT - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 226062032 226062034 TCT - DEL TMEM63A ENST00000366835 human ensembl 74_37 -1 known in_frame_del c.222_220 p.R74in_frame_del 0.999:0.997:0.997 NULL pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 tier1 61 0 0.00 83 14 14.43 TMPRSS15 0 genome.wustl.edu 37 21 19666927 19666927 + Silent SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 21 19666927 19666927 G A SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known silent c.2304 p.N768 0.996 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 tier1 - - 124 0 0.00 74 23 23.71 TMPRSS15 0 genome.wustl.edu 37 21 19666929 19666929 + Missense_Mutation SNP T T A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 21 19666929 19666929 T A SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.2302 p.N768Y 0.998 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 tier1 - - 126 0 0.00 74 23 23.71 TNFSF11 0 genome.wustl.edu 37 13 43180637 43180637 + Silent SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 13 43180637 43180637 C T SNP TNFSF11 ENST00000239849 human ensembl 74_37 +1 known silent c.537 p.S179 0.999 superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom - no_errors TNFSF11 HGNC ENSG00000120659 tier1 - - 107 0 0.00 75 26 25.74 TOMM40L 0 genome.wustl.edu 37 1 161199036 161199036 + RNA SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 161199036 161199036 C G SNP TOMM40L ENST00000474486 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TOMM40L HGNC ENSG00000158882 tier1 - - 8 0 0.00 4 4 50.00 TRAF5 0 genome.wustl.edu 37 1 211533329 211533329 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 211533329 211533329 G C SNP TRAF5 ENST00000261464 human ensembl 74_37 +1 known missense c.454 p.D152H 1.000 superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF pfam_MATH,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF5 HGNC ENSG00000082512 tier1 - - 95 0 0.00 64 20 23.81 TRIB1 0 genome.wustl.edu 37 8 126448701 126448703 + In_Frame_Del DEL CTT CTT - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 8 126448701 126448703 CTT - DEL TRIB1 ENST00000311922 human ensembl 74_37 +1 known in_frame_del c.1107_1109 p.F371in_frame_del 1.000:1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors TRIB1 HGNC ENSG00000173334 tier1 74 0 0.00 54 9 14.29 TRIM42 0 genome.wustl.edu 37 3 140406647 140406647 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 3 140406647 140406647 G C SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known missense c.1123 p.E375Q 0.999 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 tier1 - - 54 0 0.00 30 15 33.33 TRMT13 0 genome.wustl.edu 37 1 100608729 100608729 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 100608729 100608729 G C SNP TRMT13 ENST00000370141 human ensembl 74_37 +1 known missense c.706 p.E236Q 1.000 pfam_Methyltransferase_TRM13 pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors TRMT13 HGNC ENSG00000122435 tier1 - - 57 0 0.00 32 4 11.11 TRMT61B 0 genome.wustl.edu 37 2 29087918 29087918 + Missense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 29087918 29087918 C A SNP TRMT61B ENST00000306108 human ensembl 74_37 -1 known missense c.767 p.G256V 1.000 pfam_tRNA_MeTrfase_GCD14,pfam_PCMT pfam_tRNA_MeTrfase_GCD14,pfam_PCMT - no_errors TRMT61B HGNC ENSG00000171103 tier1 - - 46 0 0.00 21 12 36.36 TRPC5 0 genome.wustl.edu 37 X 111019600 111019600 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 X 111019600 111019600 C T SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.2863 p.D955N 1.000 prints_TRPC5_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 tier1 - - 54 0 0.00 16 24 60.00 TTC3 0 genome.wustl.edu 37 21 38510989 38510989 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 21 38510989 38510989 C G SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.1634 p.S545C 1.000 pfscan_TPR-contain_dom pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 tier1 - - 172 0 0.00 87 28 24.14 TTN 0 genome.wustl.edu 37 2 179615944 179615944 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 179615944 179615944 C G SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.11183 p.S3728T 0.004 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 69 0 0.00 37 20 35.09 UBN2 0 genome.wustl.edu 37 7 138978673 138978673 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 7 138978673 138978673 G T SNP UBN2 ENST00000473989 human ensembl 74_37 +1 known missense c.3940 p.A1314S 0.962 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 tier1 - - 90 0 0.00 48 6 11.11 UBXN6 0 genome.wustl.edu 37 19 4447603 4447603 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 4447603 4447603 G T SNP UBXN6 ENST00000301281 human ensembl 74_37 -1 known missense c.559 p.L187M 0.811 pfam_PUB_domain,smart_PUG-dom pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX - no_errors UBXN6 HGNC ENSG00000167671 tier1 - - 180 0 0.00 72 24 25.00 UNC5D 0 genome.wustl.edu 37 8 35631869 35631869 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 8 35631869 35631869 C T SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.2531 p.A844V 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 tier1 - - 79 0 0.00 27 7 20.59 UNC93A 0 genome.wustl.edu 37 6 167708186 167708186 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 6 167708186 167708186 G T SNP UNC93A ENST00000230256 human ensembl 74_37 +1 known missense c.269 p.W90L 1.000 pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 tier1 - - 157 0 0.00 55 21 27.63 VAC14 0 genome.wustl.edu 37 16 70796865 70796865 + Silent SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 16 70796865 70796865 G A SNP VAC14 ENST00000261776 human ensembl 74_37 -1 known silent c.1224 p.L408 0.962 superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 tier1 - - 51 0 0.00 16 9 36.00 VPS13D 0 genome.wustl.edu 37 1 12409363 12409363 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 12409363 12409363 G C SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.9363 p.K3121N 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 tier1 - - 139 0 0.00 95 36 27.48 VPS4A 0 genome.wustl.edu 37 16 69353290 69353290 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 16 69353290 69353290 G T SNP VPS4A ENST00000254950 human ensembl 74_37 +1 known missense c.464 p.G155V 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4A HGNC ENSG00000132612 tier1 - - 75 0 0.00 35 17 32.69 VRK2 0 genome.wustl.edu 37 2 58373508 58373509 + Frame_Shift_Ins INS - - A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 58373508 58373509 - A INS VRK2 ENST00000340157 human ensembl 74_37 +1 known frame_shift_ins c.1081_1082 p.V364fs 0.001:0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors VRK2 HGNC ENSG00000028116 tier1 53 0 0.00 40 13 24.53 WDR24 0 genome.wustl.edu 37 16 739545 739545 + Silent SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 16 739545 739545 G T SNP WDR24 ENST00000248142 human ensembl 74_37 -1 known silent c.282 p.I94 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR24 HGNC ENSG00000127580 tier1 - - 63 0 0.00 24 10 29.41 XIST 0 genome.wustl.edu 37 X 73063132 73063132 + RNA SNP T T A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 X 73063132 73063132 T A SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 69 0 0.00 21 31 59.62 YTHDF1 0 genome.wustl.edu 37 20 61828078 61828078 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 20 61828078 61828078 C G SNP YTHDF1 ENST00000370339 human ensembl 74_37 -1 known missense c.1662 p.Q554H 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 tier1 - - 139 0 0.00 104 24 18.75 ZAN 0 genome.wustl.edu 37 7 100373339 100373339 + Missense_Mutation SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 7 100373339 100373339 G A SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.6073 p.V2025I 0.016 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 tier1 - - 52 0 0.00 30 8 21.05 ZBTB40 0 genome.wustl.edu 37 1 22843905 22843905 + Silent SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 22843905 22843905 C G SNP ZBTB40 ENST00000375647 human ensembl 74_37 +1 known silent c.2781 p.G927 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 tier1 - - 108 0 0.00 46 11 19.30 ZC3H7B 0 genome.wustl.edu 37 22 41735950 41735950 + Missense_Mutation SNP T T G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 22 41735950 41735950 T G SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known missense c.947 p.L316R 1.000 NULL pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 tier1 - - 70 0 0.00 27 14 32.56 ZDHHC14 0 genome.wustl.edu 37 6 158074646 158074646 + Missense_Mutation SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 6 158074646 158074646 C T SNP ZDHHC14 ENST00000359775 human ensembl 74_37 +1 known missense c.1055 p.S352L 0.370 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC14 HGNC ENSG00000175048 tier1 - - 79 0 0.00 26 16 38.10 ZFAND3 0 genome.wustl.edu 37 6 38029470 38029470 + Missense_Mutation SNP T T A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 6 38029470 38029470 T A SNP ZFAND3 ENST00000287218 human ensembl 74_37 +1 known missense c.214 p.S72T 1.000 NULL pfam_Znf_AN1,pfam_Znf_A20,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1 - no_errors ZFAND3 HGNC ENSG00000156639 tier1 - - 77 0 0.00 28 37 56.92 ZFAND5 0 genome.wustl.edu 37 9 74975473 74975473 + RNA SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 9 74975473 74975473 G C SNP ZFAND5 ENST00000487330 human ensembl 74_37 -1 known rna NULL NULL 0.957 - - - no_errors ZFAND5 HGNC ENSG00000107372 tier1 - - 90 0 0.00 50 13 20.63 ZFHX4 0 genome.wustl.edu 37 8 77768377 77768377 + Silent SNP C C T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 8 77768377 77768377 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.9220 p.L3074 1.000 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 ZFHX4 HGNC ENSG00000091656 tier1 - - 129 0 0.00 48 32 40.00 ZFP28 0 genome.wustl.edu 37 19 57065906 57065906 + Silent SNP T T C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 57065906 57065906 T C SNP ZFP28 ENST00000301318 human ensembl 74_37 +1 known silent c.1752 p.S584 0.997 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 ZFP28 HGNC ENSG00000196867 tier1 - - 153 0 0.00 92 40 30.30 ZFP82 0 genome.wustl.edu 37 19 36884063 36884063 + Silent SNP A A C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 36884063 36884063 A C SNP ZFP82 ENST00000392161 human ensembl 74_37 -1 known silent c.1179 p.P393 0.997 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 ZFP82 HGNC ENSG00000181007 tier1 - - 116 0 0.00 68 35 33.98 ZIK1 0 genome.wustl.edu 37 19 58096321 58096321 + Missense_Mutation SNP T T C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 58096321 58096321 T C SNP ZIK1 ENST00000597850 human ensembl 74_37 +1 known missense c.35 p.V12A 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIK1 HGNC ENSG00000171649 tier1 - - 137 0 0.00 58 13 18.31 ZKSCAN3 0 genome.wustl.edu 37 6 28327639 28327639 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 6 28327639 28327639 G T SNP ZKSCAN3 ENST00000252211 human ensembl 74_37 +1 known missense c.276 p.E92D 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN3 HGNC ENSG00000189298 tier1 - - 75 0 0.00 37 12 24.49 ZNF514 0 genome.wustl.edu 37 2 95815043 95815043 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 2 95815043 95815043 C G SNP ZNF514 ENST00000295208 human ensembl 74_37 -1 known missense c.1187 p.G396A 0.976 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 ZNF514 HGNC ENSG00000144026 tier1 - - 137 0 0.00 88 43 32.82 ZNF606 0 genome.wustl.edu 37 19 58490439 58490439 + Nonsense_Mutation SNP C C A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 58490439 58490439 C A SNP ZNF606 ENST00000341164 human ensembl 74_37 -1 known nonsense c.1609 p.E537* 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF606 HGNC ENSG00000166704 tier1 - - 69 0 0.00 55 19 25.68 ZNF646 0 genome.wustl.edu 37 16 31090969 31090969 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 16 31090969 31090969 G C SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.3324 p.E1108D 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 tier1 - - 141 0 0.00 57 19 25.00 ZNF699 0 genome.wustl.edu 37 19 9406674 9406674 + Missense_Mutation SNP T T G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 9406674 9406674 T G SNP ZNF699 ENST00000308650 human ensembl 74_37 -1 known missense c.1406 p.H469P 0.997 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 ZNF699 HGNC ENSG00000196110 tier1 - - 57 0 0.00 15 12 44.44 ZNF700 0 genome.wustl.edu 37 19 12060747 12060747 + Silent SNP G G A TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 19 12060747 12060747 G A SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known silent c.1908 p.Q636 0.000 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 ZNF700 HGNC ENSG00000196757 115 0 0.00 62 4 6.06 ZNF736 0 genome.wustl.edu 37 7 63797310 63797310 + Missense_Mutation SNP G G C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 7 63797310 63797310 G C SNP ZNF736 ENST00000355095 human ensembl 74_37 +1 known missense c.176 p.R59T 0.267 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF736 HGNC ENSG00000234444 tier1 - - 8 0 0.00 4 4 50.00 ZNF80 0 genome.wustl.edu 37 3 113955131 113955131 + Missense_Mutation SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 3 113955131 113955131 C G SNP ZNF80 ENST00000308095 human ensembl 74_37 -1 known missense c.791 p.S264T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF80 HGNC ENSG00000174255 tier1 - - 111 0 0.00 52 29 35.80 ZNFX1 0 genome.wustl.edu 37 20 47868062 47868062 + Splice_Site SNP A A C TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 20 47868062 47868062 A C SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known splice_site c.3312+2 e12+2 1.000 - - - no_errors ZNFX1 HGNC ENSG00000124201 tier1 - - 55 0 0.00 37 10 21.28 ZRANB2 0 genome.wustl.edu 37 1 71535065 71535065 + RNA DEL T T - TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 1 71535065 71535065 T - DEL ZRANB2 ENST00000487510 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZRANB2 HGNC ENSG00000132485 tier1 41 0 0.00 34 4 10.53 ZSCAN2 0 genome.wustl.edu 37 15 85163987 85163987 + Silent SNP C C G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 15 85163987 85163987 C G SNP ZSCAN2 ENST00000448803 human ensembl 74_37 +1 known silent c.561 p.L187 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 ZSCAN2 HGNC ENSG00000176371 tier1 - - 82 0 0.00 60 39 39.39 ZSCAN21 0 genome.wustl.edu 37 7 99661532 99661532 + Missense_Mutation SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 7 99661532 99661532 G T SNP ZSCAN21 ENST00000292450 human ensembl 74_37 +1 known missense c.714 p.E238D 0.973 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN21 HGNC ENSG00000166529 tier1 - - 149 0 0.00 59 48 44.86 ZSCAN29 0 genome.wustl.edu 37 15 43661250 43661250 + Missense_Mutation SNP T T G TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 15 43661250 43661250 T G SNP ZSCAN29 ENST00000396976 human ensembl 74_37 -1 known missense c.394 p.S132R 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 tier1 rs151307138 - 146 0 0.00 49 34 40.96 ZSWIM1 0 genome.wustl.edu 37 20 44511672 44511672 + Silent SNP G G T TCGA-VQ-AA64-01A-11D-A410-08 TCGA-VQ-AA64-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91be81a2-59a5-4bf3-8959-c32dbf36daf0 831f5a8d-a146-4e0a-8189-2dd2fa32e621 20 44511672 44511672 G T SNP ZSWIM1 ENST00000372520 human ensembl 74_37 +1 known silent c.441 p.V147 1.000 NULL pfam_Znf_SWIM,pfscan_Znf_SWIM - no_errors ZSWIM1 HGNC ENSG00000168612 tier1 - - 90 0 0.00 83 13 13.54