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 AMIGO1 0 genome.wustl.edu 37 1 110051073 110051073 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 110051073 110051073 G A SNP AMIGO1 ENST00000369862 human ensembl 74_37 -1 known silent c.462 p.F154 0.594 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AMIGO1 HGNC ENSG00000181754 135 0 0 77 28 26.6667 MAB21L3 0 genome.wustl.edu 37 1 116670948 116670948 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 116670948 116670948 C T SNP MAB21L3 ENST00000369500 human ensembl 74_37 +1 known silent c.843 p.S281 0.797 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L3 HGNC ENSG00000173212 22 0 0 20 3 13.0435 MTMR11 0 genome.wustl.edu 37 1 149903153 149903153 + Missense_Mutation SNP T T A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 149903153 149903153 T A SNP MTMR11 ENST00000439741 human ensembl 74_37 -1 known missense c.1289 p.E430V 1.000 NULL pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR11 HGNC ENSG00000014914 87 0 0 58 33 36.2637 ARNT 0 genome.wustl.edu 37 1 150786667 150786667 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 150786667 150786667 C T SNP ARNT ENST00000358595 human ensembl 74_37 -1 known missense c.1999 p.V667M 0.992 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT HGNC ENSG00000143437 99 0 0 98 25 20.3252 HRNR 0 genome.wustl.edu 37 1 152188176 152188176 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 152188176 152188176 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.5929 p.R1977C 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 20 0 0 25 7 21.875 FLG2 0 genome.wustl.edu 37 1 152327266 152327266 + Missense_Mutation SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 152327266 152327266 T C SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.2996 p.Y999C 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 368 0 0 305 80 20.7792 IVL 0 genome.wustl.edu 37 1 152882716 152882716 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 152882716 152882716 A C SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.443 p.K148T 0.000 NULL pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 16 0 0 27 7 20.5882 NPR1 0 genome.wustl.edu 37 1 153661760 153661760 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 153661760 153661760 G A SNP NPR1 ENST00000368680 human ensembl 74_37 +1 known silent c.2661 p.A887 0.989 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 156 0 0 133 19 12.5 SPTA1 0 genome.wustl.edu 37 1 158654936 158654936 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 158654936 158654936 A C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.226 p.L76V 0.008 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 41 0 0 31 10 24.3902 IFI16 0 genome.wustl.edu 37 1 159015246 159015246 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 159015246 159015246 T G SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.1489 p.L497V 0.008 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 120 0 0 115 20 14.8148 OR10J5 0 genome.wustl.edu 37 1 159505764 159505764 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 159505764 159505764 A C SNP OR10J5 ENST00000334857 human ensembl 74_37 -1 known missense c.34 p.F12V 0.309 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J5 HGNC ENSG00000184155 43 0 0 50 12 19.3548 VANGL2 0 genome.wustl.edu 37 1 160389129 160389129 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 160389129 160389129 G A SNP VANGL2 ENST00000368061 human ensembl 74_37 +1 known missense c.530 p.R177H 0.922 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 106 0 0 117 17 12.6866 SELP 0 genome.wustl.edu 37 1 169582271 169582271 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 169582271 169582271 G A SNP SELP ENST00000263686 human ensembl 74_37 -1 known missense c.671 p.S224L 0.999 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 46 0 0 49 12 19.6721 PTPRC 0 genome.wustl.edu 37 1 198685876 198685876 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 198685876 198685876 A C SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.1357 p.T453P 0.004 pirsf_Leukocyte_common_ag,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 12 0 0 28 7 20 NAV1 0 genome.wustl.edu 37 1 201751367 201751367 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 201751367 201751367 G A SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.1727 p.R576H 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 114 0 0 104 42 28.7671 PPP1R12B 0 genome.wustl.edu 37 1 202407143 202407143 + Missense_Mutation SNP C C A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 202407143 202407143 C A SNP PPP1R12B ENST00000336894 human ensembl 74_37 +1 known missense c.1449 p.N483K 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 70 0 0 84 19 18.4466 PLXNA2 0 genome.wustl.edu 37 1 208257739 208257739 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 208257739 208257739 A G SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.2284 p.C762R 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 86 0 0 50 33 39.759 USH2A 0 genome.wustl.edu 37 1 215914777 215914777 + Missense_Mutation SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 215914777 215914777 T C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.11651 p.E3884G 0.007 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 79 0 0 87 14 13.8614 ESRRG 0 genome.wustl.edu 37 1 216850642 216850642 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 216850642 216850642 G A SNP ESRRG ENST00000408911 human ensembl 74_37 -1 known missense c.248 p.P83L 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC ENSG00000196482 80 0 0 65 20 23.5294 CNIH3 0 genome.wustl.edu 37 1 224849019 224849019 + RNA SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 224849019 224849019 A C SNP CNIH3 ENST00000496277 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CNIH3 HGNC ENSG00000143786 21 0 0 13 5 27.7778 OR2G3 0 genome.wustl.edu 37 1 247769014 247769014 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 247769014 247769014 T G SNP OR2G3 ENST00000320002 human ensembl 74_37 +1 known missense c.127 p.F43V 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 OR2G3 HGNC ENSG00000177476 147 0 0 160 23 12.5683 OR14K1 0 genome.wustl.edu 37 1 247902546 247902546 + Silent SNP T T A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 247902546 247902546 T A SNP OR14K1 ENST00000283225 human ensembl 74_37 +1 known silent c.630 p.V210 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14K1 HGNC ENSG00000153230 84 0 0 72 12 14.2857 OR1C1 0 genome.wustl.edu 37 1 247920983 247920983 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 247920983 247920983 G A SNP OR1C1 ENST00000408896 human ensembl 74_37 -1 known silent c.726 p.S242 0.225 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1C1 HGNC ENSG00000221888 43 0 0 31 7 18.4211 OR2T6 0 genome.wustl.edu 37 1 248551653 248551653 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 248551653 248551653 G A SNP OR2T6 ENST00000355728 human ensembl 74_37 +1 known silent c.744 p.V248 0.149 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2T6 HGNC ENSG00000198104 87 0 0 63 11 14.8649 LRRIQ3 0 genome.wustl.edu 37 1 74507272 74507272 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 74507272 74507272 A C SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known missense c.1343 p.V448G 0.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 52 0 0 45 8 15.0943 LPAR3 0 genome.wustl.edu 37 1 85331706 85331706 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 85331706 85331706 A C SNP LPAR3 ENST00000370611 human ensembl 74_37 -1 known missense c.98 p.V33G 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG7,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt - no_errors LPAR3 HGNC ENSG00000171517 128 0 0 96 24 20 SEMA4G 0 genome.wustl.edu 37 10 102737435 102737435 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 10 102737435 102737435 C T SNP SEMA4G ENST00000210633 human ensembl 74_37 +1 known missense c.383 p.T128I 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4G HGNC ENSG00000095539 168 0 0 114 21 15.5556 PPRC1 0 genome.wustl.edu 37 10 103898676 103898676 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 10 103898676 103898676 G A SNP PPRC1 ENST00000278070 human ensembl 74_37 +1 known missense c.530 p.R177H 0.997 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 84 0 0 58 15 20.5479 CCDC147 0 genome.wustl.edu 37 10 106125738 106125738 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 10 106125738 106125738 A G SNP CCDC147 ENST00000369704 human ensembl 74_37 +1 known missense c.764 p.K255R 0.834 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 27 0 0 20 3 13.0435 CCDC147 0 genome.wustl.edu 37 10 106209856 106209856 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 10 106209856 106209856 G A SNP CCDC147 ENST00000369704 human ensembl 74_37 +1 known missense c.2404 p.E802K 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 40 0 0 37 8 17.7778 PDZD8 0 genome.wustl.edu 37 10 119078468 119078468 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 10 119078468 119078468 G A SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known missense c.1013 p.S338F 1.000 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 17 0 0 31 9 22.5 PDSS1 0 genome.wustl.edu 37 10 26993640 26993640 + Missense_Mutation SNP C C A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 10 26993640 26993640 C A SNP PDSS1 ENST00000376215 human ensembl 74_37 +1 known missense c.197 p.S66Y 0.931 NULL pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS1 HGNC ENSG00000148459 35 0 0 42 11 20.7547 OR13A1 0 genome.wustl.edu 37 10 45799582 45799582 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 10 45799582 45799582 G A SNP OR13A1 ENST00000374401 human ensembl 74_37 -1 known missense c.289 p.P97S 0.999 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 OR13A1 HGNC ENSG00000256574 38 0 0 44 5 10.2041 RBP3 0 genome.wustl.edu 37 10 48390461 48390461 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 10 48390461 48390461 C T SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known silent c.417 p.P139 0.000 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 104 0 0 103 33 24.2647 SLC18A3 0 genome.wustl.edu 37 10 50819325 50819325 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 10 50819325 50819325 C T SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known missense c.539 p.A180V 0.990 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 SLC18A3 HGNC ENSG00000187714 83 0 0 82 13 13.6842 PCDH15 0 genome.wustl.edu 37 10 55569106 55569106 + Missense_Mutation SNP T T A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 10 55569106 55569106 T A SNP PCDH15 ENST00000395445 human ensembl 74_37 -1 novel missense c.4704 p.E1568D 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 63 0 0 56 11 16.4179 CDH23 0 genome.wustl.edu 37 10 73574963 73574963 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 10 73574963 73574963 C T SNP CDH23 ENST00000398788 human ensembl 74_37 +1 known silent c.3273 p.S1091 0.017 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 38 0 0 42 7 14.2857 DYNC2H1 0 genome.wustl.edu 37 11 103027345 103027345 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 103027345 103027345 G A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.3973 p.V1325I 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 20 0 0 28 5 15.1515 NXPE4 0 genome.wustl.edu 37 11 114453678 114453678 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 114453678 114453678 G A SNP NXPE4 ENST00000375478 human ensembl 74_37 -1 known silent c.162 p.F54 0.000 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE4 HGNC ENSG00000137634 146 0 0 137 40 22.5989 TRAPPC4 0 genome.wustl.edu 37 11 118889853 118889853 + Missense_Mutation SNP T T A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 118889853 118889853 T A SNP TRAPPC4 ENST00000533632 human ensembl 74_37 +1 known missense c.176 p.V59E 1.000 pfam_Sybindin,superfamily_Longin-like_dom pfam_Sybindin,pfam_Sedlin,superfamily_Longin-like_dom - no_errors TRAPPC4 HGNC ENSG00000196655 46 0 0 71 9 11.25 SLC37A2 0 genome.wustl.edu 37 11 124949031 124949031 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 124949031 124949031 C T SNP SLC37A2 ENST00000308074 human ensembl 74_37 +1 known missense c.338 p.P113L 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A2 HGNC ENSG00000134955 217 0 0 177 40 18.4332 AMBRA1 0 genome.wustl.edu 37 11 46564896 46564896 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 46564896 46564896 C T SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known missense c.671 p.R224H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 59 0 0 68 7 9.33333 ZNF408 0 genome.wustl.edu 37 11 46724788 46724788 + Missense_Mutation SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 46724788 46724788 G C SNP ZNF408 ENST00000311764 human ensembl 74_37 +1 known missense c.647 p.C216S 0.371 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ENSG00000175213 23 0 0 13 3 18.75 FOLH1 0 genome.wustl.edu 37 11 49204779 49204779 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 49204779 49204779 C T SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known missense c.842 p.R281H 0.843 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 30 0 0 59 9 13.2353 FOLH1 0 genome.wustl.edu 37 11 49221943 49221943 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 49221943 49221943 A G SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known missense c.275 p.L92P 0.999 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 24 0 0 26 6 18.75 OR51L1 0 genome.wustl.edu 37 11 5020717 5020717 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 5020717 5020717 C T SNP OR51L1 ENST00000321543 human ensembl 74_37 +1 known missense c.505 p.H169Y 0.929 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 OR51L1 HGNC ENSG00000176798 141 0 0 102 17 14.2857 OR4P4 0 genome.wustl.edu 37 11 55406147 55406147 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 55406147 55406147 T G SNP OR4P4 ENST00000314612 human ensembl 74_37 +1 known missense c.314 p.F105C 0.088 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 OR4P4 HGNC ENSG00000181927 54 0 0 28 17 37.7778 OR5L1 0 genome.wustl.edu 37 11 55579654 55579654 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 55579654 55579654 T G SNP OR5L1 ENST00000333973 human ensembl 74_37 +1 known missense c.712 p.F238V 0.952 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC ENSG00000186117 126 0 0 91 18 16.5138 PHRF1 0 genome.wustl.edu 37 11 608145 608145 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 608145 608145 G A SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known missense c.2689 p.G897R 0.003 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 104 0 0 95 15 13.6364 FRMD8 0 genome.wustl.edu 37 11 65154607 65154607 + Missense_Mutation SNP C C A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 65154607 65154607 C A SNP FRMD8 ENST00000531296 human ensembl 74_37 +1 putative missense c.100 p.H34N 0.000 NULL NULL - no_errors FRMD8 HGNC ENSG00000126391 93 0 0 65 8 10.9589 FRMD8 0 genome.wustl.edu 37 11 65154608 65154608 + Missense_Mutation SNP A A T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 65154608 65154608 A T SNP FRMD8 ENST00000531296 human ensembl 74_37 +1 putative missense c.101 p.H34L 0.000 NULL NULL - no_errors FRMD8 HGNC ENSG00000126391 92 0 0 63 8 11.2676 DRAP1 0 genome.wustl.edu 37 11 65688402 65688402 + Missense_Mutation SNP A A T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 65688402 65688402 A T SNP DRAP1 ENST00000312515 human ensembl 74_37 +1 known missense c.471 p.Q157H 0.014 NULL pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold - no_errors DRAP1 HGNC ENSG00000175550 38 0 0 52 11 17.4603 OR2D2 0 genome.wustl.edu 37 11 6913570 6913570 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 6913570 6913570 T G SNP OR2D2 ENST00000299459 human ensembl 74_37 -1 known missense c.162 p.Q54H 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2D2 HGNC ENSG00000166368 35 0 0 32 10 23.8095 GAB2 0 genome.wustl.edu 37 11 77937657 77937657 + Missense_Mutation SNP C C G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 77937657 77937657 C G SNP GAB2 ENST00000361507 human ensembl 74_37 -1 known missense c.1061 p.R354P 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 85 0 0 43 24 35.8209 GAB2 0 genome.wustl.edu 37 11 77937662 77937662 + Silent SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 77937662 77937662 T G SNP GAB2 ENST00000361507 human ensembl 74_37 -1 known silent c.1056 p.P352 0.999 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 85 0 0 48 17 26.1538 TENM4 0 genome.wustl.edu 37 11 78383337 78383337 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 78383337 78383337 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.5534 p.R1845H 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 72 0 0 72 16 18.1818 C11orf16 0 genome.wustl.edu 37 11 8951047 8951047 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 8951047 8951047 G A SNP C11orf16 ENST00000326053 human ensembl 74_37 -1 known silent c.201 p.A67 0.126 NULL NULL - no_errors C11orf16 HGNC ENSG00000176029 35 0 0 36 4 10 WEE1 0 genome.wustl.edu 37 11 9608313 9608313 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 11 9608313 9608313 A G SNP WEE1 ENST00000450114 human ensembl 74_37 +1 known missense c.1697 p.H566R 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,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,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom - no_errors WEE1 HGNC ENSG00000166483 44 0 0 24 14 36.8421 STAB2 0 genome.wustl.edu 37 12 104049325 104049325 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 12 104049325 104049325 A C SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.1700 p.K567T 0.886 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 54 0 0 50 8 13.7931 TAS2R7 0 genome.wustl.edu 37 12 10954798 10954798 + Missense_Mutation SNP C C G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 12 10954798 10954798 C G SNP TAS2R7 ENST00000240687 human ensembl 74_37 -1 known missense c.372 p.W124C 1.000 pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R7 HGNC ENSG00000121377 28 0 0 15 6 28.5714 TAS2R14 0 genome.wustl.edu 37 12 11091473 11091473 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 12 11091473 11091473 C T SNP TAS2R14 ENST00000537503 human ensembl 74_37 -1 known missense c.334 p.A112T 0.692 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R14 HGNC ENSG00000212127 24 0 0 26 9 25.7143 DDX54 0 genome.wustl.edu 37 12 113603492 113603492 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 12 113603492 113603492 C T SNP DDX54 ENST00000314045 human ensembl 74_37 -1 known missense c.1676 p.R559Q 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 29 0 0 28 5 15.1515 KSR2 0 genome.wustl.edu 37 12 118298219 118298219 + Nonsense_Mutation SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 12 118298219 118298219 G C SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known nonsense c.198 p.Y66* 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 16 0 0 17 3 15 SOX5 0 genome.wustl.edu 37 12 23908589 23908589 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 12 23908589 23908589 T G SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known missense c.551 p.N184T 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 34 0 0 30 8 21.0526 TSPAN11 0 genome.wustl.edu 37 12 31132552 31132552 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 12 31132552 31132552 G A SNP TSPAN11 ENST00000261177 human ensembl 74_37 +1 known missense c.403 p.G135R 0.980 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN11 HGNC ENSG00000110900 106 0 0 52 17 24.6377 LRRK2 0 genome.wustl.edu 37 12 40668689 40668689 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 12 40668689 40668689 A G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.1835 p.Y612C 0.103 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 22 0 0 14 5 26.3158 EIF4B 0 genome.wustl.edu 37 12 53433975 53433975 + Missense_Mutation SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 12 53433975 53433975 G C SNP EIF4B ENST00000262056 human ensembl 74_37 +1 known missense c.1804 p.D602H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4B HGNC ENSG00000063046 37 0 0 35 11 23.913 NEUROD4 0 genome.wustl.edu 37 12 55420235 55420235 + Silent SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 12 55420235 55420235 T G SNP NEUROD4 ENST00000242994 human ensembl 74_37 +1 known silent c.12 p.T4 0.200 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD4 HGNC ENSG00000123307 36 0 0 31 4 11.4286 CEP290 0 genome.wustl.edu 37 12 88473003 88473003 + Missense_Mutation SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 12 88473003 88473003 G C SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.5236 p.L1746V 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 20 0 0 17 7 29.1667 TRPC4 0 genome.wustl.edu 37 13 38320315 38320315 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 13 38320315 38320315 G A SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known missense c.656 p.T219I 1.000 pfam_TRP_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 96 0 0 38 17 30.9091 DHRS4L1 0 genome.wustl.edu 37 14 24505773 24505773 + RNA SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 14 24505773 24505773 T C SNP DHRS4L1 ENST00000558293 human ensembl 74_37 +1 known rna NULL NULL 0.771 - - - no_errors RP11-468E2.9 Clone_based_vega_gene ENSG00000225766 10 0 0 10 7 41.1765 PNN 0 genome.wustl.edu 37 14 39646862 39646862 + Missense_Mutation SNP T T A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 14 39646862 39646862 T A SNP PNN ENST00000216832 human ensembl 74_37 +1 known missense c.393 p.D131E 1.000 pfam_Pinin_SDK_N pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA - no_errors PNN HGNC ENSG00000100941 143 0 0 102 28 21.5385 SYNE2 0 genome.wustl.edu 37 14 64518714 64518714 + Nonsense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 14 64518714 64518714 G T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known nonsense c.8083 p.G2695* 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 89 0 0 69 12 14.8148 ADAM21P1 0 genome.wustl.edu 37 14 70713445 70713445 + RNA SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 14 70713445 70713445 G A SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.247 - - - no_errors ADAM21P1 HGNC ENSG00000235812 113 0 0 74 9 10.8434 ADAM21 0 genome.wustl.edu 37 14 70925106 70925106 + Missense_Mutation SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 14 70925106 70925106 T C SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known missense c.890 p.M297T 0.996 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 103 0 0 99 8 7.47664 HERC2P2 0 genome.wustl.edu 37 15 23299687 23299687 + RNA SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 15 23299687 23299687 G A SNP HERC2P2 ENST00000559970 human ensembl 74_37 -1 known rna NULL NULL 0.580 - - - no_errors HERC2P2 HGNC ENSG00000140181 51 0 0 53 7 11.6667 GABRA5 0 genome.wustl.edu 37 15 27114465 27114465 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 15 27114465 27114465 T G SNP GABRA5 ENST00000335625 human ensembl 74_37 +1 known missense c.70 p.L24V 1.000 prints_GABBAa5_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA5 HGNC ENSG00000186297 56 0 0 30 6 16.6667 OCA2 0 genome.wustl.edu 37 15 28196946 28196946 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 15 28196946 28196946 G A SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known silent c.1935 p.G645 1.000 pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 29 0 0 34 5 12.8205 RYR3 0 genome.wustl.edu 37 15 33925224 33925224 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 15 33925224 33925224 T G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.2942 p.I981S 0.988 pfam_Ryanodine_rcpt pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 54 0 0 37 7 15.9091 RYR3 0 genome.wustl.edu 37 15 33954664 33954664 + Missense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 15 33954664 33954664 G T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.4933 p.D1645Y 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 57 0 0 28 10 26.3158 TMEM87A 0 genome.wustl.edu 37 15 42560228 42560228 + Missense_Mutation SNP C C G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 15 42560228 42560228 C G SNP TMEM87A ENST00000389834 human ensembl 74_37 -1 known missense c.208 p.D70H 1.000 NULL pfam_TM_rcpt_euk - no_errors TMEM87A HGNC ENSG00000103978 14 0 0 33 7 17.5 CEP152 0 genome.wustl.edu 37 15 49083523 49083523 + Missense_Mutation SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 15 49083523 49083523 G C SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known missense c.883 p.Q295E 1.000 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 17 0 0 29 5 14.7059 CILP 0 genome.wustl.edu 37 15 65489129 65489129 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 15 65489129 65489129 C T SNP CILP ENST00000261883 human ensembl 74_37 -1 known silent c.3495 p.Q1165 0.001 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 46 0 0 39 10 20.4082 GDPGP1 0 genome.wustl.edu 37 15 90784534 90784534 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 15 90784534 90784534 G A SNP GDPGP1 ENST00000329600 human ensembl 74_37 +1 known missense c.394 p.G132R 0.998 NULL NULL - no_errors GDPGP1 HGNC ENSG00000183208 118 1 0.840336 148 22 12.9412 GLYR1 0 genome.wustl.edu 37 16 4882044 4882044 + Missense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 16 4882044 4882044 G T SNP GLYR1 ENST00000321919 human ensembl 74_37 -1 known missense c.473 p.S158Y 1.000 NULL pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom - no_errors GLYR1 HGNC ENSG00000140632 111 0 0 82 15 15.4639 SLC38A7 0 genome.wustl.edu 37 16 58701249 58701249 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 16 58701249 58701249 G A SNP SLC38A7 ENST00000564100 human ensembl 74_37 -1 putative silent c.1026 p.V342 0.016 NULL pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A7 HGNC ENSG00000103042 53 0 0 72 10 12.1951 ENSG00000263126 0 genome.wustl.edu 37 16 67919606 67919606 + RNA SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 16 67919606 67919606 A C SNP ENSG00000263126 ENST00000572067 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors CTC-479C5.10 Clone_based_vega_gene ENSG00000263126 24 0 0 12 9 42.8571 DNAH9 0 genome.wustl.edu 37 17 11671866 11671866 + Missense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 11671866 11671866 G T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.7267 p.D2423Y 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 71 0 0 44 7 13.7255 SREBF1 0 genome.wustl.edu 37 17 17718001 17718001 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 17718001 17718001 C T SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known missense c.2753 p.R918Q 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 11 0 0 14 4 22.2222 ATAD5 0 genome.wustl.edu 37 17 29220647 29220647 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 29220647 29220647 G A SNP ATAD5 ENST00000321990 human ensembl 74_37 +1 known silent c.4776 p.L1592 0.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 31 0 0 37 13 26 AP2B1 0 genome.wustl.edu 37 17 33966626 33966626 + Missense_Mutation SNP C C G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 33966626 33966626 C G SNP AP2B1 ENST00000312678 human ensembl 74_37 +1 known missense c.1284 p.I428M 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC ENSG00000006125 61 0 0 42 10 19.2308 TAF15 0 genome.wustl.edu 37 17 34171905 34171905 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 34171905 34171905 C T SNP TAF15 ENST00000592237 human ensembl 74_37 +1 putative missense c.1016 p.T339I 1.000 NULL pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors TAF15 HGNC ENSG00000172660 93 0 0 76 20 20.8333 CASC3 0 genome.wustl.edu 37 17 38319064 38319064 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 38319064 38319064 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known missense c.695 p.S232F 0.998 pfam_Btz_dom pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 65 0 0 77 6 7.22892 CASC3 0 genome.wustl.edu 37 17 38319117 38319117 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 38319117 38319117 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known missense c.748 p.P250S 0.959 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 67 0 0 85 5 5.55556 CASC3 0 genome.wustl.edu 37 17 38324513 38324513 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 38324513 38324513 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known missense c.1808 p.P603L 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 129 0 0 180 15 7.69231 CASC3 0 genome.wustl.edu 37 17 38324586 38324586 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 38324586 38324586 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known silent c.1881 p.V627 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 100 0 0 114 14 10.9375 CASC3 0 genome.wustl.edu 37 17 38324639 38324639 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 38324639 38324639 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known missense c.1934 p.P645L 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 85 0 0 81 10 10.989 CASC3 0 genome.wustl.edu 37 17 38325584 38325584 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 38325584 38325584 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known missense c.1973 p.S658L 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 201 0 0 171 10 5.52486 CASC3 0 genome.wustl.edu 37 17 38325681 38325681 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 38325681 38325681 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known silent c.2070 p.I690 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 146 0 0 112 11 8.94309 CDC6 0 genome.wustl.edu 37 17 38458232 38458232 + Missense_Mutation SNP C C G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 38458232 38458232 C G SNP CDC6 ENST00000209728 human ensembl 74_37 +1 known missense c.1662 p.I554M 1.000 pirsf_Cell_div_Cdc6/18 pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18 - no_errors CDC6 HGNC ENSG00000094804 37 0 0 76 4 5 KRT27 0 genome.wustl.edu 37 17 38935876 38935876 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 38935876 38935876 C T SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known missense c.850 p.A284T 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 55 0 0 45 6 11.7647 HAP1 0 genome.wustl.edu 37 17 39890671 39890671 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 39890671 39890671 C T SNP HAP1 ENST00000310778 human ensembl 74_37 -1 known silent c.216 p.S72 0.092 NULL pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 28 0 0 36 5 12.1951 NBR2 0 genome.wustl.edu 37 17 41290700 41290700 + RNA SNP C C G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 41290700 41290700 C G SNP NBR2 ENST00000356906 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NBR2 HGNC ENSG00000198496 26 0 0 13 6 31.5789 EPN3 0 genome.wustl.edu 37 17 48619031 48619031 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 48619031 48619031 A G SNP EPN3 ENST00000537145 human ensembl 74_37 +1 known missense c.1645 p.K549E 0.715 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN3 HGNC ENSG00000049283 64 0 0 58 11 15.942 LPO 0 genome.wustl.edu 37 17 56326946 56326946 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 56326946 56326946 G A SNP LPO ENST00000262290 human ensembl 74_37 +1 known missense c.463 p.A155T 0.074 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 29 0 0 33 8 19.5122 TMEM104 0 genome.wustl.edu 37 17 72832120 72832120 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 72832120 72832120 A G SNP TMEM104 ENST00000335464 human ensembl 74_37 +1 known missense c.785 p.E262G 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 152 1 0.653595 74 33 30.8411 CYGB 0 genome.wustl.edu 37 17 74527570 74527570 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 74527570 74527570 T G SNP CYGB ENST00000293230 human ensembl 74_37 -1 known missense c.347 p.K116T 1.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Globin_lamprey/hagfish pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Globin_lamprey/hagfish,prints_Myoglobin - no_errors CYGB HGNC ENSG00000161544 63 0 0 49 11 18.3333 TP53 0 genome.wustl.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 7577538 7577538 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.743 p.R248Q 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 62 0 0 40 28 41.1765 CD7 0 genome.wustl.edu 37 17 80274791 80274791 + Missense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 80274791 80274791 G T SNP CD7 ENST00000312648 human ensembl 74_37 -1 known missense c.149 p.T50N 0.142 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD7 HGNC ENSG00000173762 86 0 0 52 32 38.0952 ABR 0 genome.wustl.edu 37 17 910419 910419 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 17 910419 910419 C T SNP ABR ENST00000302538 human ensembl 74_37 -1 known missense c.2476 p.D826N 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 65 0 0 47 17 26.5625 PIEZO2 0 genome.wustl.edu 37 18 10689765 10689765 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 18 10689765 10689765 G A SNP PIEZO2 ENST00000538948 human ensembl 74_37 -1 known missense c.917 p.A306V 1.000 pfam_Piezo pfam_Piezo - no_errors PIEZO2 HGNC ENSG00000154864 68 0 0 70 12 14.6341 CEP76 0 genome.wustl.edu 37 18 12678251 12678251 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 18 12678251 12678251 C T SNP CEP76 ENST00000262127 human ensembl 74_37 -1 known missense c.1480 p.E494K 1.000 NULL superfamily_C2_dom - no_errors CEP76 HGNC ENSG00000101624 119 0 0 68 14 17.0732 DSEL 0 genome.wustl.edu 37 18 65178783 65178783 + Silent SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 18 65178783 65178783 T C SNP DSEL ENST00000310045 human ensembl 74_37 -1 known silent c.3093 p.G1031 0.146 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 95 0 0 62 19 23.4568 SALL3 0 genome.wustl.edu 37 18 76754298 76754298 + Silent SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 18 76754298 76754298 G T SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known silent c.2307 p.T769 0.994 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 39 0 0 33 5 13.1579 DCAF15 0 genome.wustl.edu 37 19 14069937 14069937 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 19 14069937 14069937 C T SNP DCAF15 ENST00000254337 human ensembl 74_37 +1 known missense c.865 p.P289S 0.996 NULL NULL - no_errors DCAF15 HGNC ENSG00000132017 82 0 0 65 23 26.1364 ZNF208 0 genome.wustl.edu 37 19 22156505 22156505 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 19 22156505 22156505 T G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.1331 p.K444T 0.050 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 ZNF208 HGNC ENSG00000160321 45 0 0 54 10 15.625 CHST8 0 genome.wustl.edu 37 19 34263938 34263938 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 19 34263938 34263938 C T SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known silent c.1245 p.N415 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 53 0 0 24 7 22.5806 CACTIN 0 genome.wustl.edu 37 19 3623972 3623972 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 19 3623972 3623972 G A SNP CACTIN ENST00000221899 human ensembl 74_37 -1 known missense c.152 p.A51V 0.000 NULL pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC ENSG00000105298 25 0 0 25 2 7.40741 BCKDHA 0 genome.wustl.edu 37 19 41903737 41903737 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 19 41903737 41903737 C T SNP BCKDHA ENST00000269980 human ensembl 74_37 +1 known missense c.5 p.A2V 1.000 NULL pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 55 0 0 47 14 22.9508 SH3GL1 0 genome.wustl.edu 37 19 4361603 4361603 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 19 4361603 4361603 C T SNP SH3GL1 ENST00000269886 human ensembl 74_37 -1 known silent c.1101 p.P367 0.959 superfamily_SH3_domain pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC ENSG00000141985 30 0 0 15 16 51.6129 EML2 0 genome.wustl.edu 37 19 46124767 46124767 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 19 46124767 46124767 C T SNP EML2 ENST00000587152 human ensembl 74_37 -1 known missense c.1573 p.D525N 0.992 superfamily_Quinonprotein_ADH-like_supfam,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 93 0 0 92 14 13.2075 ZNF677 0 genome.wustl.edu 37 19 53741699 53741699 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 19 53741699 53741699 A C SNP ZNF677 ENST00000333952 human ensembl 74_37 -1 known missense c.281 p.F94C 0.531 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 ZNF677 HGNC ENSG00000197928 51 0 0 29 46 61.3333 ZNF587 0 genome.wustl.edu 37 19 58370766 58370766 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 19 58370766 58370766 G A SNP ZNF587 ENST00000339656 human ensembl 74_37 +1 known missense c.986 p.C329Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF587 HGNC ENSG00000198466 103 1 0.961538 45 6 11.7647 RANBP3 0 genome.wustl.edu 37 19 5917643 5917643 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 19 5917643 5917643 C T SNP RANBP3 ENST00000340578 human ensembl 74_37 -1 known missense c.1682 p.G561E 1.000 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 14 0 0 10 8 44.4444 SCN3A 0 genome.wustl.edu 37 2 166032868 166032868 + Missense_Mutation SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 2 166032868 166032868 T C SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.37 p.S13G 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 106 0 0 48 10 17.2414 XIRP2 0 genome.wustl.edu 37 2 168100923 168100923 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 2 168100923 168100923 A C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.3021 p.E1007D 0.999 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 40 0 0 32 7 17.9487 TTN 0 genome.wustl.edu 37 2 179449516 179449516 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 2 179449516 179449516 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.57148 p.S19050P 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 258 0 0 170 30 15 TTN 0 genome.wustl.edu 37 2 179477622 179477622 + Missense_Mutation SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 2 179477622 179477622 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.42122 p.Q14041R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 47 0 0 28 4 12.5 TTN 0 genome.wustl.edu 37 2 179640750 179640750 + Silent SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 2 179640750 179640750 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.5841 p.P1947 0.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 188 0 0 93 20 17.6991 TTN 0 genome.wustl.edu 37 2 179644026 179644026 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 2 179644026 179644026 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.3893 p.K1298T 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 12 0 0 22 6 21.4286 ZNF804A 0 genome.wustl.edu 37 2 185802566 185802566 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 2 185802566 185802566 A C SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.2443 p.K815Q 0.998 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 48 0 0 39 4 9.30233 ZC3H15 0 genome.wustl.edu 37 2 187364917 187364917 + Missense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 2 187364917 187364917 G T SNP ZC3H15 ENST00000337859 human ensembl 74_37 +1 known missense c.186 p.Q62H 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H15 HGNC ENSG00000065548 9 0 0 18 8 30.7692 SPAG16 0 genome.wustl.edu 37 2 215013944 215013944 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 2 215013944 215013944 C T SNP SPAG16 ENST00000331683 human ensembl 74_37 +1 known silent c.1674 p.I558 0.994 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC ENSG00000144451 76 0 0 46 8 14.8148 CCDC108 0 genome.wustl.edu 37 2 219886565 219886565 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 2 219886565 219886565 T G SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.3067 p.T1023P 0.996 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 233 1 0.42735 112 69 38.1215 CLIP4 0 genome.wustl.edu 37 2 29404701 29404701 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 2 29404701 29404701 C T SNP CLIP4 ENST00000320081 human ensembl 74_37 +1 known missense c.2060 p.P687L 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 107 0 0 77 17 18.0851 RASGRP3 0 genome.wustl.edu 37 2 33783389 33783389 + Missense_Mutation SNP C C A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 2 33783389 33783389 C A SNP RASGRP3 ENST00000402538 human ensembl 74_37 +1 known missense c.1691 p.P564H 0.998 NULL pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP3 HGNC ENSG00000152689 32 0 0 13 5 27.7778 FSHR 0 genome.wustl.edu 37 2 49195912 49195912 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 2 49195912 49195912 T G SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.779 p.K260T 0.395 NULL pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 75 0 0 42 6 12.5 CD207 0 genome.wustl.edu 37 2 71058226 71058226 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 2 71058226 71058226 C T SNP CD207 ENST00000410009 human ensembl 74_37 -1 known silent c.942 p.T314 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD207 HGNC ENSG00000116031 43 0 0 32 3 8.57143 KDM3A 0 genome.wustl.edu 37 2 86712978 86712978 + Silent SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 2 86712978 86712978 T G SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known silent c.3309 p.A1103 0.998 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 47 0 0 39 11 22 SPTLC3 0 genome.wustl.edu 37 20 13098334 13098334 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 20 13098334 13098334 A C SNP SPTLC3 ENST00000399002 human ensembl 74_37 +1 known missense c.1114 p.S372R 1.000 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC3 HGNC ENSG00000172296 119 0 0 101 18 15.1261 BPIFB6 0 genome.wustl.edu 37 20 31625387 31625387 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 20 31625387 31625387 A G SNP BPIFB6 ENST00000349552 human ensembl 74_37 +1 known missense c.689 p.K230R 0.008 superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB6 HGNC ENSG00000167104 73 0 0 87 10 10.3093 MMP24 0 genome.wustl.edu 37 20 33842556 33842556 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 20 33842556 33842556 C T SNP MMP24 ENST00000246186 human ensembl 74_37 +1 known silent c.816 p.D272 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP24 HGNC ENSG00000125966 102 0 0 134 17 11.2583 ADAM33 0 genome.wustl.edu 37 20 3653524 3653524 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 20 3653524 3653524 G A SNP ADAM33 ENST00000356518 human ensembl 74_37 -1 known silent c.1155 p.F385 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM33 HGNC ENSG00000149451 12 0 0 24 9 27.2727 CSE1L 0 genome.wustl.edu 37 20 47679792 47679792 + Missense_Mutation SNP T T A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 20 47679792 47679792 T A SNP CSE1L ENST00000262982 human ensembl 74_37 +1 known missense c.139 p.L47M 1.000 pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 15 0 0 34 6 15 CTCFL 0 genome.wustl.edu 37 20 56078626 56078626 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 20 56078626 56078626 C T SNP CTCFL ENST00000423479 human ensembl 74_37 -1 known missense c.1706 p.G569E 0.015 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 94 0 0 105 21 16.6667 OSBPL2 0 genome.wustl.edu 37 20 60859112 60859112 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 20 60859112 60859112 C T SNP OSBPL2 ENST00000313733 human ensembl 74_37 +1 known missense c.883 p.L295F 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd - no_errors OSBPL2 HGNC ENSG00000130703 77 0 0 87 7 7.44681 COL20A1 0 genome.wustl.edu 37 20 61942989 61942989 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 20 61942989 61942989 C T SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known missense c.1552 p.R518W 0.021 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 19 0 0 41 12 22.6415 MYT1 0 genome.wustl.edu 37 20 62848470 62848470 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 20 62848470 62848470 G A SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.1682 p.R561Q 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 106 0 0 114 21 15.5556 TMPRSS15 0 genome.wustl.edu 37 21 19666630 19666630 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 21 19666630 19666630 C T SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.2443 p.V815I 0.141 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A 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 119 0 0 72 12 14.2857 KRTAP13-3 0 genome.wustl.edu 37 21 31797958 31797958 + Silent SNP A A T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 21 31797958 31797958 A T SNP KRTAP13-3 ENST00000390690 human ensembl 74_37 -1 known silent c.273 p.S91 0.002 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-3 HGNC ENSG00000240432 53 0 0 40 9 18.3673 TTC3 0 genome.wustl.edu 37 21 38529049 38529049 + Missense_Mutation SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 21 38529049 38529049 T C SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.2833 p.Y945H 0.997 NULL 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 51 0 0 35 6 14.6341 COL18A1 0 genome.wustl.edu 37 21 46914475 46914475 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 21 46914475 46914475 G A SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.3614 p.R1205Q 1.000 pfam_Collagen pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 64 0 0 44 10 18.5185 GGTLC2 0 genome.wustl.edu 37 22 22989705 22989705 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 22 22989705 22989705 G A SNP GGTLC2 ENST00000448514 human ensembl 74_37 +1 known missense c.476 p.R159Q 0.995 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC2 HGNC ENSG00000100121 70 0 0 46 7 13.2075 POM121L9P 0 genome.wustl.edu 37 22 24659813 24659813 + RNA SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 22 24659813 24659813 C T SNP POM121L9P ENST00000414583 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors POM121L9P HGNC ENSG00000128262 8 0 0 5 4 44.4444 MYO18B 0 genome.wustl.edu 37 22 26423267 26423267 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 22 26423267 26423267 G A SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.7327 p.D2443N 1.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 169 0 0 124 34 21.519 CRYBA4 0 genome.wustl.edu 37 22 27019290 27019290 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 22 27019290 27019290 G A SNP CRYBA4 ENST00000354760 human ensembl 74_37 +1 known silent c.132 p.V44 0.979 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA4 HGNC ENSG00000196431 105 0 0 72 24 25 NEFH 0 genome.wustl.edu 37 22 29885531 29885531 + Silent SNP C C A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 22 29885531 29885531 C A SNP NEFH ENST00000310624 human ensembl 74_37 +1 known silent c.1902 p.S634 0.403 pfam_DUF1388 pfam_IF,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 90 0 0 109 16 12.8 TMPRSS6 0 genome.wustl.edu 37 22 37462911 37462911 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 22 37462911 37462911 G A SNP TMPRSS6 ENST00000381792 human ensembl 74_37 -1 known silent c.2271 p.R757 0.998 pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS6 HGNC ENSG00000187045 53 0 0 45 7 13.4615 SUN2 0 genome.wustl.edu 37 22 39148610 39148610 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 22 39148610 39148610 G A SNP SUN2 ENST00000216064 human ensembl 74_37 -1 known silent c.24 p.L8 0.428 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 43 0 0 26 11 29.7297 FAM83F 0 genome.wustl.edu 37 22 40415897 40415897 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 22 40415897 40415897 C T SNP FAM83F ENST00000333407 human ensembl 74_37 +1 known missense c.664 p.R222C 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83F HGNC ENSG00000133477 97 0 0 44 9 16.9811 RRP7B 0 genome.wustl.edu 37 22 42969930 42969930 + RNA SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 22 42969930 42969930 T C SNP RRP7B ENST00000458605 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RRP7B HGNC ENSG00000182841 218 0 0 143 31 17.8161 MPPED1 0 genome.wustl.edu 37 22 43898608 43898608 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 22 43898608 43898608 G A SNP MPPED1 ENST00000538182 human ensembl 74_37 +1 known missense c.932 p.R311Q 0.988 pfam_PEstase_dom pfam_PEstase_dom - no_errors MPPED1 HGNC ENSG00000186732 100 0 0 81 11 11.9565 COL6A5 0 genome.wustl.edu 37 3 130095526 130095526 + Missense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 3 130095526 130095526 G T SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.514 p.A172S 0.462 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 36 0 0 29 6 17.1429 TRIM42 0 genome.wustl.edu 37 3 140401645 140401645 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 3 140401645 140401645 G A SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known missense c.683 p.R228H 1.000 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 123 0 0 167 54 24.4344 BCHE 0 genome.wustl.edu 37 3 165548524 165548524 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 3 165548524 165548524 T G SNP BCHE ENST00000264381 human ensembl 74_37 -1 known missense c.298 p.S100R 0.003 pfam_CarbesteraseB,prints_Cholinesterase pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 64 0 0 70 7 9.09091 RTP2 0 genome.wustl.edu 37 3 187416376 187416376 + Missense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 3 187416376 187416376 G T SNP RTP2 ENST00000358241 human ensembl 74_37 -1 known missense c.588 p.F196L 1.000 NULL NULL - no_errors RTP2 HGNC ENSG00000198471 79 0 0 120 15 11.1111 ZNF385D 0 genome.wustl.edu 37 3 21552434 21552434 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 3 21552434 21552434 A G SNP ZNF385D ENST00000281523 human ensembl 74_37 -1 known missense c.358 p.S120P 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 66 0 0 53 15 22.0588 ZNF197 0 genome.wustl.edu 37 3 44684845 44684845 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 3 44684845 44684845 G A SNP ZNF197 ENST00000344387 human ensembl 74_37 +1 known silent c.2223 p.K741 0.981 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,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_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF197 HGNC ENSG00000186448 100 0 0 82 14 14.5833 FYCO1 0 genome.wustl.edu 37 3 46016798 46016798 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 3 46016798 46016798 A G SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known missense c.328 p.Y110H 1.000 pfam_Run,pfscan_Run pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 80 0 0 41 10 19.6078 TLR9 0 genome.wustl.edu 37 3 52255257 52255257 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 3 52255257 52255257 G A SNP TLR9 ENST00000597542 human ensembl 74_37 -1 known silent c.3147 p.F1049 1.000 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR9 HGNC ENSG00000239732 168 0 0 145 36 19.8895 CNTN3 0 genome.wustl.edu 37 3 74349082 74349082 + Silent SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 3 74349082 74349082 T C SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known silent c.2103 p.E701 0.939 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_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 41 0 0 28 10 26.3158 KIAA1109 0 genome.wustl.edu 37 4 123170768 123170768 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 4 123170768 123170768 A G SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.5641 p.I1881V 0.969 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 50 0 0 47 7 12.963 ZFP42 0 genome.wustl.edu 37 4 188924770 188924770 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 4 188924770 188924770 C T SNP ZFP42 ENST00000326866 human ensembl 74_37 +1 known missense c.809 p.T270M 1.000 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ENSG00000179059 56 0 0 38 10 20.8333 TRIML2 0 genome.wustl.edu 37 4 189022224 189022224 + Missense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 4 189022224 189022224 G T SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.316 p.Q106K 0.433 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 37 0 0 13 5 27.7778 PPARGC1A 0 genome.wustl.edu 37 4 23816032 23816032 + Silent SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 4 23816032 23816032 G C SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known silent c.1074 p.L358 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 121 0 0 70 16 18.6047 KCTD8 0 genome.wustl.edu 37 4 44449793 44449793 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 4 44449793 44449793 C T SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known missense c.748 p.D250N 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 23 0 0 5 3 37.5 GABRA4 0 genome.wustl.edu 37 4 46979472 46979472 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 4 46979472 46979472 T G SNP GABRA4 ENST00000264318 human ensembl 74_37 -1 known missense c.449 p.K150T 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 23 0 0 18 4 18.1818 SYT14L 0 genome.wustl.edu 37 4 68928220 68928220 + RNA SNP A A T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 4 68928220 68928220 A T SNP SYT14L ENST00000600441 human ensembl 74_37 -1 known rna NULL NULL 0.064 - - - no_errors RP11-35D5.1 Clone_based_vega_gene ENSG00000215127 60 0 0 32 20 38.4615 CSN3 0 genome.wustl.edu 37 4 71115170 71115170 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 4 71115170 71115170 G A SNP CSN3 ENST00000304954 human ensembl 74_37 +1 known silent c.543 p.T181 0.000 pfam_Casein_kappa,pirsf_Casein_kappa pfam_Casein_kappa,pirsf_Casein_kappa - no_errors CSN3 HGNC ENSG00000171209 27 0 0 31 7 18.4211 PPBP 0 genome.wustl.edu 37 4 74853743 74853743 + Silent SNP C C G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 4 74853743 74853743 C G SNP PPBP ENST00000296028 human ensembl 74_37 -1 known silent c.78 p.L26 0.529 superfamily_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors PPBP HGNC ENSG00000163736 84 0 0 80 18 18.3673 THAP9 0 genome.wustl.edu 37 4 83840057 83840057 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 4 83840057 83840057 G A SNP THAP9 ENST00000302236 human ensembl 74_37 +1 known missense c.2692 p.D898N 0.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 19 0 0 38 9 19.1489 STPG2 0 genome.wustl.edu 37 4 98761987 98761987 + Silent SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 4 98761987 98761987 T G SNP STPG2 ENST00000295268 human ensembl 74_37 -1 known silent c.1141 p.R381 0.732 NULL NULL - no_errors STPG2 HGNC ENSG00000163116 91 0 0 57 11 16.1765 PCDHA11 0 genome.wustl.edu 37 5 140250309 140250309 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 5 140250309 140250309 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1621 p.V541M 0.233 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 202 0 0 224 41 15.4717 PCDHB3 0 genome.wustl.edu 37 5 140481632 140481632 + Missense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 5 140481632 140481632 G T SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1399 p.A467S 0.998 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 197 0 0 281 48 14.5897 ENSG00000255622 0 genome.wustl.edu 37 5 140536956 140536956 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 5 140536956 140536956 C T SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known silent c.1380 p.F460 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB17 Uniprot_gn ENSG00000255622 184 1 0.540541 192 100 34.2466 G3BP1 0 genome.wustl.edu 37 5 151183481 151183481 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 5 151183481 151183481 C T SNP G3BP1 ENST00000356245 human ensembl 74_37 +1 known silent c.1230 p.V410 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP1 HGNC ENSG00000145907 87 0 0 80 9 10.1124 GRIA1 0 genome.wustl.edu 37 5 153190744 153190744 + Missense_Mutation SNP A A T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 5 153190744 153190744 A T SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.2710 p.S904C 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 45 0 0 48 8 14.2857 HK3 0 genome.wustl.edu 37 5 176308331 176308331 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 5 176308331 176308331 C T SNP HK3 ENST00000292432 human ensembl 74_37 -1 known missense c.2599 p.D867N 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 177 1 0.561798 156 28 15.2174 ZNF354A 0 genome.wustl.edu 37 5 178154048 178154048 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 5 178154048 178154048 A C SNP ZNF354A ENST00000335815 human ensembl 74_37 -1 known missense c.112 p.L38V 0.755 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354A HGNC ENSG00000169131 90 0 0 88 20 18.5185 ZNF454 0 genome.wustl.edu 37 5 178392722 178392722 + Silent SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 5 178392722 178392722 T G SNP ZNF454 ENST00000320129 human ensembl 74_37 +1 known silent c.1317 p.P439 0.344 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 ZNF454 HGNC ENSG00000178187 60 0 0 80 9 10.1124 SPEF2 0 genome.wustl.edu 37 5 35753812 35753812 + Missense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 5 35753812 35753812 G T SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.3417 p.W1139C 1.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 128 0 0 68 14 17.0732 GPR98 0 genome.wustl.edu 37 5 89990008 89990008 + Missense_Mutation SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 5 89990008 89990008 T C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.7435 p.F2479L 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 59 0 0 28 7 20 PCSK1 0 genome.wustl.edu 37 5 95759123 95759123 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 5 95759123 95759123 A C SNP PCSK1 ENST00000311106 human ensembl 74_37 -1 known missense c.437 p.L146R 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 44 0 0 27 6 18.1818 SYNE1 0 genome.wustl.edu 37 6 152651961 152651961 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 6 152651961 152651961 A C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.13859 p.L4620R 0.990 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 120 0 0 70 23 24.7312 VIP 0 genome.wustl.edu 37 6 153078245 153078245 + Missense_Mutation SNP C C G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 6 153078245 153078245 C G SNP VIP ENST00000367244 human ensembl 74_37 +1 known missense c.482 p.S161C 0.157 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors VIP HGNC ENSG00000146469 18 0 0 17 9 34.6154 SCAF8 0 genome.wustl.edu 37 6 155139625 155139625 + Missense_Mutation SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 6 155139625 155139625 C T SNP SCAF8 ENST00000367186 human ensembl 74_37 +1 known missense c.1732 p.R578W 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 40 0 0 29 9 23.6842 HDGFL1 0 genome.wustl.edu 37 6 22569833 22569833 + Missense_Mutation SNP A A T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 6 22569833 22569833 A T SNP HDGFL1 ENST00000230012 human ensembl 74_37 +1 known missense c.29 p.K10M 0.070 pfam_PWWP_dom,smart_PWWP_dom pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFL1 HGNC ENSG00000112273 56 0 0 62 6 8.82353 OR5V1 0 genome.wustl.edu 37 6 29323304 29323304 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 6 29323304 29323304 G A SNP OR5V1 ENST00000377154 human ensembl 74_37 -1 known silent c.669 p.S223 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5V1 HGNC ENSG00000243729 60 0 0 91 15 14.1509 ENSG00000269490 0 genome.wustl.edu 37 6 33663460 33663460 + Silent SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 6 33663460 33663460 C T SNP ENSG00000269490 ENST00000594414 human ensembl 74_37 -1 novel silent c.15 p.L5 0.000 NULL NULL - no_errors SBP1 Uniprot_gn ENSG00000269490 101 0 0 95 21 18.1034 POLH 0 genome.wustl.edu 37 6 43571749 43571749 + Splice_Site SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 6 43571749 43571749 G C SNP POLH ENST00000372236 human ensembl 74_37 +1 known splice_site c.884+1 e6+1 1.000 - - - no_errors POLH HGNC ENSG00000170734 42 0 0 29 5 14.7059 BAI3 0 genome.wustl.edu 37 6 70065727 70065727 + Missense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 6 70065727 70065727 G T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.3570 p.K1190N 1.000 prints_GPCR_2_brain-spec_angio_inhib pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 20 0 0 78 7 8.23529 TBX18 0 genome.wustl.edu 37 6 85448259 85448259 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 6 85448259 85448259 A G SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known missense c.1055 p.L352P 0.990 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 189 0 0 175 24 12.0603 CLEC5A 0 genome.wustl.edu 37 7 141643744 141643744 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 7 141643744 141643744 T G SNP CLEC5A ENST00000546910 human ensembl 74_37 -1 known missense c.160 p.S54R 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC5A HGNC ENSG00000258227 125 0 0 101 15 12.931 PRSS3P2 0 genome.wustl.edu 37 7 142479940 142479940 + RNA SNP C C T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 7 142479940 142479940 C T SNP PRSS3P2 ENST00000603901 human ensembl 74_37 +1 known rna NULL NULL 0.933 - - - no_errors PRSS3P2 HGNC ENSG00000250606 48 0 0 37 5 11.9048 GRM3 0 genome.wustl.edu 37 7 86415890 86415890 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 7 86415890 86415890 G A SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.782 p.R261Q 0.994 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 90 0 0 62 11 15.0685 KIAA1324L 0 genome.wustl.edu 37 7 86541447 86541447 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 7 86541447 86541447 A C SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known missense c.2110 p.F704V 1.000 superfamily_Man6P_isomerase_rcpt-bd_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 106 0 0 66 19 22.3529 ZNF804B 0 genome.wustl.edu 37 7 88963199 88963199 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 7 88963199 88963199 A C SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.903 p.K301N 0.066 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 28 0 0 29 10 25.641 ZNF804B 0 genome.wustl.edu 37 7 88963252 88963252 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 7 88963252 88963252 G A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.956 p.G319D 0.001 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 23 0 0 26 9 25.7143 COL1A2 0 genome.wustl.edu 37 7 94058685 94058685 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 7 94058685 94058685 A C SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.3897 p.E1299D 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 46 0 0 34 11 24.4444 TRHR 0 genome.wustl.edu 37 8 110100335 110100335 + Silent SNP C C A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 8 110100335 110100335 C A SNP TRHR ENST00000311762 human ensembl 74_37 +1 known silent c.594 p.V198 0.974 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_TRH_rcpt_1,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_TRH_rcpt_1,prints_GPCR_Rhodpsn - no_errors TRHR HGNC ENSG00000174417 51 0 0 34 5 12.8205 PKHD1L1 0 genome.wustl.edu 37 8 110451303 110451303 + Missense_Mutation SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 8 110451303 110451303 G C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.3938 p.W1313S 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 58 0 0 88 18 16.9811 TRPS1 0 genome.wustl.edu 37 8 116632071 116632071 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 8 116632071 116632071 T G SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.254 p.K85T 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 75 0 0 50 16 24.2424 PLEC 0 genome.wustl.edu 37 8 145002133 145002133 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 8 145002133 145002133 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.3699 p.R1233 0.995 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 24 0 0 15 4 21.0526 CSMD1 0 genome.wustl.edu 37 8 3087592 3087592 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 8 3087592 3087592 A C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.4318 p.F1440V 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 63 0 0 34 5 12.8205 IDO2 0 genome.wustl.edu 37 8 39792685 39792685 + RNA SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 8 39792685 39792685 T C SNP IDO2 ENST00000343295 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors IDO2 HGNC ENSG00000188676 60 0 0 79 19 19.3878 CYP7B1 0 genome.wustl.edu 37 8 65509467 65509467 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 8 65509467 65509467 A C SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known missense c.1253 p.F418C 0.992 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 34 0 0 26 5 16.129 PREX2 0 genome.wustl.edu 37 8 69046425 69046425 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 8 69046425 69046425 A C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.3898 p.T1300P 0.990 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 81 0 0 77 11 12.5 WWP1 0 genome.wustl.edu 37 8 87473501 87473501 + Missense_Mutation SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 8 87473501 87473501 G C SNP WWP1 ENST00000265428 human ensembl 74_37 +1 known missense c.2548 p.V850L 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors WWP1 HGNC ENSG00000123124 83 0 0 68 10 12.8205 VPS13A 0 genome.wustl.edu 37 9 79842333 79842333 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 9 79842333 79842333 G A SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.1384 p.E462K 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 15 0 0 16 7 30.4348 PSAT1 0 genome.wustl.edu 37 9 80919766 80919766 + Missense_Mutation SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 9 80919766 80919766 G A SNP PSAT1 ENST00000376588 human ensembl 74_37 +1 known missense c.307 p.V103M 1.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr - no_errors PSAT1 HGNC ENSG00000135069 121 0 0 69 23 25 DCAF12L1 0 genome.wustl.edu 37 X 125685428 125685428 + Silent SNP G G A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa X 125685428 125685428 G A SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known silent c.1164 p.S388 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 54 0 0 51 18 26.087 IGSF1 0 genome.wustl.edu 37 X 130416664 130416664 + Missense_Mutation SNP G G T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa X 130416664 130416664 G T SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.1000 p.Q334K 0.830 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 42 0 0 29 9 23.6842 MAGEC3 0 genome.wustl.edu 37 X 140953339 140953339 + Missense_Mutation SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa X 140953339 140953339 G C SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.206 p.G69A 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 88 0 0 32 15 31.9149 PTCHD1 0 genome.wustl.edu 37 X 23411256 23411256 + Missense_Mutation SNP T T C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa X 23411256 23411256 T C SNP PTCHD1 ENST00000379361 human ensembl 74_37 +1 known missense c.1621 p.Y541H 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 72 0 0 44 12 21.4286 MXRA5 0 genome.wustl.edu 37 X 3228891 3228891 + Silent SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa X 3228891 3228891 A G SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.7353 p.T2451 0.002 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 35 0 0 35 4 10.2564 CXorf22 0 genome.wustl.edu 37 X 35971836 35971836 + Missense_Mutation SNP A A G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa X 35971836 35971836 A G SNP CXorf22 ENST00000297866 human ensembl 74_37 +1 known missense c.1174 p.S392G 0.989 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 9 0 0 5 6 54.5455 TRO 0 genome.wustl.edu 37 X 54953054 54953054 + Missense_Mutation SNP C C A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa X 54953054 54953054 C A SNP TRO ENST00000173898 human ensembl 74_37 +1 known missense c.1696 p.P566T 0.944 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 92 0 0 28 53 65.4321 MTMR8 0 genome.wustl.edu 37 X 63569939 63569939 + Silent SNP G G C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa X 63569939 63569939 G C SNP MTMR8 ENST00000374852 human ensembl 74_37 -1 known silent c.480 p.T160 0.964 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR8 HGNC ENSG00000102043 24 0 0 25 11 30.5556 NAP1L2 0 genome.wustl.edu 37 X 72433060 72433060 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa X 72433060 72433060 T G SNP NAP1L2 ENST00000373517 human ensembl 74_37 -1 known missense c.1269 p.E423D 1.000 NULL pfam_NAP_family - no_errors NAP1L2 HGNC ENSG00000186462 17 0 0 18 10 35.7143 KIAA2022 0 genome.wustl.edu 37 X 73959940 73959940 + Missense_Mutation SNP T T G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa X 73959940 73959940 T G SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.4452 p.K1484N 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 27 0 0 25 13 34.2105 KIAA2022 0 genome.wustl.edu 37 X 73962104 73962104 + Missense_Mutation SNP A A C TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa X 73962104 73962104 A C SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.2288 p.V763G 0.020 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 45 0 0 29 10 25.641 KCND3 0 genome.wustl.edu 37 1 112524444 112524445 + Frame_Shift_Ins INS - - G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 112524444 112524445 - G INS KCND3 ENST00000315987 human ensembl 74_37 -1 known frame_shift_ins c.905_904 p.R302fs 1.000:1.000 pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 91 0 0 71 7 8.97436 CDC42BPA 0 genome.wustl.edu 37 1 227222430 227222430 + Frame_Shift_Del DEL T T - TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 1 227222430 227222430 T - DEL CDC42BPA ENST00000334218 human ensembl 74_37 -1 known frame_shift_del c.3297 p.K1099fs 0.995 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 95 0 0 77 14 15.3846 CES1 0 genome.wustl.edu 37 16 55844924 55844925 + Splice_Site INS - - A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 16 55844924 55844925 - A INS CES1 ENST00000360526 human ensembl 74_37 -1 known splice_site_ins c.1087-3_1087-2 e10-2 0.013:0.013 - - - no_errors CES1 HGNC ENSG00000198848 14 0 0 16 4 20 ERMN 0 genome.wustl.edu 37 2 158178061 158178062 + In_Frame_Ins INS - - ATC TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 2 158178061 158178062 - ATC INS ERMN ENST00000397283 human ensembl 74_37 -1 known in_frame_ins c.616_615 p.205in_frame_insD 0.261:0.346 NULL superfamily_Moesin_tail - no_errors ERMN HGNC ENSG00000136541 95 0 0 67 7 9.45946 NSFL1C 0 genome.wustl.edu 37 20 1426464 1426465 + Frame_Shift_Ins INS - - G TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 20 1426464 1426465 - G INS NSFL1C ENST00000350991 human ensembl 74_37 -1 known frame_shift_ins c.803_802 p.Q268fs 1.000:1.000 superfamily_SEP_domain,smart_SEP_domain pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,superfamily_UBA-like,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors NSFL1C HGNC ENSG00000088833 172 0 0 189 21 10 C5orf24 0 genome.wustl.edu 37 5 134190974 134190974 + Frame_Shift_Del DEL A A - TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 5 134190974 134190974 A - DEL C5orf24 ENST00000338051 human ensembl 74_37 +1 known frame_shift_del c.384 p.T129fs 0.997 NULL NULL - no_errors C5orf24 HGNC ENSG00000181904 167 0 0 137 16 10.4575 KIAA1919 0 genome.wustl.edu 37 6 111587361 111587361 + Frame_Shift_Del DEL T T - TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 6 111587361 111587361 T - DEL KIAA1919 ENST00000368847 human ensembl 74_37 +1 known frame_shift_del c.596 p.C202fs 0.469 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 41 0 0 16 2 11.1111 LEPROTL1 0 genome.wustl.edu 37 8 29961840 29961841 + Frame_Shift_Ins INS - - T TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 8 29961840 29961841 - T INS LEPROTL1 ENST00000523116 human ensembl 74_37 +1 known frame_shift_ins c.117_118 p.Y41fs 1.000:1.000 pfam_VPS55 pfam_VPS55 - no_errors LEPROTL1 HGNC ENSG00000104660 40 0 0 31 12 27.907 CSPP1 0 genome.wustl.edu 37 8 68076630 68076631 + Frame_Shift_Ins INS - - A TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa 8 68076630 68076631 - A INS CSPP1 ENST00000262210 human ensembl 74_37 +1 known frame_shift_ins c.2700_2701 p.N902fs 1.000:1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 42 0 0 44 11 20 XIST 0 genome.wustl.edu 37 X 73071846 73071846 + RNA DEL A A - TCGA-CD-A487-01A-21D-A24D-08 TCGA-CD-A487-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2697d19-16d0-4862-8b7f-14614f30a796 de4f77ac-9ca4-4202-bf11-9c418ac9befa X 73071846 73071846 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 22 0 0 22 3 12