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 VPS13D 0 genome.wustl.edu 37 1 12414216 12414216 + Missense_Mutation SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 1 12414216 12414216 C T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.9617 p.T3206M 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 132 0 0 61 8 11.5942 HNRNPCL1 0 genome.wustl.edu 37 1 12907860 12907860 + Missense_Mutation SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 1 12907860 12907860 C T SNP HNRNPCL1 ENST00000317869 human ensembl 74_37 -1 known missense c.283 p.A95T 0.115 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC ENSG00000179172 319 0 0 174 12 6.45161 LRRN2 0 genome.wustl.edu 37 1 204588700 204588700 + Missense_Mutation SNP C C G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 1 204588700 204588700 C G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.421 p.A141P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 281 0 0 102 38 27.1429 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 295 0 0 100 51 33.7748 RYR2 0 genome.wustl.edu 37 1 237494273 237494273 + Missense_Mutation SNP A A T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 1 237494273 237494273 A T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.257 p.N86I 0.112 pfam_Ins145_P3_rcpt pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 106 0 0 41 24 36.9231 ZCCHC11 0 genome.wustl.edu 37 1 52901122 52901122 + Missense_Mutation SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 1 52901122 52901122 C T SNP ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known missense c.4178 p.R1393H 0.994 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 68 0 0 27 6 18.1818 PGM1 0 genome.wustl.edu 37 1 64114301 64114301 + Missense_Mutation SNP T T C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 1 64114301 64114301 T C SNP PGM1 ENST00000371083 human ensembl 74_37 +1 known missense c.1312 p.Y438H 1.000 pfam_A-D-PHexomutase_a/b/a-III,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM1 HGNC ENSG00000079739 115 0 0 46 4 8 ADD3 0 genome.wustl.edu 37 10 111860580 111860580 + Nonsense_Mutation SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 10 111860580 111860580 C T SNP ADD3 ENST00000356080 human ensembl 74_37 +1 known nonsense c.169 p.R57* 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 69 0 0 33 9 21.4286 SMC3 0 genome.wustl.edu 37 10 112350788 112350788 + Silent SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 10 112350788 112350788 G A SNP SMC3 ENST00000361804 human ensembl 74_37 +1 known silent c.1710 p.T570 0.496 pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 116 0 0 50 12 19.3548 CCAR1 0 genome.wustl.edu 37 10 70496773 70496773 + Missense_Mutation SNP C C A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 10 70496773 70496773 C A SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.214 p.Q72K 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 72 0 0 53 22 29.3333 NUTM2B 0 genome.wustl.edu 37 10 81465798 81465798 + Missense_Mutation SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 10 81465798 81465798 C T SNP NUTM2B ENST00000429828 human ensembl 74_37 +1 known missense c.383 p.A128V 0.326 NULL NULL - no_errors NUTM2B HGNC ENSG00000188199 10 0 0 8 4 33.3333 UBTD1 0 genome.wustl.edu 37 10 99329965 99329965 + Silent SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 10 99329965 99329965 G A SNP UBTD1 ENST00000370664 human ensembl 74_37 +1 known silent c.369 p.P123 0.653 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBTD1 HGNC ENSG00000165886 184 0 0 89 5 5.31915 LDHAL6A 0 genome.wustl.edu 37 11 18478331 18478331 + Missense_Mutation SNP G G T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 11 18478331 18478331 G T SNP LDHAL6A ENST00000280706 human ensembl 74_37 +1 known missense c.104 p.C35F 1.000 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHAL6A HGNC ENSG00000166800 127 0 0 44 11 20 DCDC1 0 genome.wustl.edu 37 11 31086577 31086577 + Missense_Mutation SNP A A C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 11 31086577 31086577 A C SNP DCDC1 ENST00000597505 human ensembl 74_37 -1 putative missense c.2422 p.L808V 0.924 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 62 0 0 29 8 21.6216 ACCS 0 genome.wustl.edu 37 11 44101118 44101118 + Silent SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 11 44101118 44101118 C T SNP ACCS ENST00000263776 human ensembl 74_37 +1 known silent c.871 p.L291 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCS HGNC ENSG00000110455 31 0 0 31 2 6.06061 HBG2 0 genome.wustl.edu 37 11 5275627 5275627 + Silent SNP A A C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 11 5275627 5275627 A C SNP HBG2 ENST00000336906 human ensembl 74_37 -1 known silent c.210 p.T70 0.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Myoglobin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin - no_errors HBG2 HGNC ENSG00000196565 261 0 0 151 14 8.48485 TRIM51HP 0 genome.wustl.edu 37 11 55065534 55065534 + RNA SNP T T G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 11 55065534 55065534 T G SNP TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.037 - - - no_errors TRIM51HP HGNC ENSG00000166007 36 0 0 23 8 25.8065 OR4A15 0 genome.wustl.edu 37 11 55135904 55135904 + Missense_Mutation SNP T T G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 11 55135904 55135904 T G SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known missense c.545 p.L182R 0.027 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A15 HGNC ENSG00000181958 248 0 0 139 25 15.2439 OR5D13 0 genome.wustl.edu 37 11 55541046 55541046 + Missense_Mutation SNP T T G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 11 55541046 55541046 T G SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.133 p.L45V 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 OR5D13 HGNC ENSG00000198877 171 0 0 116 26 18.3099 OR5I1 0 genome.wustl.edu 37 11 55703785 55703785 + Missense_Mutation SNP A A G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 11 55703785 55703785 A G SNP OR5I1 ENST00000301532 human ensembl 74_37 -1 known missense c.92 p.L31P 0.148 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5I1 HGNC ENSG00000167825 82 0 0 44 14 24.1379 OR52E6 0 genome.wustl.edu 37 11 5862875 5862875 + Missense_Mutation SNP C C G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 11 5862875 5862875 C G SNP OR52E6 ENST00000379946 human ensembl 74_37 -1 known missense c.265 p.G89R 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E6 HGNC ENSG00000205409 233 0 0 139 8 5.44218 B3GAT3 0 genome.wustl.edu 37 11 62384793 62384793 + Missense_Mutation SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 11 62384793 62384793 C T SNP B3GAT3 ENST00000265471 human ensembl 74_37 -1 known missense c.284 p.R95Q 1.000 NULL pfam_Glyco_trans_43 - no_errors B3GAT3 HGNC ENSG00000149541 83 0 0 18 3 14.2857 OR2D3 0 genome.wustl.edu 37 11 6942565 6942565 + Silent SNP T T C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 11 6942565 6942565 T C SNP OR2D3 ENST00000317834 human ensembl 74_37 +1 known silent c.333 p.Y111 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2D3 HGNC ENSG00000178358 239 0 0 109 14 11.3821 KRTAP5-10 0 genome.wustl.edu 37 11 71276865 71276865 + Missense_Mutation SNP G G C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 11 71276865 71276865 G C SNP KRTAP5-10 ENST00000398531 human ensembl 74_37 +1 known missense c.232 p.G78R 1.000 NULL NULL - no_errors KRTAP5-10 HGNC ENSG00000204572 449 0 0 166 9 5.14286 CKAP4 0 genome.wustl.edu 37 12 106633241 106633241 + Missense_Mutation SNP C C A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 12 106633241 106633241 C A SNP CKAP4 ENST00000378026 human ensembl 74_37 -1 known missense c.1370 p.G457V 0.170 NULL superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil - no_errors CKAP4 HGNC ENSG00000136026 97 0 0 41 6 12.766 PRB2 0 genome.wustl.edu 37 12 11545866 11545866 + Silent SNP A A G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 12 11545866 11545866 A G SNP PRB2 ENST00000389362 human ensembl 74_37 -1 known silent c.1146 p.P382 0.029 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 185 0 0 76 20 20.8333 CCDC60 0 genome.wustl.edu 37 12 119968812 119968812 + Missense_Mutation SNP C C A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 12 119968812 119968812 C A SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known missense c.1495 p.L499M 1.000 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 112 0 0 67 4 5.6338 MLXIP 0 genome.wustl.edu 37 12 122618125 122618125 + Silent SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 12 122618125 122618125 C T SNP MLXIP ENST00000319080 human ensembl 74_37 +1 known silent c.1323 p.P441 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIP HGNC ENSG00000175727 33 0 0 3 12 80 CACNA1C 0 genome.wustl.edu 37 12 2693707 2693707 + Missense_Mutation SNP A A G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 12 2693707 2693707 A G SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.2263 p.N755D 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 114 0 0 31 9 22.5 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 124 0 0 23 27 54 PTPRB 0 genome.wustl.edu 37 12 70963671 70963671 + Missense_Mutation SNP C C A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 12 70963671 70963671 C A SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known missense c.3418 p.D1140Y 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 59 0 0 20 19 48.7179 ZFC3H1 0 genome.wustl.edu 37 12 72025967 72025967 + Nonsense_Mutation SNP C C A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 12 72025967 72025967 C A SNP ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known nonsense c.3145 p.E1049* 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 189 0 0 113 9 7.37705 NALCN 0 genome.wustl.edu 37 13 101755585 101755585 + Missense_Mutation SNP G G C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 13 101755585 101755585 G C SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.2995 p.L999V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 156 0 0 84 6 6.66667 NUPL1 0 genome.wustl.edu 37 13 25887119 25887119 + Missense_Mutation SNP A A G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 13 25887119 25887119 A G SNP NUPL1 ENST00000381736 human ensembl 74_37 +1 known missense c.385 p.T129A 1.000 NULL NULL - no_errors NUPL1 HGNC ENSG00000139496 78 0 0 47 4 7.84314 ATP8A2 0 genome.wustl.edu 37 13 26153950 26153950 + Missense_Mutation SNP G G T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 13 26153950 26153950 G T SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.1872 p.L624F 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A2 HGNC ENSG00000132932 145 1 0.684932 42 34 44.7368 TDRD3 0 genome.wustl.edu 37 13 61103242 61103242 + Missense_Mutation SNP C C G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 13 61103242 61103242 C G SNP TDRD3 ENST00000535286 human ensembl 74_37 +1 known missense c.1883 p.S628C 1.000 NULL pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 94 0 0 39 15 27.7778 COMMD6 0 genome.wustl.edu 37 13 76111694 76111694 + RNA SNP G G C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 13 76111694 76111694 G C SNP COMMD6 ENST00000471682 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COMMD6 HGNC ENSG00000188243 27 0 0 3 13 81.25 IPO5 0 genome.wustl.edu 37 13 98652834 98652834 + Missense_Mutation SNP G G T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 13 98652834 98652834 G T SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.1097 p.C366F 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 133 0 0 22 38 63.3333 AKAP6 0 genome.wustl.edu 37 14 33292089 33292089 + Missense_Mutation SNP A A C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 14 33292089 33292089 A C SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.5070 p.E1690D 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 123 0 0 72 9 11.1111 PSMA3 0 genome.wustl.edu 37 14 58711616 58711616 + RNA SNP C C G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 14 58711616 58711616 C G SNP PSMA3 ENST00000554456 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PSMA3 HGNC ENSG00000100567 124 0 0 36 10 21.7391 SIX1 0 genome.wustl.edu 37 14 61113012 61113012 + Missense_Mutation SNP A A C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 14 61113012 61113012 A C SNP SIX1 ENST00000247182 human ensembl 74_37 -1 known missense c.844 p.L282V 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX1 HGNC ENSG00000126778 101 0 0 40 5 11.1111 UNC79 0 genome.wustl.edu 37 14 94044282 94044282 + Missense_Mutation SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 14 94044282 94044282 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.2306 p.R769H 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 346 0 0 124 35 22.0126 UNC79 0 genome.wustl.edu 37 14 94069764 94069764 + Nonsense_Mutation SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 14 94069764 94069764 C T SNP UNC79 ENST00000393151 human ensembl 74_37 +1 known nonsense c.3754 p.R1252* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,superfamily_P-loop_NTPase - no_errors UNC79 HGNC ENSG00000133958 48 0 0 23 4 14.8148 LRRK1 0 genome.wustl.edu 37 15 101562793 101562793 + Silent SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 15 101562793 101562793 G A SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known silent c.2058 p.S686 0.066 pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_P-loop_NTPase pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 29 0 0 15 5 25 CHEK2P2 0 genome.wustl.edu 37 15 20488824 20488824 + RNA SNP T T G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 15 20488824 20488824 T G SNP CHEK2P2 ENST00000555186 human ensembl 74_37 +1 known rna NULL NULL 0.978 - - - no_errors CHEK2P2 HGNC ENSG00000259156 350 0 0 169 11 6.11111 SNORD115-38 0 genome.wustl.edu 37 15 25485003 25485003 + RNA SNP T T G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 15 25485003 25485003 T G SNP SNORD115-38 ENST00000365037 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors SNORD115-38 HGNC ENSG00000201907 604 1 0.165289 183 64 25.9109 DMXL2 0 genome.wustl.edu 37 15 51766637 51766637 + Missense_Mutation SNP C C A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 15 51766637 51766637 C A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.7117 p.A2373S 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 108 0 0 17 14 45.1613 CES2 0 genome.wustl.edu 37 16 66974398 66974398 + Missense_Mutation SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 16 66974398 66974398 C T SNP CES2 ENST00000317091 human ensembl 74_37 +1 known missense c.808 p.R270C 0.732 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES2 HGNC ENSG00000172831 109 0 0 55 5 8.33333 DPEP3 0 genome.wustl.edu 37 16 68011862 68011862 + Silent SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 16 68011862 68011862 G A SNP DPEP3 ENST00000268793 human ensembl 74_37 -1 known silent c.810 p.S270 0.012 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP3 HGNC ENSG00000141096 107 0 0 27 6 18.1818 SF3B3 0 genome.wustl.edu 37 16 70563087 70563087 + Missense_Mutation SNP C C G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 16 70563087 70563087 C G SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known missense c.382 p.R128G 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 128 1 0.775194 47 18 27.6923 GLG1 0 genome.wustl.edu 37 16 74487138 74487138 + Missense_Mutation SNP C C A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 16 74487138 74487138 C A SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known missense c.3467 p.C1156F 0.993 NULL pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 195 0 0 39 25 39.0625 KRT16 0 genome.wustl.edu 37 17 39767724 39767724 + Missense_Mutation SNP G G C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 17 39767724 39767724 G C SNP KRT16 ENST00000301653 human ensembl 74_37 -1 known missense c.644 p.T215S 0.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT16 HGNC ENSG00000186832 139 0 0 52 5 8.77193 SPATA20 0 genome.wustl.edu 37 17 48628510 48628510 + Missense_Mutation SNP C C A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 17 48628510 48628510 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known missense c.1535 p.P512H 1.000 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 54 0 0 11 8 42.1053 SPATA20 0 genome.wustl.edu 37 17 48628511 48628511 + Silent SNP C C A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 17 48628511 48628511 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known silent c.1536 p.P512 0.001 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 55 0 0 9 9 50 TP53 0 genome.wustl.edu 37 17 7579355 7579355 + Missense_Mutation SNP A A T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 17 7579355 7579355 A T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.332 p.L111Q 0.684 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 185 0 0 39 24 38.0952 DNAH2 0 genome.wustl.edu 37 17 7699901 7699901 + Silent SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 17 7699901 7699901 C T SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known silent c.7794 p.T2598 0.271 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 131 0 0 36 6 14.2857 ATP9B 0 genome.wustl.edu 37 18 77096644 77096644 + Missense_Mutation SNP G G C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 18 77096644 77096644 G C SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.2045 p.R682P 0.832 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 63 0 0 9 11 55 COMP 0 genome.wustl.edu 37 19 18893969 18893969 + Missense_Mutation SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 19 18893969 18893969 C T SNP COMP ENST00000222271 human ensembl 74_37 -1 known missense c.2122 p.D708N 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors COMP HGNC ENSG00000105664 93 0 0 26 8 23.5294 ZNF730 0 genome.wustl.edu 37 19 23329342 23329342 + Missense_Mutation SNP A A C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 19 23329342 23329342 A C SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known missense c.1496 p.K499T 0.998 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 ZNF730 HGNC ENSG00000183850 30 0 0 21 7 25 ZFP14 0 genome.wustl.edu 37 19 36832099 36832099 + Missense_Mutation SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 19 36832099 36832099 C T SNP ZFP14 ENST00000270001 human ensembl 74_37 -1 known missense c.629 p.R210K 0.528 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 ZFP14 HGNC ENSG00000142065 159 0 0 105 27 20.4545 ZFP82 0 genome.wustl.edu 37 19 36884060 36884060 + Silent SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 19 36884060 36884060 G A SNP ZFP82 ENST00000392161 human ensembl 74_37 -1 known silent c.1182 p.Y394 0.970 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 ZFP82 HGNC ENSG00000181007 187 0 0 95 28 22.7642 CIC 0 genome.wustl.edu 37 19 42795827 42795827 + Missense_Mutation SNP G G C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 19 42795827 42795827 G C SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2816 p.G939A 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 231 0 0 66 9 12 PSG8 0 genome.wustl.edu 37 19 43268240 43268240 + Silent SNP A A G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 19 43268240 43268240 A G SNP PSG8 ENST00000306511 human ensembl 74_37 -1 known silent c.258 p.G86 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG8 HGNC ENSG00000124467 596 0 0 225 92 29.0221 PSG11 0 genome.wustl.edu 37 19 43522985 43522985 + Missense_Mutation SNP C C G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 19 43522985 43522985 C G SNP PSG11 ENST00000320078 human ensembl 74_37 -1 known missense c.646 p.E216Q 0.459 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG11 HGNC ENSG00000243130 646 0 0 196 73 27.1375 PLA2G4C 0 genome.wustl.edu 37 19 48598787 48598787 + Missense_Mutation SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 19 48598787 48598787 C T SNP PLA2G4C ENST00000599111 human ensembl 74_37 -1 known missense c.673 p.G225R 0.841 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4C HGNC ENSG00000105499 362 0 0 108 31 22.3022 TMC4 0 genome.wustl.edu 37 19 54676754 54676754 + Missense_Mutation SNP G G C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 19 54676754 54676754 G C SNP TMC4 ENST00000301187 human ensembl 74_37 -1 known missense c.59 p.A20G 0.989 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 468 1 0.21322 176 17 8.80829 ZNF776 0 genome.wustl.edu 37 19 58265398 58265398 + Silent SNP T T G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 19 58265398 58265398 T G SNP ZNF776 ENST00000317178 human ensembl 74_37 +1 known silent c.900 p.S300 0.002 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 ZNF776 HGNC ENSG00000152443 159 0 0 85 26 23.4234 ZNF446 0 genome.wustl.edu 37 19 58992030 58992030 + Silent SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 19 58992030 58992030 C T SNP ZNF446 ENST00000594369 human ensembl 74_37 +1 known silent c.1290 p.R430 0.001 smart_Znf_C2H2-like,pfscan_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_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 90 0 0 46 4 8 MKI67IP 0 genome.wustl.edu 37 2 122489750 122489750 + Missense_Mutation SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 2 122489750 122489750 C T SNP MKI67IP ENST00000285814 human ensembl 74_37 -1 known missense c.274 p.E92K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MKI67IP HGNC ENSG00000155438 84 0 0 51 4 7.27273 CNTNAP5 0 genome.wustl.edu 37 2 125530443 125530443 + Silent SNP T T G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 2 125530443 125530443 T G SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known silent c.2598 p.P866 0.001 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 170 0 0 63 21 25 LRP1B 0 genome.wustl.edu 37 2 141641574 141641574 + Missense_Mutation SNP T T A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 2 141641574 141641574 T A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.3981 p.E1327D 0.999 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 127 0 0 64 5 7.24638 TTN 0 genome.wustl.edu 37 2 179428698 179428698 + Missense_Mutation SNP A A C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 2 179428698 179428698 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.74457 p.C24819W 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 138 0 0 73 15 17.0455 PLCL1 0 genome.wustl.edu 37 2 198949824 198949824 + Missense_Mutation SNP C C A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 2 198949824 198949824 C A SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.1583 p.P528Q 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 72 0 0 44 8 15.3846 TYW5 0 genome.wustl.edu 37 2 200820176 200820176 + Silent SNP G G C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 2 200820176 200820176 G C SNP TYW5 ENST00000354611 human ensembl 74_37 -1 known silent c.18 p.L6 0.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors TYW5 HGNC ENSG00000162971 29 0 0 17 5 22.7273 DNER 0 genome.wustl.edu 37 2 230456508 230456508 + Missense_Mutation SNP C C G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 2 230456508 230456508 C G SNP DNER ENST00000341772 human ensembl 74_37 -1 known missense c.373 p.E125Q 0.950 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 69 0 0 29 3 9.375 HDLBP 0 genome.wustl.edu 37 2 242178175 242178175 + Missense_Mutation SNP T T C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 2 242178175 242178175 T C SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.2638 p.I880V 0.999 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 696 0 0 205 64 23.7918 RTN4 0 genome.wustl.edu 37 2 55254410 55254410 + Missense_Mutation SNP C C G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 2 55254410 55254410 C G SNP RTN4 ENST00000337526 human ensembl 74_37 -1 known missense c.825 p.E275D 0.052 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 113 0 0 55 20 26.6667 RTN4 0 genome.wustl.edu 37 2 55254424 55254424 + Missense_Mutation SNP C C G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 2 55254424 55254424 C G SNP RTN4 ENST00000337526 human ensembl 74_37 -1 known missense c.811 p.E271Q 0.957 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 116 0 0 60 17 22.0779 ENSG00000237077 0 genome.wustl.edu 37 2 78020086 78020086 + RNA SNP T T G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 2 78020086 78020086 T G SNP ENSG00000237077 ENST00000422418 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors AC105399.2 Clone_based_vega_gene ENSG00000237077 40 0 0 11 4 26.6667 CST8 0 genome.wustl.edu 37 20 23473638 23473638 + Missense_Mutation SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 20 23473638 23473638 G A SNP CST8 ENST00000246012 human ensembl 74_37 +1 known missense c.275 p.R92H 0.997 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST8 HGNC ENSG00000125815 336 0 0 156 20 11.3636 CST1 0 genome.wustl.edu 37 20 23729745 23729745 + Missense_Mutation SNP A A C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 20 23729745 23729745 A C SNP CST1 ENST00000304749 human ensembl 74_37 -1 known missense c.250 p.F84V 0.007 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST1 HGNC ENSG00000170373 218 0 0 189 21 10 NPEPL1 0 genome.wustl.edu 37 20 57268953 57268953 + Missense_Mutation SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 20 57268953 57268953 C T SNP NPEPL1 ENST00000356091 human ensembl 74_37 +1 known missense c.311 p.P104L 1.000 NULL pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB - no_errors NPEPL1 HGNC ENSG00000215440 36 0 0 16 5 23.8095 MCM8 0 genome.wustl.edu 37 20 5948171 5948171 + Missense_Mutation SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 20 5948171 5948171 G A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.965 p.S322N 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 152 0 0 65 34 34.3434 CRYZL1 0 genome.wustl.edu 37 21 34971477 34971477 + Missense_Mutation SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 21 34971477 34971477 C T SNP CRYZL1 ENST00000381554 human ensembl 74_37 -1 known missense c.655 p.D219N 0.998 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors CRYZL1 HGNC ENSG00000205758 104 0 0 41 6 12.766 CRYZL1 0 genome.wustl.edu 37 21 34971482 34971482 + Missense_Mutation SNP C C A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 21 34971482 34971482 C A SNP CRYZL1 ENST00000381554 human ensembl 74_37 -1 known missense c.650 p.G217V 1.000 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors CRYZL1 HGNC ENSG00000205758 105 0 0 41 5 10.8696 CRYZL1 0 genome.wustl.edu 37 21 34971513 34971513 + Missense_Mutation SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 21 34971513 34971513 C T SNP CRYZL1 ENST00000381554 human ensembl 74_37 -1 known missense c.619 p.E207K 1.000 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors CRYZL1 HGNC ENSG00000205758 108 0 0 43 7 14 UMODL1 0 genome.wustl.edu 37 21 43546460 43546460 + Missense_Mutation SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 21 43546460 43546460 G A SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.3537 p.M1179I 0.530 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 88 0 0 26 12 31.5789 UMODL1 0 genome.wustl.edu 37 21 43546475 43546475 + Silent SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 21 43546475 43546475 G A SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known silent c.3552 p.V1184 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 94 0 0 27 12 30.7692 UMODL1 0 genome.wustl.edu 37 21 43546526 43546526 + Silent SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 21 43546526 43546526 G A SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known silent c.3603 p.L1201 0.709 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 82 0 0 29 10 25.641 TUBA3FP 0 genome.wustl.edu 37 22 21363306 21363306 + RNA SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 22 21363306 21363306 G A SNP TUBA3FP ENST00000292748 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TUBA3FP HGNC ENSG00000161149 146 0 0 64 6 8.57143 APOL6 0 genome.wustl.edu 37 22 36055314 36055314 + Missense_Mutation SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 22 36055314 36055314 G A SNP APOL6 ENST00000409652 human ensembl 74_37 +1 known missense c.703 p.V235M 0.000 pfam_ApoL pfam_ApoL - no_errors APOL6 HGNC ENSG00000221963 151 0 0 61 12 16.4384 TTLL1 0 genome.wustl.edu 37 22 43447891 43447891 + Silent SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 22 43447891 43447891 C T SNP TTLL1 ENST00000266254 human ensembl 74_37 -1 known silent c.894 p.P298 0.816 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL1 HGNC ENSG00000100271 178 0 0 52 5 8.77193 CERK 0 genome.wustl.edu 37 22 47103812 47103812 + Missense_Mutation SNP C C A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 22 47103812 47103812 C A SNP CERK ENST00000216264 human ensembl 74_37 -1 known missense c.643 p.A215S 0.921 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom - no_errors CERK HGNC ENSG00000100422 164 0 0 50 4 7.40741 IGSF11 0 genome.wustl.edu 37 3 118644931 118644931 + RNA SNP A A C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 3 118644931 118644931 A C SNP IGSF11 ENST00000459718 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors IGSF11 HGNC ENSG00000144847 122 0 0 59 13 18.0556 PLCL2 0 genome.wustl.edu 37 3 17051550 17051550 + Missense_Mutation SNP G G T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 3 17051550 17051550 G T SNP PLCL2 ENST00000418129 human ensembl 74_37 +1 known missense c.334 p.V112F 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC ENSG00000154822 223 0 0 117 14 10.687 SNRK 0 genome.wustl.edu 37 3 43389767 43389767 + Missense_Mutation SNP G G T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 3 43389767 43389767 G T SNP SNRK ENST00000296088 human ensembl 74_37 +1 known missense c.2016 p.L672F 0.198 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SNRK HGNC ENSG00000163788 190 0 0 76 16 17.3913 SACM1L 0 genome.wustl.edu 37 3 45746628 45746628 + Missense_Mutation SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 3 45746628 45746628 C T SNP SACM1L ENST00000541314 human ensembl 74_37 +1 known missense c.77 p.S26L 0.985 NULL pfam_Syja_N,pfscan_Syja_N - no_errors SACM1L HGNC ENSG00000211456 102 0 0 31 16 34.0426 CELSR3 0 genome.wustl.edu 37 3 48699919 48699919 + Missense_Mutation SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 3 48699919 48699919 G A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.149 p.T50M 0.076 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 77 0 0 23 6 20.6897 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 276 0 0 64 22 25.5814 DOCK3 0 genome.wustl.edu 37 3 51112789 51112789 + Missense_Mutation SNP A A C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 3 51112789 51112789 A C SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.467 p.H156P 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 39 0 0 12 3 20 TENM3 0 genome.wustl.edu 37 4 183603102 183603102 + Missense_Mutation SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 4 183603102 183603102 C T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.1970 p.T657M 0.878 smart_EG-like_dom,pfscan_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 101 0 0 31 9 22.5 ZBTB49 0 genome.wustl.edu 37 4 4301776 4301776 + Missense_Mutation SNP G G T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 4 4301776 4301776 G T SNP ZBTB49 ENST00000337872 human ensembl 74_37 +1 known missense c.104 p.C35F 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB49 HGNC ENSG00000168826 229 0 0 88 33 27.2727 TECRL 0 genome.wustl.edu 37 4 65175598 65175598 + Silent SNP G G T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 4 65175598 65175598 G T SNP TECRL ENST00000381210 human ensembl 74_37 -1 known silent c.603 p.T201 0.999 NULL pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 140 0 0 84 16 16 SPP1 0 genome.wustl.edu 37 4 88902928 88902928 + Missense_Mutation SNP A A C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 4 88902928 88902928 A C SNP SPP1 ENST00000395080 human ensembl 74_37 +1 known missense c.518 p.K173T 0.000 pfam_Osteopontin,smart_Osteopontin pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin - no_errors SPP1 HGNC ENSG00000118785 108 0 0 52 10 16.129 ZRSR1 0 genome.wustl.edu 37 5 112227799 112227799 + Missense_Mutation SNP A A G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 5 112227799 112227799 A G SNP ZRSR1 ENST00000391338 human ensembl 74_37 +1 known missense c.463 p.S155G 0.991 NULL pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors ZRSR1 HGNC ENSG00000212643 163 0 0 69 6 8 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 5 137503737 137503737 C A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.673 p.G225C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 233 1 0.42735 55 13 19.1176 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 238 0 0 49 50 50.5051 PCDHGB1 0 genome.wustl.edu 37 5 140731511 140731511 + Missense_Mutation SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 5 140731511 140731511 G A SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known missense c.1684 p.A562T 0.080 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 134 0 0 40 17 29.8246 PCDHGB2 0 genome.wustl.edu 37 5 140741192 140741192 + Missense_Mutation SNP A A C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 5 140741192 140741192 A C SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known missense c.1490 p.K497T 0.262 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 113 0 0 49 12 19.6721 EBF1 0 genome.wustl.edu 37 5 158250238 158250238 + Missense_Mutation SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 5 158250238 158250238 G A SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known missense c.724 p.R242W 1.000 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 57 0 0 24 12 33.3333 CDHR2 0 genome.wustl.edu 37 5 176011889 176011889 + Silent SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 5 176011889 176011889 G A SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known silent c.2607 p.A869 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 47 0 0 28 3 9.67742 COL23A1 0 genome.wustl.edu 37 5 177987741 177987741 + Silent SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 5 177987741 177987741 G A SNP COL23A1 ENST00000390654 human ensembl 74_37 -1 known silent c.303 p.D101 0.368 NULL pfam_Collagen - no_errors COL23A1 HGNC ENSG00000050767 39 0 0 11 4 26.6667 STL 0 genome.wustl.edu 37 6 125233657 125233657 + RNA SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 6 125233657 125233657 G A SNP STL ENST00000439075 human ensembl 74_37 -1 known rna NULL NULL 0.525 - - - no_errors RP11-510H23.1 Clone_based_vega_gene ENSG00000236548 25 0 0 23 5 17.8571 SGK1 0 genome.wustl.edu 37 6 134492172 134492172 + Missense_Mutation SNP T T C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 6 134492172 134492172 T C SNP SGK1 ENST00000367858 human ensembl 74_37 -1 known missense c.1312 p.K438E 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors SGK1 HGNC ENSG00000118515 74 0 0 39 13 25 AHI1 0 genome.wustl.edu 37 6 135784313 135784313 + Missense_Mutation SNP T T C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 6 135784313 135784313 T C SNP AHI1 ENST00000265602 human ensembl 74_37 -1 known missense c.881 p.Q294R 0.919 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 86 0 0 48 4 7.69231 IGF2R 0 genome.wustl.edu 37 6 160482581 160482581 + Missense_Mutation SNP G G C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 6 160482581 160482581 G C SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.3309 p.R1103S 0.772 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 187 0 0 74 19 20.4301 PRL 0 genome.wustl.edu 37 6 22294767 22294767 + Silent SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 6 22294767 22294767 G A SNP PRL ENST00000306482 human ensembl 74_37 -1 known silent c.75 p.S25 0.000 pfam_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors PRL HGNC ENSG00000172179 39 0 0 15 11 42.3077 MUC21 0 genome.wustl.edu 37 6 30955037 30955037 + Missense_Mutation SNP A A T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 6 30955037 30955037 A T SNP MUC21 ENST00000376296 human ensembl 74_37 +1 known missense c.1085 p.N362I 0.000 NULL NULL - no_errors MUC21 HGNC ENSG00000204544 554 0 0 194 13 6.28019 COL12A1 0 genome.wustl.edu 37 6 75797464 75797464 + Splice_Site SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 6 75797464 75797464 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known splice_site c.9011-1 e64-1 1.000 - - - no_errors COL12A1 HGNC ENSG00000111799 102 0 0 30 7 18.9189 PGM3 0 genome.wustl.edu 37 6 83892687 83892687 + Missense_Mutation SNP C C A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 6 83892687 83892687 C A SNP PGM3 ENST00000513973 human ensembl 74_37 -1 known missense c.468 p.L156F 0.993 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM - no_errors PGM3 HGNC ENSG00000013375 89 0 0 39 13 25 NT5E 0 genome.wustl.edu 37 6 86199233 86199233 + Missense_Mutation SNP A A G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 6 86199233 86199233 A G SNP NT5E ENST00000257770 human ensembl 74_37 +1 known missense c.1126 p.T376A 0.721 pfam_5'-Nucleotdase_C,superfamily_5'-Nucleotdase_C pfam_5'-Nucleotdase_C,pfam_PEstase_dom,superfamily_5'-Nucleotdase_C,prints_5_nucleotidase/apyrase - no_errors NT5E HGNC ENSG00000135318 42 0 0 33 3 8.33333 NT5E 0 genome.wustl.edu 37 6 86199243 86199243 + Missense_Mutation SNP T T C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 6 86199243 86199243 T C SNP NT5E ENST00000257770 human ensembl 74_37 +1 known missense c.1136 p.M379T 0.001 pfam_5'-Nucleotdase_C,superfamily_5'-Nucleotdase_C pfam_5'-Nucleotdase_C,pfam_PEstase_dom,superfamily_5'-Nucleotdase_C,prints_5_nucleotidase/apyrase - no_errors NT5E HGNC ENSG00000135318 39 0 0 32 3 8.57143 GJA10 0 genome.wustl.edu 37 6 90605670 90605670 + Missense_Mutation SNP C C G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 6 90605670 90605670 C G SNP GJA10 ENST00000369352 human ensembl 74_37 +1 known missense c.1483 p.L495V 0.002 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA10 HGNC ENSG00000135355 210 0 0 63 24 27.5862 SRRT 0 genome.wustl.edu 37 7 100485890 100485890 + Missense_Mutation SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 7 100485890 100485890 G A SNP SRRT ENST00000388793 human ensembl 74_37 +1 known missense c.2438 p.R813H 0.991 pfam_Arsenite-R_2 pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 106 0 0 57 5 8.06452 PRKRIP1 0 genome.wustl.edu 37 7 102065546 102065546 + Missense_Mutation SNP C C A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 7 102065546 102065546 C A SNP PRKRIP1 ENST00000354783 human ensembl 74_37 +1 known missense c.364 p.H122N 1.000 NULL pfam_DUF1168 - no_errors PRKRIP1 HGNC ENSG00000128563 35 0 0 13 6 31.5789 LHFPL3 0 genome.wustl.edu 37 7 104377350 104377350 + Missense_Mutation SNP A A G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 7 104377350 104377350 A G SNP LHFPL3 ENST00000535008 human ensembl 74_37 +1 known missense c.674 p.E225G 1.000 NULL pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL3 HGNC ENSG00000187416 19 0 0 15 4 21.0526 SVOPL 0 genome.wustl.edu 37 7 138314822 138314822 + Missense_Mutation SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 7 138314822 138314822 G A SNP SVOPL ENST00000288513 human ensembl 74_37 -1 known missense c.379 p.R127W 0.993 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SVOPL HGNC ENSG00000157703 134 0 0 55 6 9.83607 FIGNL1 0 genome.wustl.edu 37 7 50514332 50514332 + Silent SNP T T C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 7 50514332 50514332 T C SNP FIGNL1 ENST00000356889 human ensembl 74_37 -1 known silent c.654 p.T218 0.009 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGNL1 HGNC ENSG00000132436 176 1 0.564972 109 17 13.4921 WIPI2 0 genome.wustl.edu 37 7 5266933 5266933 + Missense_Mutation SNP G G C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 7 5266933 5266933 G C SNP WIPI2 ENST00000288828 human ensembl 74_37 +1 known missense c.971 p.R324P 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI2 HGNC ENSG00000157954 100 0 0 53 24 31.1688 ZNF733P 0 genome.wustl.edu 37 7 62751947 62751947 + RNA SNP T T G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 7 62751947 62751947 T G SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF733P HGNC ENSG00000185037 120 0 0 71 10 12.3457 CLIP2 0 genome.wustl.edu 37 7 73771749 73771749 + Missense_Mutation SNP C C A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 7 73771749 73771749 C A SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known missense c.1157 p.T386K 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 74 0 0 10 19 65.5172 PCLO 0 genome.wustl.edu 37 7 82545485 82545485 + Silent SNP T T C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 7 82545485 82545485 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.11817 p.Q3939 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 596 0 0 326 84 20.4878 RIMS2 0 genome.wustl.edu 37 8 104898096 104898096 + Silent SNP T T C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 8 104898096 104898096 T C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1269 p.S423 0.998 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 110 0 0 62 6 8.82353 CYHR1 0 genome.wustl.edu 37 8 145689777 145689777 + Silent SNP G G C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 8 145689777 145689777 G C SNP CYHR1 ENST00000306145 human ensembl 74_37 -1 known silent c.312 p.G104 0.858 NULL NULL - no_errors CYHR1 HGNC ENSG00000187954 189 1 0.526316 90 33 26.8293 CHRNB3 0 genome.wustl.edu 37 8 42587391 42587391 + Missense_Mutation SNP C C G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 8 42587391 42587391 C G SNP CHRNB3 ENST00000289957 human ensembl 74_37 +1 known missense c.941 p.T314S 0.999 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC ENSG00000147432 254 0 0 132 59 30.8901 KCNB2 0 genome.wustl.edu 37 8 73480086 73480086 + Silent SNP C C A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 8 73480086 73480086 C A SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known silent c.117 p.I39 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 144 0 0 120 11 8.39695 CTNNAL1 0 genome.wustl.edu 37 9 111755008 111755008 + Silent SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 9 111755008 111755008 C T SNP CTNNAL1 ENST00000325551 human ensembl 74_37 -1 known silent c.423 p.V141 0.961 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin - no_errors CTNNAL1 HGNC ENSG00000119326 52 0 0 40 5 11.1111 SVEP1 0 genome.wustl.edu 37 9 113238531 113238531 + Missense_Mutation SNP T T G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 9 113238531 113238531 T G SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.2552 p.K851T 1.000 NULL pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 134 0 0 53 10 15.873 ASS1 0 genome.wustl.edu 37 9 133352241 133352241 + RNA SNP T T A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 9 133352241 133352241 T A SNP ASS1 ENST00000470849 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ASS1 HGNC ENSG00000130707 244 0 0 61 7 10.2941 SARDH 0 genome.wustl.edu 37 9 136573412 136573412 + Silent SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 9 136573412 136573412 G A SNP SARDH ENST00000371872 human ensembl 74_37 -1 known silent c.1467 p.H489 0.992 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 146 0 0 34 3 8.10811 OR2S2 0 genome.wustl.edu 37 9 35957577 35957577 + Silent SNP A A G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 9 35957577 35957577 A G SNP OR2S2 ENST00000341959 human ensembl 74_37 -1 known silent c.519 p.N173 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2S2 HGNC ENSG00000122718 157 0 0 71 21 22.8261 CBWD3 0 genome.wustl.edu 37 9 70863777 70863777 + Missense_Mutation SNP G G T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 9 70863777 70863777 G T SNP CBWD3 ENST00000360171 human ensembl 74_37 +1 known missense c.394 p.D132Y 1.000 pfam_CobW/HypB/UreG_dom,superfamily_P-loop_NTPase pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C - no_errors CBWD3 HGNC ENSG00000196873 21 0 0 10 3 23.0769 SYK 0 genome.wustl.edu 37 9 93640013 93640013 + Missense_Mutation SNP A A T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 9 93640013 93640013 A T SNP SYK ENST00000375746 human ensembl 74_37 +1 known missense c.1342 p.M448L 0.999 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SYK HGNC ENSG00000165025 121 0 0 47 10 17.5439 PTCH1 0 genome.wustl.edu 37 9 98220421 98220421 + Silent SNP G G A TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 9 98220421 98220421 G A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known silent c.3042 p.P1014 0.995 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 140 0 0 54 6 10 ARMCX1 0 genome.wustl.edu 37 X 100809059 100809059 + Missense_Mutation SNP T T G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b X 100809059 100809059 T G SNP ARMCX1 ENST00000372829 human ensembl 74_37 +1 known missense c.1146 p.D382E 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMCX1 HGNC ENSG00000126947 40 0 0 27 10 27.027 ARMCX3 0 genome.wustl.edu 37 X 100880290 100880290 + Silent SNP A A G TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b X 100880290 100880290 A G SNP ARMCX3 ENST00000341189 human ensembl 74_37 +1 known silent c.321 p.K107 1.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX3 HGNC ENSG00000102401 76 0 0 51 12 19.0476 PNMA3 0 genome.wustl.edu 37 X 152226073 152226073 + Missense_Mutation SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b X 152226073 152226073 C T SNP PNMA3 ENST00000370264 human ensembl 74_37 +1 known missense c.661 p.R221W 0.001 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PNMA3 HGNC ENSG00000183837 158 0 0 34 33 49.2537 H2AFB1 0 genome.wustl.edu 37 X 154113540 154113540 + Silent SNP C C T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b X 154113540 154113540 C T SNP H2AFB1 ENST00000354461 human ensembl 74_37 +1 known silent c.216 p.G72 0.997 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFB1 HGNC ENSG00000198082 97 0 0 21 11 34.375 KIAA2022 0 genome.wustl.edu 37 X 73961323 73961323 + Silent SNP A A C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b X 73961323 73961323 A C SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known silent c.3069 p.T1023 0.911 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 64 0 0 30 21 41.1765 UPRT 0 genome.wustl.edu 37 X 74494178 74494178 + Missense_Mutation SNP G G T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b X 74494178 74494178 G T SNP UPRT ENST00000373383 human ensembl 74_37 +1 known missense c.89 p.R30L 0.000 NULL pfam_PRibTrfase_dom - no_errors UPRT HGNC ENSG00000094841 28 0 0 10 4 28.5714 CLEC9A 0 genome.wustl.edu 37 12 10205420 10205421 + RNA INS - - T TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 12 10205420 10205421 - T INS CLEC9A ENST00000544751 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CLEC9A HGNC ENSG00000197992 36 0 0 14 4 22.2222 PTHLH 0 genome.wustl.edu 37 12 28114898 28114898 + Frame_Shift_Del DEL T T - TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 12 28114898 28114898 T - DEL PTHLH ENST00000354417 human ensembl 74_37 -1 known frame_shift_del c.557 p.K186fs 0.135 NULL pfam_PTH/PTH-rel,smart_PTH/PTH-rel - no_errors PTHLH HGNC ENSG00000087494 11 0 0 4 3 42.8571 ANKS3 0 genome.wustl.edu 37 16 4752108 4752110 + In_Frame_Del DEL CTG CTG - TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 16 4752108 4752110 CTG - DEL ANKS3 ENST00000304283 human ensembl 74_37 -1 known in_frame_del c.1004_1002 p.S335in_frame_del 0.994:0.998:1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS3 HGNC ENSG00000168096 63 0 0 17 2 10.5263 SLC4A3 0 genome.wustl.edu 37 2 220494110 220494111 + Frame_Shift_Ins INS - - C TCGA-CD-8530-01A-11D-2340-08 TCGA-CD-8530-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8c14adb-46f6-4c64-b47d-49e42e87fb4f 112c8f9d-0430-48be-90ed-8f427b4ec20b 2 220494110 220494111 - C INS SLC4A3 ENST00000273063 human ensembl 74_37 +1 known frame_shift_ins c.462_463 p.H156fs 0.015:0.049 prints_Anion_exchange_3 pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 45 0 0 13 2 13.3333