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 ACACB 0 genome.wustl.edu 37 12 109670566 109670566 + Missense_Mutation SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 12 109670566 109670566 G A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.4094 p.R1365H 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 tier1 - - 41 0 0.00 53 11 16.92 ADAMTS20 0 genome.wustl.edu 37 12 43833503 43833503 + Missense_Mutation SNP T T C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 12 43833503 43833503 T C SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.2515 p.I839V 1.000 pfam_ADAM_spacer1 pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 tier1 - - 28 0 0.00 26 17 39.53 ANKDD1A 0 genome.wustl.edu 37 15 65218355 65218355 + Missense_Mutation SNP G G C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 15 65218355 65218355 G C SNP ANKDD1A ENST00000380230 human ensembl 74_37 +1 known missense c.457 p.D153H 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,prints_Ankyrin_rpt - no_errors ANKDD1A HGNC ENSG00000166839 tier1 - - 69 0 0.00 52 19 26.76 ARHGEF1 0 genome.wustl.edu 37 19 42411345 42411345 + Missense_Mutation SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 19 42411345 42411345 G T SNP ARHGEF1 ENST00000378152 human ensembl 74_37 +1 putative missense c.2627 p.G876V 0.812 NULL pfam_RGS-like_dom,pfam_DH-domain,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 tier1 - - 91 0 0.00 39 33 45.83 ARL6IP4 0 genome.wustl.edu 37 12 123466293 123466295 + In_Frame_Del DEL GAA GAA - TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 12 123466293 123466295 GAA - DEL ARL6IP4 ENST00000315580 human ensembl 74_37 +1 known in_frame_del c.705_707 p.K239in_frame_del 0.997:1.000:0.999 pfam_Nucl_RNA-splicing_assoc_SR-25 pfam_Nucl_RNA-splicing_assoc_SR-25 - no_errors ARL6IP4 HGNC ENSG00000182196 tier1 21 0 0.00 21 3 12.50 ASAP3 0 genome.wustl.edu 37 1 23769086 23769086 + Missense_Mutation SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 1 23769086 23769086 G A SNP ASAP3 ENST00000336689 human ensembl 74_37 -1 known missense c.493 p.R165C 0.999 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 39 0 0.00 49 3 5.77 ATP10D 0 genome.wustl.edu 37 4 47560156 47560156 + Missense_Mutation SNP T T G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 4 47560156 47560156 T G SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known missense c.2300 p.L767R 0.996 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 ATP10D HGNC ENSG00000145246 tier1 - - 37 0 0.00 37 29 43.94 ATRNL1 0 genome.wustl.edu 37 10 116931078 116931078 + RNA SNP T T C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 10 116931078 116931078 T C SNP ATRNL1 ENST00000485327 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ATRNL1 HGNC ENSG00000107518 tier1 - - 27 0 0.00 38 7 15.56 BHLHE40 0 genome.wustl.edu 37 3 5025110 5025110 + Silent SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 3 5025110 5025110 C T SNP BHLHE40 ENST00000256495 human ensembl 74_37 +1 known silent c.972 p.P324 1.000 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors BHLHE40 HGNC ENSG00000134107 57 0 0.00 53 3 5.36 BPTF 0 genome.wustl.edu 37 17 65955782 65955783 + In_Frame_Ins INS - - GCC TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 17 65955782 65955783 - GCC INS BPTF ENST00000321892 human ensembl 74_37 +1 known in_frame_ins c.8430_8431 p.2810in_frame_insA 0.069:0.577 superfamily_Bromodomain pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 tier1 30 0 0.00 37 5 11.90 CAMKK1 0 genome.wustl.edu 37 17 3786462 3786462 + Silent SNP A A G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 17 3786462 3786462 A G SNP CAMKK1 ENST00000381771 human ensembl 74_37 -1 known silent c.522 p.P174 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMKK1 HGNC ENSG00000004660 tier1 - - 39 0 0.00 45 4 8.16 CC2D1A 0 genome.wustl.edu 37 19 14034533 14034533 + Missense_Mutation SNP A A C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 19 14034533 14034533 A C SNP CC2D1A ENST00000318003 human ensembl 74_37 +1 known missense c.1849 p.K617Q 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom - no_errors CC2D1A HGNC ENSG00000132024 tier1 - - 40 0 0.00 27 31 53.45 CCDC18 0 genome.wustl.edu 37 1 93722013 93722013 + Missense_Mutation SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 1 93722013 93722013 G A SNP CCDC18 ENST00000557479 human ensembl 74_37 +1 known missense c.3818 p.R1273H 0.962 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 tier1 - - 50 0 0.00 51 4 7.27 CDK5RAP2 0 genome.wustl.edu 37 9 123199725 123199725 + Missense_Mutation SNP A A G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 9 123199725 123199725 A G SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.3803 p.V1268A 1.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 tier1 - - 81 0 0.00 133 21 13.64 CHADL 0 genome.wustl.edu 37 22 41631181 41631181 + Missense_Mutation SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 22 41631181 41631181 G T SNP CHADL ENST00000216241 human ensembl 74_37 -1 known missense c.2230 p.P744T 0.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CHADL HGNC ENSG00000100399 tier1 - - 46 0 0.00 68 7 9.33 CNDP2 0 genome.wustl.edu 37 18 72183588 72183588 + Silent SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 18 72183588 72183588 G A SNP CNDP2 ENST00000324262 human ensembl 74_37 +1 known silent c.1029 p.R343 0.017 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP2 HGNC ENSG00000133313 tier1 - - 58 0 0.00 36 4 10.00 COL20A1 0 genome.wustl.edu 37 20 61947988 61947988 + Missense_Mutation SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 20 61947988 61947988 G T SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known missense c.2608 p.G870C 0.015 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G 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 tier1 - - 85 0 0.00 52 26 33.33 CTAGE9 0 genome.wustl.edu 37 6 132031717 132031717 + Silent SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 6 132031717 132031717 G T SNP CTAGE9 ENST00000314099 human ensembl 74_37 -1 known silent c.441 p.L147 0.007 NULL NULL - no_errors CTAGE9 HGNC ENSG00000236761 tier1 - - 127 0 0.00 85 29 25.44 CTGF 0 genome.wustl.edu 37 6 132271549 132271549 + Missense_Mutation SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 6 132271549 132271549 G T SNP CTGF ENST00000367976 human ensembl 74_37 -1 known missense c.424 p.R142S 0.945 pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors CTGF HGNC ENSG00000118523 tier1 - - 40 0 0.00 13 17 56.67 CYP11A1 0 genome.wustl.edu 37 15 74653949 74653949 + RNA SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 15 74653949 74653949 G A SNP CYP11A1 ENST00000467407 human ensembl 74_37 -1 known rna NULL NULL 0.938 - - - no_errors CYP11A1 HGNC ENSG00000140459 tier1 - - 40 0 0.00 63 4 5.97 DAZAP2 0 genome.wustl.edu 37 12 51634874 51634874 + Missense_Mutation SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 12 51634874 51634874 G A SNP DAZAP2 ENST00000412716 human ensembl 74_37 +1 known missense c.352 p.A118T 1.000 pfam_DAZ_assoc-2 pfam_DAZ_assoc-2 - no_errors DAZAP2 HGNC ENSG00000183283 tier1 - - 76 0 0.00 94 17 15.32 DCAF4L1 0 genome.wustl.edu 37 4 41984513 41984513 + Missense_Mutation SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 4 41984513 41984513 C T SNP DCAF4L1 ENST00000333141 human ensembl 74_37 +1 known missense c.704 p.T235M 0.151 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC ENSG00000182308 35 0 0.00 30 2 6.25 DDHD1 0 genome.wustl.edu 37 14 53570521 53570521 + Nonsense_Mutation SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 14 53570521 53570521 G A SNP DDHD1 ENST00000323669 human ensembl 74_37 -1 known nonsense c.892 p.Q298* 1.000 NULL pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC ENSG00000100523 72 0 0.00 102 6 5.56 DNAH6 0 genome.wustl.edu 37 2 84775508 84775508 + Missense_Mutation SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 2 84775508 84775508 C T SNP DNAH6 ENST00000237449 human ensembl 74_37 +1 known missense c.1283 p.A428V 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 tier1 - - 37 0 0.00 48 4 7.69 DOT1L 0 genome.wustl.edu 37 19 2213592 2213592 + Missense_Mutation SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 19 2213592 2213592 G A SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known missense c.1612 p.A538T 1.000 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 tier1 - - 47 0 0.00 26 32 55.17 DRD2 0 genome.wustl.edu 37 11 113295289 113295289 + Missense_Mutation SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 11 113295289 113295289 C T SNP DRD2 ENST00000355319 human ensembl 74_37 -1 known missense c.85 p.A29T 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD2 HGNC ENSG00000149295 tier1 - - 57 0 0.00 50 4 7.41 DSCAM 0 genome.wustl.edu 37 21 41414321 41414321 + Missense_Mutation SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 21 41414321 41414321 G A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.5663 p.A1888V 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 - - 37 0 0.00 13 24 64.86 EDDM3B 0 genome.wustl.edu 37 14 21238744 21238744 + Silent SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 14 21238744 21238744 C T SNP EDDM3B ENST00000326783 human ensembl 74_37 +1 known silent c.435 p.I145 0.001 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain - no_errors EDDM3B HGNC ENSG00000181552 25 0 0.00 53 5 8.62 ENSG00000201885 0 genome.wustl.edu 37 7 76642996 76642996 + RNA SNP T T C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 7 76642996 76642996 T C SNP ENSG00000201885 ENST00000365015 human ensembl 74_37 +1 novel rna NULL NULL 0.004 - - - no_errors Y_RNA RFAM ENSG00000201885 tier1 - - 22 0 0.00 24 6 20.00 ENSG00000201885 0 genome.wustl.edu 37 7 76642997 76642997 + RNA SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 7 76642997 76642997 G A SNP ENSG00000201885 ENST00000365015 human ensembl 74_37 +1 novel rna NULL NULL 0.003 - - - no_errors Y_RNA RFAM ENSG00000201885 tier1 - - 23 0 0.00 23 6 20.00 ENSG00000228302 0 genome.wustl.edu 37 10 12288997 12288997 + RNA SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 10 12288997 12288997 C T SNP ENSG00000228302 ENST00000421657 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-186N15.3 Clone_based_vega_gene ENSG00000228302 tier1 rs111957661 - 25 0 0.00 24 4 14.29 ENSG00000228302 0 genome.wustl.edu 37 10 12289002 12289002 + RNA SNP T T G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 10 12289002 12289002 T G SNP ENSG00000228302 ENST00000421657 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-186N15.3 Clone_based_vega_gene ENSG00000228302 tier1 rs113024795 - 28 0 0.00 24 4 14.29 ENSG00000232274 0 genome.wustl.edu 37 1 143207775 143207775 + RNA SNP C C G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 1 143207775 143207775 C G SNP ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.613 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 - - 141 0 0.00 155 11 6.63 ENSG00000254840 0 genome.wustl.edu 37 11 50274618 50274618 + RNA SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 11 50274618 50274618 G T SNP ENSG00000254840 ENST00000528459 human ensembl 74_37 +1 known rna NULL NULL 0.990 - - - no_errors RP11-574M7.1 Clone_based_vega_gene ENSG00000254840 tier1 - - 44 0 0.00 19 5 20.83 EXO1 0 genome.wustl.edu 37 1 242015637 242015637 + Missense_Mutation SNP C C A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 1 242015637 242015637 C A SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known missense c.205 p.H69N 1.000 pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 tier1 - - 32 0 0.00 54 19 26.03 F5 0 genome.wustl.edu 37 1 169513654 169513654 + Missense_Mutation SNP T T G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 1 169513654 169513654 T G SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.1855 p.N619H 1.000 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 tier1 - - 43 0 0.00 44 9 16.67 FAM230B 0 genome.wustl.edu 37 22 21538275 21538275 + RNA SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 22 21538275 21538275 C T SNP FAM230B ENST00000451257 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM230B HGNC ENSG00000215498 39 0 0.00 37 4 9.76 FBXL4 0 genome.wustl.edu 37 6 99322298 99322298 + Silent SNP C C G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 6 99322298 99322298 C G SNP FBXL4 ENST00000229971 human ensembl 74_37 -1 known silent c.1722 p.P574 0.002 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL4 HGNC ENSG00000112234 tier1 - - 12 0 0.00 16 7 30.43 FBXO34 0 genome.wustl.edu 37 14 55819192 55819192 + Missense_Mutation SNP A A T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 14 55819192 55819192 A T SNP FBXO34 ENST00000313833 human ensembl 74_37 +1 known missense c.2084 p.N695I 0.944 NULL superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO34 HGNC ENSG00000178974 tier1 - - 45 0 0.00 44 21 32.31 FLG 0 genome.wustl.edu 37 1 152276849 152276849 + Missense_Mutation SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 1 152276849 152276849 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.10513 p.H3505Y 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 104 0 0.00 93 58 38.41 FNDC1 0 genome.wustl.edu 37 6 159653096 159653096 + Frame_Shift_Del DEL G G - TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 6 159653096 159653096 G - DEL FNDC1 ENST00000297267 human ensembl 74_37 +1 known frame_shift_del c.1552 p.A519fs 0.005 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 tier1 56 0 0.00 22 31 58.49 FOXF1 0 genome.wustl.edu 37 16 86544572 86544572 + Missense_Mutation SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 16 86544572 86544572 G A SNP FOXF1 ENST00000262426 human ensembl 74_37 +1 known missense c.397 p.E133K 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF1 HGNC ENSG00000103241 tier1 - - 85 0 0.00 21 60 74.07 FSCB 0 genome.wustl.edu 37 14 44974261 44974261 + Missense_Mutation SNP C C A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 14 44974261 44974261 C A SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.1930 p.A644S 0.000 NULL NULL - no_errors FSCB HGNC ENSG00000189139 26 0 0.00 60 4 6.25 GOLGA6L2 0 genome.wustl.edu 37 15 23685343 23685343 + Missense_Mutation SNP T T C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 15 23685343 23685343 T C SNP GOLGA6L2 ENST00000567107 human ensembl 74_37 -1 putative missense c.2279 p.E760G 0.000 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 tier1 rs74203443 - 46 0 0.00 37 9 19.57 GOLGA8DP 0 genome.wustl.edu 37 15 22709152 22709152 + RNA SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 15 22709152 22709152 G T SNP GOLGA8DP ENST00000314246 human ensembl 74_37 -1 known rna NULL NULL 0.154 - - - no_errors GOLGA8DP HGNC ENSG00000185182 141 0 0.00 146 8 5.06 GPR63 0 genome.wustl.edu 37 6 97247193 97247193 + Missense_Mutation SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 6 97247193 97247193 G T SNP GPR63 ENST00000229955 human ensembl 74_37 -1 known missense c.415 p.L139M 1.000 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 - no_errors GPR63 HGNC ENSG00000112218 44 0 0.00 59 4 6.35 GPS2 0 genome.wustl.edu 37 17 7216753 7216753 + Missense_Mutation SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 17 7216753 7216753 G T SNP GPS2 ENST00000380728 human ensembl 74_37 -1 known missense c.670 p.Q224K 0.999 NULL NULL - no_errors GPS2 HGNC ENSG00000132522 47 0 0.00 54 3 5.26 GRM6 0 genome.wustl.edu 37 5 178413399 178413399 + Nonsense_Mutation SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 5 178413399 178413399 G T SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known nonsense c.1856 p.S619* 0.997 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 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_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 39 0 0.00 34 2 5.56 GTF2IRD2P1 0 genome.wustl.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 7 72664015 72664016 - G INS GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.912:0.964 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 tier1 11 0 0.00 18 4 18.18 HIF1A 0 genome.wustl.edu 37 14 62188256 62188256 + Missense_Mutation SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 14 62188256 62188256 G A SNP HIF1A ENST00000539097 human ensembl 74_37 +1 known missense c.328 p.A110T 0.520 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors HIF1A HGNC ENSG00000100644 tier1 - - 48 0 0.00 96 7 6.80 HM13 0 genome.wustl.edu 37 20 30142485 30142485 + RNA DEL A A - TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 20 30142485 30142485 A - DEL HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.172 - - - no_errors HM13 HGNC ENSG00000101294 tier1 35 0 0.00 25 5 16.67 HMGB1P5 0 genome.wustl.edu 37 3 22424366 22424366 + RNA SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 3 22424366 22424366 G T SNP HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 29 0 0.00 28 3 9.68 IL9R 0 genome.wustl.edu 37 X 155239804 155239804 + Missense_Mutation SNP C C G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 X 155239804 155239804 C G SNP IL9R ENST00000244174 human ensembl 74_37 +1 known missense c.1296 p.S432R 0.005 NULL superfamily_Fibronectin_type3 - no_errors IL9R HGNC ENSG00000124334 tier1 - - 100 0 0.00 74 5 6.33 INTS6 0 genome.wustl.edu 37 13 51948408 51948408 + Silent SNP T T C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 13 51948408 51948408 T C SNP INTS6 ENST00000311234 human ensembl 74_37 -1 known silent c.2040 p.K680 1.000 NULL pfam_VWF_A,pfscan_VWF_A - no_errors INTS6 HGNC ENSG00000102786 52 0 0.00 34 3 7.69 IQSEC1 0 genome.wustl.edu 37 3 12966156 12966156 + Missense_Mutation SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 3 12966156 12966156 C T SNP IQSEC1 ENST00000273221 human ensembl 74_37 -1 known missense c.1697 p.R566H 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC1 HGNC ENSG00000144711 tier1 - - 75 0 0.00 21 52 71.23 ITGB4 0 genome.wustl.edu 37 17 73723864 73723864 + Missense_Mutation SNP T T C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 17 73723864 73723864 T C SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.397 p.Y133H 1.000 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 tier1 - - 75 0 0.00 61 5 7.58 KCTD19 0 genome.wustl.edu 37 16 67324844 67324844 + Missense_Mutation SNP T T C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 16 67324844 67324844 T C SNP KCTD19 ENST00000304372 human ensembl 74_37 -1 known missense c.2611 p.I871V 0.997 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 tier1 - - 27 0 0.00 41 7 14.29 KIAA1239 0 genome.wustl.edu 37 4 37447948 37447948 + Silent SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 4 37447948 37447948 C T SNP KIAA1239 ENST00000309447 human ensembl 74_37 +1 known silent c.4338 p.S1446 0.210 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 tier1 - - 41 0 0.00 34 6 15.00 KIAA1731 0 genome.wustl.edu 37 11 93463064 93463064 + Silent SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 11 93463064 93463064 G A SNP KIAA1731 ENST00000411936 human ensembl 74_37 +1 known silent c.7599 p.V2533 0.000 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 tier1 - - 50 0 0.00 68 19 21.84 KMT2C 0 genome.wustl.edu 37 7 151947037 151947037 + Silent SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 7 151947037 151947037 C T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known silent c.1737 p.A579 0.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 66 0 0.00 59 21 26.25 KMT2D 0 genome.wustl.edu 37 12 49435700 49435700 + Silent SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 12 49435700 49435700 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known silent c.6183 p.L2061 1.000 superfamily_HMG_box_dom,smart_HMG_box_dom pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 56 0 0.00 28 23 44.23 LHFPL5 0 genome.wustl.edu 37 6 35773672 35773672 + Silent SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 6 35773672 35773672 C T SNP LHFPL5 ENST00000360215 human ensembl 74_37 +1 known silent c.225 p.S75 0.005 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL5 HGNC ENSG00000197753 tier1 - - 39 0 0.00 19 6 24.00 LINC00152 0 genome.wustl.edu 37 2 87755162 87755162 + RNA SNP T T C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 2 87755162 87755162 T C SNP LINC00152 ENST00000331944 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00152 HGNC ENSG00000222041 44 0 0.00 25 3 10.71 LINC00969 0 genome.wustl.edu 37 3 195400728 195400728 + RNA SNP A A G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 3 195400728 195400728 A G SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors LINC00969 HGNC ENSG00000242086 98 0 0.00 219 22 9.13 LOC100294362 0 genome.wustl.edu 37 17 78354811 78354811 + RNA SNP A A G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 17 78354811 78354811 A G SNP LOC100294362 ENST00000573394 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2047H16.4 Clone_based_vega_gene ENSG00000263069 tier1 - - 72 0 0.00 22 60 73.17 LOC101927188 0 genome.wustl.edu 37 18 6956262 6956263 + RNA INS - - T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 18 6956262 6956263 - T INS LOC101927188 ENST00000584722 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.001 - - - no_errors RP11-781P6.1 Clone_based_vega_gene ENSG00000265069 tier1 17 0 0.00 20 5 20.00 LOC101927267 0 genome.wustl.edu 37 12 49690649 49690649 + RNA SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 12 49690649 49690649 C T SNP LOC101927267 ENST00000553259 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-161H23.9 Clone_based_vega_gene ENSG00000258334 tier1 - - 42 0 0.00 21 20 48.78 LOC101929469 0 genome.wustl.edu 37 12 2964422 2964422 + Missense_Mutation SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 12 2964422 2964422 C T SNP LOC101929469 ENST00000382678 human ensembl 74_37 -1 known missense c.284 p.G95D 0.000 NULL NULL - no_errors AC005841.1 Clone_based_ensembl_gene ENSG00000206044 tier1 - - 88 0 0.00 83 30 26.55 LOC654342 0 genome.wustl.edu 37 2 91825016 91825016 + RNA SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 2 91825016 91825016 G A SNP LOC654342 ENST00000608018 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC027612.6 Clone_based_vega_gene ENSG00000143429 tier1 - - 78 0 0.00 94 15 13.76 MAGI2 0 genome.wustl.edu 37 7 77762345 77762345 + Missense_Mutation SNP C C G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 7 77762345 77762345 C G SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.3064 p.E1022Q 1.000 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 tier1 - - 45 0 0.00 36 25 40.98 MAN1A2 0 genome.wustl.edu 37 1 117963270 117963270 + Missense_Mutation SNP A A G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 1 117963270 117963270 A G SNP MAN1A2 ENST00000356554 human ensembl 74_37 +1 known missense c.854 p.E285G 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A2 HGNC ENSG00000198162 tier1 - - 76 0 0.00 58 4 6.45 MAPK3 0 genome.wustl.edu 37 16 30129434 30129434 + Silent SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 16 30129434 30129434 G A SNP MAPK3 ENST00000263025 human ensembl 74_37 -1 known silent c.594 p.T198 0.038 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK3 HGNC ENSG00000102882 tier1 - - 34 0 0.00 38 13 25.49 MARCH2 0 genome.wustl.edu 37 19 8503364 8503364 + Missense_Mutation SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 19 8503364 8503364 G T SNP MARCH2 ENST00000215555 human ensembl 74_37 +1 known missense c.675 p.E225D 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH2 HGNC ENSG00000099785 tier1 - - 79 0 0.00 111 6 5.13 MBL2 0 genome.wustl.edu 37 10 54531301 54531301 + Missense_Mutation SNP C C A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 10 54531301 54531301 C A SNP MBL2 ENST00000373968 human ensembl 74_37 -1 known missense c.95 p.C32F 0.908 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors MBL2 HGNC ENSG00000165471 tier1 rs199957742 - 34 0 0.00 30 17 36.17 MDM1 0 genome.wustl.edu 37 12 68720467 68720467 + Silent SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 12 68720467 68720467 G T SNP MDM1 ENST00000303145 human ensembl 74_37 -1 known silent c.468 p.T156 0.003 NULL NULL - no_errors MDM1 HGNC ENSG00000111554 tier1 - - 38 0 0.00 35 17 32.69 MED1 0 genome.wustl.edu 37 17 37566857 37566857 + Silent SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 17 37566857 37566857 G A SNP MED1 ENST00000300651 human ensembl 74_37 -1 known silent c.1617 p.N539 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 tier1 - - 28 0 0.00 23 22 48.89 MGAM 0 genome.wustl.edu 37 7 141705417 141705417 + Silent SNP T T C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 7 141705417 141705417 T C SNP MGAM ENST00000549489 human ensembl 74_37 +1 known silent c.87 p.V29 0.002 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 - - 47 0 0.00 40 5 10.87 MUC16 0 genome.wustl.edu 37 19 9085944 9085944 + Silent SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 19 9085944 9085944 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.5871 p.I1957 0.081 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 44 0 0.00 62 4 6.06 MYCT1 0 genome.wustl.edu 37 6 153019103 153019103 + Missense_Mutation SNP T T G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 6 153019103 153019103 T G SNP MYCT1 ENST00000367245 human ensembl 74_37 +1 known missense c.66 p.D22E 0.956 NULL NULL - no_errors MYCT1 HGNC ENSG00000120279 38 0 0.00 44 4 8.00 MYH13 0 genome.wustl.edu 37 17 10267795 10267795 + Missense_Mutation SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 17 10267795 10267795 C T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.53 p.R18Q 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 tier1 - - 41 0 0.00 16 34 68.00 MYLK 0 genome.wustl.edu 37 3 123356985 123356985 + Missense_Mutation SNP C C A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 3 123356985 123356985 C A SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.4894 p.V1632L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 MYLK HGNC ENSG00000065534 tier1 - - 72 0 0.00 37 28 43.08 NBAS 0 genome.wustl.edu 37 2 15608590 15608590 + Missense_Mutation SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 2 15608590 15608590 G A SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.1793 p.A598V 1.000 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 tier1 - - 60 0 0.00 70 4 5.33 NBAS 0 genome.wustl.edu 37 2 15307195 15307195 + Missense_Mutation SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 2 15307195 15307195 G T SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.7093 p.R2365S 0.000 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 19 0 0.00 32 4 11.11 NEB 0 genome.wustl.edu 37 2 152435902 152435902 + Missense_Mutation SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 2 152435902 152435902 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.16654 p.D5552N 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 84 0 0.00 84 19 18.27 NFE2L2 0 genome.wustl.edu 37 2 178098810 178098810 + Missense_Mutation SNP C C G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 2 178098810 178098810 C G SNP NFE2L2 ENST00000397062 human ensembl 74_37 -1 known missense c.235 p.E79Q 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 tier1 - - 66 0 0.00 55 57 50.89 NLRP14 0 genome.wustl.edu 37 11 7060994 7060994 + Silent SNP A A G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 11 7060994 7060994 A G SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known silent c.339 p.Q113 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC ENSG00000158077 tier1 - - 47 0 0.00 21 18 46.15 NNMT 0 genome.wustl.edu 37 11 114168879 114168879 + Missense_Mutation SNP A A G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 11 114168879 114168879 A G SNP NNMT ENST00000299964 human ensembl 74_37 +1 known missense c.361 p.R121G 1.000 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors NNMT HGNC ENSG00000166741 65 0 0.00 69 4 5.48 NOC3L 0 genome.wustl.edu 37 10 96117718 96117718 + RNA SNP T T C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 10 96117718 96117718 T C SNP NOC3L ENST00000463649 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NOC3L HGNC ENSG00000173145 tier1 - - 30 0 0.00 20 17 45.95 OPN4 0 genome.wustl.edu 37 10 88415912 88415912 + Missense_Mutation SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 10 88415912 88415912 G A SNP OPN4 ENST00000372071 human ensembl 74_37 +1 known missense c.145 p.A49T 0.779 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN4 HGNC ENSG00000122375 tier1 - - 77 0 0.00 53 37 41.11 OR10G2 0 genome.wustl.edu 37 14 22102245 22102245 + Missense_Mutation SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 14 22102245 22102245 C T SNP OR10G2 ENST00000542433 human ensembl 74_37 -1 known missense c.754 p.V252M 0.880 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G2 HGNC ENSG00000255582 tier1 - - 54 0 0.00 104 7 6.31 OR8I2 0 genome.wustl.edu 37 11 55861518 55861518 + Missense_Mutation SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 11 55861518 55861518 G T SNP OR8I2 ENST00000302124 human ensembl 74_37 +1 known missense c.735 p.M245I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8I2 HGNC ENSG00000172154 36 0 0.00 52 3 5.45 OTUD7A 0 genome.wustl.edu 37 15 31822940 31822940 + Missense_Mutation SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 15 31822940 31822940 C T SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known missense c.622 p.G208R 1.000 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 tier1 - - 82 0 0.00 67 4 5.63 PANX1 0 genome.wustl.edu 37 11 93911580 93911580 + Frame_Shift_Del DEL C C - TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 11 93911580 93911580 C - DEL PANX1 ENST00000227638 human ensembl 74_37 +1 known frame_shift_del c.367 p.P124fs 1.000 pfam_Innexin,pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX1 HGNC ENSG00000110218 tier1 26 0 0.00 33 2 5.71 PCDH10 0 genome.wustl.edu 37 4 134072084 134072084 + Silent SNP T T C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 4 134072084 134072084 T C SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.789 p.S263 0.686 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 PCDH10 HGNC ENSG00000138650 tier1 - - 32 0 0.00 31 4 11.43 PLD4 0 genome.wustl.edu 37 14 105398216 105398216 + Frame_Shift_Del DEL C C - TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 14 105398216 105398216 C 0 DEL PLD4 ENST00000392593 human ensembl 74_37 +1 known frame_shift_del c.1050 p.P352fs 0.962 NULL pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD4 HGNC ENSG00000166428 49 0 0.00 72 7 8.86 PROL1 0 genome.wustl.edu 37 4 71275204 71275204 + Nonsense_Mutation SNP T T A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 4 71275204 71275204 T A SNP PROL1 ENST00000399575 human ensembl 74_37 +1 putative nonsense c.159 p.Y53* 0.000 NULL NULL - no_errors PROL1 HGNC ENSG00000171199 tier1 - - 35 0 0.00 11 22 66.67 PROL1 0 genome.wustl.edu 37 4 71275205 71275205 + Missense_Mutation SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 4 71275205 71275205 G A SNP PROL1 ENST00000399575 human ensembl 74_37 +1 putative missense c.160 p.D54N 0.000 NULL NULL - no_errors PROL1 HGNC ENSG00000171199 tier1 - - 35 0 0.00 11 25 69.44 PRSS16 0 genome.wustl.edu 37 6 27215748 27215748 + Missense_Mutation SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 6 27215748 27215748 C T SNP PRSS16 ENST00000230582 human ensembl 74_37 +1 known missense c.158 p.A53V 0.001 NULL pfam_Peptidase_S28 - no_errors PRSS16 HGNC ENSG00000112812 40 0 0.00 41 3 6.82 PRSS3 0 genome.wustl.edu 37 9 33794809 33794809 + Missense_Mutation SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 9 33794809 33794809 G A SNP PRSS3 ENST00000342836 human ensembl 74_37 +1 known missense c.20 p.S7N 0.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS3 HGNC ENSG00000010438 38 0 0.00 64 4 5.88 PRSS3 0 genome.wustl.edu 37 9 33794812 33794812 + Missense_Mutation SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 9 33794812 33794812 G T SNP PRSS3 ENST00000342836 human ensembl 74_37 +1 known missense c.23 p.G8V 0.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS3 HGNC ENSG00000010438 37 0 0.00 66 4 5.71 PTPRD 0 genome.wustl.edu 37 9 8518250 8518250 + Missense_Mutation SNP C C A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 9 8518250 8518250 C A SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.1141 p.A381S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 22 0 0.00 31 2 6.06 RAPGEF2 0 genome.wustl.edu 37 4 160259537 160259537 + Missense_Mutation SNP T T G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 4 160259537 160259537 T G SNP RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known missense c.1727 p.L576W 0.975 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 tier1 - - 87 0 0.00 16 50 75.76 RCCD1 0 genome.wustl.edu 37 15 91500556 91500556 + Missense_Mutation SNP G G C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 15 91500556 91500556 G C SNP RCCD1 ENST00000394258 human ensembl 74_37 +1 known missense c.380 p.G127A 0.001 superfamily_RCC1/BLIP-II pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCCD1 HGNC ENSG00000166965 tier1 - - 13 0 0.00 5 6 54.55 RSPH10B2 0 genome.wustl.edu 37 7 6803577 6803577 + Missense_Mutation SNP G G C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 7 6803577 6803577 G C SNP RSPH10B2 ENST00000297186 human ensembl 74_37 +1 known missense c.418 p.V140L 0.133 pfam_MORN,smart_MORN pfam_MORN,smart_MORN - no_errors RSPH10B2 HGNC ENSG00000169402 tier1 - - 109 0 0.00 107 9 7.76 RYR2 0 genome.wustl.edu 37 1 237617836 237617836 + Nonsense_Mutation SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 1 237617836 237617836 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known nonsense c.1432 p.R478* 0.011 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 51 0 0.00 18 77 81.05 SAMD3 0 genome.wustl.edu 37 6 130536494 130536495 + RNA INS - - T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 6 130536494 130536495 - T INS SAMD3 ENST00000533296 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors SAMD3 HGNC ENSG00000164483 tier1 15 0 0.00 16 3 15.79 SCP2 0 genome.wustl.edu 37 1 53516286 53516286 + Missense_Mutation SNP C C A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 1 53516286 53516286 C A SNP SCP2 ENST00000371514 human ensembl 74_37 +1 known missense c.1554 p.F518L 1.000 pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom pfam_SCP2_sterol-bd_dom,pfam_Thiolase_C,pfam_Thiolase_N,superfamily_Thiolase-like,superfamily_SCP2_sterol-bd_dom - no_errors SCP2 HGNC ENSG00000116171 42 0 0.00 35 2 5.41 SGIP1 0 genome.wustl.edu 37 1 67109265 67109267 + In_Frame_Del DEL GAA GAA - TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 1 67109265 67109267 GAA - DEL SGIP1 ENST00000237247 human ensembl 74_37 +1 known in_frame_del c.334_336 p.E115in_frame_del 1.000:1.000:1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 tier1 21 0 0.00 11 18 62.07 SIRPB2 0 genome.wustl.edu 37 20 1471971 1471971 + Missense_Mutation SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 20 1471971 1471971 G A SNP SIRPB2 ENST00000359801 human ensembl 74_37 -1 known missense c.35 p.A12V 0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIRPB2 HGNC ENSG00000196209 41 0 0.00 76 4 5.00 SLC25A41 0 genome.wustl.edu 37 19 6433618 6433618 + Silent SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 19 6433618 6433618 G A SNP SLC25A41 ENST00000321510 human ensembl 74_37 -1 known silent c.87 p.A29 0.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A41 HGNC ENSG00000181240 tier1 - - 74 0 0.00 41 40 49.38 SNORA55 0 genome.wustl.edu 37 1 40033068 40033068 + RNA SNP C C A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 1 40033068 40033068 C A SNP SNORA55 ENST00000364587 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORA55 HGNC ENSG00000201457 tier1 - - 49 0 0.00 10 25 71.43 SOX6 0 genome.wustl.edu 37 11 16071402 16071402 + Missense_Mutation SNP T T C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 11 16071402 16071402 T C SNP SOX6 ENST00000352083 human ensembl 74_37 -1 known missense c.1334 p.Q445R 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX6 HGNC ENSG00000110693 tier1 - - 58 0 0.00 40 40 50.00 STK31 0 genome.wustl.edu 37 7 23872028 23872028 + RNA DEL G G - TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 7 23872028 23872028 G - DEL STK31 ENST00000405627 human ensembl 74_37 +1 known rna NULL NULL 0.097 - - - no_errors STK31 HGNC ENSG00000196335 tier1 10 0 0.00 5 3 37.50 TBCCD1 0 genome.wustl.edu 37 3 186287935 186287935 + Missense_Mutation SNP G G C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 3 186287935 186287935 G C SNP TBCCD1 ENST00000446782 human ensembl 74_37 -1 putative missense c.9 p.D3E 0.855 NULL pfam_Tubulin-bd_cofactor_C_dom,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors TBCCD1 HGNC ENSG00000113838 tier1 - - 46 0 0.00 74 28 27.45 TBX15 0 genome.wustl.edu 37 1 119427370 119427370 + Silent SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 1 119427370 119427370 G A SNP TBX15 ENST00000207157 human ensembl 74_37 -1 known silent c.1476 p.S492 0.002 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX15 HGNC ENSG00000092607 tier1 - - 68 0 0.00 42 5 10.64 TELO2 0 genome.wustl.edu 37 16 1557008 1557008 + Missense_Mutation SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 16 1557008 1557008 G A SNP TELO2 ENST00000262319 human ensembl 74_37 +1 known missense c.2182 p.A728T 0.925 superfamily_ARM-type_fold pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 60 0 0.00 74 4 5.13 TGFBR2 0 genome.wustl.edu 37 3 30713885 30713885 + Missense_Mutation SNP C C G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 3 30713885 30713885 C G SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known missense c.1285 p.L429V 0.976 pirsf_Transform_growth_fac-b_typ-2,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 tier1 - - 21 0 0.00 4 17 80.95 TGM6 0 genome.wustl.edu 37 20 2378611 2378611 + Silent SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 20 2378611 2378611 C T SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known silent c.591 p.S197 0.994 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 tier1 - - 44 0 0.00 45 40 47.06 THBD 0 genome.wustl.edu 37 20 23029775 23029775 + Missense_Mutation SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 20 23029775 23029775 C T SNP THBD ENST00000377103 human ensembl 74_37 -1 known missense c.367 p.A123T 0.730 pirsf_CD93/CD141,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pirsf_CD93/CD141,pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin,pfscan_C-type_lectin - no_errors THBD HGNC ENSG00000178726 34 0 0.00 54 4 6.90 TLDC2 0 genome.wustl.edu 37 20 35517755 35517755 + Missense_Mutation SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 20 35517755 35517755 G A SNP TLDC2 ENST00000217320 human ensembl 74_37 +1 known missense c.614 p.C205Y 0.956 pfam_TLDc,smart_TLDc pfam_TLDc,smart_TLDc - no_errors TLDC2 HGNC ENSG00000101342 tier1 - - 72 0 0.00 90 5 5.26 TMC8 0 genome.wustl.edu 37 17 76130023 76130023 + Missense_Mutation SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 17 76130023 76130023 G T SNP TMC8 ENST00000318430 human ensembl 74_37 +1 known missense c.758 p.C253F 1.000 NULL pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 tier1 - - 40 0 0.00 43 4 8.51 TMEM59L 0 genome.wustl.edu 37 19 18729257 18729257 + Silent SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 19 18729257 18729257 C T SNP TMEM59L ENST00000262817 human ensembl 74_37 +1 known silent c.855 p.S285 1.000 NULL pfam_Uncharacterised_TMEM59 - no_errors TMEM59L HGNC ENSG00000105696 tier1 - - 59 0 0.00 70 4 5.41 TMEM60 0 genome.wustl.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 7 77423460 77423460 T - DEL TMEM60 ENST00000257663 human ensembl 74_37 -1 known frame_shift_del c.231 p.A78fs 0.998 NULL pfam_TM_Fragile-X-F-assoc - no_errors TMEM60 HGNC ENSG00000135211 tier1 41 0 0.00 69 5 6.76 TNFRSF21 0 genome.wustl.edu 37 6 47202574 47202574 + Missense_Mutation SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 6 47202574 47202574 G T SNP TNFRSF21 ENST00000296861 human ensembl 74_37 -1 known missense c.1570 p.P524T 0.957 NULL pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21 - no_errors TNFRSF21 HGNC ENSG00000146072 69 0 0.00 68 4 5.56 TP53 0 genome.wustl.edu 37 17 7578191 7578191 + Missense_Mutation SNP A A C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 17 7578191 7578191 A C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.658 p.Y220D 0.998 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 tier1 - - 68 0 0.00 19 58 75.32 TP53TG5 0 genome.wustl.edu 37 20 44004158 44004158 + Missense_Mutation SNP T T C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 20 44004158 44004158 T C SNP TP53TG5 ENST00000372726 human ensembl 74_37 -1 known missense c.289 p.N97D 0.000 NULL NULL - no_errors TP53TG5 HGNC ENSG00000124251 25 0 0.00 35 2 5.41 TPCN1 0 genome.wustl.edu 37 12 113717958 113717958 + Missense_Mutation SNP A A G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 12 113717958 113717958 A G SNP TPCN1 ENST00000541517 human ensembl 74_37 +1 known missense c.1516 p.I506V 1.000 NULL pfam_Ion_trans_dom - no_errors TPCN1 HGNC ENSG00000186815 tier1 - - 46 0 0.00 27 18 40.00 TRIM37 0 genome.wustl.edu 37 17 57109426 57109426 + Silent SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 17 57109426 57109426 G A SNP TRIM37 ENST00000262294 human ensembl 74_37 -1 known silent c.1779 p.S593 0.999 NULL pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 tier1 - - 46 0 0.00 72 5 6.49 TRIM71 0 genome.wustl.edu 37 3 32932232 32932232 + Silent SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 3 32932232 32932232 C T SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known silent c.1536 p.H512 0.990 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 tier1 - - 13 0 0.00 13 5 27.78 TRPC7 0 genome.wustl.edu 37 5 135692820 135692820 + Missense_Mutation SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 5 135692820 135692820 C T SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.256 p.V86M 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 tier1 - - 23 0 0.00 7 14 66.67 TTN 0 genome.wustl.edu 37 2 179597727 179597727 + Missense_Mutation SNP C C G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 2 179597727 179597727 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.12444 p.K4148N 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 52 0 0.00 34 8 19.05 TXLNG2P 0 genome.wustl.edu 37 Y 21753779 21753779 + RNA DEL A A - TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 Y 21753779 21753779 A - DEL TXLNG2P ENST00000488280 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors TXLNG2P HGNC ENSG00000131002 tier1 49 0 0.00 13 2 13.33 UBAC2 0 genome.wustl.edu 37 13 99890703 99890703 + Frame_Shift_Del DEL C C - TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 13 99890703 99890703 C - DEL UBAC2 ENST00000376440 human ensembl 74_37 +1 known frame_shift_del c.179 p.F61fs 1.000 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC2 HGNC ENSG00000134882 tier1 53 0 0.00 40 13 24.53 UNC93A 0 genome.wustl.edu 37 6 167728900 167728900 + Missense_Mutation SNP T T C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 6 167728900 167728900 T C SNP UNC93A ENST00000230256 human ensembl 74_37 +1 known missense c.1334 p.V445A 0.000 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 91 0 0.00 78 13 14.29 UNC93A 0 genome.wustl.edu 37 6 167728901 167728901 + Silent SNP C C G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 6 167728901 167728901 C G SNP UNC93A ENST00000230256 human ensembl 74_37 +1 known silent c.1335 p.V445 0.000 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 89 0 0.00 78 12 13.33 USH2A 0 genome.wustl.edu 37 1 215901650 215901650 + Missense_Mutation SNP C C G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 1 215901650 215901650 C G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.11788 p.D3930H 0.001 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 tier1 - - 58 0 0.00 98 6 5.77 USP14 0 genome.wustl.edu 37 18 203180 203180 + Missense_Mutation SNP A A G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 18 203180 203180 A G SNP USP14 ENST00000261601 human ensembl 74_37 +1 known missense c.1025 p.K342R 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP14 HGNC ENSG00000101557 tier1 - - 59 0 0.00 25 25 50.00 VCL 0 genome.wustl.edu 37 10 75873970 75873970 + Missense_Mutation SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 10 75873970 75873970 G A SNP VCL ENST00000211998 human ensembl 74_37 +1 known missense c.2978 p.R993H 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 21 0 0.00 27 3 10.00 VTI1A 0 genome.wustl.edu 37 10 114220329 114220329 + Silent SNP A A G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 10 114220329 114220329 A G SNP VTI1A ENST00000393077 human ensembl 74_37 +1 known silent c.141 p.E47 1.000 pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE,smart_T_SNARE_dom - no_errors VTI1A HGNC ENSG00000151532 tier1 - - 66 0 0.00 74 15 16.85 VWF 0 genome.wustl.edu 37 12 6103140 6103140 + Silent SNP G G T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 12 6103140 6103140 G T SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.6486 p.I2162 0.915 pirsf_VWF,pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 28 0 0.00 32 2 5.88 XAB2 0 genome.wustl.edu 37 19 7684915 7684915 + Silent SNP C C A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 19 7684915 7684915 C A SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known silent c.2313 p.L771 1.000 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 tier1 - - 45 0 0.00 36 9 20.00 ZFYVE1 0 genome.wustl.edu 37 14 73442338 73442338 + Missense_Mutation SNP A A G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 14 73442338 73442338 A G SNP ZFYVE1 ENST00000553891 human ensembl 74_37 -1 known missense c.1727 p.L576P 0.998 superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt_N_dom pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ENSG00000165861 tier1 - - 50 0 0.00 58 4 6.45 ZNF257 0 genome.wustl.edu 37 19 22271020 22271020 + Silent SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 19 22271020 22271020 G A SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known silent c.468 p.K156 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF257 HGNC ENSG00000197134 tier1 - - 62 0 0.00 76 4 5.00 ZNF423 0 genome.wustl.edu 37 16 49557603 49557603 + Missense_Mutation SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 16 49557603 49557603 C T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.3757 p.G1253R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 tier1 - - 39 0 0.00 13 14 51.85 ZNF440 0 genome.wustl.edu 37 19 11942659 11942659 + Missense_Mutation SNP C C G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 19 11942659 11942659 C G SNP ZNF440 ENST00000304060 human ensembl 74_37 +1 known missense c.668 p.T223S 0.989 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 ZNF440 HGNC ENSG00000171295 tier1 - - 114 0 0.00 113 31 21.53 ZNF496 0 genome.wustl.edu 37 1 247463850 247463850 + Missense_Mutation SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 1 247463850 247463850 G A SNP ZNF496 ENST00000366498 human ensembl 74_37 -1 known missense c.1843 p.R615C 1.000 pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 tier1 - - 37 0 0.00 35 7 16.67 ZNF646 0 genome.wustl.edu 37 16 31088787 31088787 + Missense_Mutation SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 16 31088787 31088787 G A SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.1142 p.R381H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 tier1 - - 50 0 0.00 23 42 64.62 ZNF767 0 genome.wustl.edu 37 7 149250069 149250069 + RNA SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 7 149250069 149250069 G A SNP ZNF767 ENST00000463567 human ensembl 74_37 -1 known rna NULL NULL 0.092 - - - no_errors ZNF767 HGNC ENSG00000133624 tier1 - - 41 0 0.00 30 16 34.78 ZNF783 0 genome.wustl.edu 37 7 148990944 148990944 + Silent SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 7 148990944 148990944 G A SNP ZNF783 ENST00000481519 human ensembl 74_37 +1 known silent c.645 p.G215 0.000 NULL NULL - no_errors ZNF783 HGNC ENSG00000204946 tier1 - - 34 0 0.00 23 4 14.81 ZNF792 0 genome.wustl.edu 37 19 35449655 35449655 + Silent SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 19 35449655 35449655 G A SNP ZNF792 ENST00000404801 human ensembl 74_37 -1 known silent c.1104 p.C368 0.984 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 ZNF792 HGNC ENSG00000180884 tier1 - - 56 0 0.00 62 4 5.97 ZNF93 0 genome.wustl.edu 37 19 20045338 20045338 + Missense_Mutation SNP T T C TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 19 20045338 20045338 T C SNP ZNF93 ENST00000343769 human ensembl 74_37 +1 known missense c.1574 p.I525T 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF93 HGNC ENSG00000184635 tier1 - - 53 0 0.00 53 10 15.62 ZWINT 0 genome.wustl.edu 37 10 58118341 58118341 + Silent SNP C C T TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a12a7c6-72e4-4d26-9c62-36662e8d831e 59e232d0-2d74-4784-ad67-5d92de200106 10 58118341 58118341 C T SNP ZWINT ENST00000373944 human ensembl 74_37 -1 known silent c.768 p.G256 0.000 NULL NULL - no_errors ZWINT HGNC ENSG00000122952 tier1 - - 44 0 0.00 33 26 44.07