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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val VWF 0 genome.wustl.edu 37 12 6153547 6153547 + Silent SNP T T C TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 12 6153547 6153547 T C SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.2352 p.E784 0.229 pirsf_VWF,superfamily_TIL_dom 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 tier1 - - 84 0 0.00 137 13 8.67 COL18A1 0 genome.wustl.edu 37 21 46908330 46908330 + Splice_Site SNP A A G TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 21 46908330 46908330 A G SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known splice_site c.3142-2 e17-2 0.936 - - - no_errors COL18A1 HGNC ENSG00000182871 tier1 - - 79 0 0.00 67 7 9.46 PLCG1 0 genome.wustl.edu 37 20 39793948 39793948 + Missense_Mutation SNP A A T TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 20 39793948 39793948 A T SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known missense c.1450 p.N484Y 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl,pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 tier1 - - 112 0 0.00 150 22 12.79 RNF38 0 genome.wustl.edu 37 9 36390530 36390530 + Silent SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 9 36390530 36390530 G A SNP RNF38 ENST00000259605 human ensembl 74_37 -1 known silent c.96 p.F32 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF38 HGNC ENSG00000137075 tier1 - - 81 0 0.00 80 13 13.83 MYL6 0 genome.wustl.edu 37 12 56552164 56552164 + R SNP C C G TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 12 56552164 56552164 C G SNP MYL6 ENST00000550639 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors MYL6 HGNC ENSG00000092841 tier1 - - 95 0 0.00 85 21 19.81 A10 0 genome.wustl.edu 37 X 153197421 153197421 + R SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 X 153197421 153197421 G A SNP A10 ENST00000393710 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors A10 HGNC ENSG00000102030 tier1 - - 145 0 0.00 136 33 19.53 RP1L1 0 genome.wustl.edu 37 8 10467754 10467754 + Missense_Mutation SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 8 10467754 10467754 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.3854 p.A1285V 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 rs201382029 - 238 1 0.42 217 20 8.44 CSH2 0 genome.wustl.edu 37 17 61950102 61950102 + Splice_Site SNP C C T TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 17 61950102 61950102 C T SNP CSH2 ENST00000392886 human ensembl 74_37 -1 known splice_site c.292-1 e4-1 0.999 - - - no_errors CSH2 HGNC ENSG00000213218 tier1 - - 45 0 0.00 65 8 10.96 TRIP6 0 genome.wustl.edu 37 7 100470808 100470808 + Silent SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 7 100470808 100470808 G A SNP TRIP6 ENST00000200457 human ensembl 74_37 +1 known silent c.1314 p.L438 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TRIP6 HGNC ENSG00000087077 tier1 - - 98 0 0.00 81 20 19.80 RNF38 0 genome.wustl.edu 37 9 36390529 36390529 + Missense_Mutation SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 9 36390529 36390529 G A SNP RNF38 ENST00000259605 human ensembl 74_37 -1 known missense c.97 p.P33S 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF38 HGNC ENSG00000137075 tier1 - - 81 0 0.00 80 13 13.98 APEH 0 genome.wustl.edu 37 3 49714115 49714115 + Missense_Mutation SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 3 49714115 49714115 G A SNP APEH ENST00000296456 human ensembl 74_37 +1 known missense c.818 p.R273H 1.000 NULL pfam_Peptidase_S9,pfam_AB_hydrolase_1,pfam_Dienelactn_hydro - no_errors APEH HGNC ENSG00000164062 tier1 - - 316 0 0.00 335 31 8.47 PKHD1L1 0 genome.wustl.edu 37 8 110487369 110487369 + Missense_Mutation SNP G G T TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 8 110487369 110487369 G T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.8628 p.Q2876H 0.999 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 78 0 0.00 107 16 13.01 DOCK8 0 genome.wustl.edu 37 9 371527 371527 + Silent SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 9 371527 371527 G A SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known silent c.1968 p.Q656 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 tier1 - - 66 0 0.00 58 18 23.68 SIM1 0 genome.wustl.edu 37 6 100838449 100838449 + Missense_Mutation SNP T T G TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 6 100838449 100838449 T G SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known missense c.2089 p.N697H 1.000 NULL pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 tier1 - - 84 0 0.00 99 20 16.81 LOC101927091 0 genome.wustl.edu 37 15 94304116 94304116 + R DEL T T - TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 15 94304116 94304116 T - DEL LOC101927091 ENST00000557481 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-3049M7.1 Clone_based_vega_gene ENSG00000258754 tier1 43 0 0.00 53 5 8.62 ZNF467 0 genome.wustl.edu 37 7 149461818 149461818 + Silent SNP G G C TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 7 149461818 149461818 G C SNP ZNF467 ENST00000302017 human ensembl 74_37 -1 known silent c.1773 p.P591 0.004 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 tier1 - - 64 0 0.00 73 8 9.88 DOCK8 0 genome.wustl.edu 37 9 371452 371452 + Silent SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 9 371452 371452 G A SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known silent c.1893 p.V631 0.998 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 tier1 - - 55 0 0.00 53 13 19.70 BRIX1 0 genome.wustl.edu 37 5 34925328 34925329 + Splice_Site INS - - A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 5 34925328 34925329 - A INS BRIX1 ENST00000336767 human ensembl 74_37 +1 known splice_site_ins c.793-3_793-2 e10-2 0.213:0.997 - - - no_errors BRIX1 HGNC ENSG00000113460 tier1 32 0 0.00 20 5 20.00 EGFLAM 0 genome.wustl.edu 37 5 38431329 38431329 + Missense_Mutation SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 5 38431329 38431329 G A SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known missense c.2105 p.R702H 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 tier1 - - 171 0 0.00 177 29 14.08 PRKACA 0 genome.wustl.edu 37 19 14204564 14204564 + Missense_Mutation SNP A A T TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 19 14204564 14204564 A T SNP PRKACA ENST00000308677 human ensembl 74_37 -1 known missense c.806 p.L269Q 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACA HGNC ENSG00000072062 tier1 - - 107 0 0.00 114 20 14.93 FBXL16 0 genome.wustl.edu 37 16 747263 747265 + In_Frame_Del DEL TGG TGG - TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 TGG TGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 16 747263 747265 TGG - DEL FBXL16 ENST00000324361 human ensembl 74_37 -1 known in_frame_del c.143_141 p.CQ47in_frame_delW 1.000:1.000:1.000 NULL superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL16 HGNC ENSG00000127585 tier1 9 0 0.00 7 5 41.67 OR10H1 0 genome.wustl.edu 37 19 15918231 15918231 + Missense_Mutation SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 19 15918231 15918231 G A SNP OR10H1 ENST00000334920 human ensembl 74_37 -1 known missense c.617 p.T206M 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H1 HGNC ENSG00000186723 tier1 - - 370 0 0.00 318 112 26.05 ZNF716 0 genome.wustl.edu 37 7 57528451 57528451 + Missense_Mutation SNP A A T TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 7 57528451 57528451 A T SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known missense c.284 p.Q95L 0.458 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 ZNF716 HGNC ENSG00000182111 tier1 - - 135 0 0.00 120 27 18.37 ACTN4 0 genome.wustl.edu 37 19 39214576 39214576 + Splice_Site SNP G G C TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 19 39214576 39214576 G C SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known splice_site c.1552-1 e14-1 1.000 - - - no_errors ACTN4 HGNC ENSG00000130402 tier1 - - 112 1 0.88 137 48 25.95 ENSG00000167765 0 genome.wustl.edu 37 19 52097256 52097256 + Missense_Mutation SNP T T C TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 19 52097256 52097256 T C SNP ENSG00000167765 ENST00000301439 human ensembl 74_37 -1 known missense c.319 p.I107V 0.000 NULL NULL - no_errors AC018755.1 Clone_based_ensembl_gene ENSG00000167765 tier1 - - 156 0 0.00 161 18 10.06 CLCN1 0 genome.wustl.edu 37 7 143048760 143048760 + Missense_Mutation SNP C C T TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 7 143048760 143048760 C T SNP CLCN1 ENST00000343257 human ensembl 74_37 +1 known missense c.2669 p.T890M 0.835 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC ENSG00000188037 tier1 - - 83 0 0.00 90 8 8.16 SPHKAP 0 genome.wustl.edu 37 2 228883090 228883090 + Missense_Mutation SNP G G T TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 2 228883090 228883090 G T SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.2480 p.T827K 0.003 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 tier1 - - 196 0 0.00 122 33 21.29 ENSG00000263120 0 genome.wustl.edu 37 17 55062464 55062465 + R INS - - GAAAA TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 17 55062464 55062465 - GAAAA INS ENSG00000263120 ENST00000572877 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors RP5-1107A17.4 Clone_based_vega_gene ENSG00000263120 tier1 KRT32 0 genome.wustl.edu 37 17 39623131 39623131 + Silent SNP G G T TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 17 39623131 39623131 G T SNP KRT32 ENST00000225899 human ensembl 74_37 -1 known silent c.447 p.T149 0.974 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT32 HGNC ENSG00000108759 tier1 - - 167 0 0.00 131 35 21.08 ARHGAP27 0 genome.wustl.edu 37 17 43507621 43507621 + Missense_Mutation SNP C C T TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 17 43507621 43507621 C T SNP ARHGAP27 ENST00000428638 human ensembl 74_37 -1 known missense c.25 p.V9M 1.000 superfamily_SH3_domain pfam_RhoGAP_dom,pfam_WW_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ENSG00000159314 tier1 - - 140 0 0.00 167 23 12.11 MEN1 0 genome.wustl.edu 37 11 64572627 64572627 + Frame_Shift_Del DEL A A - TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 11 64572627 64572627 A - DEL MEN1 ENST00000337652 human ensembl 74_37 -1 known frame_shift_del c.1244 p.F415fs 1.000 pfam_Menin pfam_Menin - no_errors MEN1 HGNC ENSG00000133895 tier1 105 0 0.00 51 20 28.17 FAM184B 0 genome.wustl.edu 37 4 17706653 17706653 + Silent SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 4 17706653 17706653 G A SNP FAM184B ENST00000265018 human ensembl 74_37 -1 known silent c.1347 p.S449 0.000 NULL NULL - no_errors FAM184B HGNC ENSG00000047662 tier1 - - 188 0 0.00 218 44 16.79 GEMIN4 0 genome.wustl.edu 37 17 650858 650858 + Missense_Mutation SNP T T G TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 17 650858 650858 T G SNP GEMIN4 ENST00000319004 human ensembl 74_37 -1 known missense c.425 p.E142A 0.128 NULL NULL - no_errors GEMIN4 HGNC ENSG00000179409 tier1 - - 128 0 0.00 97 26 21.14 LAMC3 0 genome.wustl.edu 37 9 133914292 133914292 + Missense_Mutation SNP C C T TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 9 133914292 133914292 C T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known missense c.1018 p.R340W 0.990 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 tier1 rs146887458 - 42 0 0.00 61 13 17.57 FAM47C 0 genome.wustl.edu 37 X 37027354 37027354 + Missense_Mutation SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 X 37027354 37027354 G A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.871 p.V291I 0.001 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 - - 274 1 0.36 282 58 17.01 MUC19 0 genome.wustl.edu 37 12 40821225 40821225 + Silent SNP C C T TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 12 40821225 40821225 C T SNP MUC19 ENST00000454784 human ensembl 74_37 +1 novel silent c.447 p.S149 0.973 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 143 1 0.69 112 22 16.42 PTP4A2 0 genome.wustl.edu 37 1 32385072 32385072 + R DEL A A - TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 1 32385072 32385072 A - DEL PTP4A2 ENST00000494444 human ensembl 74_37 -1 known rna NULL NULL 0.787 - - - no_errors PTP4A2 HGNC ENSG00000184007 tier1 16 0 0.00 18 3 14.29 BCORL1 0 genome.wustl.edu 37 X 129147217 129147217 + Missense_Mutation SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 X 129147217 129147217 G A SNP BCORL1 ENST00000303743 human ensembl 74_37 +1 known missense c.469 p.A157T 0.042 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 tier1 rs147775035 - 110 0 0.00 127 38 22.89 RNF38 0 genome.wustl.edu 37 9 36390607 36390607 + Missense_Mutation SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 9 36390607 36390607 G A SNP RNF38 ENST00000259605 human ensembl 74_37 -1 known missense c.19 p.P7S 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF38 HGNC ENSG00000137075 tier1 - - 62 0 0.00 60 9 13.04 RAB11FIP5 0 genome.wustl.edu 37 2 73316055 73316055 + Missense_Mutation SNP G G C TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 2 73316055 73316055 G C SNP RAB11FIP5 ENST00000258098 human ensembl 74_37 -1 known missense c.820 p.L274V 1.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP5 HGNC ENSG00000135631 tier1 - - 107 0 0.00 105 14 11.76 TREML4 0 genome.wustl.edu 37 6 41197265 41197265 + Missense_Mutation SNP C C G TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 6 41197265 41197265 C G SNP TREML4 ENST00000341495 human ensembl 74_37 +1 known missense c.401 p.T134S 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors TREML4 HGNC ENSG00000188056 tier1 - - 209 0 0.00 196 55 21.91 SYCN 0 genome.wustl.edu 37 19 39694754 39694754 + Silent SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 19 39694754 39694754 G A SNP SYCN ENST00000318438 human ensembl 74_37 -1 known silent c.141 p.P47 1.000 NULL NULL - no_errors SYCN HGNC ENSG00000179751 tier1 - - 142 0 0.00 390 83 17.47 ACTN4 0 genome.wustl.edu 37 19 39214715 39214715 + Missense_Mutation SNP G G C TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 19 39214715 39214715 G C SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known missense c.1690 p.E564Q 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 tier1 - - 168 0 0.00 187 95 33.69 FOXP3 0 genome.wustl.edu 37 X 49114812 49114812 + Nonsense_Mutation SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 X 49114812 49114812 G A SNP FOXP3 ENST00000376207 human ensembl 74_37 -1 known nonsense c.151 p.R51* 0.233 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP3 HGNC ENSG00000049768 tier1 - - 100 0 0.00 131 17 11.49 C16orf78 0 genome.wustl.edu 37 16 49412407 49412407 + Silent SNP C C T TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 16 49412407 49412407 C T SNP C16orf78 ENST00000299191 human ensembl 74_37 +1 known silent c.297 p.D99 0.000 NULL NULL - no_errors C16orf78 HGNC ENSG00000166152 tier1 rs143423404 - 130 0 0.00 145 26 15.20 ENSG00000253629 0 genome.wustl.edu 37 8 102698815 102698815 + R SNP C C G TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 8 102698815 102698815 C G SNP ENSG00000253629 ENST00000518749 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors KB-1107E3.1 Clone_based_vega_gene ENSG00000253629 tier1 - - 48 0 0.00 48 12 20.00 TEKT3 0 genome.wustl.edu 37 17 15207230 15207230 + R SNP C C T TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 17 15207230 15207230 C T SNP TEKT3 ENST00000462175 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors TEKT3 HGNC ENSG00000125409 tier1 - - 81 0 0.00 104 12 10.26 HERC2 0 genome.wustl.edu 37 15 28359945 28359945 + Missense_Mutation SNP C C T TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 15 28359945 28359945 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.13726 p.D4576N 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 112 0 0.00 108 28 20.59 FGD4 0 genome.wustl.edu 37 12 32751500 32751500 + Nonsense_Mutation SNP C C T TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 12 32751500 32751500 C T SNP FGD4 ENST00000427716 human ensembl 74_37 +1 known nonsense c.670 p.R224* 0.988 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC ENSG00000139132 tier1 rs118203972 - 48 0 0.00 34 10 22.73 MAP3K15 0 genome.wustl.edu 37 X 19398277 19398277 + Silent SNP C C T TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 X 19398277 19398277 C T SNP MAP3K15 ENST00000338883 human ensembl 74_37 -1 known silent c.2550 p.P850 0.241 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K15 HGNC ENSG00000180815 tier1 - - 74 0 0.00 107 15 12.30 CIDEA 0 genome.wustl.edu 37 18 12254562 12254563 + Frame_Shift_Ins INS - - CCGCGCACACACCCAT TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 18 12254562 12254563 - CCGCGCACACACCCAT INS CIDEA ENST00000522713 human ensembl 74_37 +1 known frame_shift_ins c.180_181 p.H64fs 0.077:0.122 NULL NULL - no_errors CIDEA HGNC ENSG00000176194 tier1 NOP14 0 genome.wustl.edu 37 4 2958424 2958424 + Missense_Mutation SNP C C T TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 4 2958424 2958424 C T SNP NOP14 ENST00000416614 human ensembl 74_37 -1 known missense c.445 p.D149N 1.000 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 tier1 rs149998901 - 49 0 0.00 55 8 12.70 XKR7 0 genome.wustl.edu 37 20 30584994 30584994 + Missense_Mutation SNP C C T TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 20 30584994 30584994 C T SNP XKR7 ENST00000562532 human ensembl 74_37 +1 known missense c.1474 p.R492C 0.996 NULL pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000260903 tier1 - - 72 0 0.00 71 18 19.78 DOCK8 0 genome.wustl.edu 37 9 371546 371546 + Missense_Mutation SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 9 371546 371546 G A SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known missense c.1987 p.E663K 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 tier1 - - 70 0 0.00 55 20 26.67 MCF2L2 0 genome.wustl.edu 37 3 182937682 182937682 + Missense_Mutation SNP T T A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 3 182937682 182937682 T A SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known missense c.2332 p.M778L 0.638 superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 tier1 - - 55 0 0.00 51 10 16.39 HAUS6 0 genome.wustl.edu 37 9 19087122 19087122 + Missense_Mutation SNP G G C TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 9 19087122 19087122 G C SNP HAUS6 ENST00000380502 human ensembl 74_37 -1 known missense c.617 p.S206C 0.993 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 tier1 - - 120 0 0.00 106 21 16.54 CPNE1 0 genome.wustl.edu 37 20 34220147 34220147 + Nonsense_Mutation SNP G G A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 20 34220147 34220147 G A SNP CPNE1 ENST00000317677 human ensembl 74_37 -1 known nonsense c.409 p.Q137* 1.000 superfamily_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE1 HGNC ENSG00000214078 tier1 - - 132 0 0.00 133 27 16.77 LRBA 0 genome.wustl.edu 37 4 151502697 151502698 + R INS - - A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 4 151502697 151502698 - A INS LRBA ENST00000503716 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors LRBA HGNC ENSG00000198589 tier1 26 0 0.00 24 4 14.29 SCAND3 0 genome.wustl.edu 37 6 28543143 28543143 + Missense_Mutation SNP C C G TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 6 28543143 28543143 C G SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.1339 p.V447L 0.999 pfam_Integrase_cat-core,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 tier1 - - 80 0 0.00 67 6 8.22 PCLO 0 genome.wustl.edu 37 7 82585951 82585951 + Nonsense_Mutation SNP C C A TCGA-DX-A6BK-01A-11D-A307-09 TCGA-DX-A6BK-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 1f9880e9-9009-4ed4-848d-e09740417390 aa4de766-b1c9-4fc1-8163-69c7643ff109 7 82585951 82585951 C A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known nonsense c.4318 p.E1440* 0.000 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 tier1 - - 200 0 0.00 197 18 8.37