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 CDHR1 0 genome.wustl.edu 37 10 85974228 85974228 + Missense_Mutation SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 10 85974228 85974228 G A SNP CDHR1 ENST00000372117 human ensembl 74_37 +1 known missense c.2431 p.V811M 0.997 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 tier1 - - 20 0 0.00 28 12 30.00 28 0 0.00 27 3 10.00 RNF213 0 genome.wustl.edu 37 17 78360610 78360610 + Silent SNP C C T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 17 78360610 78360610 C T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.14841 p.T4947 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 rs139685293 - 21 0 0.00 20 10 33.33 49 0 0.00 54 7 11.48 DH8 0 genome.wustl.edu 37 6 38705605 38705605 + Missense_Mutation SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 6 38705605 38705605 G A SNP DH8 ENST00000359357 human ensembl 74_37 +1 known missense c.322 p.G108R 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH8 HGNC ENSG00000124721 tier1 - - 57 0 0.00 50 12 19.35 55 0 0.00 33 9 21.43 MDN1 0 genome.wustl.edu 37 6 90450009 90450009 + Missense_Mutation SNP T T C TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 6 90450009 90450009 T C SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.4537 p.K1513E 0.992 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 - - 56 0 0.00 51 44 46.32 123 0 0.00 85 63 42.57 IGF2BP1 0 genome.wustl.edu 37 17 47115649 47115649 + Missense_Mutation SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 17 47115649 47115649 G A SNP IGF2BP1 ENST00000290341 human ensembl 74_37 +1 known missense c.521 p.R174Q 1.000 NULL pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC ENSG00000159217 tier1 - - 91 0 0.00 104 64 38.10 29 0 0.00 12 6 33.33 LRP1 0 genome.wustl.edu 37 12 57593005 57593005 + Silent SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 12 57593005 57593005 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.9687 p.Q3229 0.999 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 - - 18 0 0.00 29 8 21.62 49 0 0.00 39 8 17.02 SELP 0 genome.wustl.edu 37 1 169572298 169572298 + Silent SNP C C T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 1 169572298 169572298 C T SNP SELP ENST00000263686 human ensembl 74_37 -1 known silent c.1671 p.S557 0.323 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 tier1 - - 66 0 0.00 48 20 29.41 127 1 0.78 69 16 18.39 ELMOD1 0 genome.wustl.edu 37 11 107535878 107535878 + Silent SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 11 107535878 107535878 G A SNP ELMOD1 ENST00000265840 human ensembl 74_37 +1 known silent c.960 p.A320 0.005 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD1 HGNC ENSG00000110675 tier1 - - 53 0 0.00 11 9 45.00 106 0 0.00 13 24 64.86 MUC5B 0 genome.wustl.edu 37 11 1280228 1280228 + Silent SNP G G T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 11 1280228 1280228 G T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.16659 p.G5553 0.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_type-D,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_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 50 0 0.00 40 17 29.82 88 0 0.00 33 13 28.26 PXDNL 0 genome.wustl.edu 37 8 52287285 52287285 + Silent SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 8 52287285 52287285 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known silent c.3564 p.Y1188 0.001 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 - - 51 0 0.00 18 35 66.04 82 0 0.00 37 40 51.95 AIPL1 0 genome.wustl.edu 37 17 6330048 6330048 + Missense_Mutation SNP T T A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 17 6330048 6330048 T A SNP AIPL1 ENST00000381129 human ensembl 74_37 -1 known missense c.671 p.K224M 1.000 NULL pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors AIPL1 HGNC ENSG00000129221 tier1 - - 30 0 0.00 32 22 40.74 30 0 0.00 22 13 37.14 PSMD7 0 genome.wustl.edu 37 16 74339214 74339214 + Silent SNP T T A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 16 74339214 74339214 T A SNP PSMD7 ENST00000219313 human ensembl 74_37 +1 known silent c.558 p.T186 0.985 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors PSMD7 HGNC ENSG00000103035 tier1 - - 24 0 0.00 26 24 48.00 97 0 0.00 62 39 38.61 ANXA4 0 genome.wustl.edu 37 2 70043324 70043324 + Missense_Mutation SNP A A T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 2 70043324 70043324 A T SNP ANXA4 ENST00000394295 human ensembl 74_37 +1 known missense c.626 p.H209L 1.000 pfam_Annexin_repeat,smart_Annexin_repeat,prints_AnnexinV pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV,prints_AnnexinV - no_errors ANXA4 HGNC ENSG00000196975 tier1 - - 61 0 0.00 41 16 28.07 152 0 0.00 60 36 37.50 LRP1 0 genome.wustl.edu 37 12 57594262 57594262 + Nonsense_Mutation SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 12 57594262 57594262 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known nonsense c.10052 p.W3351* 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 - - 29 0 0.00 50 8 13.79 54 0 0.00 56 13 18.57 TIGD7 0 genome.wustl.edu 37 16 3349014 3349014 + Missense_Mutation SNP T T C TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 16 3349014 3349014 T C SNP TIGD7 ENST00000268674 human ensembl 74_37 -1 known missense c.1601 p.N534S 0.996 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_D-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_D-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 tier1 - - 92 0 0.00 74 60 44.78 167 0 0.00 79 53 40.15 ENSG00000257395 0 genome.wustl.edu 37 14 20151749 20151749 + R SNP T T A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 14 20151749 20151749 T A SNP ENSG00000257395 ENST00000547175 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-597A11.2 Clone_based_vega_gene ENSG00000257395 tier1 - - 21 0 0.00 9 3 25.00 15 0 0.00 12 2 14.29 CHGB 0 genome.wustl.edu 37 20 5904558 5904558 + Missense_Mutation SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 20 5904558 5904558 G A SNP CHGB ENST00000378961 human ensembl 74_37 +1 known missense c.1768 p.A590T 0.000 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 tier1 rs148235020 - 73 0 0.00 39 46 54.12 66 0 0.00 40 27 39.71 HAO1 0 genome.wustl.edu 37 20 7894822 7894822 + Silent SNP C C T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 20 7894822 7894822 C T SNP HAO1 ENST00000378789 human ensembl 74_37 -1 known silent c.534 p.P178 0.926 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO1 HGNC ENSG00000101323 tier1 - - 47 0 0.00 21 25 54.35 143 0 0.00 50 71 58.20 HUWE1 0 genome.wustl.edu 37 X 53631666 53631666 + Missense_Mutation SNP A A G TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b X 53631666 53631666 A G SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.2626 p.C876R 0.989 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 23 0 0.00 47 41 46.59 27 0 0.00 67 35 33.98 DGKK 0 genome.wustl.edu 37 X 50114724 50114724 + R SNP T T C TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b X 50114724 50114724 T C SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors DGKK HGNC ENSG00000204466 tier1 - - 32 0 0.00 39 12 23.53 72 1 1.37 114 19 14.29 USP10 0 genome.wustl.edu 37 16 84801916 84801916 + Missense_Mutation SNP G G C TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 16 84801916 84801916 G C SNP USP10 ENST00000570191 human ensembl 74_37 +1 known missense c.1962 p.L654F 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67 - no_errors USP10 HGNC ENSG00000103194 tier1 - - 27 0 0.00 31 8 20.51 74 1 1.33 47 18 27.69 WIZ 0 genome.wustl.edu 37 19 15547866 15547866 + Missense_Mutation SNP C C T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 19 15547866 15547866 C T SNP WIZ ENST00000389282 human ensembl 74_37 -1 known missense c.2347 p.G783S 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 tier1 - - 58 0 0.00 44 60 57.69 51 0 0.00 17 39 69.64 KIF19 0 genome.wustl.edu 37 17 72340475 72340475 + Missense_Mutation SNP C C G TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 17 72340475 72340475 C G SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known missense c.570 p.I190M 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 tier1 - - 10 0 0.00 11 8 42.11 34 0 0.00 17 20 54.05 GABRA1 0 genome.wustl.edu 37 5 161309663 161309663 + Missense_Mutation SNP T T C TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 5 161309663 161309663 T C SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.659 p.L220P 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 tier1 - - 55 0 0.00 50 8 13.79 194 0 0.00 109 28 20.44 ATP7B 0 genome.wustl.edu 37 13 52536007 52536007 + Missense_Mutation SNP C C A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 13 52536007 52536007 C A SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known missense c.1912 p.A638S 0.995 superfamily_HeavyMe-assoc_HMA pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 tier1 - - 69 0 0.00 93 26 21.85 124 0 0.00 97 25 20.33 IL12RB1 0 genome.wustl.edu 37 19 18179264 18179264 + Missense_Mutation SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 19 18179264 18179264 G A SNP IL12RB1 ENST00000593993 human ensembl 74_37 -1 known missense c.1262 p.S421F 0.646 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB1 HGNC ENSG00000096996 tier1 rs201548803 - 45 0 0.00 98 47 32.41 70 0 0.00 134 29 17.79 CTN2 0 genome.wustl.edu 37 2 80085281 80085281 + Missense_Mutation SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 2 80085281 80085281 G A SNP CTN2 ENST00000361291 human ensembl 74_37 +1 known missense c.543 p.M181I 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTN2 HGNC ENSG00000066032 tier1 - - 23 0 0.00 25 11 30.56 80 0 0.00 39 12 23.53 CNTN2 0 genome.wustl.edu 37 1 205028265 205028265 + Missense_Mutation SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 1 205028265 205028265 G A SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known missense c.541 p.G181R 0.980 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 tier1 - - 32 0 0.00 17 10 37.04 106 0 0.00 42 17 28.81 UBXN8 0 genome.wustl.edu 37 8 30601706 30601706 + R SNP C C T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 8 30601706 30601706 C T SNP UBXN8 ENST00000265616 human ensembl 74_37 +1 known rna NULL NULL 0.193 - - - no_errors UBXN8 HGNC ENSG00000104691 tier1 - - 37 0 0.00 27 15 35.71 48 0 0.00 36 29 43.94 MYT1L 0 genome.wustl.edu 37 2 1947065 1947065 + Missense_Mutation SNP T T A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 2 1947065 1947065 T A SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.194 p.D65V 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 42 0 0.00 10 18 64.29 59 0 0.00 11 13 54.17 LOC149134 0 genome.wustl.edu 37 1 246954051 246954051 + R SNP C C A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 1 246954051 246954051 C A SNP LOC149134 ENST00000419361 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors RP11-439E19.3 Clone_based_vega_gene ENSG00000227953 tier1 - - 48 0 0.00 51 19 27.14 170 0 0.00 114 39 25.49 USP25 0 genome.wustl.edu 37 21 17183456 17183456 + Silent SNP G G T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 21 17183456 17183456 G T SNP USP25 ENST00000400183 human ensembl 74_37 +1 known silent c.858 p.T286 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP25 HGNC ENSG00000155313 tier1 - - 111 0 0.00 83 24 22.43 116 0 0.00 78 14 15.22 ENSG00000180458 0 genome.wustl.edu 37 19 38039815 38039815 + R SNP C C T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 19 38039815 38039815 C T SNP ENSG00000180458 ENST00000316807 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors CTD-3064H18.4 Clone_based_vega_gene ENSG00000180458 tier1 - - 98 0 0.00 106 36 25.35 11 0 0.00 13 5 27.78 PKP2 0 genome.wustl.edu 37 12 32977078 32977078 + Silent SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 12 32977078 32977078 G A SNP PKP2 ENST00000070846 human ensembl 74_37 -1 known silent c.1707 p.G569 0.996 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 tier1 - - 37 0 0.00 23 7 23.33 51 0 0.00 22 8 26.67 FCGR3A 0 genome.wustl.edu 37 1 161512900 161512900 + Missense_Mutation SNP T T C TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 1 161512900 161512900 T C SNP FCGR3A ENST00000367969 human ensembl 74_37 -1 known missense c.775 p.T259A 0.997 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCGR3A HGNC ENSG00000203747 tier1 - - 84 0 0.00 71 27 27.55 89 0 0.00 60 24 28.57 SEZ6L 0 genome.wustl.edu 37 22 26688873 26688873 + Missense_Mutation SNP C C A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 22 26688873 26688873 C A SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known missense c.596 p.P199H 0.930 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 tier1 - - 31 0 0.00 25 13 34.21 87 0 0.00 71 22 23.66 TTN 0 genome.wustl.edu 37 2 179470001 179470001 + Missense_Mutation SNP C C T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 2 179470001 179470001 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.46199 p.R15400H 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,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 rs200100660 - 63 0 0.00 30 24 43.64 73 0 0.00 34 18 34.62 ATP6V0A4 0 genome.wustl.edu 37 7 138429926 138429926 + Silent SNP A A G TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 7 138429926 138429926 A G SNP ATP6V0A4 ENST00000310018 human ensembl 74_37 -1 known silent c.1420 p.L474 0.009 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A4 HGNC ENSG00000105929 tier1 - - 45 0 0.00 39 33 45.21 110 0 0.00 68 52 43.33 USH2A 0 genome.wustl.edu 37 1 216256823 216256823 + Missense_Mutation SNP T T A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 1 216256823 216256823 T A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.5273 p.N1758I 0.994 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G 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 - - 140 0 0.00 55 33 37.50 171 0 0.00 30 20 40.00 ZSCAN31 0 genome.wustl.edu 37 6 28297405 28297405 + Missense_Mutation SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 6 28297405 28297405 G A SNP ZSCAN31 ENST00000344279 human ensembl 74_37 -1 known missense c.56 p.P19L 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN31 HGNC ENSG00000235109 tier1 - - 62 0 0.00 35 21 37.50 161 0 0.00 61 27 30.68 OR1A1 0 genome.wustl.edu 37 17 3119374 3119374 + Missense_Mutation SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 17 3119374 3119374 G A SNP OR1A1 ENST00000304094 human ensembl 74_37 +1 known missense c.460 p.A154T 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A1 HGNC ENSG00000172146 tier1 - - 27 0 0.00 24 20 45.45 60 0 0.00 36 14 28.00 PLAGL2 0 genome.wustl.edu 37 20 30784433 30784433 + Missense_Mutation SNP A A T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 20 30784433 30784433 A T SNP PLAGL2 ENST00000246229 human ensembl 74_37 -1 known missense c.1313 p.V438D 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAGL2 HGNC ENSG00000126003 tier1 - - 35 0 0.00 51 12 19.05 68 0 0.00 68 11 13.92 ADAMDEC1 0 genome.wustl.edu 37 8 24254877 24254877 + Missense_Mutation SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 8 24254877 24254877 G A SNP ADAMDEC1 ENST00000256412 human ensembl 74_37 +1 known missense c.535 p.E179K 0.073 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAMDEC1 HGNC ENSG00000134028 tier1 - - 49 0 0.00 37 8 17.78 136 0 0.00 74 27 26.73 SPTB 0 genome.wustl.edu 37 14 65220346 65220346 + Missense_Mutation SNP C C T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 14 65220346 65220346 C T SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.6511 p.A2171T 0.997 pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 tier1 - - 26 0 0.00 13 8 38.10 34 0 0.00 22 17 43.59 ZNF280A 0 genome.wustl.edu 37 22 22869380 22869380 + Missense_Mutation SNP G G T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 22 22869380 22869380 G T SNP ZNF280A ENST00000302097 human ensembl 74_37 -1 known missense c.575 p.S192Y 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280A HGNC ENSG00000169548 tier1 - - 21 0 0.00 35 7 16.67 162 0 0.00 77 34 30.63 PRAMEF22 0 genome.wustl.edu 37 1 13036643 13036643 + Missense_Mutation SNP C C G TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 1 13036643 13036643 C G SNP PRAMEF22 ENST00000376187 human ensembl 74_37 +1 known missense c.715 p.L239V 0.014 NULL NULL - no_errors PRAMEF22 HGNC ENSG00000204508 tier1 - - 253 0 0.00 257 104 28.81 132 0 0.00 99 52 34.44 PNPLA7 0 genome.wustl.edu 37 9 140395146 140395146 + Missense_Mutation SNP T T C TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 9 140395146 140395146 T C SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known missense c.1754 p.Y585C 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 tier1 - - 54 0 0.00 82 25 23.36 46 0 0.00 31 6 16.22 ZFR2 0 genome.wustl.edu 37 19 3806098 3806098 + Missense_Mutation SNP C C T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 19 3806098 3806098 C T SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known missense c.2669 p.R890Q 1.000 pfam_DZF,smart_DZF pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 tier1 - - 8 0 0.00 27 7 20.59 11 0 0.00 10 3 23.08 KLK12 0 genome.wustl.edu 37 19 51537872 51537872 + Silent SNP C C T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 19 51537872 51537872 C T SNP KLK12 ENST00000250351 human ensembl 74_37 -1 known silent c.6 p.G2 0.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK12 HGNC ENSG00000186474 tier1 - - 52 0 0.00 38 13 25.49 124 0 0.00 47 23 32.86 ALG6 0 genome.wustl.edu 37 1 63879619 63879619 + R SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 1 63879619 63879619 G A SNP ALG6 ENST00000465969 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ALG6 HGNC ENSG00000088035 tier1 - - 65 0 0.00 45 16 26.23 101 0 0.00 48 23 32.39 CDHR2 0 genome.wustl.edu 37 5 176002819 176002819 + Missense_Mutation SNP G G C TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 5 176002819 176002819 G C SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known missense c.939 p.E313D 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 tier1 - - 48 0 0.00 69 11 13.75 32 0 0.00 58 13 18.31 RHOBTB1 0 genome.wustl.edu 37 10 62648024 62648024 + Missense_Mutation SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 10 62648024 62648024 G A SNP RHOBTB1 ENST00000337910 human ensembl 74_37 -1 known missense c.1402 p.H468Y 1.000 superfamily_BTB/POZ_fold pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB1 HGNC ENSG00000072422 tier1 - - 33 0 0.00 56 7 11.11 120 0 0.00 100 13 11.40 THBS4 0 genome.wustl.edu 37 5 79351744 79351744 + Silent SNP C C G TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 5 79351744 79351744 C G SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known silent c.429 p.L143 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 tier1 - - 34 0 0.00 17 13 43.33 112 0 0.00 72 47 39.50 CAPN12 0 genome.wustl.edu 37 19 39229227 39229227 + Missense_Mutation SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 19 39229227 39229227 G A SNP CAPN12 ENST00000328867 human ensembl 74_37 -1 known missense c.791 p.T264M 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC ENSG00000182472 tier1 - - 38 0 0.00 60 15 20.00 77 0 0.00 87 31 26.27 TFR2 0 genome.wustl.edu 37 7 100218565 100218565 + Missense_Mutation SNP C C T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 7 100218565 100218565 C T SNP TFR2 ENST00000223051 human ensembl 74_37 -1 known missense c.2321 p.R774H 1.000 pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFR2 HGNC ENSG00000106327 tier1 - - 47 0 0.00 39 8 17.02 34 0 0.00 23 6 20.69 CASP8AP2 0 genome.wustl.edu 37 6 90583756 90583756 + R SNP T T A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 6 90583756 90583756 T A SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.902 - - - no_errors CASP8AP2 HGNC ENSG00000118412 tier1 - - 41 0 0.00 54 16 22.86 49 0 0.00 30 9 22.50 LRP1 0 genome.wustl.edu 37 12 57595284 57595284 + Silent SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 12 57595284 57595284 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.10350 p.E3450 0.997 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 - - 47 0 0.00 44 23 34.33 99 0 0.00 104 30 22.22 CTNND2 0 genome.wustl.edu 37 5 10973629 10973629 + Missense_Mutation SNP C C T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 5 10973629 10973629 C T SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.3614 p.R1205H 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 tier1 - - 27 0 0.00 27 9 25.00 162 0 0.00 83 65 43.92 VPS13A 0 genome.wustl.edu 37 9 79897094 79897094 + Missense_Mutation SNP A A C TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 9 79897094 79897094 A C SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.3022 p.N1008H 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 tier1 - - 86 0 0.00 69 24 25.81 81 0 0.00 43 13 23.21 RB1 0 genome.wustl.edu 37 13 48947546 48947546 + Frame_Shift_Del DEL T T - TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 13 48947546 48947546 T - DEL RB1 ENST00000267163 human ensembl 74_37 +1 known frame_shift_del c.1133 p.M379fs 1.000 pfam_RB_A pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 36 0 0.00 29 27 48.21 100 0 0.00 32 24 42.86 ATRX 0 genome.wustl.edu 37 X 76938366 76938367 + Frame_Shift_Ins INS - - T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b X 76938366 76938367 - T INS ATRX ENST00000373344 human ensembl 74_37 -1 known frame_shift_ins c.2382_2381 p.K796fs 0.987:0.998 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 42 0 0.00 16 34 68.00 54 0 0.00 11 22 66.67 SMCR5 0 genome.wustl.edu 37 17 17682105 17682106 + R DEL TG TG - TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 TG TG TG - TG TG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 17 17682105 17682106 TG - DEL SMCR5 ENST00000543475 human ensembl 74_37 -1 known rna NULL NULL 0.018:0.381 - - - no_errors SMCR5 HGNC ENSG00000226746 tier1 23 0 0.00 28 21 42.86 125 0 0.00 54 46 46.00 ALOX5 0 genome.wustl.edu 37 10 45939709 45939709 + Missense_Mutation SNP C C T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 10 45939709 45939709 C T SNP ALOX5 ENST00000374391 human ensembl 74_37 +1 known missense c.1820 p.A607V 1.000 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom - no_errors ALOX5 HGNC ENSG00000012779 tier1 - - 99 0 0.00 25 86 77.48 18 0 0.00 0 7 100.00 ENSG00000221317 0 genome.wustl.edu 37 X 121605625 121605625 + R SNP T T A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b X 121605625 121605625 T A SNP ENSG00000221317 ENST00000408390 human ensembl 74_37 -1 novel rna NULL NULL 0.030 - - - no_errors AL513487.1 Clone_based_ensembl_gene ENSG00000221317 tier1 - - 21 0 0.00 5 31 86.11 24 0 0.00 0 16 100.00 ZNF732 0 genome.wustl.edu 37 4 265951 265951 + Missense_Mutation SNP A A C TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 4 265951 265951 A C SNP ZNF732 ENST00000419098 human ensembl 74_37 -1 known missense c.695 p.F232C 0.264 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 ZNF732 HGNC ENSG00000186777 tier1 - - 28 0 0.00 28 25 47.17 22 0 0.00 8 5 38.46 LILRB4 0 genome.wustl.edu 37 19 55179188 55179188 + Nonsense_Mutation SNP G G T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 19 55179188 55179188 G T SNP LILRB4 ENST00000270452 human ensembl 74_37 +1 known nonsense c.1144 p.E382* 0.008 NULL pfam_Immunoglobulin,pfscan_Ig-like_dom - no_errors LILRB4 HGNC ENSG00000186818 tier1 - - 79 0 0.00 90 12 11.76 52 0 0.00 67 7 9.21 APPBP2 0 genome.wustl.edu 37 17 58529372 58529372 + Missense_Mutation SNP A A T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 17 58529372 58529372 A T SNP APPBP2 ENST00000083182 human ensembl 74_37 -1 known missense c.1373 p.I458N 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors APPBP2 HGNC ENSG00000062725 tier1 - - 67 0 0.00 60 13 17.81 104 0 0.00 90 5 5.26 PITPNM2 0 genome.wustl.edu 37 12 123485013 123485013 + Missense_Mutation SNP T T A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 12 123485013 123485013 T A SNP PITPNM2 ENST00000546049 human ensembl 74_37 -1 putative missense c.1351 p.I451F 0.295 NULL pfam_PI_transfer,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 tier1 - - 35 0 0.00 22 6 21.43 75 0 0.00 50 5 9.09 ENSG00000215933 0 genome.wustl.edu 37 X 71372204 71372213 + R DEL CGCGCACACA CGCGCACACA - TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 CGCGCACACA CGCGCACACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b X 71372204 71372213 CGCGCACACA - DEL ENSG00000215933 ENST00000401114 human ensembl 74_37 -1 novel rna NULL NULL 0.000:0.000:0.000:0.001:0.015:0.009:0.008:0.004:0.003:0.003 - - - no_errors BX119917.1 Clone_based_ensembl_gene ENSG00000215933 tier1 6 0 0.00 6 0 0.00 6 0 0.00 6 0 0.00 HMGB2 0 genome.wustl.edu 37 4 174253279 174253279 + Silent SNP C C T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 4 174253279 174253279 C T SNP HMGB2 ENST00000296503 human ensembl 74_37 -1 known silent c.582 p.E194 0.850 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB2 HGNC ENSG00000164104 tier1 - - 36 0 0.00 26 4 13.33 17 0 0.00 7 0 0.00 RN7SL214P 0 genome.wustl.edu 37 15 78209076 78209077 + R INS - - C TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 15 78209076 78209077 - C INS RN7SL214P ENST00000487317 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RN7SL214P HGNC ENSG00000242066 tier1 41 0 0.00 44 7 13.73 8 0 0.00 0 0 0.00 TRIM46 0 genome.wustl.edu 37 1 155154488 155154488 + Silent SNP C C T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 1 155154488 155154488 C T SNP TRIM46 ENST00000334634 human ensembl 74_37 +1 known silent c.1749 p.G583 0.898 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 tier1 - - 108 0 0.00 106 44 29.33 8 0 0.00 6 1 14.29 BCR 0 genome.wustl.edu 37 22 23658274 23658275 + R INS - - TGC TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 22 23658274 23658275 - TGC INS BCR ENST00000436990 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors BCR HGNC ENSG00000186716 tier1 14 0 0.00 24 4 14.29 0 0 0.00 0 0 0.00 ENSG00000221279 0 genome.wustl.edu 37 7 110568408 110568413 + R DEL CACACA CACACA - TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 CACACA CACACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 7 110568408 110568413 CACACA - DEL ENSG00000221279 ENST00000408352 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.003:0.009:0.052:0.060:0.063 - - - no_errors AC005161.1 Clone_based_ensembl_gene ENSG00000221279 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000221388 0 genome.wustl.edu 37 2 213628318 213628325 + R DEL TGTGTGTG TGTGTGTG - TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 TGTGTGTG TGTGTGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 2 213628318 213628325 TGTGTGTG - DEL ENSG00000221388 ENST00000408461 human ensembl 74_37 -1 novel rna NULL NULL 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 - - - no_errors AC093865.1 Clone_based_ensembl_gene ENSG00000221388 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000221664 0 genome.wustl.edu 37 1 77857164 77857165 + R INS - - TA TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 1 77857164 77857165 - TA INS ENSG00000221664 ENST00000408737 human ensembl 74_37 -1 novel rna NULL NULL 0.989:0.989 - - - no_errors AC095030.1 Clone_based_ensembl_gene ENSG00000221664 tier1 45 0 0.00 88 10 10.20 0 0 0.00 0 0 0.00 ENSG00000251966 0 genome.wustl.edu 37 Y 10034012 10034012 + R DEL T T - TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b Y 10034012 10034012 T - DEL ENSG00000251966 ENST00000516157 human ensembl 74_37 +1 novel rna NULL NULL 0.001 - - - no_errors AC010970.1 Clone_based_ensembl_gene ENSG00000251966 tier1 18 0 0.00 7 3 30.00 3 0 0.00 0 0 0.00 ENSG00000259241 0 genome.wustl.edu 37 15 51987960 51987960 + R DEL A A - TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 15 51987960 51987960 A - DEL ENSG00000259241 ENST00000559918 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors RP11-313P18.2 Clone_based_vega_gene ENSG00000259241 tier1 17 0 0.00 23 3 11.54 0 0 0.00 0 0 0.00 FHOD3 0 genome.wustl.edu 37 18 34205614 34205614 + Missense_Mutation SNP G G T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 18 34205614 34205614 G T SNP FHOD3 ENST00000591635 human ensembl 74_37 +1 putative missense c.122 p.R41L 0.014 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 tier1 - - 39 0 0.00 39 4 9.30 4 0 0.00 4 0 0.00 NRXN1 0 genome.wustl.edu 37 2 50147836 50147845 + R DEL GTGTGTGTGT GTGTGTGTGT - TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 GTGTGTGTGT GTGTGTGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 2 50147836 50147845 GTGTGTGTGT - DEL NRXN1 ENST00000484192 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001:0.005:0.106:0.113:0.127:0.107:0.109:0.093:0.096 - - - no_errors NRXN1 HGNC ENSG00000179915 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 RYR1 0 genome.wustl.edu 37 19 38976304 38976304 + Missense_Mutation SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 19 38976304 38976304 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.5009 p.R1670H 0.999 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 9 0 0.00 15 7 31.82 3 0 0.00 1 0 0.00 SLX4 0 genome.wustl.edu 37 16 3646204 3646204 + Missense_Mutation SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 16 3646204 3646204 G A SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.1874 p.A625V 0.694 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 tier1 - - 18 0 0.00 17 11 39.29 1 0 0.00 0 0 0.00 TDRP 0 genome.wustl.edu 37 8 442474 442474 + Silent SNP G G A TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 8 442474 442474 G A SNP TDRP ENST00000427263 human ensembl 74_37 -1 known silent c.483 p.R161 0.353 NULL NULL - no_errors TDRP HGNC ENSG00000180190 tier1 - - 27 0 0.00 24 29 54.72 3 0 0.00 2 1 33.33 C4orf19 0 genome.wustl.edu 37 4 37592165 37592165 + Missense_Mutation SNP C C T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 4 37592165 37592165 C T SNP C4orf19 ENST00000284437 human ensembl 74_37 +1 known missense c.488 p.S163F 0.000 NULL NULL - no_errors C4orf19 HGNC ENSG00000154274 tier1 - - 18 0 0.00 35 7 16.28 67 0 0.00 79 2 2.47 CCDC18 0 genome.wustl.edu 37 1 93677634 93677659 + Frame_Shift_Del DEL TTCCCTTCTTTTCTTTTGTGCCAGAA TTCCCTTCTTTTCTTTTGTGCCAGAA - TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 TTCCCTTCTTTTCTTTTGTGCCAGAA TTCCCTTCTTTTCTTTTGTGCCAGAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d7641fa-0687-400b-bf80-67686179fd46 c55775b2-c64d-4761-bbad-9ce34418426b 1 93677634 93677659 TTCCCTTCTTTTCTTTTGTGCCAGAA - DEL CCDC18 ENST00000557479 human ensembl 74_37 +1 known frame_shift_del c.1713_1690 p.R578fs 0.146:0.127:0.051:0.016:0.000:0.000:0.000:0.000:0.003:0.296:0.887:0.894:0.918:0.986:0.995:0.992:0.966:0.782:0.770:0.056:0.047:0.067:0.982:1.000:1.000:1.000 NULL superfamily_Prefoldin,superfamily_tR-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 tier1 68 0 0.00 52 3 5.45 68 0 0.00 52 3 5.45