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 ZFAND1 0 genome.wustl.edu 37 8 82626245 82626245 + Nonsense_Mutation SNP G G A TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 8 82626245 82626245 G A SNP ZFAND1 ENST00000220669 human ensembl 74_37 -1 known nonsense c.388 p.R130* 1.000 NULL pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1 - no_errors ZFAND1 HGNC ENSG00000104231 tier1 - - 58 0 0.00 30 21 41.18 74 0 0.00 70 29 29.29 ZNF77 0 genome.wustl.edu 37 19 2933833 2933833 + Missense_Mutation SNP G G A TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 19 2933833 2933833 G A SNP ZNF77 ENST00000314531 human ensembl 74_37 -1 known missense c.1292 p.T431I 0.988 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 ZNF77 HGNC ENSG00000175691 tier1 - - 63 0 0.00 36 13 26.53 66 1 1.49 57 28 32.94 SLCO4C1 0 genome.wustl.edu 37 5 101631937 101631937 + Missense_Mutation SNP C C A TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 5 101631937 101631937 C A SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known missense c.30 p.L10F 1.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 tier1 - - 70 0 0.00 39 23 37.10 58 0 0.00 48 29 37.66 PRG4 0 genome.wustl.edu 37 1 186277602 186277602 + Silent SNP C C T TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 1 186277602 186277602 C T SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known silent c.2751 p.D917 0.002 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 tier1 - - 54 0 0.00 26 20 43.48 81 1 1.22 59 69 53.91 OR2V2 0 genome.wustl.edu 37 5 180582465 180582465 + Missense_Mutation SNP G G T TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 5 180582465 180582465 G T SNP OR2V2 ENST00000328275 human ensembl 74_37 +1 known missense c.523 p.V175L 0.071 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2V2 HGNC ENSG00000182613 tier1 rs147476494 GMAF=0.0005 141 0 0.00 71 30 29.70 118 0 0.00 64 32 33.33 RYR1 0 genome.wustl.edu 37 19 38954158 38954158 + Silent SNP C C T TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 19 38954158 38954158 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.2673 p.T891 0.999 pfam_Ryanodine_rcpt,prints_Ryan_recept 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 - - 87 0 0.00 47 20 29.85 7 0 0.00 10 3 23.08 MUC2 0 genome.wustl.edu 37 11 1085815 1085815 + Silent SNP G G T TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 11 1085815 1085815 G T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known silent c.2736 p.T912 0.025 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,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 MUC2 HGNC ENSG00000198788 tier1 - - 53 0 0.00 32 20 38.46 27 0 0.00 21 10 32.26 UNC13C 0 genome.wustl.edu 37 15 54307904 54307904 + Nonsense_Mutation SNP T T G TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 15 54307904 54307904 T G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known nonsense c.2804 p.L935* 0.900 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 59 0 0.00 34 6 15.00 88 0 0.00 64 28 30.43 CES1 0 genome.wustl.edu 37 16 55844440 55844440 + Missense_Mutation SNP C C T TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 16 55844440 55844440 C T SNP CES1 ENST00000360526 human ensembl 74_37 -1 known missense c.1307 p.R436Q 0.044 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 tier1 rs145088728 - 238 0 0.00 134 42 23.86 111 0 0.00 80 29 26.61 DOCK2 0 genome.wustl.edu 37 5 169435513 169435513 + Missense_Mutation SNP T T A TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 5 169435513 169435513 T A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.3085 p.Y1029N 1.000 superfamily_ARM-type_fold,superfamily_Ferritin-like_SF pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 64 0 0.00 45 14 23.73 50 0 0.00 47 25 34.72 CCDC60 0 genome.wustl.edu 37 12 119968845 119968845 + Missense_Mutation SNP C C A TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 12 119968845 119968845 C A SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known missense c.1528 p.P510T 0.999 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 tier1 - - 76 0 0.00 49 160 76.19 99 0 0.00 85 331 79.57 ACSM2A 0 genome.wustl.edu 37 16 20482862 20482862 + Missense_Mutation SNP A A G TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 16 20482862 20482862 A G SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known missense c.745 p.T249A 0.138 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 tier1 - - 120 0 0.00 85 11 11.46 44 0 0.00 42 11 20.75 ABCA7 0 genome.wustl.edu 37 19 1063802 1063802 + Missense_Mutation SNP T T A TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 19 1063802 1063802 T A SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known missense c.5891 p.L1964H 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 tier1 - - 147 0 0.00 101 28 21.71 19 0 0.00 19 4 17.39 KLK13 0 genome.wustl.edu 37 19 51563252 51563252 + Missense_Mutation SNP C C T TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 19 51563252 51563252 C T SNP KLK13 ENST00000595793 human ensembl 74_37 -1 known missense c.338 p.R113Q 0.925 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK13 HGNC ENSG00000167759 tier1 - - 50 0 0.00 22 5 18.52 53 0 0.00 47 8 14.55 THSD7A 0 genome.wustl.edu 37 7 11457208 11457208 + Missense_Mutation SNP C C T TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 7 11457208 11457208 C T SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.3406 p.G1136S 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 tier1 - - 31 0 0.00 28 6 17.65 62 0 0.00 29 10 25.64 LOC730811 0 genome.wustl.edu 37 2 2328430 2328430 + R SNP C C T TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 2 2328430 2328430 C T SNP LOC730811 ENST00000422175 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors AC009232.2 Clone_based_vega_gene ENSG00000225619 tier1 - - 60 0 0.00 33 24 42.11 19 0 0.00 14 5 26.32 MAGI3 0 genome.wustl.edu 37 1 114184712 114184712 + Missense_Mutation SNP A A T TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 1 114184712 114184712 A T SNP MAGI3 ENST00000369611 human ensembl 74_37 +1 known missense c.1540 p.I514F 0.997 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 MAGI3 HGNC ENSG00000081026 tier1 - - 151 0 0.00 92 32 25.81 78 0 0.00 42 26 38.24 KLK3 0 genome.wustl.edu 37 19 51361292 51361292 + Missense_Mutation SNP G G A TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 19 51361292 51361292 G A SNP KLK3 ENST00000326003 human ensembl 74_37 +1 known missense c.214 p.V72M 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK3 HGNC ENSG00000142515 tier1 rs148892721 - 50 0 0.00 20 11 35.48 37 0 0.00 35 9 20.45 CTSL 0 genome.wustl.edu 37 9 90343553 90343553 + Silent SNP G G A TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 9 90343553 90343553 G A SNP CTSL ENST00000340342 human ensembl 74_37 +1 known silent c.450 p.Q150 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSL HGNC ENSG00000135047 tier1 - - 109 0 0.00 59 44 42.72 59 0 0.00 39 12 23.53 CDA 0 genome.wustl.edu 37 1 20915751 20915751 + Silent SNP C C T TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 1 20915751 20915751 C T SNP CDA ENST00000375071 human ensembl 74_37 +1 known silent c.129 p.L43 1.000 pfam_CMP_dCMP_Zn-bd,pfam_Cyd/dCyd_deaminase_Zn-bd,superfamily_Cytidine_deaminase-like,tigrfam_Cyt_deam_tetra pfam_CMP_dCMP_Zn-bd,pfam_Cyd/dCyd_deaminase_Zn-bd,superfamily_Cytidine_deaminase-like,tigrfam_Cyt_deam_tetra - no_errors CDA HGNC ENSG00000158825 tier1 rs149177918 - 61 0 0.00 21 17 44.74 43 0 0.00 17 23 57.50 TMEM168 0 genome.wustl.edu 37 7 112415372 112415372 + Missense_Mutation SNP G G A TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 7 112415372 112415372 G A SNP TMEM168 ENST00000312814 human ensembl 74_37 -1 known missense c.1130 p.P377L 1.000 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 tier1 - - 43 0 0.00 17 7 29.17 54 0 0.00 60 16 20.78 OR5M10 0 genome.wustl.edu 37 11 56344717 56344717 + Missense_Mutation SNP G G C TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 11 56344717 56344717 G C SNP OR5M10 ENST00000526812 human ensembl 74_37 -1 known missense c.481 p.L161V 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 OR5M10 HGNC ENSG00000254834 tier1 - - 53 0 0.00 42 4 8.70 79 0 0.00 56 7 11.11 ATRX 0 genome.wustl.edu 37 X 76875866 76875866 + Missense_Mutation SNP C C G TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 X 76875866 76875866 C G SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.5269 p.E1757Q 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd 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 - - 153 0 0.00 58 27 31.40 45 0 0.00 58 28 32.56 TRPC1 0 genome.wustl.edu 37 3 142511714 142511714 + Missense_Mutation SNP C C G TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 3 142511714 142511714 C G SNP TRPC1 ENST00000476941 human ensembl 74_37 +1 known missense c.1486 p.L496V 0.996 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 tier1 - - 107 0 0.00 74 31 29.52 60 0 0.00 42 14 25.00 WDFY3 0 genome.wustl.edu 37 4 85742335 85742335 + Missense_Mutation SNP T T C TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 4 85742335 85742335 T C SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.1493 p.D498G 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 tier1 - - 57 0 0.00 31 13 29.55 100 0 0.00 78 24 23.53 CCR1 0 genome.wustl.edu 37 3 46245242 46245242 + Missense_Mutation SNP G G C TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 3 46245242 46245242 G C SNP CCR1 ENST00000296140 human ensembl 74_37 -1 known missense c.563 p.P188R 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_Chemokine_CCR5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_NPY_rcpt,prints_ATII_rcpt - no_errors CCR1 HGNC ENSG00000163823 tier1 - - 53 0 0.00 33 8 19.51 89 0 0.00 67 28 29.47 ZKSCAN8 0 genome.wustl.edu 37 6 28121130 28121130 + Missense_Mutation SNP G G T TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 6 28121130 28121130 G T SNP ZKSCAN8 ENST00000330236 human ensembl 74_37 +1 known missense c.1072 p.A358S 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN8 HGNC ENSG00000198315 tier1 - - 64 0 0.00 35 10 22.22 119 0 0.00 91 37 28.68 LRRTM4 0 genome.wustl.edu 37 2 77745759 77745759 + Silent SNP G G A TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 2 77745759 77745759 G A SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known silent c.1239 p.G413 0.977 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 tier1 - - 52 0 0.00 45 12 21.05 101 1 0.98 65 26 28.57 RORC 0 genome.wustl.edu 37 1 151785408 151785408 + R SNP C C T TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 1 151785408 151785408 C T SNP RORC ENST00000480719 human ensembl 74_37 -1 known rna NULL NULL 0.979 - - - no_errors RORC HGNC ENSG00000143365 tier1 - - 45 0 0.00 28 18 39.13 62 0 0.00 65 20 23.53 CNR1 0 genome.wustl.edu 37 6 88854824 88854824 + Missense_Mutation SNP G G C TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 6 88854824 88854824 G C SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known missense c.170 p.P57R 1.000 pirsf_Canbinoid_rcpt_1,prints_Canbinoid_rcpt_1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 tier1 - - 114 0 0.00 46 25 35.21 83 0 0.00 56 29 33.72 ROCK1 0 genome.wustl.edu 37 18 18566975 18566975 + Missense_Mutation SNP T T C TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 18 18566975 18566975 T C SNP ROCK1 ENST00000399799 human ensembl 74_37 -1 known missense c.2240 p.D747G 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 tier1 - - 86 0 0.00 39 17 30.36 78 0 0.00 68 26 27.66 SNORD116-2 0 genome.wustl.edu 37 15 25299398 25299398 + R SNP G G C TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 15 25299398 25299398 G C SNP SNORD116-2 ENST00000384274 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD116-2 HGNC ENSG00000207001 tier1 - - 142 0 0.00 67 18 21.18 24 0 0.00 23 11 32.35 SH3RF2 0 genome.wustl.edu 37 5 145428732 145428732 + Missense_Mutation SNP G G T TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 5 145428732 145428732 G T SNP SH3RF2 ENST00000359120 human ensembl 74_37 +1 known missense c.1246 p.G416C 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 tier1 - - 73 0 0.00 46 28 37.84 35 0 0.00 31 7 18.42 HCK 0 genome.wustl.edu 37 20 30662496 30662496 + Missense_Mutation SNP G G A TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 20 30662496 30662496 G A SNP HCK ENST00000375852 human ensembl 74_37 +1 known missense c.400 p.A134T 1.000 pfam_SH3_2,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC ENSG00000101336 tier1 - - 77 0 0.00 45 15 25.00 83 0 0.00 42 22 34.38 CNTD2 0 genome.wustl.edu 37 19 40729532 40729532 + Silent SNP G G A TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 19 40729532 40729532 G A SNP CNTD2 ENST00000221818 human ensembl 74_37 -1 known silent c.441 p.N147 0.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like - no_errors CNTD2 HGNC ENSG00000105219 tier1 - - 49 0 0.00 14 11 44.00 97 0 0.00 43 24 35.82 ASPN 0 genome.wustl.edu 37 9 95236911 95236911 + Missense_Mutation SNP T T G TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 9 95236911 95236911 T G SNP ASPN ENST00000375544 human ensembl 74_37 -1 known missense c.269 p.D90A 1.000 pfam_LRR-contain_N,smart_LRR-contain_N,pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors ASPN HGNC ENSG00000106819 tier1 - - 36 0 0.00 23 13 36.11 77 0 0.00 53 22 29.33 PTH2R 0 genome.wustl.edu 37 2 209302606 209302606 + Silent SNP G G A TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 2 209302606 209302606 G A SNP PTH2R ENST00000272847 human ensembl 74_37 +1 known silent c.411 p.K137 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors PTH2R HGNC ENSG00000144407 tier1 - - 40 0 0.00 12 7 36.84 62 0 0.00 33 12 26.67 SUSD1 0 genome.wustl.edu 37 9 114919796 114919797 + Frame_Shift_Ins INS - - GAGG TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 - - - GAGG - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 9 114919796 114919797 - GAGG INS SUSD1 ENST00000374264 human ensembl 74_37 -1 known frame_shift_ins c.201_200 p.R68fs 1.000:1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD1 HGNC ENSG00000106868 tier1 80 0 0.00 42 13 23.64 97 0 0.00 84 23 21.50 AGTR1 0 genome.wustl.edu 37 3 148459421 148459422 + Frame_Shift_Del DEL AT AT - TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 AT AT AT - AT AT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 3 148459421 148459422 AT - DEL AGTR1 ENST00000349243 human ensembl 74_37 +1 known frame_shift_del c.599_600 p.I201fs 1.000:0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_AT1_rcpt,prints_ATII_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Formyl_pep_rcpt,prints_Brdyknn_rcpt - no_errors AGTR1 HGNC ENSG00000144891 tier1 24 0 0.00 27 7 20.59 102 0 0.00 83 21 20.19 GATAD2A 0 genome.wustl.edu 37 19 19576217 19576218 + In_Frame_Ins INS - - GAC TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 - - - GAC - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 19 19576217 19576218 - GAC INS GATAD2A ENST00000358713 human ensembl 74_37 +1 known in_frame_ins c.63_64 p.23in_frame_insD 0.001:0.346 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2A HGNC ENSG00000167491 tier1 60 0 0.00 22 6 21.43 71 0 0.00 66 23 25.84 PLGRKT 0 genome.wustl.edu 37 9 5361821 5361822 + In_Frame_Ins INS - - ACC TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 - - - ACC - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 9 5361821 5361822 - ACC INS PLGRKT ENST00000223864 human ensembl 74_37 -1 known in_frame_ins c.149_148 p.50in_frame_insW 1.000:1.000 pfam_DUF2368 pfam_DUF2368 - no_errors PLGRKT HGNC ENSG00000107020 tier1 75 0 0.00 47 10 17.54 72 0 0.00 56 10 15.15 ENSG00000255622 0 genome.wustl.edu 37 5 140536810 140536813 + Frame_Shift_Del DEL AGAG AGAG - TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 AGAG AGAG AGAG - AGAG AGAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 5 140536810 140536813 AGAG - DEL ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known frame_shift_del c.1234_1237 p.E413fs 1.000:1.000:1.000:1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB17 Uniprot_gn ENSG00000255622 tier1 91 0 0.00 54 18 25.00 52 0 0.00 50 18 26.47 APOB 0 genome.wustl.edu 37 2 21234572 21234572 + Missense_Mutation SNP C C A TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 2 21234572 21234572 C A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.5168 p.S1723I 1.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 90 0 0.00 59 6 9.23 67 0 0.00 53 4 7.02 SCN11A 0 genome.wustl.edu 37 3 38950624 38950624 + Missense_Mutation SNP G G A TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 3 38950624 38950624 G A SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.1163 p.S388F 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 - - 62 0 0.00 53 7 11.67 114 0 0.00 82 9 9.89 FCGBP 0 genome.wustl.edu 37 19 40363158 40363158 + Missense_Mutation SNP A A G TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 19 40363158 40363158 A G SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.14912 p.L4971P 0.519 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 - - 97 0 0.00 77 11 12.50 39 0 0.00 44 4 8.33 NUAK1 0 genome.wustl.edu 37 12 106460789 106460789 + Missense_Mutation SNP G G A TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 12 106460789 106460789 G A SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known missense c.1777 p.P593S 0.910 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK1 HGNC ENSG00000074590 tier1 - - 46 0 0.00 112 10 8.20 26 0 0.00 83 7 7.78 TRAPPC9 0 genome.wustl.edu 37 8 140998965 140998965 + Missense_Mutation SNP C C G TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 8 140998965 140998965 C G SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known missense c.3073 p.A1025P 0.997 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 tier1 - - 78 0 0.00 51 6 10.53 7 0 0.00 6 0 0.00 ACRC 0 genome.wustl.edu 37 X 70823836 70823836 + Missense_Mutation SNP G G T TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 X 70823836 70823836 G T SNP ACRC ENST00000373695 human ensembl 74_37 +1 known missense c.709 p.D237Y 0.014 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 tier1 - - 95 0 0.00 53 28 34.57 0 0 0.00 0 0 0.00 ENSG00000221734 0 genome.wustl.edu 37 9 117554505 117554510 + R DEL ACACAC ACACAC - TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 ACACAC ACACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 9 117554505 117554510 ACACAC - DEL ENSG00000221734 ENST00000408807 human ensembl 74_37 +1 novel rna NULL NULL 0.007:0.007:0.010:0.012:0.014:0.015 - - - no_errors AL390240.1 Clone_based_ensembl_gene ENSG00000221734 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000261200 0 genome.wustl.edu 37 16 33347801 33347817 + R DEL GGCCAGGGCAAAGGTAT GGCCAGGGCAAAGGTAT - TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 GGCCAGGGCAAAGGTAT GGCCAGGGCAAAGGTAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 16 33347801 33347817 GGCCAGGGCAAAGGTAT - DEL ENSG00000261200 ENST00000568752 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:0.994:0.992:0.993:0.994:0.989:0.989:0.979:0.981:0.984:0.980:0.974:0.965:0.953:0.941:0.945 - - - no_errors RP11-989E6.10 Clone_based_vega_gene ENSG00000261200 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 MIR3156-3 0 genome.wustl.edu 37 21 14778717 14778717 + R SNP G G T TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 21 14778717 14778717 G T SNP MIR3156-3 ENST00000580304 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors MIR3156-3 HGNC ENSG00000266211 tier1 - - 42 0 0.00 9 10 52.63 1 0 0.00 1 1 50.00 MNX1-AS1 0 genome.wustl.edu 37 7 156803795 156803795 + R SNP G G T TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 7 156803795 156803795 G T SNP MNX1-AS1 ENST00000480284 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MNX1-AS1 HGNC ENSG00000243479 tier1 - - 42 0 0.00 42 6 12.50 0 0 0.00 3 0 0.00 NUMBL 0 genome.wustl.edu 37 19 41173893 41173898 + In_Frame_Del DEL TGCTGT TGCTGT - TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 TGCTGT TGCTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 19 41173893 41173898 TGCTGT - DEL NUMBL ENST00000252891 human ensembl 74_37 -1 known in_frame_del c.1310_1305 p.QQ439in_frame_del 1.000:1.000:1.000:1.000:1.000:0.998 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMBL HGNC ENSG00000105245 tier1 0 0 0.00 0 1 100.00 0 0 0.00 0 1 100.00 KMT2D 0 genome.wustl.edu 37 12 49425667 49425667 + Missense_Mutation SNP A A G TCGA-PC-A5DN-01A-12D-A27P-09 TCGA-PC-A5DN-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 60581c5a-e89b-4e0e-bb80-20a3b14f4638 680014f0-e224-4d25-9929-02de0f4b2f44 12 49425667 49425667 A G SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.12821 p.L4274P 0.378 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_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 127 0 0.00 76 22 22.45 13 0 0.00 21 2 8.70