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 OR8B12 0 genome.wustl.edu 37 11 124413017 124413017 + Silent SNP A A G TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 11 124413017 124413017 A G SNP OR8B12 ENST00000306842 human ensembl 74_37 -1 known silent c.534 p.C178 1.000 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B12 HGNC ENSG00000170953 tier1 - - 33 0 0.00 24 18 42.86 37 0 0.00 48 20 29.41 RB1 0 genome.wustl.edu 37 13 48955394 48955394 + Nonsense_Mutation SNP C C T TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 13 48955394 48955394 C T SNP RB1 ENST00000267163 human ensembl 74_37 +1 known nonsense c.1510 p.Q504* 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 - - 35 0 0.00 2 18 90.00 36 0 0.00 10 25 71.43 HS3ST5 0 genome.wustl.edu 37 6 114379226 114379226 + Missense_Mutation SNP T T G TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 6 114379226 114379226 T G SNP HS3ST5 ENST00000312719 human ensembl 74_37 -1 known missense c.236 p.E79A 1.000 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST5 HGNC ENSG00000249853 tier1 - - 21 0 0.00 23 14 37.84 50 0 0.00 34 15 30.61 PCDHA4 0 genome.wustl.edu 37 5 140187742 140187742 + Missense_Mutation SNP G G C TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 5 140187742 140187742 G C SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.970 p.D324H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 tier1 - - 137 0 0.00 31 29 48.33 159 0 0.00 76 37 32.74 HS3ST5 0 genome.wustl.edu 37 6 114379227 114379227 + Missense_Mutation SNP C C T TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 6 114379227 114379227 C T SNP HS3ST5 ENST00000312719 human ensembl 74_37 -1 known missense c.235 p.E79K 1.000 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST5 HGNC ENSG00000249853 tier1 - - 21 0 0.00 21 15 41.67 50 0 0.00 32 14 30.43 WIPF1 0 genome.wustl.edu 37 2 175439998 175439998 + Missense_Mutation SNP G G A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 2 175439998 175439998 G A SNP WIPF1 ENST00000272746 human ensembl 74_37 -1 known missense c.292 p.P98S 0.994 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ENSG00000115935 tier1 - - 55 0 0.00 20 19 48.72 53 0 0.00 29 20 40.82 SLCO1C1 0 genome.wustl.edu 37 12 20905320 20905320 + Missense_Mutation SNP A A C TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 12 20905320 20905320 A C SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.2100 p.E700D 1.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 tier1 - - 80 0 0.00 29 26 47.27 40 0 0.00 48 31 39.24 TP53 0 genome.wustl.edu 37 17 7577540 7577540 + Silent SNP G G A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 17 7577540 7577540 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known silent c.741 p.N247 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 44 0 0.00 7 14 66.67 66 0 0.00 15 30 66.67 RP1 0 genome.wustl.edu 37 8 55540104 55540104 + Missense_Mutation SNP C C T TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 8 55540104 55540104 C T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.3662 p.P1221L 0.001 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 16 0 0.00 16 8 33.33 86 0 0.00 58 39 40.21 TFRC 0 genome.wustl.edu 37 3 195785483 195785483 + Silent SNP C C A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 3 195785483 195785483 C A SNP TFRC ENST00000360110 human ensembl 74_37 -1 known silent c.1557 p.G519 0.000 pfam_Peptidase_M28 pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFRC HGNC ENSG00000072274 tier1 - - 83 0 0.00 53 34 39.08 92 0 0.00 93 63 40.38 KP6 0 genome.wustl.edu 37 1 32625019 32625019 + Silent SNP C C T TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 1 32625019 32625019 C T SNP KP6 ENST00000545542 human ensembl 74_37 +1 known silent c.460 p.L154 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KP6 HGNC ENSG00000025800 tier1 - - 41 0 0.00 37 14 27.45 70 0 0.00 58 44 43.14 JAKMIP1 0 genome.wustl.edu 37 4 6066655 6066655 + Silent SNP T T C TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 4 6066655 6066655 T C SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known silent c.1383 p.T461 0.107 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 tier1 - - 91 0 0.00 48 25 34.25 114 0 0.00 73 47 38.84 CENPE 0 genome.wustl.edu 37 4 104084678 104084678 + Silent SNP C C T TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 4 104084678 104084678 C T SNP CENPE ENST00000265148 human ensembl 74_37 -1 known silent c.1680 p.K560 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 tier1 - - 43 0 0.00 42 13 23.64 28 0 0.00 32 30 48.39 LTBP2 0 genome.wustl.edu 37 14 74995277 74995277 + Silent SNP C C T TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 14 74995277 74995277 C T SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known silent c.2277 p.R759 0.995 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 tier1 - - 47 0 0.00 20 25 55.56 23 0 0.00 15 4 21.05 PALMD 0 genome.wustl.edu 37 1 100154947 100154947 + Silent SNP G G A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 1 100154947 100154947 G A SNP PALMD ENST00000263174 human ensembl 74_37 +1 known silent c.1131 p.G377 0.074 NULL pfam_Paralemmin - no_errors PALMD HGNC ENSG00000099260 tier1 - - 22 0 0.00 26 15 36.59 48 0 0.00 75 53 41.41 EPS15L1 0 genome.wustl.edu 37 19 16539564 16539564 + Missense_Mutation SNP G G C TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 19 16539564 16539564 G C SNP EPS15L1 ENST00000455140 human ensembl 74_37 -1 known missense c.507 p.D169E 0.999 smart_EPS15_homology,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ENSG00000127527 tier1 - - 54 0 0.00 20 14 41.18 76 1 1.30 68 36 34.62 LRP12 0 genome.wustl.edu 37 8 105510059 105510059 + Missense_Mutation SNP C C T TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 8 105510059 105510059 C T SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.664 p.G222R 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 31 0 0.00 19 18 48.65 89 0 0.00 73 57 43.51 LRTM2 0 genome.wustl.edu 37 12 1943471 1943471 + Missense_Mutation SNP G G A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 12 1943471 1943471 G A SNP LRTM2 ENST00000299194 human ensembl 74_37 +1 known missense c.697 p.E233K 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM2 HGNC ENSG00000166159 tier1 - - 60 0 0.00 24 19 44.19 60 0 0.00 35 24 40.68 DIS3L2 0 genome.wustl.edu 37 2 233127950 233127950 + Missense_Mutation SNP C C T TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 2 233127950 233127950 C T SNP DIS3L2 ENST00000325385 human ensembl 74_37 +1 known missense c.1459 p.R487C 0.946 NULL NULL - no_errors DIS3L2 HGNC ENSG00000144535 tier1 - - 34 0 0.00 24 17 41.46 57 0 0.00 43 12 21.82 CNTP5 0 genome.wustl.edu 37 2 124999804 124999804 + Missense_Mutation SNP C C A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 2 124999804 124999804 C A SNP CNTP5 ENST00000431078 human ensembl 74_37 +1 known missense c.215 p.S72Y 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTP5 HGNC ENSG00000155052 tier1 - - 31 0 0.00 28 31 52.54 39 0 0.00 58 25 30.12 PRPF40B 0 genome.wustl.edu 37 12 50036074 50036074 + Silent SNP G G A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 12 50036074 50036074 G A SNP PRPF40B ENST00000548825 human ensembl 74_37 +1 known silent c.1941 p.R647 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors PRPF40B HGNC ENSG00000110844 tier1 rs148666758 - 9 0 0.00 9 4 30.77 29 0 0.00 23 9 28.12 PRPF40B 0 genome.wustl.edu 37 12 50036073 50036073 + Missense_Mutation SNP G G A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 12 50036073 50036073 G A SNP PRPF40B ENST00000548825 human ensembl 74_37 +1 known missense c.1940 p.R647K 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors PRPF40B HGNC ENSG00000110844 tier1 - - 9 0 0.00 9 4 30.77 29 0 0.00 24 9 27.27 KIAA1551 0 genome.wustl.edu 37 12 32134974 32134974 + Missense_Mutation SNP A A C TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 12 32134974 32134974 A C SNP KIAA1551 ENST00000312561 human ensembl 74_37 +1 known missense c.1085 p.Q362P 0.000 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 tier1 - - 51 0 0.00 44 22 33.33 70 1 1.41 71 39 35.14 C22orf34 0 genome.wustl.edu 37 22 49834816 49834816 + Missense_Mutation SNP C C T TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 22 49834816 49834816 C T SNP C22orf34 ENST00000414287 human ensembl 74_37 -1 known missense c.101 p.R34K 0.000 NULL NULL - no_errors C22orf34 HGNC ENSG00000188511 tier1 - - 47 0 0.00 18 15 45.45 72 0 0.00 24 13 35.14 ACAN 0 genome.wustl.edu 37 15 89398253 89398253 + Missense_Mutation SNP C C T TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 15 89398253 89398253 C T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.2437 p.P813S 0.039 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 tier1 - - 55 0 0.00 47 32 40.51 87 0 0.00 55 36 39.56 LRP12 0 genome.wustl.edu 37 8 105510058 105510058 + Missense_Mutation SNP C C T TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 8 105510058 105510058 C T SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.665 p.G222E 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 32 0 0.00 19 17 47.22 87 0 0.00 74 56 43.08 KIAA1549L 0 genome.wustl.edu 37 11 33628349 33628349 + Missense_Mutation SNP C C T TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 11 33628349 33628349 C T SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.4169 p.S1390L 0.868 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 tier1 - - 35 0 0.00 41 7 14.58 32 0 0.00 34 6 15.00 PLXNB2 0 genome.wustl.edu 37 22 50717058 50717058 + Silent SNP C C T TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 22 50717058 50717058 C T SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known silent c.4614 p.R1538 0.909 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 tier1 - - 66 0 0.00 27 21 43.75 65 0 0.00 31 18 36.73 ANGPT4 0 genome.wustl.edu 37 20 853735 853735 + Silent SNP T T A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 20 853735 853735 T A SNP ANGPT4 ENST00000381922 human ensembl 74_37 -1 known silent c.1380 p.S460 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT4 HGNC ENSG00000101280 tier1 - - 27 0 0.00 18 11 37.93 48 0 0.00 27 27 50.00 TG 0 genome.wustl.edu 37 8 133931621 133931621 + Missense_Mutation SNP T T G TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 8 133931621 133931621 T G SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.4379 p.V1460G 0.945 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 34 0 0.00 27 22 44.90 58 0 0.00 30 29 49.15 DOCK7 0 genome.wustl.edu 37 1 63113413 63113413 + Missense_Mutation SNP A A T TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 1 63113413 63113413 A T SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known missense c.767 p.I256K 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 tier1 - - 114 0 0.00 80 43 34.96 61 0 0.00 79 32 28.83 PIWIL2 0 genome.wustl.edu 37 8 22145080 22145080 + Silent SNP G G A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 8 22145080 22145080 G A SNP PIWIL2 ENST00000356766 human ensembl 74_37 +1 known silent c.783 p.L261 1.000 superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 tier1 - - 60 0 0.00 32 19 37.25 107 0 0.00 51 39 43.33 ZNF552 0 genome.wustl.edu 37 19 58325967 58325967 + Missense_Mutation SNP G G A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 19 58325967 58325967 G A SNP ZNF552 ENST00000596248 human ensembl 74_37 -1 known missense c.145 p.H49Y 0.000 NULL NULL - no_errors ZNF552 HGNC ENSG00000178935 tier1 - - 61 0 0.00 19 6 24.00 24 0 0.00 10 10 50.00 DIS3L2 0 genome.wustl.edu 37 2 233127949 233127949 + Missense_Mutation SNP C C G TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 2 233127949 233127949 C G SNP DIS3L2 ENST00000325385 human ensembl 74_37 +1 known missense c.1458 p.I486M 0.957 NULL NULL - no_errors DIS3L2 HGNC ENSG00000144535 tier1 - - 33 0 0.00 23 17 42.50 57 0 0.00 43 12 21.82 PLCE1 0 genome.wustl.edu 37 10 96014797 96014797 + Missense_Mutation SNP G G A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 10 96014797 96014797 G A SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.3545 p.S1182N 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 tier1 - - 19 0 0.00 6 7 53.85 69 0 0.00 13 45 77.59 PCDHA4 0 genome.wustl.edu 37 5 140187703 140187703 + Missense_Mutation SNP G G A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 5 140187703 140187703 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.931 p.E311K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 tier1 - - 133 0 0.00 31 30 49.18 151 0 0.00 84 30 26.32 PCDHA4 0 genome.wustl.edu 37 5 140187574 140187574 + Missense_Mutation SNP G G C TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 5 140187574 140187574 G C SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.802 p.D268H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 tier1 - - 74 0 0.00 23 21 47.73 117 0 0.00 62 31 33.33 THAP4 0 genome.wustl.edu 37 2 242573427 242573427 + Missense_Mutation SNP G G T TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 2 242573427 242573427 G T SNP THAP4 ENST00000407315 human ensembl 74_37 -1 known missense c.145 p.P49T 0.994 pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP4 HGNC ENSG00000176946 tier1 - - 122 0 0.00 32 23 41.82 158 0 0.00 78 43 35.54 OTOF 0 genome.wustl.edu 37 2 26707374 26707374 + Missense_Mutation SNP C C G TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 2 26707374 26707374 C G SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.1173 p.K391N 1.000 pfam_FerIin-domain pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 tier1 - - 54 0 0.00 4 24 85.71 72 0 0.00 29 33 53.23 KRTAP13-1 0 genome.wustl.edu 37 21 31768501 31768501 + Missense_Mutation SNP A A C TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 21 31768501 31768501 A C SNP KRTAP13-1 ENST00000355459 human ensembl 74_37 +1 known missense c.97 p.N33H 0.004 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-1 HGNC ENSG00000198390 tier1 - - 27 0 0.00 23 16 41.03 24 0 0.00 24 12 33.33 LIPA 0 genome.wustl.edu 37 10 90988006 90988006 + Missense_Mutation SNP G G A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 10 90988006 90988006 G A SNP LIPA ENST00000336233 human ensembl 74_37 -1 known missense c.379 p.R127W 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase - no_errors LIPA HGNC ENSG00000107798 tier1 rs140686447 - 48 0 0.00 7 26 78.79 54 0 0.00 22 35 61.40 TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.742 p.R248W 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs121912651 - 44 0 0.00 5 16 76.19 68 0 0.00 14 31 67.39 XIST 0 genome.wustl.edu 37 X 73071846 73071846 + R DEL A A - TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 X 73071846 73071846 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 tier1 78 0 0.00 54 7 11.48 20 0 0.00 24 3 11.11 EFCAB6 0 genome.wustl.edu 37 22 43972249 43972249 + Frame_Shift_Del DEL T T - TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 22 43972249 43972249 T - DEL EFCAB6 ENST00000262726 human ensembl 74_37 -1 known frame_shift_del c.3348 p.K1116fs 0.144 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 tier1 66 0 0.00 59 25 29.76 53 0 0.00 58 30 34.09 MAGEE2 0 genome.wustl.edu 37 X 75004715 75004715 + Missense_Mutation SNP T T G TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 X 75004715 75004715 T G SNP MAGEE2 ENST00000373359 human ensembl 74_37 -1 known missense c.172 p.T58P 0.002 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 tier1 - - 13 0 0.00 6 6 50.00 16 0 0.00 2 21 91.30 MYH8 0 genome.wustl.edu 37 17 10303854 10303854 + Silent SNP C C T TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 17 10303854 10303854 C T SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known silent c.3588 p.R1196 0.976 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SRE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 tier1 - - 40 0 0.00 4 9 64.29 23 0 0.00 1 5 83.33 PCDHA4 0 genome.wustl.edu 37 5 140186934 140186934 + Silent SNP G G A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 5 140186934 140186934 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known silent c.162 p.L54 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 tier1 - - 119 1 0.83 49 29 37.18 16 0 0.00 2 3 60.00 PDLIM2 0 genome.wustl.edu 37 8 22451416 22451416 + Missense_Mutation SNP G G A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 8 22451416 22451416 G A SNP PDLIM2 ENST00000308354 human ensembl 74_37 +1 known missense c.1802 p.R601Q 0.192 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM2 HGNC ENSG00000120913 tier1 rs150050587 GMAF=0.0005 55 0 0.00 22 7 24.14 23 0 0.00 6 2 25.00 TCEA2 0 genome.wustl.edu 37 20 62699435 62699435 + Missense_Mutation SNP G G A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 20 62699435 62699435 G A SNP TCEA2 ENST00000343484 human ensembl 74_37 +1 known missense c.277 p.G93S 0.725 superfamily_TFIIS_N,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_TFIIS_N,pfam_Znf_TFIIS,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA2 HGNC ENSG00000171703 tier1 - - 48 0 0.00 15 8 34.78 11 0 0.00 6 6 50.00 TCEA2 0 genome.wustl.edu 37 20 62699436 62699436 + Missense_Mutation SNP G G A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 20 62699436 62699436 G A SNP TCEA2 ENST00000343484 human ensembl 74_37 +1 known missense c.278 p.G93D 0.625 superfamily_TFIIS_N,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_TFIIS_N,pfam_Znf_TFIIS,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA2 HGNC ENSG00000171703 tier1 - - 47 0 0.00 14 9 39.13 11 0 0.00 6 6 50.00 HRNR 0 genome.wustl.edu 37 1 152192912 152192912 + Missense_Mutation SNP G G A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 1 152192912 152192912 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.1193 p.S398F 0.002 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 30 0 0.00 28 12 30.00 38 1 2.56 33 13 28.26 COTL1 0 genome.wustl.edu 37 16 84651171 84651171 + Silent SNP G G A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 16 84651171 84651171 G A SNP COTL1 ENST00000262428 human ensembl 74_37 -1 known silent c.96 p.D32 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors COTL1 HGNC ENSG00000103187 tier1 - - 100 0 0.00 33 4 10.81 50 0 0.00 6 0 0.00 NUP153 0 genome.wustl.edu 37 6 17633077 17633078 + Splice_Site INS - - A TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 6 17633077 17633078 - A INS NUP153 ENST00000537253 human ensembl 74_37 -1 known splice_site_ins c.2558-3_2558-2 e18-2 0.970:0.138 - - - no_errors NUP153 HGNC ENSG00000124789 tier1 50 0 0.00 30 4 11.76 7 0 0.00 7 1 12.50 PAXIP1 0 genome.wustl.edu 37 7 154760325 154760327 + In_Frame_Del DEL TGC TGC - TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 7 154760325 154760327 TGC - DEL PAXIP1 ENST00000397192 human ensembl 74_37 -1 known in_frame_del c.1586_1584 p.Q531in_frame_del 1.000:1.000:0.993 NULL pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 tier1 37 0 0.00 14 4 22.22 7 0 0.00 4 0 0.00 PCDHA4 0 genome.wustl.edu 37 5 140188483 140188483 + Missense_Mutation SNP G G C TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 5 140188483 140188483 G C SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.1711 p.G571R 0.007 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 tier1 - - 110 0 0.00 34 23 40.35 6 0 0.00 1 0 0.00 WDR18 0 genome.wustl.edu 37 19 991345 991345 + Missense_Mutation SNP C C T TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 19 991345 991345 C T SNP WDR18 ENST00000251289 human ensembl 74_37 +1 known missense c.925 p.L309F 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR18 HGNC ENSG00000065268 tier1 - - 26 0 0.00 1 8 88.89 12 0 0.00 2 0 0.00 ENSG00000256616 0 genome.wustl.edu 37 18 12076541 12076542 + R INS - - CGCCGCCGCCGC TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 18 12076541 12076542 - CGCCGCCGCCGC INS ENSG00000256616 ENST00000591780 human ensembl 74_37 -1 known rna NULL NULL 0.834:0.844 - - - no_errors RP11-815J4.6 Clone_based_vega_gene ENSG00000256616 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 LHX1 0 genome.wustl.edu 37 17 35299571 35299571 + Silent SNP C C T TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 17 35299571 35299571 C T SNP LHX1 ENST00000254457 human ensembl 74_37 +1 known silent c.750 p.A250 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX1 HGNC ENSG00000132130 tier1 - - 22 0 0.00 5 3 37.50 1 0 0.00 0 1 100.00 LTBP3 0 genome.wustl.edu 37 11 65325326 65325328 + In_Frame_Del DEL CAG CAG - TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 11 65325326 65325328 CAG - DEL LTBP3 ENST00000301873 human ensembl 74_37 -1 known in_frame_del c.105_103 p.L35in_frame_del 0.996:0.996:0.995 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 tier1 33 0 0.00 6 2 25.00 0 0 0.00 1 0 0.00 PSG1 0 genome.wustl.edu 37 19 43383689 43383689 + Nonsense_Mutation SNP C C T TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 19 43383689 43383689 C T SNP PSG1 ENST00000312439 human ensembl 74_37 -1 known nonsense c.45 p.W15* 0.024 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG1 HGNC ENSG00000231924 tier1 - - 81 0 0.00 39 36 48.00 1 0 0.00 1 0 0.00 MALAT1 0 genome.wustl.edu 37 11 65273756 65273766 + R DEL TGAACTATATA TGAACTATATA - TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 TGAACTATATA TGAACTATATA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 11 65273756 65273766 TGAACTATATA - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 95 0 0.00 43 3 6.52 95 0 0.00 43 3 6.52 MALAT1 0 genome.wustl.edu 37 11 65273769 65273785 + R DEL TCCTTGATGTATAATTT TCCTTGATGTATAATTT - TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 TCCTTGATGTATAATTT TCCTTGATGTATAATTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 588bb1bf-5859-4649-b7f2-4b1eb2e85078 0785de42-153c-44f5-8af2-74b38a93a637 11 65273769 65273785 TCCTTGATGTATAATTT - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 88 0 0.00 43 3 6.52 88 0 0.00 43 3 6.52