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 MTMR10 0 genome.wustl.edu 37 15 31267168 31267168 + Silent SNP A A G TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 15 31267168 31267168 A G SNP MTMR10 ENST00000435680 human ensembl 74_37 -1 known silent c.297 p.D99 1.000 NULL pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR10 HGNC ENSG00000166912 tier1 - - 51 0 0.00 38 21 35.59 126 0 0.00 79 53 40.15 TOPBP1 0 genome.wustl.edu 37 3 133337269 133337269 + Missense_Mutation SNP C C T TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 3 133337269 133337269 C T SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known missense c.3380 p.R1127H 1.000 NULL pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 tier1 - - 39 0 0.00 50 19 27.14 111 0 0.00 88 26 22.81 CXCL14 0 genome.wustl.edu 37 5 134914193 134914193 + Missense_Mutation SNP A A G TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 5 134914193 134914193 A G SNP CXCL14 ENST00000337225 human ensembl 74_37 -1 known missense c.137 p.I46T 1.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom - no_errors CXCL14 HGNC ENSG00000145824 tier1 - - 62 0 0.00 102 26 20.31 46 0 0.00 88 10 10.20 RGL3 0 genome.wustl.edu 37 19 11526773 11526773 + Missense_Mutation SNP G G A TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 19 11526773 11526773 G A SNP RGL3 ENST00000563726 human ensembl 74_37 -1 known missense c.472 p.P158S 0.981 pfscan_Ras-like_Gua-exchang_fac_N superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL3 HGNC ENSG00000205517 tier1 - - 19 0 0.00 17 9 34.62 20 0 0.00 21 11 34.38 C9 0 genome.wustl.edu 37 5 39288847 39288847 + Silent SNP G G A TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 5 39288847 39288847 G A SNP C9 ENST00000263408 human ensembl 74_37 -1 known silent c.1623 p.I541 0.001 NULL pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt - no_errors C9 HGNC ENSG00000113600 tier1 - - 35 0 0.00 71 11 13.41 101 0 0.00 171 28 14.00 ACTR6 0 genome.wustl.edu 37 12 100613903 100613903 + Missense_Mutation SNP T T C TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 12 100613903 100613903 T C SNP ACTR6 ENST00000188312 human ensembl 74_37 +1 known missense c.1040 p.V347A 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR6 HGNC ENSG00000075089 tier1 - - 33 0 0.00 23 22 48.89 130 0 0.00 51 39 43.33 NEK10 0 genome.wustl.edu 37 3 27393955 27393955 + Splice_Site SNP C C T TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 3 27393955 27393955 C T SNP NEK10 ENST00000341435 human ensembl 74_37 -1 known splice_site c.132+1 e2+1 1.000 - - - no_errors NEK10 HGNC ENSG00000163491 tier1 - - 25 0 0.00 7 12 63.16 96 0 0.00 55 54 49.54 TUBD1 0 genome.wustl.edu 37 17 57968332 57968332 + Missense_Mutation SNP C C T TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 17 57968332 57968332 C T SNP TUBD1 ENST00000325752 human ensembl 74_37 -1 known missense c.32 p.C11Y 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin - no_errors TUBD1 HGNC ENSG00000108423 tier1 - - 8 0 0.00 11 6 35.29 97 0 0.00 65 22 25.29 RTTN 0 genome.wustl.edu 37 18 67836097 67836097 + Silent SNP C C A TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 18 67836097 67836097 C A SNP RTTN ENST00000255674 human ensembl 74_37 -1 known silent c.1683 p.G561 0.061 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 tier1 - - 32 0 0.00 38 16 29.63 83 1 1.19 69 24 25.81 TRPM6 0 genome.wustl.edu 37 9 77390934 77390934 + Missense_Mutation SNP G G A TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 9 77390934 77390934 G A SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.3268 p.R1090C 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 tier1 - - 58 0 0.00 15 41 73.21 74 0 0.00 22 63 74.12 RIMBP2 0 genome.wustl.edu 37 12 130927134 130927134 + Missense_Mutation SNP G G A TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 12 130927134 130927134 G A SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.712 p.R238W 0.780 superfamily_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 tier1 - - 53 0 0.00 46 14 22.95 69 0 0.00 61 16 20.78 EXTL3 0 genome.wustl.edu 37 8 28575380 28575380 + Missense_Mutation SNP C C T TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 8 28575380 28575380 C T SNP EXTL3 ENST00000220562 human ensembl 74_37 +1 known missense c.1804 p.R602C 1.000 NULL pfam_Hexc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 tier1 - - 39 0 0.00 46 11 19.30 102 0 0.00 95 30 24.00 SRMS 0 genome.wustl.edu 37 20 62172208 62172208 + Missense_Mutation SNP C C T TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 20 62172208 62172208 C T SNP SRMS ENST00000217188 human ensembl 74_37 -1 known missense c.1430 p.R477Q 0.388 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,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 - no_errors SRMS HGNC ENSG00000125508 tier1 - - 58 0 0.00 41 22 34.92 31 0 0.00 17 3 14.29 MUC6 0 genome.wustl.edu 37 11 1031025 1031025 + Silent SNP G G T TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 11 1031025 1031025 G T SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known silent c.606 p.A202 0.015 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 - - 48 0 0.00 16 11 40.74 33 0 0.00 22 3 12.00 ZNF19 0 genome.wustl.edu 37 16 71509307 71509307 + Missense_Mutation SNP C C A TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 16 71509307 71509307 C A SNP ZNF19 ENST00000288177 human ensembl 74_37 -1 known missense c.1143 p.Q381H 0.938 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 ZNF19 HGNC ENSG00000157429 tier1 - - 67 0 0.00 60 14 18.92 76 1 1.30 74 26 26.00 COL28A1 0 genome.wustl.edu 37 7 7550731 7550731 + Silent SNP T T C TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 7 7550731 7550731 T C SNP COL28A1 ENST00000399429 human ensembl 74_37 -1 known silent c.918 p.K306 1.000 NULL pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 tier1 - - 49 0 0.00 23 9 28.12 114 1 0.87 67 27 28.72 FBXO38 0 genome.wustl.edu 37 5 147774413 147774413 + Missense_Mutation SNP A A G TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 5 147774413 147774413 A G SNP FBXO38 ENST00000340253 human ensembl 74_37 +1 known missense c.74 p.E25G 1.000 superfamily_F-box_dom superfamily_F-box_dom - no_errors FBXO38 HGNC ENSG00000145868 tier1 - - 64 0 0.00 102 26 20.31 56 0 0.00 94 22 18.97 TBX3 0 genome.wustl.edu 37 12 115112627 115112627 + Silent SNP G G A TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 12 115112627 115112627 G A SNP TBX3 ENST00000257566 human ensembl 74_37 -1 known silent c.1113 p.S371 1.000 pfam_TBX pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 tier1 - - 36 0 0.00 32 14 30.43 46 0 0.00 24 13 34.21 TP53 0 genome.wustl.edu 37 17 7577033 7577033 + Missense_Mutation SNP C C A TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 17 7577033 7577033 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.905 p.G302V 0.865 NULL 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 - - 60 0 0.00 24 31 56.36 69 0 0.00 22 41 64.06 TADA3 0 genome.wustl.edu 37 3 9833131 9833131 + Missense_Mutation SNP C C T TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 3 9833131 9833131 C T SNP TADA3 ENST00000301964 human ensembl 74_37 -1 known missense c.20 p.C7Y 1.000 NULL pfam_Histone_AcTrfase_su3 - no_errors TADA3 HGNC ENSG00000171148 tier1 - - 28 0 0.00 12 9 42.86 56 0 0.00 56 16 22.22 C17orf70 0 genome.wustl.edu 37 17 79517588 79517588 + Missense_Mutation SNP C C A TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 17 79517588 79517588 C A SNP C17orf70 ENST00000327787 human ensembl 74_37 -1 known missense c.932 p.C311F 1.000 NULL NULL - no_errors C17orf70 HGNC ENSG00000185504 tier1 - - 43 0 0.00 17 7 29.17 22 0 0.00 13 9 40.91 NKX2-2 0 genome.wustl.edu 37 20 21494277 21494277 + Missense_Mutation SNP A A C TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 20 21494277 21494277 A C SNP NKX2-2 ENST00000377142 human ensembl 74_37 -1 known missense c.31 p.S11A 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC ENSG00000125820 tier1 - - 50 0 0.00 35 35 50.00 65 0 0.00 60 41 40.59 COL4A2 0 genome.wustl.edu 37 13 111114516 111114516 + Missense_Mutation SNP G G A TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 13 111114516 111114516 G A SNP COL4A2 ENST00000360467 human ensembl 74_37 +1 known missense c.1652 p.R551K 0.003 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 tier1 - - 59 0 0.00 23 8 25.81 67 0 0.00 49 19 27.94 UPK1B 0 genome.wustl.edu 37 3 118909894 118909894 + Silent SNP T T C TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 3 118909894 118909894 T C SNP UPK1B ENST00000264234 human ensembl 74_37 +1 known silent c.411 p.N137 0.941 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1B HGNC ENSG00000114638 tier1 - - 54 0 0.00 34 9 20.93 119 0 0.00 114 14 10.94 TCP11L2 0 genome.wustl.edu 37 12 106729591 106729591 + Missense_Mutation SNP A A C TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 12 106729591 106729591 A C SNP TCP11L2 ENST00000299045 human ensembl 74_37 +1 known missense c.947 p.K316T 0.993 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L2 HGNC ENSG00000166046 tier1 - - 25 0 0.00 10 11 52.38 97 0 0.00 99 22 18.18 TAT 0 genome.wustl.edu 37 16 71610109 71610109 + Frame_Shift_Del DEL G G - TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 16 71610109 71610109 G - DEL TAT ENST00000355962 human ensembl 74_37 -1 known frame_shift_del c.210 p.N70fs 0.983 superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase - no_errors TAT HGNC ENSG00000198650 tier1 133 0 0.00 104 29 21.80 132 0 0.00 121 40 24.84 TP53 0 genome.wustl.edu 37 17 7577029 7577032 + Frame_Shift_Del DEL GCTC GCTC - TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 GCTC GCTC GCTC - GCTC GCTC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 17 7577029 7577032 GCTC - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.909_906 p.S303fs 0.989:0.998:1.000:0.995 NULL 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 62 0 0.00 26 30 53.57 65 0 0.00 25 39 60.94 ATRX 0 genome.wustl.edu 37 X 76888683 76888697 + Splice_Site DEL TTAATACCTTACCTG TTAATACCTTACCTG - TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 TTAATACCTTACCTG TTAATACCTTACCTG TTAATACCTTACCTG - TTAATACCTTACCTG TTAATACCTTACCTG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac X 76888683 76888697 TTAATACCTTACCTG - DEL ATRX ENST00000373344 human ensembl 74_37 -1 known splice_site_del c.5134+4_5134+1 e20-1 0.000:0.000:0.001:0.001:0.060:0.078:0.018:0.028:0.138:0.969:1.000:1.000:1.000:1.000:1.000 - - - no_errors ATRX HGNC ENSG00000085224 tier1 119 0 0.00 22 5 18.52 119 0 0.00 22 5 18.52 KRTAP12-2 0 genome.wustl.edu 37 21 46086641 46086641 + Missense_Mutation SNP A A G TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 21 46086641 46086641 A G SNP KRTAP12-2 ENST00000360770 human ensembl 74_37 -1 known missense c.163 p.C55R 0.153 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP12-2 HGNC ENSG00000221864 tier1 - - 62 0 0.00 30 19 38.78 19 0 0.00 8 2 20.00 MAGED1 0 genome.wustl.edu 37 X 51637744 51637744 + Missense_Mutation SNP G G C TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac X 51637744 51637744 G C SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known missense c.67 p.V23L 0.484 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 tier1 - - 50 0 0.00 50 7 12.28 15 0 0.00 7 6 46.15 NFATC2 0 genome.wustl.edu 37 20 50049142 50049142 + Missense_Mutation SNP G G C TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 20 50049142 50049142 G C SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.2184 p.C728W 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_D-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 tier1 - - 136 0 0.00 111 16 12.60 14 0 0.00 7 3 30.00 GLRA1 0 genome.wustl.edu 37 5 151235943 151235943 + Missense_Mutation SNP T T C TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 5 151235943 151235943 T C SNP GLRA1 ENST00000455880 human ensembl 74_37 -1 known missense c.478 p.I160V 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A1,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA1 HGNC ENSG00000145888 tier1 - - 25 0 0.00 45 8 15.09 66 0 0.00 73 7 8.75 CFP 0 genome.wustl.edu 37 X 47487931 47487931 + R SNP C C T TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac X 47487931 47487931 C T SNP CFP ENST00000480317 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CFP HGNC ENSG00000126759 tier1 - - 88 0 0.00 133 15 10.14 135 0 0.00 141 10 6.62 SRSF5 0 genome.wustl.edu 37 14 70234913 70234930 + In_Frame_Del DEL GCGGCCAGGGAGAAGGAC GCGGCCAGGGAGAAGGAC - TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 GCGGCCAGGGAGAAGGAC GCGGCCAGGGAGAAGGAC GCGGCCAGGGAGAAGGAC - GCGGCCAGGGAGAAGGAC GCGGCCAGGGAGAAGGAC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 14 70234913 70234930 GCGGCCAGGGAGAAGGAC - DEL SRSF5 ENST00000451983 human ensembl 74_37 +1 known in_frame_del c.40_57 p.AAREKD14in_frame_del 0.897:0.990:0.986:1.000:1.000:1.000:0.990:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.993:1.000:1.000:1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF5 HGNC ENSG00000100650 tier1 117 0 0.00 117 5 4.10 117 0 0.00 117 5 4.10 FOXN4 0 genome.wustl.edu 37 12 109725976 109725976 + Missense_Mutation SNP G G T TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 12 109725976 109725976 G T SNP FOXN4 ENST00000299162 human ensembl 74_37 -1 known missense c.242 p.A81D 0.808 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN4 HGNC ENSG00000139445 tier1 - - 57 0 0.00 27 4 12.90 2 0 0.00 1 0 0.00 GOLGA6L4 0 genome.wustl.edu 37 15 84909385 84909385 + Missense_Mutation SNP G G A TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 15 84909385 84909385 G A SNP GOLGA6L4 ENST00000422563 human ensembl 74_37 +1 known missense c.307 p.D103N 0.004 NULL NULL - no_errors GOLGA6L4 HGNC ENSG00000184206 tier1 rs77228815 - 91 0 0.00 118 12 9.23 0 0 0.00 0 0 0.00 ALG1 0 genome.wustl.edu 37 16 5125535 5125536 + Frame_Shift_Ins INS - - GA TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 16 5125535 5125536 - GA INS ALG1 ENST00000262374 human ensembl 74_37 +1 known frame_shift_ins c.537_538 p.W179fs 0.998:1.000 NULL pfam_Glyco_trans_1 - no_errors ALG1 HGNC ENSG00000033011 tier1 52 0 0.00 40 5 11.11 92 0 0.00 94 3 3.09 ALG1 0 genome.wustl.edu 37 16 5125537 5125538 + Frame_Shift_Ins INS - - A TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 16 5125537 5125538 - A INS ALG1 ENST00000262374 human ensembl 74_37 +1 known frame_shift_ins c.539_540 p.W180fs 1.000:1.000 NULL pfam_Glyco_trans_1 - no_errors ALG1 HGNC ENSG00000033011 tier1 49 0 0.00 39 5 11.36 91 0 0.00 93 3 3.12 C1orf35 0 genome.wustl.edu 37 1 228288708 228288709 + R INS - - A TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd93f952-2796-426f-add8-9a7ab441c794 39fd2203-42c8-4284-98bc-ff7ca45239ac 1 228288708 228288709 - A INS C1orf35 ENST00000469781 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors C1orf35 HGNC ENSG00000143793 tier1 40 0 0.00 28 6 17.65 35 0 0.00 37 2 5.13