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 RARB 0 genome.wustl.edu 37 3 25622051 25622051 + Missense_Mutation SNP C C A TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 3 25622051 25622051 C A SNP RARB ENST00000404969 human ensembl 74_37 +1 known missense c.645 p.D215E 0.997 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 tier1 - - 56 0 0.00 15 20 57.14 70 1 1.39 43 38 46.91 ENSG00000204398 0 genome.wustl.edu 37 13 112240744 112240744 + R SNP C C T TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 13 112240744 112240744 C T SNP ENSG00000204398 ENST00000607406 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-65D24.2 Clone_based_vega_gene ENSG00000204398 tier1 - - 39 0 0.00 23 12 34.29 56 0 0.00 27 23 46.00 KCNMB3 0 genome.wustl.edu 37 3 178968712 178968712 + Missense_Mutation SNP G G A TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 3 178968712 178968712 G A SNP KCNMB3 ENST00000314235 human ensembl 74_37 -1 known missense c.79 p.P27S 0.002 NULL pfam_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB3 HGNC ENSG00000171121 tier1 - - 45 0 0.00 24 23 48.94 78 0 0.00 36 35 49.30 C6orf165 0 genome.wustl.edu 37 6 88119637 88119637 + Missense_Mutation SNP T T C TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 6 88119637 88119637 T C SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known missense c.80 p.I27T 0.100 NULL pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 tier1 - - 210 0 0.00 62 63 50.40 133 0 0.00 72 57 44.19 SVILP1 0 genome.wustl.edu 37 10 30987307 30987307 + R SNP G G T TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 10 30987307 30987307 G T SNP SVILP1 ENST00000435645 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors SVILP1 HGNC ENSG00000234814 tier1 - - 84 0 0.00 48 30 38.46 81 0 0.00 63 40 38.83 TSC22D2 0 genome.wustl.edu 37 3 150128722 150128722 + Missense_Mutation SNP C C T TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 3 150128722 150128722 C T SNP TSC22D2 ENST00000361875 human ensembl 74_37 +1 known missense c.1585 p.P529S 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D2 HGNC ENSG00000196428 tier1 - - 58 0 0.00 20 18 47.37 48 0 0.00 27 17 38.64 STK36 0 genome.wustl.edu 37 2 219563973 219563973 + Missense_Mutation SNP C C T TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 2 219563973 219563973 C T SNP STK36 ENST00000295709 human ensembl 74_37 +1 known missense c.3706 p.R1236W 0.994 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK36 HGNC ENSG00000163482 tier1 - - 42 0 0.00 9 10 52.63 81 0 0.00 46 29 38.67 LINC00933 0 genome.wustl.edu 37 15 85121416 85121416 + R SNP A A T TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 15 85121416 85121416 A T SNP LINC00933 ENST00000557887 human ensembl 74_37 +1 known rna NULL NULL 0.235 - - - no_errors LINC00933 HGNC ENSG00000259728 tier1 - - 19 0 0.00 6 3 33.33 46 0 0.00 26 3 10.34 TENM3 0 genome.wustl.edu 37 4 183650181 183650181 + Missense_Mutation SNP A A C TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 4 183650181 183650181 A C SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.2432 p.Y811S 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 tier1 - - 72 0 0.00 24 29 54.72 97 0 0.00 64 43 40.19 SYT6 0 genome.wustl.edu 37 1 114646326 114646326 + Silent SNP T T C TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 1 114646326 114646326 T C SNP SYT6 ENST00000393296 human ensembl 74_37 -1 known silent c.1089 p.G363 0.716 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT6 HGNC ENSG00000134207 tier1 - - 48 0 0.00 22 11 33.33 75 0 0.00 41 26 38.81 MIR202 0 genome.wustl.edu 37 10 135061186 135061186 + R SNP G G A TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 10 135061186 135061186 G A SNP MIR202 ENST00000300167 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors MIR202 HGNC ENSG00000166917 tier1 - - 92 0 0.00 42 32 43.24 63 0 0.00 11 22 66.67 RBP3 0 genome.wustl.edu 37 10 48389030 48389030 + Silent SNP G G A TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 10 48389030 48389030 G A SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known silent c.1848 p.I616 0.981 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 tier1 - - 75 0 0.00 32 4 11.11 38 0 0.00 25 5 16.67 C4orf40 0 genome.wustl.edu 37 4 71024318 71024318 + Missense_Mutation SNP T T A TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 4 71024318 71024318 T A SNP C4orf40 ENST00000344526 human ensembl 74_37 +1 known missense c.349 p.F117I 0.000 NULL NULL - no_errors C4orf40 HGNC ENSG00000187533 tier1 - - 56 0 0.00 25 17 40.48 95 0 0.00 39 40 50.63 AHK 0 genome.wustl.edu 37 11 62286210 62286210 + Missense_Mutation SNP G G A TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 11 62286210 62286210 G A SNP AHK ENST00000378024 human ensembl 74_37 -1 known missense c.15679 p.P5227S 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK HGNC ENSG00000124942 tier1 - - 43 0 0.00 17 17 50.00 117 0 0.00 54 52 49.06 FRMD1 0 genome.wustl.edu 37 6 168464403 168464403 + Missense_Mutation SNP G G A TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 6 168464403 168464403 G A SNP FRMD1 ENST00000283309 human ensembl 74_37 -1 known missense c.682 p.R228W 0.938 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD1 HGNC ENSG00000153303 tier1 - - 30 0 0.00 21 16 43.24 59 0 0.00 48 31 39.24 TEX10 0 genome.wustl.edu 37 9 103109310 103109310 + Missense_Mutation SNP C C A TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 9 103109310 103109310 C A SNP TEX10 ENST00000374902 human ensembl 74_37 -1 known missense c.559 p.V187L 1.000 pfam_IPI1/TEX10,superfamily_ARM-type_fold pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 tier1 - - 30 0 0.00 11 16 59.26 86 0 0.00 40 41 50.62 FUZ 0 genome.wustl.edu 37 19 50315965 50315965 + Missense_Mutation SNP T T C TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 19 50315965 50315965 T C SNP FUZ ENST00000313777 human ensembl 74_37 -1 known missense c.140 p.N47S 1.000 NULL NULL - no_errors FUZ HGNC ENSG00000010361 tier1 - - 51 0 0.00 24 21 46.67 99 0 0.00 46 32 41.03 TLN2 0 genome.wustl.edu 37 15 63055879 63055879 + Silent SNP C C T TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 15 63055879 63055879 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known silent c.5079 p.D1693 0.962 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 tier1 - - 33 0 0.00 12 23 65.71 89 1 1.11 43 54 55.67 MOSPD1 0 genome.wustl.edu 37 X 134033514 134033514 + R SNP A A C TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 X 134033514 134033514 A C SNP MOSPD1 ENST00000462060 human ensembl 74_37 -1 known rna NULL NULL 0.873 - - - no_errors MOSPD1 HGNC ENSG00000101928 tier1 - - 65 0 0.00 23 29 55.77 100 0 0.00 58 53 47.75 LOC643201 0 genome.wustl.edu 37 5 175583878 175583878 + R SNP G G T TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 5 175583878 175583878 G T SNP LOC643201 ENST00000515403 human ensembl 74_37 -1 known rna NULL NULL 0.940 - - - no_errors RP11-844P9.2 Clone_based_vega_gene ENSG00000248596 tier1 - - 48 0 0.00 37 4 9.76 128 0 0.00 118 23 16.20 SLC7A9 0 genome.wustl.edu 37 19 33349358 33349358 + Missense_Mutation SNP A A C TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 19 33349358 33349358 A C SNP SLC7A9 ENST00000023064 human ensembl 74_37 -1 known missense c.965 p.F322C 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 tier1 - - 37 0 0.00 17 8 32.00 82 0 0.00 46 23 33.33 MLF1IP 0 genome.wustl.edu 37 4 185652114 185652114 + Missense_Mutation SNP C C T TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 4 185652114 185652114 C T SNP MLF1IP ENST00000281453 human ensembl 74_37 -1 known missense c.56 p.R19H 0.000 NULL NULL - no_errors MLF1IP HGNC ENSG00000151725 tier1 - - 86 0 0.00 35 8 18.60 104 0 0.00 89 17 16.04 PPP2R2A 0 genome.wustl.edu 37 8 26218555 26218555 + Silent SNP T T G TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 8 26218555 26218555 T G SNP PPP2R2A ENST00000380737 human ensembl 74_37 +1 known silent c.525 p.A175 0.997 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2A HGNC ENSG00000221914 tier1 - - 82 0 0.00 40 27 40.30 102 0 0.00 52 46 46.94 OR1S1 0 genome.wustl.edu 37 11 57982690 57982690 + Silent SNP A A T TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 11 57982690 57982690 A T SNP OR1S1 ENST00000309433 human ensembl 74_37 +1 known silent c.474 p.T158 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 OR1S1 HGNC ENSG00000172774 tier1 - - 43 0 0.00 10 27 72.97 108 0 0.00 49 44 47.31 ETAA1 0 genome.wustl.edu 37 2 67631536 67631539 + Frame_Shift_Del DEL TTCT TTCT - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 TTCT TTCT TTCT - TTCT TTCT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 2 67631536 67631539 TTCT - DEL ETAA1 ENST00000272342 human ensembl 74_37 +1 known frame_shift_del c.1722_1725 p.F576fs 0.011:0.116:0.932:0.987 NULL NULL - no_errors ETAA1 HGNC ENSG00000143971 tier1 20 0 0.00 16 5 23.81 145 0 0.00 79 56 41.48 HYLS1 0 genome.wustl.edu 37 11 125770156 125770158 + In_Frame_Del DEL CTT CTT - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 CTT CTT CTT - CTT CTT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 11 125770156 125770158 CTT - DEL HYLS1 ENST00000356438 human ensembl 74_37 +1 known in_frame_del c.893_895 p.S299in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors HYLS1 HGNC ENSG00000198331 tier1 52 0 0.00 18 20 52.63 95 0 0.00 67 58 46.40 TRIM52 0 genome.wustl.edu 37 5 180687743 180687746 + Frame_Shift_Del DEL CAAG CAAG - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 CAAG CAAG CAAG - CAAG CAAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 5 180687743 180687746 CAAG - DEL TRIM52 ENST00000327767 human ensembl 74_37 -1 known frame_shift_del c.72_69 p.C23fs 1.000:1.000:1.000:1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM52 HGNC ENSG00000183718 tier1 40 0 0.00 19 14 42.42 104 0 0.00 48 33 40.74 NPDC1 0 genome.wustl.edu 37 9 139935530 139935531 + Frame_Shift_Del DEL CT CT - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 CT CT CT - CT CT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 9 139935530 139935531 CT - DEL NPDC1 ENST00000371600 human ensembl 74_37 -1 known frame_shift_del c.603_602 p.Q201fs 0.001:0.001 pfam_NPDC1 pfam_NPDC1 - no_errors NPDC1 HGNC ENSG00000107281 tier1 84 0 0.00 34 27 44.26 49 0 0.00 16 11 40.74 RSL1D1 0 genome.wustl.edu 37 16 11941583 11941584 + Frame_Shift_Del DEL TT TT - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 TT TT TT - TT TT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 16 11941583 11941584 TT - DEL RSL1D1 ENST00000571133 human ensembl 74_37 -1 known frame_shift_del c.326_325 p.K109fs 0.995:0.892 pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like - no_errors RSL1D1 HGNC ENSG00000171490 tier1 68 0 0.00 31 29 48.33 130 0 0.00 60 104 63.41 PRKAR2B 0 genome.wustl.edu 37 7 106786808 106786809 + Frame_Shift_Del DEL TA TA - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 TA TA TA - TA TA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 7 106786808 106786809 TA - DEL PRKAR2B ENST00000265717 human ensembl 74_37 +1 known frame_shift_del c.643_644 p.Y215fs 1.000:1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR2B HGNC ENSG00000005249 tier1 84 0 0.00 37 24 39.34 175 0 0.00 95 49 34.03 IRF3 0 genome.wustl.edu 37 19 50165229 50165230 + Frame_Shift_Del DEL AC AC - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 AC AC AC - AC AC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 19 50165229 50165230 AC - DEL IRF3 ENST00000309877 human ensembl 74_37 -1 known frame_shift_del c.958_957 p.F320fs 0.004:0.003 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_D-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_D-bd_dom,prints_Interferon_reg_fact_D-bd_dom - no_errors IRF3 HGNC ENSG00000126456 tier1 67 0 0.00 28 21 42.86 118 0 0.00 44 23 34.33 ATRX 0 genome.wustl.edu 37 X 76939473 76939474 + Frame_Shift_Del DEL TT TT - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 TT TT TT - TT TT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 X 76939473 76939474 TT - DEL ATRX ENST00000373344 human ensembl 74_37 -1 known frame_shift_del c.1275_1274 p.K425fs 0.312:0.307 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 53 0 0.00 3 15 83.33 150 0 0.00 27 66 70.97 UGGT1 0 genome.wustl.edu 37 2 128900693 128900694 + Frame_Shift_Del DEL AA AA - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 AA AA AA - AA AA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 2 128900693 128900694 AA - DEL UGGT1 ENST00000259253 human ensembl 74_37 +1 known frame_shift_del c.1745_1746 p.K583fs 0.996:0.531 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 tier1 99 0 0.00 25 19 43.18 114 0 0.00 86 64 42.67 AFM 0 genome.wustl.edu 37 4 74347514 74347514 + Frame_Shift_Del DEL G G - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 4 74347514 74347514 G - DEL AFM ENST00000226355 human ensembl 74_37 +1 known frame_shift_del c.22 p.G8fs 0.856 pirsf_Serum_albumin/AFP pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB,prints_Alpha-fetoprotein - no_errors AFM HGNC ENSG00000079557 tier1 99 0 0.00 35 16 31.37 82 0 0.00 44 34 43.59 TADA3 0 genome.wustl.edu 37 3 9827049 9827050 + Frame_Shift_Del DEL CT CT - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 CT CT CT - CT CT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 3 9827049 9827050 CT - DEL TADA3 ENST00000301964 human ensembl 74_37 -1 known frame_shift_del c.871_870 p.A292fs 0.617:0.028 NULL pfam_Histone_AcTrfase_su3 - no_errors TADA3 HGNC ENSG00000171148 tier1 85 0 0.00 24 12 33.33 111 0 0.00 61 44 41.90 MICALL1 0 genome.wustl.edu 37 22 38323604 38323605 + Frame_Shift_Del DEL CT CT - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 CT CT CT - CT CT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 22 38323604 38323605 CT - DEL MICALL1 ENST00000215957 human ensembl 74_37 +1 known frame_shift_del c.1652_1653 p.P551fs 0.572:0.475 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL1 HGNC ENSG00000100139 tier1 129 0 0.00 8 52 86.67 107 0 0.00 10 46 82.14 TOPAZ1 0 genome.wustl.edu 37 3 44346765 44346766 + Frame_Shift_Del DEL TA TA - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 TA TA TA - TA TA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 3 44346765 44346766 TA - DEL TOPAZ1 ENST00000309765 human ensembl 74_37 +1 known frame_shift_del c.3991_3992 p.Y1331fs 0.462:0.000 NULL NULL - no_errors TOPAZ1 HGNC ENSG00000173769 tier1 60 0 0.00 27 12 30.77 149 0 0.00 89 74 45.40 MGME1 0 genome.wustl.edu 37 20 17956397 17956398 + Frame_Shift_Del DEL AG AG - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 AG AG AG - AG AG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 20 17956397 17956398 AG - DEL MGME1 ENST00000377710 human ensembl 74_37 +1 known frame_shift_del c.582_583 p.D197fs 0.395:0.212 NULL superfamily_Restrct_endonuc-II-like - no_errors MGME1 HGNC ENSG00000125871 tier1 53 0 0.00 36 17 32.08 146 0 0.00 68 56 45.16 ATMIN 0 genome.wustl.edu 37 16 81077734 81077735 + Frame_Shift_Del DEL AT AT - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 AT AT AT - AT AT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 16 81077734 81077735 AT - DEL ATMIN ENST00000299575 human ensembl 74_37 +1 known frame_shift_del c.1631_1632 p.H544fs 0.052:0.000 NULL smart_Znf_C2H2-like - no_errors ATMIN HGNC ENSG00000166454 tier1 50 0 0.00 20 9 31.03 15 0 0.00 3 10 76.92 COQ9 0 genome.wustl.edu 37 16 57493517 57493519 + In_Frame_Del DEL ACA ACA - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 ACA ACA ACA - ACA ACA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 16 57493517 57493519 ACA - DEL COQ9 ENST00000262507 human ensembl 74_37 +1 known in_frame_del c.752_754 p.N252in_frame_del 1.000:1.000:1.000 pfam_COQ9,tigrfam_Ubiq_biosynth_COQ9 pfam_COQ9,superfamily_Homeodomain-like,tigrfam_Ubiq_biosynth_COQ9 - no_errors COQ9 HGNC ENSG00000088682 tier1 36 0 0.00 5 18 78.26 69 0 0.00 7 22 75.86 LETM1 0 genome.wustl.edu 37 4 1824837 1824837 + Missense_Mutation SNP C C T TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 4 1824837 1824837 C T SNP LETM1 ENST00000302787 human ensembl 74_37 -1 known missense c.1354 p.V452M 0.993 NULL pfam_LETM1,pfscan_EF_hand_dom - no_errors LETM1 HGNC ENSG00000168924 tier1 - - 65 0 0.00 6 10 62.50 49 0 0.00 2 15 88.24 MTFR1 0 genome.wustl.edu 37 8 66620234 66620237 + Frame_Shift_Del DEL AGAG AGAG - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 AGAG AGAG AGAG - AGAG AGAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 8 66620234 66620237 AGAG - DEL MTFR1 ENST00000262146 human ensembl 74_37 +1 known frame_shift_del c.921_924 p.R309fs 0.994:0.993:0.944:0.308 NULL pfam_Mtfr1 - no_errors MTFR1 HGNC ENSG00000066855 tier1 58 0 0.00 8 19 70.37 98 0 0.00 9 27 75.00 PLXNB2 0 genome.wustl.edu 37 22 50718148 50718148 + Missense_Mutation SNP T T C TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 22 50718148 50718148 T C SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.4300 p.K1434E 1.000 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 - - 90 0 0.00 4 26 86.67 119 0 0.00 7 57 89.06 SETD1A 0 genome.wustl.edu 37 16 30992058 30992059 + Splice_Site DEL AG AG - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 AG AG AG - AG AG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 16 30992058 30992059 AG - DEL SETD1A ENST00000262519 human ensembl 74_37 +1 known splice_site_del c.4582-2_4582-1 e15-1 1.000:1.000 - - - no_errors SETD1A HGNC ENSG00000099381 tier1 68 0 0.00 33 31 48.44 19 0 0.00 9 8 47.06 TONSL 0 genome.wustl.edu 37 8 145660403 145660403 + Silent SNP G G A TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 8 145660403 145660403 G A SNP TONSL ENST00000409379 human ensembl 74_37 -1 known silent c.3003 p.D1001 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 tier1 - - 95 0 0.00 4 27 87.10 15 0 0.00 1 6 85.71 TP53 0 genome.wustl.edu 37 17 7579346 7579348 + In_Frame_Del DEL AAG AAG - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 AAG AAG AAG - AAG AAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 17 7579346 7579348 AAG - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known in_frame_del c.341_339 p.F113in_frame_del 0.998:1.000:1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd 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 124 0 0.00 4 30 88.24 146 0 0.00 7 41 85.42 ZNF469 0 genome.wustl.edu 37 16 88504643 88504643 + Frame_Shift_Del DEL C C - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 16 88504643 88504643 C - DEL ZNF469 ENST00000437464 human ensembl 74_37 +1 known frame_shift_del c.10681 p.P3561fs 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 tier1 57 0 0.00 19 28 59.57 15 0 0.00 7 5 41.67 ORM1 0 genome.wustl.edu 37 9 117087474 117087474 + R SNP C C G TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 9 117087474 117087474 C G SNP ORM1 ENST00000477456 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ORM1 HGNC ENSG00000229314 tier1 - - 108 0 0.00 87 13 13.00 406 1 0.25 464 28 5.68 ARHGAP31 0 genome.wustl.edu 37 3 119133104 119133134 + Frame_Shift_Del DEL TCTGTCTCCTCCACTCCCACCTGCTCCTCCC TCTGTCTCCTCCACTCCCACCTGCTCCTCCC - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 TCTGTCTCCTCCACTCCCACCTGCTCCTCCC TCTGTCTCCTCCACTCCCACCTGCTCCTCCC TCTGTCTCCTCCACTCCCACCTGCTCCTCCC - TCTGTCTCCTCCACTCCCACCTGCTCCTCCC TCTGTCTCCTCCACTCCCACCTGCTCCTCCC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 3 119133104 119133134 TCTGTCTCCTCCACTCCCACCTGCTCCTCCC - DEL ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known frame_shift_del c.2328_2358 p.S778fs 0.057:0.059:0.035:0.024:0.028:0.051:0.004:0.013:0.021:0.004:0.002:0.000:0.000:0.004:0.007:0.006:0.007:0.007:0.006:0.919:0.985:0.990:1.000:1.000:0.998:0.987:1.000:0.998:1.000:1.000:0.990 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 tier1 117 0 0.00 73 4 5.19 117 0 0.00 73 4 5.19 MALAT1 0 genome.wustl.edu 37 11 65268614 65268614 + R SNP C C T TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 11 65268614 65268614 C T SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 43 0 0.00 23 21 47.73 146 2 1.35 66 71 51.82 AMY1C 0 genome.wustl.edu 37 1 104297408 104297408 + Missense_Mutation SNP G G A TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 1 104297408 104297408 G A SNP AMY1C ENST00000370079 human ensembl 74_37 +1 known missense c.1073 p.R358H 0.998 superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY1C HGNC ENSG00000187733 tier1 - - 19 0 0.00 1 10 90.91 9 0 0.00 0 1 100.00 ENSG00000256982 0 genome.wustl.edu 37 16 89119157 89119157 + R DEL T T - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 16 89119157 89119157 T - DEL ENSG00000256982 ENST00000537498 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors CTD-2555A7.2 Clone_based_vega_gene ENSG00000256982 tier1 26 0 0.00 15 3 16.67 5 0 0.00 3 1 25.00 NSUN5 0 genome.wustl.edu 37 7 72717970 72717973 + Frame_Shift_Del DEL GCAT GCAT - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 GCAT GCAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 7 72717970 72717973 GCAT - DEL NSUN5 ENST00000438747 human ensembl 74_37 -1 known frame_shift_del c.998_995 p.H332fs 0.962:0.948:0.057:0.066 pfam_Fmu/NOL1/Nop2p pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN5 HGNC ENSG00000130305 tier1 85 0 0.00 34 27 44.26 12 0 0.00 3 1 25.00 CNTP3B 0 genome.wustl.edu 37 9 43915500 43915500 + Missense_Mutation SNP G G C TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 9 43915500 43915500 G C SNP CNTP3B ENST00000377564 human ensembl 74_37 +1 known missense c.3583 p.G1195R 0.363 pfscan_Laminin_G 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 CNTP3B HGNC ENSG00000154529 tier1 - - 14 0 0.00 9 4 30.77 0 0 0.00 0 0 0.00 ENSG00000244306 0 genome.wustl.edu 37 14 19855845 19855845 + R SNP C C T TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 14 19855845 19855845 C T SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 tier1 - - 9 0 0.00 7 4 36.36 0 0 0.00 1 0 0.00 ENSG00000263378 0 genome.wustl.edu 37 6 73972779 73972793 + R DEL GCGGCGGCGGCGGCA GCGGCGGCGGCGGCA - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 GCGGCGGCGGCGGCA GCGGCGGCGGCGGCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 6 73972779 73972793 GCGGCGGCGGCGGCA - DEL ENSG00000263378 ENST00000584443 human ensembl 74_37 +1 novel rna NULL NULL 0.010:0.008:0.003:0.004:0.002:0.001:0.002:0.003:0.003:0.012:0.028:0.028:0.029:0.029:0.028 - - - no_errors AC019205.1 Clone_based_ensembl_gene ENSG00000263378 tier1 0 0 0.00 0 1 100.00 0 0 0.00 0 1 100.00 FGF9 0 genome.wustl.edu 37 13 22275848 22275849 + R INS - - TGTGTG TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 13 22275848 22275849 - TGTGTG INS FGF9 ENST00000478546 human ensembl 74_37 +1 known rna NULL NULL 0.004:0.000 - - - no_errors FGF9 HGNC ENSG00000102678 tier1 0 0 0.00 1 0 0.00 0 0 0.00 1 0 0.00 KRTAP10-9 0 genome.wustl.edu 37 21 46048196 46048197 + R INS - - CGCTGGT TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 21 46048196 46048197 - CGCTGGT INS KRTAP10-9 ENST00000484861 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors KRTAP10-9 HGNC ENSG00000221837 tier1 0 0 0.00 1 0 0.00 0 0 0.00 1 0 0.00 SHOX2 0 genome.wustl.edu 37 3 157816014 157816014 + Silent SNP C C T TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 3 157816014 157816014 C T SNP SHOX2 ENST00000389589 human ensembl 74_37 -1 known silent c.870 p.P290 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors SHOX2 HGNC ENSG00000168779 tier1 - - 37 0 0.00 37 4 9.76 3 0 0.00 6 0 0.00 TULP4 0 genome.wustl.edu 37 6 158923753 158923753 + Frame_Shift_Del DEL G G - TCGA-X2-A95T-01A-11D-A37C-09 TCGA-X2-A95T-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eae14da4-7965-48f3-919d-f1a4d02028a4 9de98674-1ec6-4f41-99e7-4628c6bd23f5 6 158923753 158923753 G - DEL TULP4 ENST00000367097 human ensembl 74_37 +1 known frame_shift_del c.3058 p.V1022fs 0.001 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 tier1 35 0 0.00 16 2 11.11 0 0 0.00 4 0 0.00