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 rsID rsID_ref_var_alleles CAF normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumor_var_reads tumor_vaf normal_ref_reads_val normal_var_reads_val normal_vaf_val tumor_ref_reads_val tumor_var_reads_val tumor_vaf_val MT-CO1 0 genome.wustl.edu 37 MT 5947 5947 + Missense_Mutation SNP T T C TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 MT 5947 5947 T C SNP MT-CO1 ENST00000361624 human ensembl 74_37 1 known missense c.44 p.I15T NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 0 no_errors 0 0 0 12 0 0 31 29 48.33 0 0 0.00 1 6 85.71 MXRA5 0 genome.wustl.edu 37 X 3235593 3235593 + Silent SNP C C G TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 X 3235593 3235593 C G SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.6129 p.A2043 0.042 smart_Ig_sub pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 0 no_errors 0 0 0 75 0 0 31 23 42.59 21 0 0.00 18 16 47.06 PHEX 0 genome.wustl.edu 37 X 22129592 22129592 + Missense_Mutation SNP G G A TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 X 22129592 22129592 G A SNP PHEX ENST00000379374 human ensembl 74_37 1 known missense c.1087 p.A363T 1 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C 0 no_errors 0 0 0 83 0 0 45 24 34.78 246 2 0.81 127 72 36.00 RPGR 0 genome.wustl.edu 37 X 38146390 38146390 + Missense_Mutation SNP T T C TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 X 38146390 38146390 T C SNP RPGR ENST00000378505 human ensembl 74_37 -1 known missense c.1862 p.E621G 0.059 NULL pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens 0 no_errors 0 0 0 20 0 0 11 7 38.89 244 0 0.00 113 90 44.33 GPR173 0 genome.wustl.edu 37 X 53106206 53106206 + Missense_Mutation SNP A A G TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 X 53106206 53106206 A G SNP GPR173 ENST00000332582 human ensembl 74_37 1 known missense c.403 p.M135V 1 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn 0 no_errors 0 0 0 16 0 0 5 10 66.67 28 0 0.00 19 7 26.92 TMEM185A 0 genome.wustl.edu 37 X 148692970 148692970 + Missense_Mutation SNP C C T TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 X 148692970 148692970 C T SNP TMEM185A ENST00000316916 human ensembl 74_37 -1 known missense c.215 p.R72Q 1 pfam_TM_Fragile-X-F-assoc pfam_TM_Fragile-X-F-assoc 0 no_errors 0 0 0 168 0 0 84 55 39.57 239 0 0.00 120 89 42.58 NECAP2 0 genome.wustl.edu 37 1 16785395 16785395 + Silent SNP G G A TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 1 16785395 16785395 G A SNP NECAP2 ENST00000443980 human ensembl 74_37 1 known silent c.726 p.T242 0 NULL pfam_NECAP-1 0 no_errors 0 0 0 64 0 0 43 7 14 136 0 0.00 128 9 6.52 PIN1P1 0 genome.wustl.edu 37 1 70385486 70385486 + RNA SNP C C T TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 1 70385486 70385486 C T SNP PIN1P1 ENST00000412108 human ensembl 74_37 1 known rna NULL NULL 0.971 0 0 0 no_errors 0 0 0 53 0 0 29 11 27.5 88 0 0.00 37 19 33.93 CCDC108 0 genome.wustl.edu 37 2 219870259 219870259 + Silent SNP T T G TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 2 219870259 219870259 T G SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known silent c.4948 p.R1650 0 NULL superfamily_PapD-like,pfscan_MSP_dom 0 no_errors 0 0 0 72 0 0 49 25 33.78 147 0 0.00 76 46 37.40 PTPRN 0 genome.wustl.edu 37 2 220164896 220164896 + Missense_Mutation SNP G G C TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 2 220164896 220164896 G C SNP PTPRN ENST00000295718 human ensembl 74_37 -1 known missense c.1247 p.P416R 0.732 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt 0 no_errors 0 0 0 20 0 0 9 11 55 83 0 0.00 55 30 35.29 IQCA1 0 genome.wustl.edu 37 2 237246856 237246856 + Missense_Mutation SNP G G T TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 2 237246856 237246856 G T SNP IQCA1 ENST00000409907 human ensembl 74_37 -1 known missense c.2126 p.S709Y 1 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS 0 no_errors 0 0 0 44 0 0 26 16 38.1 242 0 0.00 109 59 35.12 HES1 0 genome.wustl.edu 37 3 193855974 193855974 + Missense_Mutation SNP C C G TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 3 193855974 193855974 C G SNP HES1 ENST00000232424 human ensembl 74_37 1 known missense c.795 p.S265R 1 NULL pfam_Orange,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom 0 no_errors 0 0 0 55 0 0 27 20 42.55 56 0 0.00 59 39 39.80 ZSCAN16 0 genome.wustl.edu 37 6 28097443 28097443 + Silent SNP C C T TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 6 28097443 28097443 C T SNP ZSCAN16 ENST00000340487 human ensembl 74_37 1 known silent c.762 p.H254 0.839 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN 0 no_errors 0 0 0 73 0 0 28 32 53.33 245 0 0.00 130 70 35.00 FILIP1 0 genome.wustl.edu 37 6 76022744 76022744 + Missense_Mutation SNP A A G TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 6 76022744 76022744 A G SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known missense c.2804 p.F935S 0.998 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin 0 no_errors 0 0 0 42 0 0 17 11 39.29 219 0 0.00 138 80 36.70 LFNG 0 genome.wustl.edu 37 7 2565349 2565349 + Missense_Mutation SNP G G A TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 7 2565349 2565349 G A SNP LFNG ENST00000222725 human ensembl 74_37 1 known missense c.766 p.G256S 1 pfam_Fringe-like,pirsf_Fringe pfam_Fringe-like,pirsf_Fringe 0 no_errors 0 0 0 38 0 0 37 7 15.91 97 0 0.00 71 3 4.05 GTF2I 0 genome.wustl.edu 37 7 74146970 74146970 + Missense_Mutation SNP T T A TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 7 74146970 74146970 T A SNP GTF2I ENST00000324896 human ensembl 74_37 1 known missense c.1271 p.L424H 1 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I 0 no_errors 0 0 0 415 1 0.24 205 136 39.88 143 0 0.00 53 39 41.94 MAMDC4 0 genome.wustl.edu 37 9 139750227 139750227 + Silent SNP C C T TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 9 139750227 139750227 C T SNP MAMDC4 ENST00000445819 human ensembl 74_37 1 known silent c.1515 p.D505 0.908 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt 0 no_errors 0 0 0 17 0 0 15 6 28.57 33 0 0.00 38 16 29.63 SLC22A6 0 genome.wustl.edu 37 11 62744854 62744854 + Missense_Mutation SNP G G T TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 11 62744854 62744854 G T SNP SLC22A6 ENST00000377871 human ensembl 74_37 -1 known missense c.1367 p.T456K 0.96 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp 0 no_errors 0 0 0 11 0 0 4 6 60 67 0 0.00 36 18 33.33 OR6M1 0 genome.wustl.edu 37 11 123676667 123676667 + Missense_Mutation SNP T T C TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 11 123676667 123676667 T C SNP OR6M1 ENST00000309154 human ensembl 74_37 -1 known missense c.391 p.T131A 0.03 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn 0 no_errors 0 0 0 51 0 0 27 15 35.71 104 0 0.00 49 41 45.56 BBS10 0 genome.wustl.edu 37 12 76741446 76741446 + Missense_Mutation SNP G G A TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 12 76741446 76741446 G A SNP BBS10 ENST00000393262 human ensembl 74_37 -1 known missense c.319 p.P107S 0.051 superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom 0 no_errors 0 0 0 27 0 0 11 5 31.25 188 0 0.00 86 48 35.82 SACS 0 genome.wustl.edu 37 13 23913409 23913409 + Missense_Mutation SNP C C A TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 13 23913409 23913409 C A SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.4606 p.V1536L 0.989 superfamily_HATPase_ATP-bd pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup 0 no_errors 0 0 0 41 0 0 20 15 42.86 277 0 0.00 148 85 36.48 THAP11 0 genome.wustl.edu 37 16 67876808 67876808 + Silent SNP G G A TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 16 67876808 67876808 G A SNP THAP11 ENST00000303596 human ensembl 74_37 1 known silent c.351 p.Q117 0.946 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH 0 no_errors 0 0 0 9 0 0 17 4 19.05 11 0 0.00 11 2 15.38 SPIRE2 0 genome.wustl.edu 37 16 89936636 89936636 + Nonsense_Mutation SNP C C T TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 16 89936636 89936636 C T SNP SPIRE2 ENST00000378247 human ensembl 74_37 1 known nonsense c.2101 p.Q701* 0.997 NULL superfamily_Znf_FYVE_PHD,smart_KIND 0 no_errors 0 0 0 39 0 0 22 19 46.34 185 0 0.00 90 61 40.40 IGFLR1 0 genome.wustl.edu 37 19 36230713 36230713 + Missense_Mutation SNP G G T TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 19 36230713 36230713 G T SNP IGFLR1 ENST00000246532 human ensembl 74_37 -1 known missense c.619 p.P207T 0 NULL superfamily_DEATH-like_dom 0 no_errors 0 0 0 23 0 0 12 15 55.56 84 0 0.00 66 63 48.84 PTH2 0 genome.wustl.edu 37 19 49926534 49926534 + Silent SNP C C A TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 19 49926534 49926534 C A SNP PTH2 ENST00000270631 human ensembl 74_37 -1 known silent c.63 p.L21 0.057 NULL NULL 0 no_errors 0 0 0 80 0 0 64 14 17.95 29 0 0.00 33 6 15.38 EBF4 0 genome.wustl.edu 37 20 2730141 2730141 + Missense_Mutation SNP C C T TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 20 2730141 2730141 C T SNP EBF4 ENST00000380648 human ensembl 74_37 1 known missense c.722 p.A241V 1 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT 0 no_errors 0 0 0 39 0 0 22 20 47.62 45 0 0.00 22 21 48.84 ATP9A 0 genome.wustl.edu 37 20 50221408 50221408 + Silent SNP C C G TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 20 50221408 50221408 C G SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known silent c.2955 p.L985 1 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase 0 no_errors 0 0 0 41 0 0 26 14 35 72 0 0.00 43 20 31.75 CEP290 0 genome.wustl.edu 37 12 88512304 88512305 + Frame_Shift_Ins INS - - T TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 12 88512304 88512305 0 T INS CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_ins c.1673_1672 p.I558fs 1.000:0.983 NULL NULL 0 no_errors 0 0 0 83 0 0 69 6 8 174 2 1.14 110 5 4.35 BEGAIN 0 genome.wustl.edu 37 14 101005271 101005273 + In_Frame_Del DEL CCT CCT - TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 CCT CCT CCT - CCT CCT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 14 101005271 101005273 CCT 0 DEL BEGAIN ENST00000355173 human ensembl 74_37 -1 known in_frame_del c.817_815 p.E272in_frame_del 0.781:0.856:0.982 NULL superfamily_Prefoldin 0 no_errors 0 0 0 12 0 0 10 2 16.67 35 0 0.00 29 2 6.45 PTH2 0 genome.wustl.edu 37 19 49926530 49926531 + In_Frame_Ins INS - - CAGAAG TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 - - - CAGAAG - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 19 49926530 49926531 0 CAGAAG INS PTH2 ENST00000270631 human ensembl 74_37 -1 known in_frame_ins c.67_66 p.22in_frame_insLL 0.016:0.016 NULL NULL 0 no_errors 0 0 0 77 0 0 60 16 21.05 29 0 0.00 34 6 15.00 WASH6P 0 genome.wustl.edu 37 X 155252167 155252167 + RNA SNP C C T TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 X 155252167 155252167 C T SNP WASH6P ENST00000340131 human ensembl 74_37 1 known rna NULL NULL 0.96 0 0 0 no_errors 0 0 0 67 1 1.45 60 14 18.92 0 0 0.00 0 0 0.00 NPIPA2 0 genome.wustl.edu 37 16 14859247 14859247 + Missense_Mutation SNP C C T TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 16 14859247 14859247 C T SNP NPIPA2 ENST00000529166 human ensembl 74_37 1 novel missense c.1087 p.R363W 0.065 NULL NULL 0 no_errors 0 0 0 50 1 1.96 38 7 15.56 0 0 0.00 0 0 0.00 DSC3 0 genome.wustl.edu 37 18 28622608 28622608 + Silent SNP G G T TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 18 28622608 28622608 G T SNP DSC3 ENST00000360428 human ensembl 74_37 -1 known silent c.19 p.R7 0.02 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin 0 no_errors 0 0 0 23 0 0 24 4 14.29 8 0 0.00 9 0 0.00 BHLHE22 0 genome.wustl.edu 37 8 65493948 65493950 + In_Frame_Del DEL GGC GGC - TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 8 65493948 65493950 GGC 0 DEL BHLHE22 ENST00000321870 human ensembl 74_37 1 known in_frame_del c.601_603 p.G204in_frame_del 0.956:0.962:0.959 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom 0 no_errors 0 0 0 12 0 0 4 2 33.33 11 0 0.00 10 0 0.00 DHX33 0 genome.wustl.edu 37 17 5372037 5372039 + In_Frame_Del DEL CCT CCT - TCGA-ZB-A96C-01A-11D-A428-09 TCGA-ZB-A96C-10A-01D-A42B-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12bc7f4b-7163-4b87-93e5-69c4dc232c36 a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929 17 5372037 5372039 CCT 0 DEL DHX33 ENST00000225296 human ensembl 74_37 -1 known in_frame_del c.143_141 p.G48in_frame_del 1.000:1.000:1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C 0 no_errors 0 0 0 31 0 0 19 2 9.52 4 0 0.00 2 0 0.00