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 GPR98 0 genome.wustl.edu 37 5 90106396 90106396 + Missense_Mutation SNP G G A TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 5 90106396 90106396 G A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.15319 p.V5107I 0.007 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 18 0 0.00 20 16 44.44 84 0 0.00 45 48 51.61 RPA1 0 genome.wustl.edu 37 17 1782517 1782517 + Nonsense_Mutation SNP T T A TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 17 1782517 1782517 T A SNP RPA1 ENST00000254719 human ensembl 74_37 +1 known nonsense c.768 p.Y256* 0.989 pfam_-bd_OB_tR,superfamily_-bd_OB-fold,tigrfam_Rep_factor_Rpa1 pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_-bd_OB_tR,superfamily_-bd_OB-fold,tigrfam_Rep_factor_Rpa1 - no_errors RPA1 HGNC ENSG00000132383 tier1 - - 23 0 0.00 8 23 74.19 105 0 0.00 51 42 45.16 ZNF285 0 genome.wustl.edu 37 19 44891263 44891263 + Missense_Mutation SNP C C A TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 19 44891263 44891263 C A SNP ZNF285 ENST00000330997 human ensembl 74_37 -1 known missense c.1144 p.D382Y 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,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 ZNF285 HGNC ENSG00000267508 tier1 - - 90 0 0.00 48 47 49.47 40 0 0.00 21 25 54.35 TMPRSS11D 0 genome.wustl.edu 37 4 68708322 68708322 + Missense_Mutation SNP A A T TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 4 68708322 68708322 A T SNP TMPRSS11D ENST00000283916 human ensembl 74_37 -1 known missense c.271 p.S91T 0.757 pirsf_Pept_S1A_HAT/DESC1,pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_SEA_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11D HGNC ENSG00000153802 tier1 - - 18 0 0.00 46 9 16.36 73 0 0.00 45 16 26.23 SFXN2 0 genome.wustl.edu 37 10 104497506 104497506 + Missense_Mutation SNP A A G TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 10 104497506 104497506 A G SNP SFXN2 ENST00000369893 human ensembl 74_37 +1 known missense c.956 p.N319S 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN2 HGNC ENSG00000156398 tier1 rs201424155 GMAF=0.0005 29 0 0.00 28 29 50.88 74 0 0.00 50 40 44.44 CREB3L3 0 genome.wustl.edu 37 19 4171147 4171147 + Missense_Mutation SNP C C T TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 19 4171147 4171147 C T SNP CREB3L3 ENST00000078445 human ensembl 74_37 +1 known missense c.950 p.S317L 0.925 NULL pfam_bZIP,superfamily_TF_D-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L3 HGNC ENSG00000060566 tier1 - - 40 0 0.00 33 35 51.47 62 0 0.00 20 12 37.50 PSMD3 0 genome.wustl.edu 37 17 38146359 38146359 + Missense_Mutation SNP C C G TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 17 38146359 38146359 C G SNP PSMD3 ENST00000264639 human ensembl 74_37 +1 known missense c.890 p.A297G 1.000 smart_PAM pfam_26S_Psome_reg_C,pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors PSMD3 HGNC ENSG00000108344 tier1 - - 53 0 0.00 45 35 43.75 80 1 1.23 36 37 50.68 OR5P2 0 genome.wustl.edu 37 11 7817816 7817816 + Missense_Mutation SNP C C T TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 11 7817816 7817816 C T SNP OR5P2 ENST00000329434 human ensembl 74_37 -1 known missense c.674 p.R225H 0.435 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 OR5P2 HGNC ENSG00000183303 tier1 - - 37 0 0.00 30 27 46.55 67 0 0.00 51 38 42.70 SETX 0 genome.wustl.edu 37 9 135202975 135202975 + Missense_Mutation SNP C C A TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 9 135202975 135202975 C A SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.4010 p.R1337I 0.923 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 tier1 - - 29 0 0.00 45 38 45.78 51 0 0.00 36 25 40.32 OTX1 0 genome.wustl.edu 37 2 63283301 63283301 + Silent SNP T T A TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 2 63283301 63283301 T A SNP OTX1 ENST00000282549 human ensembl 74_37 +1 known silent c.915 p.G305 0.997 NULL pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx1_TF,prints_Otx_TF - no_errors OTX1 HGNC ENSG00000115507 tier1 - - 41 0 0.00 33 29 46.77 23 0 0.00 13 9 40.91 CPEB1 0 genome.wustl.edu 37 15 83297194 83297194 + Missense_Mutation SNP G G C TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 15 83297194 83297194 G C SNP CPEB1 ENST00000563800 human ensembl 74_37 -1 putative missense c.17 p.A6G 0.118 NULL pfscan_RRM_dom - no_errors CPEB1 HGNC ENSG00000214575 tier1 - - 13 0 0.00 7 16 69.57 45 0 0.00 29 27 48.21 ZNF589 0 genome.wustl.edu 37 3 48309726 48309726 + Missense_Mutation SNP A A G TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 3 48309726 48309726 A G SNP ZNF589 ENST00000354698 human ensembl 74_37 +1 known missense c.545 p.N182S 0.048 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF589 HGNC ENSG00000164048 tier1 - - 21 0 0.00 20 15 42.86 60 0 0.00 38 34 47.22 UGT2B11 0 genome.wustl.edu 37 4 70079967 70079967 + Missense_Mutation SNP C C A TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 4 70079967 70079967 C A SNP UGT2B11 ENST00000446444 human ensembl 74_37 -1 known missense c.474 p.E158D 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B11 HGNC ENSG00000213759 tier1 - - 94 0 0.00 72 59 45.04 36 0 0.00 23 29 55.77 CHD9 0 genome.wustl.edu 37 16 53302010 53302010 + Silent SNP A A G TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 16 53302010 53302010 A G SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known silent c.4689 p.G1563 0.922 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 tier1 - - 20 0 0.00 8 13 61.90 90 0 0.00 48 44 47.83 VWF 0 genome.wustl.edu 37 12 6184682 6184682 + Silent SNP G G A TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 12 6184682 6184682 G A SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.693 p.T231 0.136 pirsf_VWF,pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 - - 62 0 0.00 41 32 43.84 35 0 0.00 28 18 39.13 HERC2P3 0 genome.wustl.edu 37 15 20657785 20657785 + R SNP A A T TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 15 20657785 20657785 A T SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 tier1 - - 263 1 0.38 236 109 31.59 35 0 0.00 32 8 20.00 YWHAG 0 genome.wustl.edu 37 7 75958930 75958930 + Silent SNP G G A TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 7 75958930 75958930 G A SNP YWHAG ENST00000307630 human ensembl 74_37 -1 known silent c.708 p.D236 0.728 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAG HGNC ENSG00000170027 tier1 - - 29 0 0.00 24 26 52.00 29 0 0.00 24 12 33.33 KRT27 0 genome.wustl.edu 37 17 38935802 38935802 + Silent SNP T T C TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 17 38935802 38935802 T C SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known silent c.924 p.K308 0.999 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 tier1 - - 49 0 0.00 29 24 45.28 63 0 0.00 41 44 51.16 HPCA 0 genome.wustl.edu 37 1 33359548 33359548 + R SNP G G A TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 1 33359548 33359548 G A SNP HPCA ENST00000459874 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HPCA HGNC ENSG00000121905 tier1 - - 19 0 0.00 10 13 56.52 51 0 0.00 33 10 23.26 DJC1 0 genome.wustl.edu 37 10 22048139 22048139 + Missense_Mutation SNP C C T TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 10 22048139 22048139 C T SNP DJC1 ENST00000376980 human ensembl 74_37 -1 known missense c.1556 p.R519H 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DJC1 HGNC ENSG00000136770 tier1 - - 37 0 0.00 20 15 42.86 69 0 0.00 40 22 35.48 WBP11P1 0 genome.wustl.edu 37 18 30093484 30093484 + R SNP A A T TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 18 30093484 30093484 A T SNP WBP11P1 ENST00000567636 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WBP11P1 HGNC ENSG00000260389 tier1 - - 28 0 0.00 25 19 43.18 52 0 0.00 37 27 42.19 MAP7D1 0 genome.wustl.edu 37 1 36636667 36636667 + Missense_Mutation SNP C C G TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 1 36636667 36636667 C G SNP MAP7D1 ENST00000373151 human ensembl 74_37 +1 known missense c.142 p.P48A 1.000 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 tier1 - - 78 0 0.00 63 67 51.54 59 0 0.00 34 29 46.03 CELF4 0 genome.wustl.edu 37 18 34825066 34825066 + R SNP G G T TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 18 34825066 34825066 G T SNP CELF4 ENST00000590011 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CELF4 HGNC ENSG00000101489 tier1 - - 8 0 0.00 7 8 53.33 24 0 0.00 6 6 50.00 MUM1L1 0 genome.wustl.edu 37 X 105451169 105451169 + Missense_Mutation SNP T T C TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a X 105451169 105451169 T C SNP MUM1L1 ENST00000337685 human ensembl 74_37 +1 known missense c.1744 p.W582R 0.999 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MUM1L1 HGNC ENSG00000157502 tier1 - - 18 0 0.00 0 23 100.00 48 0 0.00 6 36 85.71 CAC1A 0 genome.wustl.edu 37 19 13318673 13318678 + In_Frame_Del DEL CTGCTG CTGCTG - TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 CTGCTG CTGCTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 19 13318673 13318678 CTGCTG - DEL CAC1A ENST00000360228 human ensembl 74_37 -1 known in_frame_del c.6975_6970 p.QQ2324in_frame_del 0.259:0.316:0.374:0.432:0.459:0.497 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CAC1A HGNC ENSG00000141837 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 SPDYE2B 0 genome.wustl.edu 37 7 102294074 102294074 + Missense_Mutation SNP T T C TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 7 102294074 102294074 T C SNP SPDYE2B ENST00000436228 human ensembl 74_37 +1 known missense c.337 p.S113P 0.002 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE2B HGNC ENSG00000173678 tier1 - - 8 0 0.00 6 4 40.00 0 0 0.00 0 0 0.00 ENSG00000225946 0 genome.wustl.edu 37 7 100608123 100608124 + R INS - - G TCGA-WK-A8XQ-01A-11D-A37C-09 TCGA-WK-A8XQ-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a362ed3c-3c06-4aad-8b9e-a4b46b4cbcd3 779e9645-be20-45ce-842e-6224726c5e5a 7 100608123 100608124 - G INS ENSG00000225946 ENST00000420080 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.037 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000225946 tier1 12 0 0.00 12 7 36.84 87 0 0.00 84 2 2.33