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 AGAP2-AS1 0 genome.wustl.edu 37 12 58121452 58121452 + Missense_Mutation SNP C C T TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 12 58121452 58121452 C T SNP AGAP2-AS1 ENST00000542466 human ensembl 74_37 +1 putative missense c.677 p.S226F 0.004 NULL NULL - no_errors AGAP2-AS1 HGNC ENSG00000255737 tier1 - - 50 0 0.00 305 67 17.96 25 0 0.00 151 20 11.70 UNC80 0 genome.wustl.edu 37 2 210642248 210642248 + Missense_Mutation SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 2 210642248 210642248 G A SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.565 p.V189M 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 - - 46 0 0.00 21 11 34.38 116 0 0.00 47 48 50.53 FZD6 0 genome.wustl.edu 37 8 104336784 104336784 + Silent SNP A A G TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 8 104336784 104336784 A G SNP FZD6 ENST00000358755 human ensembl 74_37 +1 known silent c.450 p.T150 0.991 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 tier1 - - 43 0 0.00 75 23 23.47 51 0 0.00 46 12 20.69 IFNG 0 genome.wustl.edu 37 12 68551748 68551748 + Missense_Mutation SNP A A T TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 12 68551748 68551748 A T SNP IFNG ENST00000229135 human ensembl 74_37 -1 known missense c.311 p.F104Y 0.086 pfam_Interferon_gamma,superfamily_4_helix_cytokine-like_core,pirsf_Interferon_gamma pfam_Interferon_gamma,superfamily_4_helix_cytokine-like_core,pirsf_Interferon_gamma - no_errors IFNG HGNC ENSG00000111537 tier1 - - 42 0 0.00 46 24 34.29 43 0 0.00 53 39 42.39 ANTXR2 0 genome.wustl.edu 37 4 80828146 80828146 + R SNP A A C TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 4 80828146 80828146 A C SNP ANTXR2 ENST00000482406 human ensembl 74_37 -1 known rna NULL NULL 0.407 - - - no_errors ANTXR2 HGNC ENSG00000163297 tier1 - - 11 0 0.00 15 11 42.31 55 0 0.00 45 45 50.00 FHOD3 0 genome.wustl.edu 37 18 34297864 34297864 + Missense_Mutation SNP G G T TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 18 34297864 34297864 G T SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.2078 p.R693L 1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 tier1 - - 26 0 0.00 49 38 43.68 115 0 0.00 58 43 42.57 MYH4 0 genome.wustl.edu 37 17 10367818 10367818 + Missense_Mutation SNP T T C TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 17 10367818 10367818 T C SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.619 p.K207E 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tR-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 tier1 - - 28 0 0.00 37 12 24.49 19 0 0.00 26 12 31.58 SLC22A15 0 genome.wustl.edu 37 1 116574007 116574007 + Missense_Mutation SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 1 116574007 116574007 G A SNP SLC22A15 ENST00000369503 human ensembl 74_37 +1 known missense c.749 p.R250H 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A15 HGNC ENSG00000163393 tier1 - - 21 0 0.00 25 12 32.43 41 0 0.00 40 36 47.37 POGZ 0 genome.wustl.edu 37 1 151384810 151384810 + Missense_Mutation SNP C C T TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 1 151384810 151384810 C T SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.1741 p.D581N 1.000 smart_Znf_C2H2-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_D-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_D-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 tier1 - - 19 0 0.00 37 23 38.33 70 0 0.00 93 30 24.39 OR10T2 0 genome.wustl.edu 37 1 158368481 158368481 + Missense_Mutation SNP T T C TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 1 158368481 158368481 T C SNP OR10T2 ENST00000334438 human ensembl 74_37 -1 known missense c.776 p.Y259C 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10T2 HGNC ENSG00000186306 tier1 rs139047952 - 19 0 0.00 30 22 42.31 58 0 0.00 45 39 45.88 TTC29 0 genome.wustl.edu 37 4 147628647 147628647 + Missense_Mutation SNP C C T TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 4 147628647 147628647 C T SNP TTC29 ENST00000398886 human ensembl 74_37 -1 known missense c.1465 p.E489K 0.128 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC29 HGNC ENSG00000137473 tier1 - - 31 0 0.00 67 25 27.17 27 0 0.00 46 42 47.73 MYO16 0 genome.wustl.edu 37 13 109438081 109438081 + Silent SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 13 109438081 109438081 G A SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.540 p.L180 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 - - 13 0 0.00 26 21 44.68 75 0 0.00 60 30 33.33 GTF2H1 0 genome.wustl.edu 37 11 18369142 18369142 + Missense_Mutation SNP G G C TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 11 18369142 18369142 G C SNP GTF2H1 ENST00000265963 human ensembl 74_37 +1 known missense c.845 p.G282A 1.000 NULL pfam_BSD,pfam_TFIIH_BTF_p62_N,smart_BSD,pfscan_BSD - no_errors GTF2H1 HGNC ENSG00000110768 tier1 - - 26 0 0.00 24 6 20.00 21 0 0.00 48 7 12.73 GPR98 0 genome.wustl.edu 37 5 90106134 90106134 + Silent SNP T T C TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 5 90106134 90106134 T C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known silent c.15057 p.D5019 0.010 pfam_Calx_beta,smart_Calx_beta 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 - - 39 0 0.00 46 18 28.12 50 0 0.00 52 35 40.23 INPP5F 0 genome.wustl.edu 37 10 121565903 121565903 + Missense_Mutation SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 10 121565903 121565903 G A SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known missense c.1351 p.E451K 1.000 pfscan_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 tier1 - - 30 0 0.00 50 10 16.67 110 0 0.00 110 22 16.67 AGAP2 0 genome.wustl.edu 37 12 58121737 58121737 + Missense_Mutation SNP C C T TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 12 58121737 58121737 C T SNP AGAP2 ENST00000547588 human ensembl 74_37 -1 known missense c.2749 p.E917K 1.000 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP2 HGNC ENSG00000135439 tier1 - - 39 0 0.00 194 46 19.17 104 0 0.00 496 100 16.75 HSD17B1 0 genome.wustl.edu 37 17 40705302 40705302 + Silent SNP C C T TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 17 40705302 40705302 C T SNP HSD17B1 ENST00000585807 human ensembl 74_37 +1 known silent c.258 p.D86 0.997 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B1 HGNC ENSG00000108786 tier1 - - 112 1 0.88 51 40 43.96 34 0 0.00 14 6 30.00 EARS2 0 genome.wustl.edu 37 16 23540873 23540873 + Missense_Mutation SNP C C A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 16 23540873 23540873 C A SNP EARS2 ENST00000449606 human ensembl 74_37 -1 known missense c.1302 p.Q434H 1.000 superfamily_aa-tR-synth_I_codon-bd,tigrfam_Glu-tR-ligase_bac/mito pfam_Glu/Gln-tR-synth_Ib_cat-dom,superfamily_aa-tR-synth_I_codon-bd,prints_Glu/Gln-tR-synth,tigrfam_Glu-tR-ligase_bac/mito - no_errors EARS2 HGNC ENSG00000103356 tier1 - - 29 0 0.00 42 11 20.75 44 0 0.00 53 9 14.52 ATP11B 0 genome.wustl.edu 37 3 182583358 182583358 + Missense_Mutation SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 3 182583358 182583358 G A SNP ATP11B ENST00000323116 human ensembl 74_37 +1 known missense c.1315 p.E439K 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,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 - no_errors ATP11B HGNC ENSG00000058063 tier1 - - 20 0 0.00 77 15 16.30 40 0 0.00 66 22 24.72 DMXL1 0 genome.wustl.edu 37 5 118539113 118539113 + Silent SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 5 118539113 118539113 G A SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known silent c.7845 p.K2615 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 tier1 - - 29 0 0.00 121 27 18.24 50 0 0.00 78 14 15.22 MYO5C 0 genome.wustl.edu 37 15 52497276 52497276 + Missense_Mutation SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 15 52497276 52497276 G A SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.4606 p.R1536C 1.000 pfscan_Dilute pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 tier1 - - 17 0 0.00 23 16 41.03 25 0 0.00 24 15 38.46 C14orf37 0 genome.wustl.edu 37 14 58604835 58604835 + Missense_Mutation SNP C C G TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 14 58604835 58604835 C G SNP C14orf37 ENST00000267485 human ensembl 74_37 -1 known missense c.1242 p.L414F 0.002 NULL NULL - no_errors C14orf37 HGNC ENSG00000139971 tier1 - - 44 0 0.00 49 12 19.67 119 1 0.83 74 13 14.77 CADM4 0 genome.wustl.edu 37 19 44130154 44130154 + Splice_Site SNP C C G TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 19 44130154 44130154 C G SNP CADM4 ENST00000222374 human ensembl 74_37 -1 known splice_site c.665-1 e6-1 1.000 - - - no_errors CADM4 HGNC ENSG00000105767 tier1 - - 43 0 0.00 42 12 22.22 99 1 1.00 51 14 21.54 SSPO 0 genome.wustl.edu 37 7 149493130 149493130 + R SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 7 149493130 149493130 G A SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 30 0 0.00 36 16 30.77 69 0 0.00 41 22 34.92 FKBP10 0 genome.wustl.edu 37 17 39973444 39973444 + Missense_Mutation SNP G G T TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 17 39973444 39973444 G T SNP FKBP10 ENST00000321562 human ensembl 74_37 +1 known missense c.380 p.S127I 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 tier1 - - 16 0 0.00 8 7 46.67 21 0 0.00 13 5 27.78 CILP 0 genome.wustl.edu 37 15 65499236 65499236 + Missense_Mutation SNP C C A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 15 65499236 65499236 C A SNP CILP ENST00000261883 human ensembl 74_37 -1 known missense c.308 p.G103V 0.001 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 tier1 - - 20 0 0.00 15 7 31.82 37 0 0.00 18 10 35.71 TTN 0 genome.wustl.edu 37 2 179429737 179429737 + Missense_Mutation SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 2 179429737 179429737 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.73418 p.T24473M 0.209 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 29 0 0.00 39 19 32.76 78 0 0.00 92 37 28.46 LGR5 0 genome.wustl.edu 37 12 71955560 71955560 + Splice_Site SNP G G C TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 12 71955560 71955560 G C SNP LGR5 ENST00000266674 human ensembl 74_37 +1 known splice_site c.786-1 e8-1 1.000 - - - no_errors LGR5 HGNC ENSG00000139292 tier1 - - 33 0 0.00 117 384 76.49 29 0 0.00 101 321 75.89 ATRX 0 genome.wustl.edu 37 X 76890194 76890194 + Missense_Mutation SNP C C T TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed X 76890194 76890194 C T SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.4700 p.G1567D 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd 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 - - 15 0 0.00 14 34 70.83 47 0 0.00 22 43 66.15 UBTF 0 genome.wustl.edu 37 17 42290278 42290278 + Missense_Mutation SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 17 42290278 42290278 G A SNP UBTF ENST00000302904 human ensembl 74_37 -1 known missense c.569 p.A190V 1.000 superfamily_ARM-type_fold pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors UBTF HGNC ENSG00000108312 tier1 - - 59 0 0.00 35 26 42.62 208 0 0.00 58 34 36.96 MPZL1 0 genome.wustl.edu 37 1 167691169 167691169 + R SNP G G C TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 1 167691169 167691169 G C SNP MPZL1 ENST00000487858 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors MPZL1 HGNC ENSG00000197965 tier1 - - 33 0 0.00 13 10 43.48 45 0 0.00 16 9 36.00 TMPRSS3 0 genome.wustl.edu 37 21 43815480 43815480 + Missense_Mutation SNP C C T TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 21 43815480 43815480 C T SNP TMPRSS3 ENST00000380399 human ensembl 74_37 -1 known missense c.299 p.R100Q 0.958 NULL pfam_Peptidase_S1,pfam_SRCR,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS3 HGNC ENSG00000160183 tier1 - - 32 0 0.00 47 14 22.95 90 0 0.00 64 25 28.09 PHTF1 0 genome.wustl.edu 37 1 114281367 114281367 + Missense_Mutation SNP C C T TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 1 114281367 114281367 C T SNP PHTF1 ENST00000369604 human ensembl 74_37 -1 known missense c.157 p.V53I 1.000 pfam_TF_homeodomain_male pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 tier1 - - 61 0 0.00 84 53 38.69 67 0 0.00 73 43 37.07 ENSG00000167765 0 genome.wustl.edu 37 19 52097498 52097498 + Missense_Mutation SNP T T G TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 19 52097498 52097498 T G SNP ENSG00000167765 ENST00000301439 human ensembl 74_37 -1 known missense c.77 p.N26T 0.002 NULL NULL - no_errors AC018755.1 Clone_based_ensembl_gene ENSG00000167765 tier1 - - 53 0 0.00 16 16 50.00 131 0 0.00 42 26 38.24 WDR96 0 genome.wustl.edu 37 10 105944776 105944776 + Nonsense_Mutation SNP C C T TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 10 105944776 105944776 C T SNP WDR96 ENST00000357060 human ensembl 74_37 -1 known nonsense c.2139 p.W713* 1.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC ENSG00000197748 tier1 - - 34 0 0.00 15 7 31.82 83 0 0.00 75 17 18.48 EMX2 0 genome.wustl.edu 37 10 119307608 119307608 + Missense_Mutation SNP G G T TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 10 119307608 119307608 G T SNP EMX2 ENST00000553456 human ensembl 74_37 +1 known missense c.624 p.K208N 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors EMX2 HGNC ENSG00000170370 tier1 - - 34 0 0.00 30 11 26.83 135 0 0.00 55 11 16.67 NR2C1 0 genome.wustl.edu 37 12 95434360 95434360 + Missense_Mutation SNP G G C TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 12 95434360 95434360 G C SNP NR2C1 ENST00000333003 human ensembl 74_37 -1 known missense c.1145 p.S382C 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C1 HGNC ENSG00000120798 tier1 - - 59 0 0.00 112 55 32.93 76 0 0.00 121 56 31.64 CD58 0 genome.wustl.edu 37 1 117087035 117087035 + Missense_Mutation SNP C C T TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 1 117087035 117087035 C T SNP CD58 ENST00000369489 human ensembl 74_37 -1 known missense c.262 p.G88S 0.056 NULL NULL - no_errors CD58 HGNC ENSG00000116815 tier1 - - 31 0 0.00 50 23 31.51 42 0 0.00 70 17 19.54 TMEM40 0 genome.wustl.edu 37 3 12778114 12778114 + Silent SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 3 12778114 12778114 G A SNP TMEM40 ENST00000431022 human ensembl 74_37 -1 known silent c.630 p.F210 0.899 NULL NULL - no_errors TMEM40 HGNC ENSG00000088726 tier1 rs199796616 GMAF=0.0005 55 0 0.00 55 27 32.93 50 0 0.00 40 33 45.21 TTLL5 0 genome.wustl.edu 37 14 76330059 76330059 + Missense_Mutation SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 14 76330059 76330059 G A SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known missense c.3376 p.V1126M 0.839 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 tier1 - - 33 0 0.00 32 20 38.46 78 0 0.00 50 13 20.63 PTCH1 0 genome.wustl.edu 37 9 98239127 98239127 + Missense_Mutation SNP G G C TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 9 98239127 98239127 G C SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.1516 p.L506V 1.000 pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 tier1 - - 21 0 0.00 50 27 35.06 99 0 0.00 94 34 26.15 DYNC1LI2 0 genome.wustl.edu 37 16 66785214 66785214 + Missense_Mutation SNP C C A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 16 66785214 66785214 C A SNP DYNC1LI2 ENST00000258198 human ensembl 74_37 -1 known missense c.143 p.R48M 1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI2 HGNC ENSG00000135720 tier1 - - 107 0 0.00 100 23 18.70 70 0 0.00 32 11 25.58 NEUROG1 0 genome.wustl.edu 37 5 134871035 134871035 + Missense_Mutation SNP G G C TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 5 134871035 134871035 G C SNP NEUROG1 ENST00000314744 human ensembl 74_37 -1 known missense c.346 p.R116G 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG1 HGNC ENSG00000181965 tier1 - - 70 0 0.00 29 28 49.12 40 0 0.00 11 14 56.00 FBLN2 0 genome.wustl.edu 37 3 13612954 13612954 + Missense_Mutation SNP C C T TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 3 13612954 13612954 C T SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known missense c.1099 p.L367F 0.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 tier1 - - 53 0 0.00 25 15 37.50 75 0 0.00 31 27 46.55 ENSG00000231345 0 genome.wustl.edu 37 10 52419299 52419299 + R SNP C C T TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 10 52419299 52419299 C T SNP ENSG00000231345 ENST00000449695 human ensembl 74_37 +1 known rna NULL NULL 0.814 - - - no_errors RP11-564C4.6 Clone_based_vega_gene ENSG00000231345 tier1 - - 18 0 0.00 7 7 50.00 19 0 0.00 6 6 50.00 KIAA1161 0 genome.wustl.edu 37 9 34371506 34371506 + Missense_Mutation SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 9 34371506 34371506 G A SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known missense c.1334 p.P445L 0.994 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 tier1 - - 28 0 0.00 6 10 62.50 6 0 0.00 5 9 64.29 PRAMEF2 0 genome.wustl.edu 37 1 12919081 12919081 + Missense_Mutation SNP C C A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 1 12919081 12919081 C A SNP PRAMEF2 ENST00000240189 human ensembl 74_37 +1 known missense c.217 p.L73I 0.084 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 tier1 - - 54 0 0.00 64 30 31.91 11 0 0.00 7 4 33.33 STAG3L1 0 genome.wustl.edu 37 7 74988500 74988500 + R SNP C C T TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 7 74988500 74988500 C T SNP STAG3L1 ENST00000402225 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors STAG3L1 HGNC ENSG00000205583 tier1 - - 35 0 0.00 18 9 33.33 8 0 0.00 1 3 75.00 UBR2 0 genome.wustl.edu 37 6 42583771 42583771 + Missense_Mutation SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 6 42583771 42583771 G A SNP UBR2 ENST00000372899 human ensembl 74_37 +1 known missense c.1125 p.M375I 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 tier1 - - 43 0 0.00 102 9 8.11 32 0 0.00 75 8 9.64 UBR2 0 genome.wustl.edu 37 6 42583818 42583818 + Missense_Mutation SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 6 42583818 42583818 G A SNP UBR2 ENST00000372899 human ensembl 74_37 +1 known missense c.1172 p.R391Q 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 tier1 - - 40 0 0.00 80 12 13.04 30 0 0.00 69 4 5.48 UBR2 0 genome.wustl.edu 37 6 42583801 42583801 + Silent SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 6 42583801 42583801 G A SNP UBR2 ENST00000372899 human ensembl 74_37 +1 known silent c.1155 p.K385 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 tier1 - - 44 0 0.00 91 11 10.78 29 0 0.00 71 6 7.79 CBFA2T3 0 genome.wustl.edu 37 16 88952543 88952543 + Frame_Shift_Del DEL A A - TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 16 88952543 88952543 A - DEL CBFA2T3 ENST00000268679 human ensembl 74_37 -1 known frame_shift_del c.719 p.L240fs 1.000 pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1 pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 tier1 86 0 0.00 17 2 10.53 35 0 0.00 7 0 0.00 CREBBP 0 genome.wustl.edu 37 16 3779184 3779184 + Missense_Mutation SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 16 3779184 3779184 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.5864 p.A1955V 0.998 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 tier1 - - 29 0 0.00 9 3 25.00 6 0 0.00 6 0 0.00 DSCR3 0 genome.wustl.edu 37 21 38639762 38639763 + R INS - - C TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 21 38639762 38639763 - C INS DSCR3 ENST00000399000 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors DSCR3 HGNC ENSG00000157538 tier1 17 0 0.00 6 3 33.33 5 0 0.00 3 0 0.00 ATP13A4-AS1 0 genome.wustl.edu 37 3 193272443 193272450 + R DEL GTGTGTGT GTGTGTGT - TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 GTGTGTGT GTGTGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 3 193272443 193272450 GTGTGTGT - DEL ATP13A4-AS1 ENST00000426459 human ensembl 74_37 +1 known rna NULL NULL 0.004:0.003:0.002:0.001:0.019:0.004:0.002:0.000 - - - no_errors ATP13A4-AS1 HGNC ENSG00000225473 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000267075 0 genome.wustl.edu 37 17 20450947 20450947 + R SNP T T A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 17 20450947 20450947 T A SNP ENSG00000267075 ENST00000591705 human ensembl 74_37 +1 known rna NULL NULL 0.025 - - - no_errors RP11-434D2.3 Clone_based_vega_gene ENSG00000267075 tier1 - - 41 0 0.00 39 10 20.41 0 0 0.00 0 0 0.00 LOC100508046 0 genome.wustl.edu 37 14 20010310 20010310 + R SNP A A G TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 14 20010310 20010310 A G SNP LOC100508046 ENST00000547584 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-244H18.1 Clone_based_vega_gene ENSG00000258276 tier1 rs199892710 - 9 0 0.00 15 7 31.82 3 0 0.00 6 1 14.29 TBC1D30 0 genome.wustl.edu 37 12 65175020 65175020 + Silent SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 12 65175020 65175020 G A SNP TBC1D30 ENST00000229088 human ensembl 74_37 +1 known silent c.432 p.Q144 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D30 HGNC ENSG00000111490 tier1 - - 11 0 0.00 3 5 62.50 2 0 0.00 1 0 0.00 PPP2R1B 0 genome.wustl.edu 37 11 111631590 111631590 + Missense_Mutation SNP G G T TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 11 111631590 111631590 G T SNP PPP2R1B ENST00000311129 human ensembl 74_37 -1 known missense c.492 p.S164R 0.988 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1B HGNC ENSG00000137713 tier1 - - 34 0 0.00 29 4 12.12 83 0 0.00 53 2 3.64 ENSG00000250910 0 genome.wustl.edu 37 4 156289996 156289996 + R DEL A A - TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2df266d0-ca15-4a97-9700-785c81b14aba ff026b1d-93bb-4334-9949-690d71a376ed 4 156289996 156289996 A - DEL ENSG00000250910 ENST00000597831 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC097467.2 Clone_based_vega_gene ENSG00000250910 tier1 31 0 0.00 18 4 18.18 88 0 0.00 66 2 2.94