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 FBN1 0 genome.wustl.edu 37 15 48780437 48780437 + Silent SNP G G A TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 15 48780437 48780437 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known silent c.3210 p.D1070 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 tier1 - - 68 0 0.00 32 24 42.86 85 0 0.00 60 46 43.40 ADAM22 0 genome.wustl.edu 37 7 87797524 87797524 + Missense_Mutation SNP T T C TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 7 87797524 87797524 T C SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known missense c.2264 p.I755T 0.986 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 tier1 - - 75 0 0.00 31 18 36.00 124 0 0.00 103 72 41.14 ING2 0 genome.wustl.edu 37 4 184431587 184431587 + Missense_Mutation SNP G G A TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 4 184431587 184431587 G A SNP ING2 ENST00000302327 human ensembl 74_37 +1 known missense c.325 p.E109K 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING2 HGNC ENSG00000168556 tier1 - - 34 0 0.00 23 11 32.35 140 0 0.00 102 54 34.39 FDPS 0 genome.wustl.edu 37 1 155288023 155288023 + Missense_Mutation SNP C C G TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 1 155288023 155288023 C G SNP FDPS ENST00000356657 human ensembl 74_37 +1 known missense c.625 p.L209V 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 tier1 - - 64 0 0.00 26 17 39.53 33 0 0.00 12 16 57.14 KDM3A 0 genome.wustl.edu 37 2 86693527 86693527 + Missense_Mutation SNP C C T TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 2 86693527 86693527 C T SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known missense c.1040 p.S347F 0.987 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 tier1 - - 96 0 0.00 31 54 63.53 86 0 0.00 57 83 58.87 NPAP1 0 genome.wustl.edu 37 15 24922764 24922764 + Missense_Mutation SNP T T C TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 15 24922764 24922764 T C SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.1750 p.S584P 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 - - 36 0 0.00 32 8 20.00 122 0 0.00 107 14 11.57 PRR12 0 genome.wustl.edu 37 19 50100901 50100901 + Silent SNP G G A TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 19 50100901 50100901 G A SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel silent c.3309 p.A1103 0.240 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 tier1 - - 10 0 0.00 10 4 28.57 16 0 0.00 11 15 55.56 OR2T33 0 genome.wustl.edu 37 1 248436695 248436695 + Missense_Mutation SNP C C T TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 1 248436695 248436695 C T SNP OR2T33 ENST00000318021 human ensembl 74_37 -1 known missense c.422 p.R141K 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 OR2T33 HGNC ENSG00000177212 tier1 rs71642437 - 259 0 0.00 161 42 20.69 126 0 0.00 122 28 18.67 VTCN1 0 genome.wustl.edu 37 1 117690386 117690386 + Missense_Mutation SNP C C T TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 1 117690386 117690386 C T SNP VTCN1 ENST00000359008 human ensembl 74_37 -1 known missense c.752 p.R251Q 0.962 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VTCN1 HGNC ENSG00000134258 tier1 - - 90 0 0.00 35 12 25.53 99 0 0.00 52 40 43.01 CHTOP 0 genome.wustl.edu 37 1 153615716 153615716 + Silent SNP C C T TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 1 153615716 153615716 C T SNP CHTOP ENST00000368694 human ensembl 74_37 +1 known silent c.417 p.L139 1.000 NULL NULL - no_errors CHTOP HGNC ENSG00000160679 tier1 - - 65 0 0.00 42 19 30.65 95 0 0.00 74 40 35.09 RGSL1 0 genome.wustl.edu 37 1 182458326 182458326 + Missense_Mutation SNP T T A TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 1 182458326 182458326 T A SNP RGSL1 ENST00000294854 human ensembl 74_37 +1 known missense c.1706 p.V569E 0.981 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam - no_errors RGSL1 HGNC ENSG00000121446 tier1 - - 37 0 0.00 24 11 31.43 75 0 0.00 102 33 24.44 TECPR2 0 genome.wustl.edu 37 14 102898417 102898417 + Missense_Mutation SNP G G C TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 14 102898417 102898417 G C SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known missense c.1369 p.V457L 0.040 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 tier1 - - 48 0 0.00 36 5 12.20 16 0 0.00 23 3 11.54 LOC653786 0 genome.wustl.edu 37 16 22580493 22580493 + R SNP A A T TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 16 22580493 22580493 A T SNP LOC653786 ENST00000550753 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-368J21.3 Clone_based_vega_gene ENSG00000257838 tier1 - - 89 0 0.00 45 10 18.18 107 0 0.00 81 19 18.81 EMX1 0 genome.wustl.edu 37 2 73160999 73160999 + Silent SNP G G A TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 2 73160999 73160999 G A SNP EMX1 ENST00000258106 human ensembl 74_37 +1 known silent c.789 p.K263 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors EMX1 HGNC ENSG00000135638 tier1 - - 54 0 0.00 26 5 16.13 102 0 0.00 50 15 23.08 PFKP 0 genome.wustl.edu 37 10 3146134 3146134 + Missense_Mutation SNP G G C TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 10 3146134 3146134 G C SNP PFKP ENST00000381125 human ensembl 74_37 +1 known missense c.618 p.Q206H 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 tier1 - - 29 0 0.00 9 11 55.00 46 0 0.00 26 6 18.75 MYOM2 0 genome.wustl.edu 37 8 2044184 2044184 + Silent SNP C C A TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 8 2044184 2044184 C A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.2223 p.P741 0.325 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 tier1 - - 64 0 0.00 32 26 44.83 101 0 0.00 59 39 39.80 MAGED1 0 genome.wustl.edu 37 X 51639866 51639866 + Missense_Mutation SNP T T A TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 X 51639866 51639866 T A SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known missense c.1283 p.L428Q 0.102 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 tier1 - - 116 0 0.00 214 37 14.74 64 0 0.00 165 26 13.61 OR7A5 0 genome.wustl.edu 37 19 14939050 14939050 + Nonsense_Mutation SNP C C A TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 19 14939050 14939050 C A SNP OR7A5 ENST00000322301 human ensembl 74_37 -1 known nonsense c.4 p.E2* 0.810 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7A5 HGNC ENSG00000188269 tier1 - - 101 0 0.00 62 50 44.64 82 0 0.00 59 52 46.85 PKHD1L1 0 genome.wustl.edu 37 8 110412352 110412352 + Missense_Mutation SNP C C A TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 8 110412352 110412352 C A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.1060 p.R354S 0.888 superfamily_Ig_E-set,smart_IPT,smart_PA14 pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 106 0 0.00 42 39 48.15 111 0 0.00 61 33 34.38 FGFR1 0 genome.wustl.edu 37 8 38285564 38285564 + Missense_Mutation SNP G G A TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 8 38285564 38285564 G A SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known missense c.589 p.H197Y 1.000 pirsf_FGF_rcpt_fam,smart_Ig_sub,pfscan_Ig-like_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR1 HGNC ENSG00000077782 tier1 - - 142 0 0.00 77 50 39.37 56 1 1.75 40 17 29.82 OR10Z1 0 genome.wustl.edu 37 1 158577164 158577164 + Silent SNP A A G TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 1 158577164 158577164 A G SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known silent c.936 p.K312 0.009 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 tier1 - - 46 0 0.00 18 17 48.57 107 0 0.00 78 63 44.68 TLR9 0 genome.wustl.edu 37 3 52255778 52255778 + Missense_Mutation SNP C C T TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 3 52255778 52255778 C T SNP TLR9 ENST00000597542 human ensembl 74_37 -1 known missense c.2626 p.A876T 0.998 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR9 HGNC ENSG00000239732 tier1 - - 71 0 0.00 65 10 13.16 25 0 0.00 32 9 21.95 WDR81 0 genome.wustl.edu 37 17 1630298 1630298 + Missense_Mutation SNP C C T TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 17 1630298 1630298 C T SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.2045 p.S682F 0.134 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 tier1 - - 59 0 0.00 37 40 51.95 68 0 0.00 34 47 58.02 OR2T4 0 genome.wustl.edu 37 1 248525837 248525837 + Missense_Mutation SNP C C A TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 1 248525837 248525837 C A SNP OR2T4 ENST00000366475 human ensembl 74_37 +1 known missense c.955 p.P319T 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T4 HGNC ENSG00000196944 tier1 - - 244 0 0.00 165 31 15.82 44 0 0.00 52 6 10.34 IARS 0 genome.wustl.edu 37 9 95013076 95013076 + Missense_Mutation SNP T T C TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 9 95013076 95013076 T C SNP IARS ENST00000375643 human ensembl 74_37 -1 known missense c.2348 p.N783S 1.000 pfam_V/L/I-tR-synth_anticodon-bd,superfamily_tRsynth_1a_anticodon-bd,tigrfam_Ile-tR-ligase pfam_aa-tR-synth_Ia,pfam_V/L/I-tR-synth_anticodon-bd,pfam_Methionyl/Leucyl_tR_Synth,superfamily_Val/Leu/Ile-tR-synth_edit,superfamily_tRsynth_1a_anticodon-bd,prints_Ile-tR-ligase,tigrfam_Ile-tR-ligase - no_errors IARS HGNC ENSG00000196305 tier1 - - 58 0 0.00 28 21 42.86 120 0 0.00 65 65 50.00 TP53 0 genome.wustl.edu 37 17 7578191 7578191 + Missense_Mutation SNP A A C TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 17 7578191 7578191 A C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.658 p.Y220D 0.998 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor 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 - - 69 0 0.00 13 46 77.97 97 0 0.00 21 97 82.20 CLDN15 0 genome.wustl.edu 37 7 100877561 100877561 + Missense_Mutation SNP G G C TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 7 100877561 100877561 G C SNP CLDN15 ENST00000308344 human ensembl 74_37 -1 known missense c.380 p.A127G 0.680 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin15 - no_errors CLDN15 HGNC ENSG00000106404 tier1 - - 72 0 0.00 17 20 54.05 46 0 0.00 29 16 35.56 SLC22A14 0 genome.wustl.edu 37 3 38354512 38354512 + Missense_Mutation SNP T T C TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 3 38354512 38354512 T C SNP SLC22A14 ENST00000273173 human ensembl 74_37 +1 known missense c.967 p.W323R 0.996 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 SLC22A14 HGNC ENSG00000144671 tier1 - - 58 0 0.00 31 28 47.46 56 0 0.00 40 30 42.86 DCAF8 0 genome.wustl.edu 37 1 160187406 160187406 + Missense_Mutation SNP G G C TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 1 160187406 160187406 G C SNP DCAF8 ENST00000608310 human ensembl 74_37 -1 known missense c.2232 p.D744E 1.000 NULL pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8 HGNC ENSG00000132716 tier1 - - 33 0 0.00 15 28 65.12 36 0 0.00 27 13 32.50 PPP1R13B 0 genome.wustl.edu 37 14 104201334 104201334 + R SNP C C T TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 14 104201334 104201334 C T SNP PPP1R13B ENST00000555391 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors PPP1R13B HGNC ENSG00000088808 tier1 - - 75 0 0.00 35 20 36.36 140 0 0.00 76 70 47.95 DCAF8 0 genome.wustl.edu 37 1 160187383 160187383 + Silent SNP C C T TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 1 160187383 160187383 C T SNP DCAF8 ENST00000608310 human ensembl 74_37 -1 known silent c.2255 p.*752 1.000 NULL pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8 HGNC ENSG00000132716 tier1 - - 27 0 0.00 13 22 59.46 36 0 0.00 31 11 26.19 C16orf91 0 genome.wustl.edu 37 16 1479302 1479302 + Missense_Mutation SNP T T C TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 16 1479302 1479302 T C SNP C16orf91 ENST00000310355 human ensembl 74_37 -1 known missense c.44 p.E15G 0.230 NULL prints_CCSMST1 - no_errors C16orf91 HGNC ENSG00000174109 tier1 - - 270 0 0.00 93 19 16.96 58 0 0.00 25 4 13.79 KNTC1 0 genome.wustl.edu 37 12 123042022 123042022 + Missense_Mutation SNP T T C TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 12 123042022 123042022 T C SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known missense c.1364 p.V455A 0.997 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 tier1 - - 95 0 0.00 68 8 10.39 86 0 0.00 113 16 12.40 TRIM42 0 genome.wustl.edu 37 3 140401655 140401655 + Silent SNP C C A TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 3 140401655 140401655 C A SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known silent c.693 p.R231 0.290 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 tier1 - - 79 0 0.00 101 12 10.62 31 0 0.00 27 5 15.62 PTPRU 0 genome.wustl.edu 37 1 29602257 29602257 + Missense_Mutation SNP C C T TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 1 29602257 29602257 C T SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.1442 p.T481M 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 tier1 - - 33 0 0.00 9 16 64.00 136 0 0.00 22 78 78.00 LRRC40 0 genome.wustl.edu 37 1 70611568 70611568 + Missense_Mutation SNP T T C TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 1 70611568 70611568 T C SNP LRRC40 ENST00000370952 human ensembl 74_37 -1 known missense c.1724 p.N575S 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC40 HGNC ENSG00000066557 tier1 - - 73 0 0.00 27 7 20.59 99 0 0.00 51 16 23.88 PPP6R1 0 genome.wustl.edu 37 19 55753603 55753604 + Frame_Shift_Ins INS - - CC TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 - - - CC - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 19 55753603 55753604 - CC INS PPP6R1 ENST00000412770 human ensembl 74_37 -1 known frame_shift_ins c.776_775 p.E259fs 1.000:1.000 pfam_SAPS,superfamily_ARM-type_fold pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R1 HGNC ENSG00000105063 tier1 46 0 0.00 35 12 25.53 38 0 0.00 18 11 37.93 GLIS1 0 genome.wustl.edu 37 1 54059922 54059922 + Silent SNP C C T TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 1 54059922 54059922 C T SNP GLIS1 ENST00000312233 human ensembl 74_37 -1 known silent c.654 p.K218 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 tier1 - - 56 0 0.00 14 29 67.44 11 0 0.00 2 4 66.67 NPDC1 0 genome.wustl.edu 37 9 139935042 139935042 + Missense_Mutation SNP C C T TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 9 139935042 139935042 C T SNP NPDC1 ENST00000371600 human ensembl 74_37 -1 known missense c.866 p.R289H 0.808 pfam_NPDC1 pfam_NPDC1 - no_errors NPDC1 HGNC ENSG00000107281 tier1 - - 31 0 0.00 21 20 48.78 9 0 0.00 5 9 64.29 OXSM 0 genome.wustl.edu 37 3 25832990 25832990 + Missense_Mutation SNP T T C TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 3 25832990 25832990 T C SNP OXSM ENST00000280701 human ensembl 74_37 +1 known missense c.479 p.V160A 1.000 pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 pfam_Ketoacyl_synth_N,pfam_Ketoacyl_synth_C,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 - no_errors OXSM HGNC ENSG00000151093 tier1 - - 55 0 0.00 36 5 12.20 101 0 0.00 100 9 8.18 CKAP2L 0 genome.wustl.edu 37 2 113513773 113513773 + Missense_Mutation SNP C C A TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 2 113513773 113513773 C A SNP CKAP2L ENST00000302450 human ensembl 74_37 -1 known missense c.1175 p.S392I 0.999 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 tier1 - - 116 0 0.00 90 8 8.16 87 0 0.00 101 9 8.11 FOXO4 0 genome.wustl.edu 37 X 70320988 70320988 + Missense_Mutation SNP G G T TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 X 70320988 70320988 G T SNP FOXO4 ENST00000374259 human ensembl 74_37 +1 known missense c.908 p.G303V 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO4 HGNC ENSG00000184481 tier1 - - 82 0 0.00 49 8 13.79 91 0 0.00 115 8 6.50 ADAMTSL2 0 genome.wustl.edu 37 9 136402660 136402660 + Missense_Mutation SNP T T A TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 9 136402660 136402660 T A SNP ADAMTSL2 ENST00000393061 human ensembl 74_37 +1 known missense c.551 p.L184Q 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL2 HGNC ENSG00000197859 tier1 - - 149 0 0.00 114 13 10.24 4 0 0.00 2 0 0.00 ENSG00000203849 0 genome.wustl.edu 37 1 142715153 142715153 + R SNP G G T TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 1 142715153 142715153 G T SNP ENSG00000203849 ENST00000610091 human ensembl 74_37 -1 known rna NULL NULL 0.176 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 tier1 - - 158 0 0.00 116 46 28.40 0 0 0.00 0 0 0.00 MAML3 0 genome.wustl.edu 37 4 140811064 140811066 + Frame_Shift_Del DEL TGC TGC - TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 4 140811064 140811066 TGC - DEL MAML3 ENST00000398940 human ensembl 74_37 -1 known frame_shift_del c.110_109 p.Q37fs 1.000:1.000 NULL NULL - no_errors MAML3 HGNC ENSG00000196782 tier1 68 0 0.00 49 8 14.04 1 0 0.00 1 0 0.00 SIAH2 0 genome.wustl.edu 37 3 150480449 150480451 + In_Frame_Del DEL CCG CCG - TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 CCG CCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 3 150480449 150480451 CCG - DEL SIAH2 ENST00000312960 human ensembl 74_37 -1 known in_frame_del c.188_186 p.G63in_frame_del 1.000:1.000:0.993 NULL pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH2 HGNC ENSG00000181788 tier1 18 0 0.00 15 2 11.76 4 0 0.00 3 0 0.00 SLC2A6 0 genome.wustl.edu 37 9 136340690 136340690 + Silent SNP C C T TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 9 136340690 136340690 C T SNP SLC2A6 ENST00000371899 human ensembl 74_37 -1 known silent c.606 p.A202 0.998 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A6 HGNC ENSG00000160326 tier1 - - 31 0 0.00 21 7 25.00 3 0 0.00 0 0 0.00 SOX1 0 genome.wustl.edu 37 13 112722436 112722441 + In_Frame_Del DEL TGGGCG TGGGCG - TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 TGGGCG TGGGCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 13 112722436 112722441 TGGGCG - DEL SOX1 ENST00000330949 human ensembl 74_37 +1 known in_frame_del c.464_469 p.VG159in_frame_del 0.985:0.996:1.000:1.000:0.975:0.961 pfam_TF_SOX pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX1 HGNC ENSG00000182968 tier1 1 0 0.00 0 0 0.00 1 0 0.00 0 0 0.00 C14orf180 0 genome.wustl.edu 37 14 105055119 105055127 + Frame_Shift_Del DEL GACGGGCAG GACGGGCAG - TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 GACGGGCAG GACGGGCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 14 105055119 105055127 GACGGGCAG - DEL C14orf180 ENST00000410013 human ensembl 74_37 +1 known frame_shift_del c.482_483 p.*161fs 0.046:0.035 NULL NULL - no_errors C14orf180 HGNC ENSG00000184601 tier1 2 0 0.00 0 2 100.00 2 0 0.00 0 2 100.00 MGAM 0 genome.wustl.edu 37 7 141781869 141781869 + Silent SNP C C T TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 7 141781869 141781869 C T SNP MGAM ENST00000475668 human ensembl 74_37 +1 putative silent c.6030 p.T2010 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 - - 92 0 0.00 71 7 8.97 60 0 0.00 58 2 3.33 TGFBR2 0 genome.wustl.edu 37 3 30691872 30691872 + Frame_Shift_Del DEL A A - TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99ba1406-c89a-4509-927c-fc73304b5297 f6892671-6102-40e1-9d38-656a40b10c76 3 30691872 30691872 A - DEL TGFBR2 ENST00000359013 human ensembl 74_37 +1 known frame_shift_del c.449 p.K153fs 1.000 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,prints_TGFB_receptor pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 tier1 77 0 0.00 53 7 11.67 50 0 0.00 63 3 4.55