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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ANKRD11 0 genome.wustl.edu 37 16 89349106 89349106 + Missense_Mutation SNP C C T TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 16 89349106 89349106 C T SNP ANKRD11 ENST00000301030 human ensembl 69_37n -1 known missense c.3844 p.E1282K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 86 0 0.00 46 15 24.59 - - - ARHGEF2 0 genome.wustl.edu 37 1 155921009 155921009 + Missense_Mutation SNP C C T TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 1 155921009 155921009 C T SNP ARHGEF2 ENST00000368315 human ensembl 69_37n -1 known missense c.2317 p.E773K 0.879 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 11 0 0.00 17 5 22.73 - - - ATP9A 0 genome.wustl.edu 37 20 50273503 50273503 + Missense_Mutation SNP C C T TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 20 50273503 50273503 C T SNP ATP9A ENST00000338821 human ensembl 69_37n -1 known missense c.1480 p.V494I 0.992 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP9A HGNC ENSG00000054793 101 0 0.00 92 31 25.20 - - - BMP15 0 genome.wustl.edu 37 X 50659301 50659301 + Silent SNP T T C TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 X 50659301 50659301 T C SNP BMP15 ENST00000252677 human ensembl 69_37n +1 known silent c.873 p.C291 0.931 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP15 HGNC ENSG00000130385 127 1 0.78 80 30 27.27 - - - CACNB1 0 genome.wustl.edu 37 17 37347809 37347809 + Missense_Mutation SNP G G T TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 17 37347809 37347809 G T SNP CACNB1 ENST00000394303 human ensembl 69_37n -1 known missense c.209 p.S70Y 1.000 pfam_VDCC_L_bsu pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su - no_errors CACNB1 HGNC ENSG00000067191 124 0 0.00 61 9 12.86 - - - CHST9 0 genome.wustl.edu 37 18 24497058 24497058 + Missense_Mutation SNP T T G TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 18 24497058 24497058 T G SNP CHST9 ENST00000284224 human ensembl 69_37n -1 known missense c.497 p.N166T 0.030 NULL pfam_Sulfotransferase - no_errors CHST9 HGNC ENSG00000154080 226 0 0.00 78 73 48.03 - - - CTNNA2 0 genome.wustl.edu 37 2 80136851 80136851 + Silent SNP C C T TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 2 80136851 80136851 C T SNP CTNNA2 ENST00000361291 human ensembl 69_37n +1 known silent c.1086 p.R362 0.309 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 35 0 0.00 22 5 18.52 - - - DROSHA 0 genome.wustl.edu 37 5 31526807 31526807 + Missense_Mutation SNP A A C TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 5 31526807 31526807 A C SNP DROSHA ENST00000344624 human ensembl 69_37n -1 known missense c.233 p.F78C 1.000 NULL pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 61 0 0.00 42 15 26.32 - - - FARP2 0 genome.wustl.edu 37 2 242312707 242312707 + Splice_Site SNP T T A TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 2 242312707 242312707 T A SNP FARP2 ENST00000264042 human ensembl 69_37n +1 known splice_site c.183+2 e1+2 1.000 - - - no_errors FARP2 HGNC ENSG00000006607 93 0 0.00 76 32 29.09 - - - HIST1H3B 0 genome.wustl.edu 37 6 26031937 26031937 + Missense_Mutation SNP C C T TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 6 26031937 26031937 C T SNP HIST1H3B ENST00000244661 human ensembl 69_37n -1 known missense c.352 p.V118M 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3B HGNC ENSG00000124693 68 0 0.00 63 15 19.23 - - - KCNJ6 0 genome.wustl.edu 37 21 39087178 39087178 + Missense_Mutation SNP C C A TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 21 39087178 39087178 C A SNP KCNJ6 ENST00000288309 human ensembl 69_37n -1 known missense c.282 p.L94F 0.977 pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 160 0 0.00 148 19 11.38 - - - KIAA2026 0 genome.wustl.edu 37 9 5921255 5921255 + Missense_Mutation SNP G G T TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 9 5921255 5921255 G T SNP KIAA2026 ENST00000399933 human ensembl 69_37n -1 novel missense c.4741 p.Q1581K 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 317 1 0.31 194 89 31.45 - - - KIR2DL1 0 genome.wustl.edu 37 19 55284926 55284926 + Missense_Mutation SNP G G A TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 19 55284926 55284926 G A SNP KIR2DL1 ENST00000336077 human ensembl 69_37n +1 known missense c.212 p.R71H 0.000 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL1 HGNC ENSG00000125498 479 0 0.00 258 98 27.53 - - - LGR4 0 genome.wustl.edu 37 11 27393924 27393924 + Silent SNP A A C TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 11 27393924 27393924 A C SNP LGR4 ENST00000379214 human ensembl 69_37n -1 known silent c.1401 p.A467 1.000 NULL pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_supfam,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors LGR4 HGNC ENSG00000205213 191 1 0.52 75 17 18.48 - - - MTR 0 genome.wustl.edu 37 1 237015858 237015858 + Missense_Mutation SNP C C T TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 1 237015858 237015858 C T SNP MTR ENST00000366577 human ensembl 69_37n +1 known missense c.1733 p.S578F 1.000 pfam_Pterin-binding,superfamily_Dihydropteroate_synth-like,pirsf_MetH,pfscan_Pterin-binding,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 69 0 0.00 98 16 14.04 - - - MTR 0 genome.wustl.edu 37 1 237023136 237023136 + Missense_Mutation SNP C C A TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 1 237023136 237023136 C A SNP MTR ENST00000366577 human ensembl 69_37n +1 known missense c.1957 p.Q653K 0.644 pirsf_MetH,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 127 0 0.00 113 18 13.74 - - - MYH13 0 genome.wustl.edu 37 17 10248682 10248682 + Missense_Mutation SNP C C T TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 17 10248682 10248682 C T SNP MYH13 ENST00000252172 human ensembl 69_37n -1 known missense c.1421 p.S474N 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH13 HGNC ENSG00000006788 270 0 0.00 128 138 51.49 - - - NOTCH3 0 genome.wustl.edu 37 19 15281551 15281551 + Missense_Mutation SNP C C T TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 19 15281551 15281551 C T SNP NOTCH3 ENST00000263388 human ensembl 69_37n -1 known missense c.4822 p.A1608T 0.999 pfam_Notch_NODP_dom,pirsf_Notch pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 17 0 0.00 10 10 47.62 - - - PHRF1 0 genome.wustl.edu 37 11 608503 608514 + In_Frame_Del DEL GGACGCGCTCTG GGACGCGCTCTG - TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 GGACGCGCTCTG GGACGCGCTCTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 11 608503 608514 GGACGCGCTCTG - DEL PHRF1 ENST00000264555 human ensembl 69_37n +1 known in_frame_del c.3047_3058 p.GTRS1020in_frame_del 0.000:0.000:0.000:0.003:0.000:0.010:0.008:0.000:0.404:0.408:0.000:0.000 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 12 0 0.00 12 6 33.33 - - - PPEF1 0 genome.wustl.edu 37 X 18800500 18800500 + Nonsense_Mutation SNP G G T TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 X 18800500 18800500 G T SNP PPEF1 ENST00000361511 human ensembl 69_37n +1 known nonsense c.742 p.E248* 1.000 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr-Pase_EF-hand_contain,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF1 HGNC ENSG00000086717 278 0 0.00 123 41 23.98 - - - RHOQ 0 genome.wustl.edu 37 2 46803351 46803351 + Silent SNP A A G TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 2 46803351 46803351 A G SNP RHOQ ENST00000238738 human ensembl 69_37n +1 known silent c.327 p.E109 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOQ HGNC ENSG00000119729 152 1 0.65 89 42 32.06 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037842 10037842 + RNA SNP A A G TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 Y 10037842 10037842 A G SNP RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 18 0 0.00 14 4 22.22 - - - SMYD2 0 genome.wustl.edu 37 1 214491454 214491454 + Silent SNP A A G TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 1 214491454 214491454 A G SNP SMYD2 ENST00000366957 human ensembl 69_37n +1 known silent c.381 p.K127 0.043 pfam_SET_dom,smart_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD2 HGNC ENSG00000143499 180 0 0.00 69 78 53.06 - - - SOS1 0 genome.wustl.edu 37 2 39281877 39281877 + Missense_Mutation SNP T T C TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 2 39281877 39281877 T C SNP SOS1 ENST00000402219 human ensembl 69_37n -1 known missense c.598 p.T200A 1.000 superfamily_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 188 0 0.00 116 37 24.03 - - - STAG2 0 genome.wustl.edu 37 X 123195704 123195704 + Nonsense_Mutation SNP G G T TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 X 123195704 123195704 G T SNP STAG2 ENST00000218089 human ensembl 69_37n +1 known nonsense c.1618 p.G540* 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 154 0 0.00 81 34 29.57 - - - TCOF1 0 genome.wustl.edu 37 5 149776147 149776149 + In_Frame_Del DEL AAG AAG - TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 5 149776147 149776149 AAG - DEL TCOF1 ENST00000451292 human ensembl 69_37n +1 known in_frame_del c.4195_4197 p.K1402in_frame_del 1.000:1.000:1.000 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 35 0 0.00 42 5 10.64 - - - TP53 0 genome.wustl.edu 37 17 7578253 7578253 + Missense_Mutation SNP C C A TCGA-A2-A0SX-01A-12D-A099-09 TCGA-A2-A0SX-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b54bc31e-bdcc-4ad5-998e-5a9c542f83bb ee7f21d0-efa1-4d19-9b82-03e1a90432b4 17 7578253 7578253 C A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.596 p.G199V 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 212 0 0.00 74 69 47.59 - - -