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 ALG1 0 genome.wustl.edu 37 16 5132586 5132586 + Missense_Mutation SNP C C T TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 16 5132586 5132586 C T SNP ALG1 ENST00000262374 human ensembl 69_37n +1 known missense c.1099 p.H367Y 1.000 pfam_Glyco_trans_1 pfam_Glyco_trans_1 - no_errors ALG1 HGNC ENSG00000033011 138 0 0.00 170 36 17.48 - - - AMZ2 0 genome.wustl.edu 37 17 66246548 66246548 + Missense_Mutation SNP T T G TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 17 66246548 66246548 T G SNP AMZ2 ENST00000359904 human ensembl 69_37n +1 known missense c.220 p.F74V 1.000 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ2 HGNC ENSG00000196704 96 0 0.00 96 90 48.13 - - - ASCL3 0 genome.wustl.edu 37 11 8959533 8959533 + Missense_Mutation SNP G G C TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 11 8959533 8959533 G C SNP ASCL3 ENST00000325884 human ensembl 69_37n -1 known missense c.176 p.P59R 0.167 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors ASCL3 HGNC ENSG00000176009 129 1 0.76 80 24 23.08 - - - CHML 0 genome.wustl.edu 37 1 241798828 241798828 + Frame_Shift_Del DEL G G - TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 1 241798828 241798828 G - DEL CHML ENST00000366553 human ensembl 69_37n -1 known frame_shift_del c.241 p.H81fs 0.004 pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHML HGNC ENSG00000203668 92 0 0.00 124 71 36.04 - - - CILP 0 genome.wustl.edu 37 15 65489601 65489601 + Missense_Mutation SNP A A T TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 15 65489601 65489601 A T SNP CILP ENST00000261883 human ensembl 69_37n -1 known missense c.3023 p.F1008Y 1.000 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 - no_errors CILP HGNC ENSG00000138615 54 0 0.00 39 12 23.53 - - - COL20A1 0 genome.wustl.edu 37 20 61939981 61939981 + Missense_Mutation SNP C C T TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 20 61939981 61939981 C T SNP COL20A1 ENST00000326996 human ensembl 69_37n +1 known missense c.863 p.T288M 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 20 0 0.00 121 23 15.97 - - - ENSG00000235041 0 genome.wustl.edu 37 9 99673410 99673410 + Splice_Site SNP G G A TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 9 99673410 99673410 G A SNP ENSG00000235041 ENST00000435150 human ensembl 69_37n +1 known splice_site c.NULL NULL 0.999 - - - no_coding_region:pseudogene RP11-330M2.4 Clone_based_vega_gene ENSG00000235041 9 0 0.00 7 7 50.00 - - - FAF2 0 genome.wustl.edu 37 5 175875463 175875463 + Missense_Mutation SNP C C A TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 5 175875463 175875463 C A SNP FAF2 ENST00000261942 human ensembl 69_37n +1 known missense c.55 p.Q19K 1.000 superfamily_UBA-like pfam_UBX,superfamily_UBA-like,smart_UAS,pfscan_UBX - no_errors FAF2 HGNC ENSG00000113194 45 0 0.00 47 23 32.86 - - - FAM115C 0 genome.wustl.edu 37 7 143417083 143417083 + Missense_Mutation SNP T T C TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 7 143417083 143417083 T C SNP FAM115C ENST00000441159 human ensembl 69_37n +1 known missense c.931 p.C311R 0.002 NULL NULL - no_errors FAM115C HGNC ENSG00000170379 11 0 0.00 4 9 69.23 - - - GJB2 0 genome.wustl.edu 37 13 20763283 20763283 + Missense_Mutation SNP G G C TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 13 20763283 20763283 G C SNP GJB2 ENST00000382844 human ensembl 69_37n -1 known missense c.438 p.F146L 0.647 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin26 - no_errors GJB2 HGNC ENSG00000165474 88 0 0.00 75 20 21.05 - - - GNPTAB 0 genome.wustl.edu 37 12 102161847 102161847 + Missense_Mutation SNP G G A TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 12 102161847 102161847 G A SNP GNPTAB ENST00000299314 human ensembl 69_37n -1 known missense c.1376 p.S459L 0.999 pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pfscan_Notch_dom pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 66 0 0.00 61 28 31.46 - - - GRIN2C 0 genome.wustl.edu 37 17 72846850 72846850 + Silent SNP G G A TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 17 72846850 72846850 G A SNP GRIN2C ENST00000293190 human ensembl 69_37n -1 known silent c.1170 p.Y390 1.000 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 20 0 0.00 23 9 28.12 - - - HNRPDL 0 genome.wustl.edu 37 4 83350497 83350497 + Missense_Mutation SNP C C G TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 4 83350497 83350497 C G SNP HNRPDL ENST00000295470 human ensembl 69_37n -1 known missense c.347 p.S116T 0.255 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRPDL HGNC ENSG00000152795 14 0 0.00 48 27 36.00 - - - IKZF1 0 genome.wustl.edu 37 7 50468114 50468114 + Missense_Mutation SNP G G A TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 7 50468114 50468114 G A SNP IKZF1 ENST00000331340 human ensembl 69_37n +1 known missense c.1349 p.R450H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 30 0 0.00 19 6 24.00 - - - LRRD1 0 genome.wustl.edu 37 7 91792659 91792659 + Nonsense_Mutation SNP C C A TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 7 91792659 91792659 C A SNP LRRD1 ENST00000430130 human ensembl 69_37n -1 known nonsense c.1858 p.E620* 0.996 NULL pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death - no_errors LRRD1 HGNC ENSG00000240720 174 0 0.00 180 36 16.67 - - - MCTS1 0 genome.wustl.edu 37 X 119738713 119738713 + Missense_Mutation SNP G G A TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b X 119738713 119738713 G A SNP MCTS1 ENST00000371315 human ensembl 69_37n +1 known missense c.5 p.G2D 0.999 NULL pfam_PUA,superfamily_PUA-like_domain,smart_PUA,pirsf_Transl_RNA-bd_prd,pfscan_PUA,tigrfam_Uncharacterised_CHP00451 - no_errors MCTS1 HGNC ENSG00000232119 243 1 0.41 237 52 17.87 - - - NFATC4 0 genome.wustl.edu 37 14 24845882 24845882 + Silent SNP G G A TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 14 24845882 24845882 G A SNP NFATC4 ENST00000413692 human ensembl 69_37n +1 known silent c.2628 p.P876 0.948 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 29 0 0.00 61 12 16.44 - - - NLRC5 0 genome.wustl.edu 37 16 57059665 57059665 + Missense_Mutation SNP C C T TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 16 57059665 57059665 C T SNP NLRC5 ENST00000538805 human ensembl 69_37n +1 putative missense c.67 p.P23S 0.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NLRC5 HGNC ENSG00000140853 80 0 0.00 81 40 33.06 - - - NOTUM 0 genome.wustl.edu 37 17 79914949 79914949 + Missense_Mutation SNP C C T TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 17 79914949 79914949 C T SNP NOTUM ENST00000409678 human ensembl 69_37n -1 known missense c.697 p.A233T 1.000 pfam_Pec_acetylest pfam_Pec_acetylest - no_errors NOTUM HGNC ENSG00000185269 22 0 0.00 11 26 70.27 - - - NUP62 0 genome.wustl.edu 37 19 50412785 50412785 + Missense_Mutation SNP C C A TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 19 50412785 50412785 C A SNP NUP62 ENST00000352066 human ensembl 69_37n -1 known missense c.280 p.A94S 0.000 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 118 0 0.00 98 60 37.97 - - - OFD1 0 genome.wustl.edu 37 X 13776561 13776561 + Nonsense_Mutation SNP C C T TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b X 13776561 13776561 C T SNP OFD1 ENST00000340096 human ensembl 69_37n +1 known nonsense c.1648 p.Q550* 0.998 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 154 0 0.00 108 37 25.52 - - - PPFIBP2 0 genome.wustl.edu 37 11 7650734 7650734 + Silent SNP G G T TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 11 7650734 7650734 G T SNP PPFIBP2 ENST00000299492 human ensembl 69_37n +1 known silent c.933 p.R311 0.475 NULL pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP2 HGNC ENSG00000166387 194 0 0.00 162 64 28.32 - - - PSMD11 0 genome.wustl.edu 37 17 30771560 30771560 + Missense_Mutation SNP G G C TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 17 30771560 30771560 G C SNP PSMD11 ENST00000261712 human ensembl 69_37n +1 known missense c.19 p.V7L 1.000 NULL pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors PSMD11 HGNC ENSG00000108671 32 0 0.00 19 13 40.62 - - - RANBP6 0 genome.wustl.edu 37 9 6012961 6012961 + Missense_Mutation SNP T T C TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 9 6012961 6012961 T C SNP RANBP6 ENST00000259569 human ensembl 69_37n -1 known missense c.2647 p.S883G 0.932 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 84 0 0.00 40 56 58.33 - - - SCN4A 0 genome.wustl.edu 37 17 62022840 62022840 + Missense_Mutation SNP G G C TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 17 62022840 62022840 G C SNP SCN4A ENST00000435607 human ensembl 69_37n -1 known missense c.3600 p.I1200M 0.255 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN4A HGNC ENSG00000007314 109 0 0.00 674 267 28.37 - - - SNAI1 0 genome.wustl.edu 37 20 48604526 48604526 + Missense_Mutation SNP G G A TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 20 48604526 48604526 G A SNP SNAI1 ENST00000244050 human ensembl 69_37n +1 known missense c.728 p.R243Q 0.963 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI1 HGNC ENSG00000124216 94 0 0.00 167 74 30.71 - - - SPEN 0 genome.wustl.edu 37 1 16258909 16258915 + Frame_Shift_Del DEL CCCTGTT CCCTGTT - TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 CCCTGTT CCCTGTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 1 16258909 16258915 CCCTGTT - DEL SPEN ENST00000375759 human ensembl 69_37n +1 known frame_shift_del c.6174_6180 p.P2059fs 0.005:0.012:0.131:0.122:0.233:0.299:0.561 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 135 0 0.00 39 9 17.65 - - - TH1L 0 genome.wustl.edu 37 20 57566094 57566094 + Missense_Mutation SNP G G C TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 20 57566094 57566094 G C SNP TH1L ENST00000344018 human ensembl 69_37n +1 known missense c.945 p.K315N 1.000 pfam_TH1 pfam_TH1 - no_errors TH1L HGNC ENSG00000101158 83 0 0.00 147 27 15.52 - - - TRBV6-8 0 genome.wustl.edu 37 7 142124196 142124196 + Silent SNP G G A TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 7 142124196 142124196 G A SNP TRBV6-8 ENST00000390376 human ensembl 69_37n -1 known silent c.282 p.L94 0.183 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region TRBV6-8 HGNC ENSG00000253534 150 0 0.00 176 47 21.08 - - - UBAP1L 0 genome.wustl.edu 37 15 65385553 65385553 + Missense_Mutation SNP C C T TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 15 65385553 65385553 C T SNP UBAP1L ENST00000502113 human ensembl 69_37n -1 known missense c.1028 p.R343H 0.477 superfamily_UBA-like superfamily_UBA-like - no_errors UBAP1L HGNC ENSG00000246922 37 0 0.00 21 9 30.00 - - - ZBTB11 0 genome.wustl.edu 37 3 101378855 101378855 + Missense_Mutation SNP A A C TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 3 101378855 101378855 A C SNP ZBTB11 ENST00000312938 human ensembl 69_37n -1 known missense c.1818 p.F606L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ENSG00000066422 135 0 0.00 82 61 42.66 - - - ZNF543 0 genome.wustl.edu 37 19 57839971 57839971 + Missense_Mutation SNP G G A TCGA-A1-A0SJ-01A-11D-A099-09 TCGA-A1-A0SJ-10A-02D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a55c6a44-c0f5-4300-8df4-4a70befe2d3b aaf63cff-b2e2-4f9b-868e-e7a1637cc14b 19 57839971 57839971 G A SNP ZNF543 ENST00000321545 human ensembl 69_37n +1 known missense c.1141 p.D381N 0.000 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 ZNF543 HGNC ENSG00000178229 127 0 0.00 101 15 12.93 - - -