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 SRGAP1 0 genome.wustl.edu 37 12 64377909 64377909 + Missense_Mutation SNP C C T TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 12 64377909 64377909 C T SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known missense c.250 p.H84Y 1.000 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 tier1 - - 23 0 0.00 18 66 78.57 98 1 1.01 110 525 82.68 POU1F1 0 genome.wustl.edu 37 3 87322591 87322591 + Silent SNP C C A TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 3 87322591 87322591 C A SNP POU1F1 ENST00000344265 human ensembl 74_37 -1 known silent c.198 p.S66 0.997 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU1F1 HGNC ENSG00000064835 tier1 - - 122 0 0.00 68 28 29.17 51 0 0.00 61 27 30.68 CACNB1 0 genome.wustl.edu 37 17 37351189 37351189 + Missense_Mutation SNP C C G TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 17 37351189 37351189 C G SNP CACNB1 ENST00000394303 human ensembl 74_37 -1 known missense c.119 p.R40P 1.000 NULL pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su - no_errors CACNB1 HGNC ENSG00000067191 tier1 - - 85 0 0.00 69 14 16.87 133 0 0.00 99 20 16.81 B4GALNT1 0 genome.wustl.edu 37 12 58025114 58025114 + Silent SNP G G A TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 12 58025114 58025114 G A SNP B4GALNT1 ENST00000341156 human ensembl 74_37 -1 known silent c.252 p.S84 0.981 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 tier1 - - 24 0 0.00 310 57 15.53 48 0 0.00 706 108 13.25 HTT 0 genome.wustl.edu 37 4 3137957 3137957 + Nonsense_Mutation SNP T T G TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 4 3137957 3137957 T G SNP HTT ENST00000355072 human ensembl 74_37 +1 known nonsense c.2702 p.L901* 0.996 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 tier1 - - 61 0 0.00 30 4 11.76 91 0 0.00 76 18 19.15 B4GALNT1 0 genome.wustl.edu 37 12 58025075 58025075 + Silent SNP G G T TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 12 58025075 58025075 G T SNP B4GALNT1 ENST00000341156 human ensembl 74_37 -1 known silent c.291 p.V97 0.533 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 tier1 - - 28 0 0.00 321 65 16.84 61 0 0.00 819 128 13.52 TMPRSS2 0 genome.wustl.edu 37 21 42851103 42851103 + Missense_Mutation SNP G G A TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 21 42851103 42851103 G A SNP TMPRSS2 ENST00000398585 human ensembl 74_37 -1 known missense c.790 p.H264Y 0.999 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel pfam_Peptidase_S1,pfam_SRCR,pfam_Peptidase_S1A_nudel,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 TMPRSS2 HGNC ENSG00000184012 tier1 - - 63 0 0.00 56 96 62.75 99 0 0.00 101 147 59.27 KRT121P 0 genome.wustl.edu 37 12 52648120 52648120 + R SNP G G C TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 12 52648120 52648120 G C SNP KRT121P ENST00000529785 human ensembl 74_37 -1 known rna NULL NULL 0.195 - - - no_errors KRT121P HGNC ENSG00000135477 tier1 - - 82 0 0.00 106 60 36.14 63 0 0.00 141 98 41.00 NBPF5P 0 genome.wustl.edu 37 1 108926235 108926235 + R SNP C C T TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 1 108926235 108926235 C T SNP NBPF5P ENST00000357046 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors NBPF5P HGNC ENSG00000243967 tier1 - - 66 0 0.00 64 14 17.95 66 0 0.00 43 7 14.00 SRGAP1 0 genome.wustl.edu 37 12 64377912 64377912 + Nonsense_Mutation SNP C C T TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 12 64377912 64377912 C T SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known nonsense c.253 p.Q85* 1.000 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 tier1 - - 22 0 0.00 18 64 78.05 95 0 0.00 107 517 82.85 SMCHD1 0 genome.wustl.edu 37 18 2795948 2795948 + Missense_Mutation SNP T T A TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 18 2795948 2795948 T A SNP SMCHD1 ENST00000320876 human ensembl 74_37 +1 known missense c.5721 p.D1907E 0.995 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 tier1 - - 42 0 0.00 16 8 33.33 82 0 0.00 78 20 20.41 SIPA1L2 0 genome.wustl.edu 37 1 232607223 232607223 + Missense_Mutation SNP C C T TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 1 232607223 232607223 C T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.2137 p.E713K 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 tier1 - - 82 0 0.00 52 17 24.64 113 0 0.00 105 20 16.00 RFTN2 0 genome.wustl.edu 37 2 198540166 198540166 + Missense_Mutation SNP C C T TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 2 198540166 198540166 C T SNP RFTN2 ENST00000295049 human ensembl 74_37 -1 known missense c.17 p.R6K 1.000 NULL NULL - no_errors RFTN2 HGNC ENSG00000162944 tier1 - - 19 0 0.00 8 6 42.86 84 0 0.00 82 12 12.63 IRS1 0 genome.wustl.edu 37 2 227662435 227662435 + Silent SNP G G A TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 2 227662435 227662435 G A SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known silent c.1020 p.A340 0.951 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 tier1 - - 73 0 0.00 61 15 19.74 9 0 0.00 21 5 19.23 POTEC 0 genome.wustl.edu 37 18 14542900 14542900 + Silent SNP A A G TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 18 14542900 14542900 A G SNP POTEC ENST00000358970 human ensembl 74_37 -1 known silent c.246 p.T82 0.015 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 tier1 - - 435 0 0.00 314 398 55.82 49 0 0.00 50 38 43.18 TAF6L 0 genome.wustl.edu 37 11 62545600 62545600 + Missense_Mutation SNP G G A TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 11 62545600 62545600 G A SNP TAF6L ENST00000294168 human ensembl 74_37 +1 known missense c.385 p.V129I 1.000 NULL pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC ENSG00000162227 tier1 - - 71 0 0.00 75 16 17.58 68 0 0.00 60 16 21.05 EPB41L1 0 genome.wustl.edu 37 20 34797668 34797668 + Missense_Mutation SNP C C T TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 20 34797668 34797668 C T SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known missense c.1927 p.L643F 1.000 pirsf_Band_41_protein pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 tier1 - - 28 0 0.00 26 9 25.71 54 0 0.00 54 11 16.92 RCOR1 0 genome.wustl.edu 37 14 103173719 103173719 + Missense_Mutation SNP A A G TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 14 103173719 103173719 A G SNP RCOR1 ENST00000262241 human ensembl 74_37 +1 known missense c.530 p.N177S 1.000 superfamily_Homeodomain-like,pfscan_ELM2_dom pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom,prints_Antifreeze_1 - no_errors RCOR1 HGNC ENSG00000089902 tier1 - - 60 0 0.00 32 10 23.81 108 0 0.00 129 25 16.23 KRT121P 0 genome.wustl.edu 37 12 52647544 52647544 + R SNP G G A TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 12 52647544 52647544 G A SNP KRT121P ENST00000529785 human ensembl 74_37 -1 known rna NULL NULL 0.182 - - - no_errors KRT121P HGNC ENSG00000135477 tier1 - - 45 0 0.00 59 52 46.85 73 0 0.00 144 128 47.06 B4GALNT1 0 genome.wustl.edu 37 12 58025099 58025099 + Silent SNP G G T TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 12 58025099 58025099 G T SNP B4GALNT1 ENST00000341156 human ensembl 74_37 -1 known silent c.267 p.L89 0.000 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 tier1 - - 24 0 0.00 312 58 15.63 50 1 1.96 765 117 13.25 B4GALNT1 0 genome.wustl.edu 37 12 58024808 58024808 + Missense_Mutation SNP G G C TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 12 58024808 58024808 G C SNP B4GALNT1 ENST00000341156 human ensembl 74_37 -1 known missense c.445 p.L149V 0.988 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 tier1 - - 20 0 0.00 260 66 20.18 38 0 0.00 514 139 21.29 GNRH2 0 genome.wustl.edu 37 20 3026346 3026350 + Frame_Shift_Del DEL GCCCC GCCCC - TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 GCCCC GCCCC GCCCC - GCCCC GCCCC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 20 3026346 3026350 GCCCC - DEL GNRH2 ENST00000245983 human ensembl 74_37 +1 known frame_shift_del c.327_331 p.A113fs 0.024:0.007:0.002:0.001:0.000 NULL pfam_GnRH - no_errors GNRH2 HGNC ENSG00000125787 tier1 34 0 0.00 23 7 23.33 34 0 0.00 23 7 23.33 ENPP5 0 genome.wustl.edu 37 6 46129094 46129094 + Missense_Mutation SNP G G C TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 6 46129094 46129094 G C SNP ENPP5 ENST00000230565 human ensembl 74_37 -1 known missense c.1403 p.A468G 0.988 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP5 HGNC ENSG00000112796 tier1 - - 45 0 0.00 21 4 16.00 118 0 0.00 153 12 7.27 ZFHX2 0 genome.wustl.edu 37 14 23994340 23994340 + Frame_Shift_Del DEL T T - TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 14 23994340 23994340 T - DEL ZFHX2 ENST00000419474 human ensembl 74_37 -1 known frame_shift_del c.4811 p.E1604fs 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 tier1 35 0 0.00 28 4 12.50 60 0 0.00 97 6 5.83 ENSG00000230850 0 genome.wustl.edu 37 1 143156621 143156621 + R SNP C C T TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 1 143156621 143156621 C T SNP ENSG00000230850 ENST00000454861 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors RP11-782C8.1 Clone_based_vega_gene ENSG00000230850 tier1 rs61786125 - 11 0 0.00 5 4 44.44 2 0 0.00 0 0 0.00 FAM138C 0 genome.wustl.edu 37 9 35199 35199 + R SNP A A G TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 9 35199 35199 A G SNP FAM138C ENST00000305248 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM138C HGNC ENSG00000218839 tier1 - - 15 0 0.00 7 4 36.36 0 0 0.00 0 0 0.00 LOR 0 genome.wustl.edu 37 1 153233991 153233992 + In_Frame_Ins INS - - CTCTGGCGGCGT TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 1 153233991 153233992 - CTCTGGCGGCGT INS LOR ENST00000368742 human ensembl 74_37 +1 known in_frame_ins c.566_567 p.193in_frame_insVSGG 0.014:0.200 NULL NULL - no_errors LOR HGNC ENSG00000203782 tier1 1 0 0.00 0 0 0.00 1 0 0.00 0 0 0.00 AP3B1 0 genome.wustl.edu 37 5 77411983 77412004 + Frame_Shift_Del DEL CTTCCTCAGATTCAGAATAAAA CTTCCTCAGATTCAGAATAAAA - TCGA-DX-A2J4-01A-32D-A21Q-09 TCGA-DX-A2J4-10A-01D-A21Q-09 CTTCCTCAGATTCAGAATAAAA CTTCCTCAGATTCAGAATAAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 968929b0-6bfb-4a2c-bd4d-570bfcdb8a6a 7beaaff7-e241-4851-8dba-fd0b302c53cf 5 77411983 77412004 CTTCCTCAGATTCAGAATAAAA - DEL AP3B1 ENST00000255194 human ensembl 74_37 -1 known frame_shift_del c.2044_2023 p.F675fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.980:1.000:1.000:0.994:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 tier1 77 0 0.00 84 2 2.33 77 0 0.00 84 2 2.33