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 AGAP7 0 genome.wustl.edu 37 10 51464656 51464656 + Missense_Mutation SNP G G C TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 10 51464656 51464656 G C SNP AGAP7 ENST00000374095 human ensembl 69_37n -1 known missense c.1800 p.D600E 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP7 HGNC ENSG00000204169 13 0 0.00 29 12 29.27 - - - ATP8B3 0 genome.wustl.edu 37 19 1802626 1802626 + Missense_Mutation SNP G G A TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 19 1802626 1802626 G A SNP ATP8B3 ENST00000539485 human ensembl 69_37n -1 known missense c.923 p.A308V 0.888 pfam_ATPase_P-typ_ATPase-assoc-dom,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 ATP8B3 HGNC ENSG00000130270 53 0 0.00 87 32 26.67 - - - CAND1 0 genome.wustl.edu 37 12 67696173 67696173 + Silent SNP G G A TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 12 67696173 67696173 G A SNP CAND1 ENST00000299218 human ensembl 69_37n +1 known silent c.1071 p.L357 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 119 0 0.00 144 48 25.00 - - - CCIN 0 genome.wustl.edu 37 9 36169514 36169514 + Missense_Mutation SNP C C A TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 9 36169514 36169514 C A SNP CCIN ENST00000335119 human ensembl 69_37n +1 known missense c.15 p.F5L 1.000 superfamily_BTB/POZ_fold pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors CCIN HGNC ENSG00000185972 56 0 0.00 57 27 32.14 - - - CD1B 0 genome.wustl.edu 37 1 158299878 158299878 + Missense_Mutation SNP G G C TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 1 158299878 158299878 G C SNP CD1B ENST00000368168 human ensembl 69_37n -1 known missense c.371 p.S124C 0.000 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1B HGNC ENSG00000158485 65 0 0.00 81 23 22.12 - - - CDH1 0 genome.wustl.edu 37 16 68845685 68845686 + Frame_Shift_Ins INS - - T TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 16 68845685 68845686 - T INS CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_ins c.931_932 p.D313fs 0.000:0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 55 0 0.00 57 28 32.94 - - - CELSR3 0 genome.wustl.edu 37 3 48694417 48694417 + Silent SNP T T C TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 3 48694417 48694417 T C SNP CELSR3 ENST00000544264 human ensembl 69_37n -1 known silent c.4113 p.V1371 1.000 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 8 0 0.00 23 8 25.81 - - - CSRNP1 0 genome.wustl.edu 37 3 39185716 39185716 + Missense_Mutation SNP C C T TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 3 39185716 39185716 C T SNP CSRNP1 ENST00000273153 human ensembl 69_37n -1 known missense c.692 p.R231H 1.000 prints_Cys/Ser-rich_nuc_prot prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP1 HGNC ENSG00000144655 16 0 0.00 34 18 34.62 - - - EFR3B 0 genome.wustl.edu 37 2 25358396 25358396 + Missense_Mutation SNP C C T TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 2 25358396 25358396 C T SNP EFR3B ENST00000403714 human ensembl 69_37n +1 known missense c.1372 p.R458C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3B HGNC ENSG00000084710 85 0 0.00 142 59 29.35 - - - ETV7 0 genome.wustl.edu 37 6 36334453 36334453 + Missense_Mutation SNP A A G TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 6 36334453 36334453 A G SNP ETV7 ENST00000340181 human ensembl 69_37n -1 known missense c.995 p.F332S 0.891 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV7 HGNC ENSG00000010030 71 0 0.00 146 48 24.62 - - - FLNA 0 genome.wustl.edu 37 X 153599398 153599398 + Silent SNP G G A TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 X 153599398 153599398 G A SNP FLNA ENST00000369850 human ensembl 69_37n -1 known silent c.216 p.S72 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 12 0 0.00 68 21 23.60 - - - GLB1L3 0 genome.wustl.edu 37 11 134179638 134179638 + Missense_Mutation SNP G G A TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 11 134179638 134179638 G A SNP GLB1L3 ENST00000455971 human ensembl 69_37n +1 known missense c.134 p.R45Q 0.000 pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35 pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GLB1L3 HGNC ENSG00000166105 113 0 0.00 119 36 23.23 - - - KLHL21 0 genome.wustl.edu 37 1 6659504 6659504 + Missense_Mutation SNP C C T TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 1 6659504 6659504 C T SNP KLHL21 ENST00000377658 human ensembl 69_37n -1 known missense c.1030 p.D344N 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL21 HGNC ENSG00000162413 17 0 0.00 40 8 16.67 - - - MARVELD2 0 genome.wustl.edu 37 5 68728474 68728474 + Missense_Mutation SNP A A G TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 5 68728474 68728474 A G SNP MARVELD2 ENST00000325631 human ensembl 69_37n +1 known missense c.1303 p.K435E 0.991 NULL pfam_Occludin_RNApol2_elong_fac_ELL,pfam_MARVEL-like_dom - no_errors MARVELD2 HGNC ENSG00000152939 76 0 0.00 91 18 16.51 - - - NRK 0 genome.wustl.edu 37 X 105152945 105152945 + Nonsense_Mutation SNP C C T TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 X 105152945 105152945 C T SNP NRK ENST00000428173 human ensembl 69_37n +1 known nonsense c.1315 p.R439* 0.001 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors NRK HGNC ENSG00000123572 11 0 0.00 46 12 20.69 - - - ODZ4 0 genome.wustl.edu 37 11 78775887 78775887 + Missense_Mutation SNP C C T TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 11 78775887 78775887 C T SNP ODZ4 ENST00000278550 human ensembl 69_37n -1 known missense c.389 p.R130H 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ4 HGNC ENSG00000149256 14 0 0.00 14 5 26.32 - - - PCDHB7 0 genome.wustl.edu 37 5 140553401 140553401 + Missense_Mutation SNP G G A TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 5 140553401 140553401 G A SNP PCDHB7 ENST00000231137 human ensembl 69_37n +1 known missense c.985 p.G329R 0.008 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 51 0 0.00 56 19 25.33 - - - PHACTR3 0 genome.wustl.edu 37 20 58342410 58342410 + Silent SNP G G A TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 20 58342410 58342410 G A SNP PHACTR3 ENST00000371015 human ensembl 69_37n +1 known silent c.711 p.P237 0.667 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 19 0 0.00 14 4 22.22 - - - PIK3CA 0 genome.wustl.edu 37 3 178938934 178938934 + Missense_Mutation SNP G G A TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 3 178938934 178938934 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.2176 p.E726K 1.000 superfamily_Kinase-like_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 125 0 0.00 116 30 20.55 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 118 0 0.00 104 35 25.18 - - - REEP3 0 genome.wustl.edu 37 10 65380602 65380602 + Silent SNP G G T TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 10 65380602 65380602 G T SNP REEP3 ENST00000373758 human ensembl 69_37n +1 known silent c.741 p.V247 1.000 NULL pfam_TB2_DP1_HVA22 - no_errors REEP3 HGNC ENSG00000165476 187 0 0.00 155 37 19.27 - - - RLF 0 genome.wustl.edu 37 1 40705088 40705088 + Missense_Mutation SNP C C T TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 1 40705088 40705088 C T SNP RLF ENST00000372771 human ensembl 69_37n +1 known missense c.4714 p.R1572C 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 64 0 0.00 51 23 31.08 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037843 10037843 + RNA SNP C C T TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 Y 10037843 10037843 C T SNP RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 20 0 0.00 18 4 18.18 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037883 10037883 + RNA SNP G G A TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 Y 10037883 10037883 G A SNP RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 20 0 0.00 18 4 18.18 - - - SF3B1 0 genome.wustl.edu 37 2 198266493 198266493 + Missense_Mutation SNP A A T TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 2 198266493 198266493 A T SNP SF3B1 ENST00000335508 human ensembl 69_37n -1 known missense c.2343 p.D781E 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 353 0 0.00 179 43 19.37 - - - STAG1 0 genome.wustl.edu 37 3 136088052 136088052 + Nonsense_Mutation SNP G G A TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 3 136088052 136088052 G A SNP STAG1 ENST00000383202 human ensembl 69_37n -1 known nonsense c.2443 p.Q815* 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 112 0 0.00 88 45 33.83 - - - SUPT6H 0 genome.wustl.edu 37 17 27014157 27014157 + Missense_Mutation SNP C C T TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 17 27014157 27014157 C T SNP SUPT6H ENST00000314616 human ensembl 69_37n +1 known missense c.2752 p.R918W 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 32 0 0.00 49 25 33.78 - - - ZNF99 0 genome.wustl.edu 37 19 22940742 22940742 + Missense_Mutation SNP C C A TCGA-E2-A10F-01A-11D-A10M-09 TCGA-E2-A10F-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 530b7e22-e70a-46ef-a0e8-bf2ef814850a 2b190b7e-7bb6-46df-8e67-eef219faebd6 19 22940742 22940742 C A SNP ZNF99 ENST00000397104 human ensembl 69_37n -1 known missense c.1696 p.A566S 0.824 pfam_Znf_C2H2,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 ZNF99 HGNC ENSG00000213973 75 0 0.00 56 30 34.88 - - -