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 ACRBP 0 genome.wustl.edu 37 12 6753643 6753643 + Missense_Mutation SNP C C T TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 12 6753643 6753643 C T SNP ACRBP ENST00000229243 human ensembl 69_37n -1 known missense c.604 p.E202K 0.120 pfam_Proacrosin-bd pfam_Proacrosin-bd - no_errors ACRBP HGNC ENSG00000111644 133 0 0.00 177 35 16.51 - - - ARL6IP6 0 genome.wustl.edu 37 2 153591548 153591548 + Silent SNP C C T TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 2 153591548 153591548 C T SNP ARL6IP6 ENST00000326446 human ensembl 69_37n +1 known silent c.495 p.F165 1.000 NULL NULL - no_errors ARL6IP6 HGNC ENSG00000177917 62 0 0.00 49 9 15.52 - - - BEST3 0 genome.wustl.edu 37 12 70072563 70072563 + Nonsense_Mutation SNP C C A TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 12 70072563 70072563 C A SNP BEST3 ENST00000330891 human ensembl 69_37n -1 known nonsense c.592 p.E198* 1.000 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 66 0 0.00 80 11 12.09 - - - C9orf43 0 genome.wustl.edu 37 9 116187646 116187648 + In_Frame_Del DEL GCA GCA - TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 9 116187646 116187648 GCA - DEL C9orf43 ENST00000288462 human ensembl 69_37n +1 known in_frame_del c.888_890 p.Q300in_frame_del 0.211:0.207:0.211 NULL NULL - no_errors C9orf43 HGNC ENSG00000157653 47 0 0.00 31 4 11.43 - - - CECR2 0 genome.wustl.edu 37 22 18018340 18018340 + Missense_Mutation SNP G G A TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 22 18018340 18018340 G A SNP CECR2 ENST00000400573 human ensembl 69_37n +1 novel missense c.1222 p.V408I 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 93 0 0.00 97 11 10.19 - - - CUL7 0 genome.wustl.edu 37 6 43018789 43018789 + Missense_Mutation SNP G G A TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 6 43018789 43018789 G A SNP CUL7 ENST00000535468 human ensembl 69_37n -1 known missense c.1402 p.R468W 1.000 pfam_CPH_domain pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 46 0 0.00 42 5 10.64 - - - DDX53 0 genome.wustl.edu 37 X 23018658 23018658 + Missense_Mutation SNP G G A TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 X 23018658 23018658 G A SNP DDX53 ENST00000327968 human ensembl 69_37n +1 known missense c.484 p.E162K 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX53 HGNC ENSG00000184735 47 0 0.00 38 9 19.15 - - - DUSP27 0 genome.wustl.edu 37 1 167097747 167097747 + Missense_Mutation SNP G G A TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 1 167097747 167097747 G A SNP DUSP27 ENST00000271385 human ensembl 69_37n +1 known missense c.3379 p.E1127K 0.989 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 13 0 0.00 13 4 23.53 - - - EPPK1 0 genome.wustl.edu 37 8 144940615 144940615 + Silent SNP G G A TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 8 144940615 144940615 G A SNP EPPK1 ENST00000525985 human ensembl 69_37n -1 known silent c.6807 p.T2269 0.242 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 39 0 0.00 36 6 14.29 - - - EXT2 0 genome.wustl.edu 37 11 44129420 44129420 + Missense_Mutation SNP C C T TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 11 44129420 44129420 C T SNP EXT2 ENST00000395673 human ensembl 69_37n +1 known missense c.257 p.S86L 0.998 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT2 HGNC ENSG00000151348 76 0 0.00 68 10 12.82 - - - FIGN 0 genome.wustl.edu 37 2 164468287 164468287 + Missense_Mutation SNP C C A TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 2 164468287 164468287 C A SNP FIGN ENST00000333129 human ensembl 69_37n -1 known missense c.55 p.A19S 1.000 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 25 0 0.00 20 5 20.00 - - - H2AFZ 0 genome.wustl.edu 37 4 100870052 100870052 + Missense_Mutation SNP G G A TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 4 100870052 100870052 G A SNP H2AFZ ENST00000296417 human ensembl 69_37n -1 known missense c.241 p.R81C 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFZ HGNC ENSG00000164032 52 0 0.00 52 8 13.33 - - - HMGB2 0 genome.wustl.edu 37 4 174254704 174254704 + Missense_Mutation SNP C C T TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 4 174254704 174254704 C T SNP HMGB2 ENST00000296503 human ensembl 69_37n -1 known missense c.97 p.D33N 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGB2 HGNC ENSG00000164104 42 0 0.00 30 6 16.67 - - - IGHV1-24 0 genome.wustl.edu 37 14 106733410 106733410 + Missense_Mutation SNP C C T TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 14 106733410 106733410 C T SNP IGHV1-24 ENST00000390610 human ensembl 69_37n -1 known missense c.85 p.E29K 0.832 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV1-24 HGNC ENSG00000211950 48 0 0.00 60 16 21.05 - - - INPP5F 0 genome.wustl.edu 37 10 121563758 121563758 + Frame_Shift_Del DEL T T - TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 10 121563758 121563758 T - DEL INPP5F ENST00000361976 human ensembl 69_37n +1 known frame_shift_del c.1190 p.F398fs 1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 65 0 0.00 47 8 14.29 - - - KDM5B 0 genome.wustl.edu 37 1 202743781 202743781 + Missense_Mutation SNP T T C TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 1 202743781 202743781 T C SNP KDM5B ENST00000367265 human ensembl 69_37n -1 known missense c.365 p.H122R 0.999 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 43 0 0.00 64 11 14.67 - - - KIF2A 0 genome.wustl.edu 37 5 61643897 61643897 + Missense_Mutation SNP C C T TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 5 61643897 61643897 C T SNP KIF2A ENST00000407818 human ensembl 69_37n +1 known missense c.182 p.S61L 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2A HGNC ENSG00000068796 54 0 0.00 54 11 16.92 - - - KITLG 0 genome.wustl.edu 37 12 88939633 88939633 + Missense_Mutation SNP G G A TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 12 88939633 88939633 G A SNP KITLG ENST00000228280 human ensembl 69_37n -1 known missense c.25 p.L9F 1.000 pfam_SCF,pirsf_SCF pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF - no_errors KITLG HGNC ENSG00000049130 34 0 0.00 25 6 19.35 - - - KPNA5 0 genome.wustl.edu 37 6 117013507 117013507 + Missense_Mutation SNP G G A TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 6 117013507 117013507 G A SNP KPNA5 ENST00000356348 human ensembl 69_37n +1 known missense c.292 p.D98N 1.000 superfamily_ARM-type_fold pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA5 HGNC ENSG00000196911 64 0 0.00 51 13 20.31 - - - KRT86 0 genome.wustl.edu 37 12 52700027 52700027 + Missense_Mutation SNP G G A TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 12 52700027 52700027 G A SNP KRT86 ENST00000293525 human ensembl 69_37n +1 known missense c.1210 p.A404T 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors AC021066.1 Clone_based_ensembl_gene ENSG00000170442 39 0 0.00 18 10 35.71 - - - LAMA2 0 genome.wustl.edu 37 6 129722392 129722392 + Silent SNP C C T TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 6 129722392 129722392 C T SNP LAMA2 ENST00000421865 human ensembl 69_37n +1 known silent c.5469 p.S1823 0.999 pfam_Laminin_I pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 31 0 0.00 28 5 15.15 - - - MIR195 0 genome.wustl.edu 37 17 6921010 6921010 + RNA DEL C C - TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 17 6921010 6921010 C - DEL MIR195 ENST00000385194 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors MIR195 HGNC ENSG00000207929 18 0 0.00 3 2 40.00 - - - MLL3 0 genome.wustl.edu 37 7 151879568 151879568 + Missense_Mutation SNP G G A TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 7 151879568 151879568 G A SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known missense c.5377 p.L1793F 0.058 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 19 0 0.00 20 7 25.93 - - - MTO1 0 genome.wustl.edu 37 6 74176211 74176211 + Splice_Site SNP G G A TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 6 74176211 74176211 G A SNP MTO1 ENST00000415954 human ensembl 69_37n +1 known splice_site c.418-1 e3-1 1.000 - - - no_errors MTO1 HGNC ENSG00000135297 48 0 0.00 48 8 14.29 - - - MUC16 0 genome.wustl.edu 37 19 9072222 9072222 + Missense_Mutation SNP C C A TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 19 9072222 9072222 C A SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.15224 p.G5075V 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 47 0 0.00 36 11 23.40 - - - MUC5B 0 genome.wustl.edu 37 11 1266400 1266400 + Missense_Mutation SNP C C A TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 11 1266400 1266400 C A SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known missense c.8299 p.P2767T 0.004 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 28 0 0.00 27 9 25.00 - - - PHF13 0 genome.wustl.edu 37 1 6676836 6676836 + Missense_Mutation SNP A A C TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 1 6676836 6676836 A C SNP PHF13 ENST00000377648 human ensembl 69_37n +1 known missense c.59 p.K20T 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF13 HGNC ENSG00000116273 54 0 0.00 34 12 26.09 - - - PLXNA4 0 genome.wustl.edu 37 7 131831430 131831430 + Missense_Mutation SNP C C T TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 7 131831430 131831430 C T SNP PLXNA4 ENST00000321063 human ensembl 69_37n -1 known missense c.4894 p.D1632N 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC ENSG00000221866 39 0 0.00 47 7 12.96 - - - PPFIBP2 0 genome.wustl.edu 37 11 7672087 7672087 + Missense_Mutation SNP C C T TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 11 7672087 7672087 C T SNP PPFIBP2 ENST00000299492 human ensembl 69_37n +1 known missense c.2138 p.S713L 1.000 superfamily_SAM/pointed 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 70 0 0.00 52 16 23.53 - - - PROP1 0 genome.wustl.edu 37 5 177420032 177420032 + Missense_Mutation SNP C C T TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 5 177420032 177420032 C T SNP PROP1 ENST00000308304 human ensembl 69_37n -1 known missense c.359 p.R120H 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif - no_errors PROP1 HGNC ENSG00000175325 50 0 0.00 45 22 32.84 - - - PTPRD 0 genome.wustl.edu 37 9 8471022 8471022 + Silent SNP C C T TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 9 8471022 8471022 C T SNP PTPRD ENST00000356435 human ensembl 69_37n -1 known silent c.3477 p.E1159 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 85 0 0.00 58 10 14.71 - - - RIT2 0 genome.wustl.edu 37 18 40323522 40323522 + Missense_Mutation SNP C C T TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 18 40323522 40323522 C T SNP RIT2 ENST00000326695 human ensembl 69_37n -1 known missense c.590 p.R197K 1.000 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT2 HGNC ENSG00000152214 63 0 0.00 52 12 18.75 - - - SFMBT2 0 genome.wustl.edu 37 10 7262382 7262382 + Missense_Mutation SNP G G A TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 10 7262382 7262382 G A SNP SFMBT2 ENST00000361972 human ensembl 69_37n -1 known missense c.1321 p.H441Y 0.996 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 33 0 0.00 46 9 16.36 - - - SKOR1 0 genome.wustl.edu 37 15 68118729 68118729 + Missense_Mutation SNP C C T TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 15 68118729 68118729 C T SNP SKOR1 ENST00000380035 human ensembl 69_37n +1 known missense c.563 p.A188V 1.000 pfam_c-SKI_SMAD4-bd_dom,superfamily_SAND_dom-like pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 28 0 0.00 13 5 27.78 - - - SPPL2C 0 genome.wustl.edu 37 17 43922887 43922887 + Silent SNP C C T TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 17 43922887 43922887 C T SNP SPPL2C ENST00000329196 human ensembl 69_37n +1 known silent c.615 p.A205 0.246 NULL pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Peptidase_A22 - no_errors SPPL2C HGNC ENSG00000185294 18 0 0.00 11 6 35.29 - - - ST7 0 genome.wustl.edu 37 7 116593630 116593630 + Silent SNP C C T TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 7 116593630 116593630 C T SNP ST7 ENST00000265437 human ensembl 69_37n +1 known silent c.36 p.L12 1.000 NULL pfam_ST7 - no_errors ST7 HGNC ENSG00000004866 53 0 0.00 50 19 27.54 - - - TP73 0 genome.wustl.edu 37 1 3599659 3599659 + Missense_Mutation SNP C C T TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 1 3599659 3599659 C T SNP TP73 ENST00000378295 human ensembl 69_37n +1 known missense c.101 p.S34L 0.589 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC ENSG00000078900 45 0 0.00 40 6 13.04 - - - TPH1 0 genome.wustl.edu 37 11 18044348 18044348 + Frame_Shift_Del DEL A A - TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 11 18044348 18044348 A - DEL TPH1 ENST00000341556 human ensembl 69_37n -1 known frame_shift_del c.1157 p.M386fs 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH1 HGNC ENSG00000129167 37 0 0.00 18 2 10.00 - - - UBE2QL1 0 genome.wustl.edu 37 5 6491344 6491344 + Missense_Mutation SNP G G A TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 5 6491344 6491344 G A SNP UBE2QL1 ENST00000399816 human ensembl 69_37n +1 known missense c.368 p.R123K 1.000 superfamily_UBQ-conjugating_enzyme/RWD pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2QL1 HGNC ENSG00000215218 44 0 0.00 27 8 22.86 - - - ZNF91 0 genome.wustl.edu 37 19 23543097 23543097 + Missense_Mutation SNP G G A TCGA-A1-A0SF-01A-11D-A142-09 TCGA-A1-A0SF-10B-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b291200e-3c22-411a-85d0-fbe1570acda2 cc8ae8d4-315d-492a-84e9-7ed8630e9c70 19 23543097 23543097 G A SNP ZNF91 ENST00000300619 human ensembl 69_37n -1 known missense c.2684 p.S895L 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 ZNF91 HGNC ENSG00000167232 52 0 0.00 36 22 37.93 - - -