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 MYADML 0 genome.wustl.edu 37 2 33952223 33952223 + R SNP G G T TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 2 33952223 33952223 G T SNP MYADML ENST00000474610 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MYADML HGNC ENSG00000239649 tier1 - - 43 0 0.00 33 8 19.51 116 0 0.00 81 13 13.83 CEP350 0 genome.wustl.edu 37 1 179966060 179966060 + Silent SNP C C T TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 1 179966060 179966060 C T SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known silent c.768 p.D256 0.938 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 tier1 - - 39 0 0.00 63 10 13.70 107 0 0.00 148 23 13.45 NME1-NME2 0 genome.wustl.edu 37 17 49245607 49245607 + Missense_Mutation SNP C C G TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 17 49245607 49245607 C G SNP NME1-NME2 ENST00000608447 human ensembl 74_37 +1 known missense c.551 p.S184C 0.999 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME1-NME2 HGNC ENSG00000243678 tier1 - - 66 0 0.00 93 15 13.89 113 0 0.00 113 23 16.79 RASGEF1C 0 genome.wustl.edu 37 5 179528441 179528441 + R SNP G G A TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 5 179528441 179528441 G A SNP RASGEF1C ENST00000519456 human ensembl 74_37 -1 known rna NULL NULL 0.918 - - - no_errors RASGEF1C HGNC ENSG00000146090 tier1 - - 57 0 0.00 23 8 25.00 20 0 0.00 19 6 24.00 CCNT2 0 genome.wustl.edu 37 2 135694493 135694493 + Missense_Mutation SNP A A G TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 2 135694493 135694493 A G SNP CCNT2 ENST00000264157 human ensembl 74_37 +1 known missense c.323 p.H108R 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT2 HGNC ENSG00000082258 tier1 - - 21 0 0.00 32 18 36.00 94 0 0.00 92 52 35.86 OBSCN 0 genome.wustl.edu 37 1 228401199 228401199 + Missense_Mutation SNP C C T TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 1 228401199 228401199 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.1046 p.S349L 0.992 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 70 0 0.00 34 20 37.04 39 0 0.00 25 11 30.56 ANKRA2 0 genome.wustl.edu 37 5 72858439 72858439 + Missense_Mutation SNP C C T TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 5 72858439 72858439 C T SNP ANKRA2 ENST00000296785 human ensembl 74_37 -1 known missense c.268 p.V90M 1.000 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 ANKRA2 HGNC ENSG00000164331 tier1 - - 68 0 0.00 62 22 26.19 97 0 0.00 58 22 27.50 ANKRD36BP1 0 genome.wustl.edu 37 1 168215941 168215941 + R SNP G G C TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 1 168215941 168215941 G C SNP ANKRD36BP1 ENST00000358576 human ensembl 74_37 -1 known rna NULL NULL 0.987 - - - no_errors ANKRD36BP1 HGNC ENSG00000214262 tier1 - - 68 0 0.00 103 20 16.26 106 0 0.00 189 30 13.70 CUL4B 0 genome.wustl.edu 37 X 119670866 119670866 + Silent SNP C C G TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a X 119670866 119670866 C G SNP CUL4B ENST00000404115 human ensembl 74_37 -1 known silent c.2016 p.P672 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 tier1 - - 31 0 0.00 6 32 84.21 41 0 0.00 15 37 71.15 EPHX1 0 genome.wustl.edu 37 1 226026987 226026987 + Missense_Mutation SNP A A G TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 1 226026987 226026987 A G SNP EPHX1 ENST00000272167 human ensembl 74_37 +1 known missense c.662 p.Y221C 0.992 pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like - no_errors EPHX1 HGNC ENSG00000143819 tier1 - - 69 0 0.00 36 19 34.55 44 0 0.00 16 13 44.83 PRKDC 0 genome.wustl.edu 37 8 48739410 48739410 + Nonsense_Mutation SNP G G A TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 8 48739410 48739410 G A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known nonsense c.8587 p.Q2863* 0.998 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 tier1 - - 96 0 0.00 23 6 20.69 56 0 0.00 18 2 10.00 A2MP1 0 genome.wustl.edu 37 12 9416382 9416382 + R SNP T T C TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 12 9416382 9416382 T C SNP A2MP1 ENST00000544183 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors A2MP1 HGNC ENSG00000256069 tier1 - - 80 0 0.00 52 14 21.21 95 0 0.00 67 22 24.44 MYH3 0 genome.wustl.edu 37 17 10541189 10541189 + Nonsense_Mutation SNP C C A TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 17 10541189 10541189 C A SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known nonsense c.3793 p.E1265* 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 tier1 - - 59 0 0.00 11 7 38.89 118 0 0.00 21 16 43.24 LCN 0 genome.wustl.edu 37 13 101763479 101763479 + Missense_Mutation SNP C C T TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 13 101763479 101763479 C T SNP LCN ENST00000251127 human ensembl 74_37 -1 known missense c.2291 p.R764H 1.000 NULL pfam_Ion_trans_dom - no_errors LCN HGNC ENSG00000102452 tier1 - - 45 0 0.00 10 34 77.27 68 0 0.00 10 36 78.26 SCUBE1 0 genome.wustl.edu 37 22 43600071 43600071 + Missense_Mutation SNP T T C TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 22 43600071 43600071 T C SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known missense c.2899 p.M967V 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 tier1 - - 71 0 0.00 48 15 23.81 141 0 0.00 100 22 18.03 MYH3 0 genome.wustl.edu 37 17 10541190 10541190 + Missense_Mutation SNP A A T TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 17 10541190 10541190 A T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.3792 p.N1264K 0.050 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 tier1 - - 59 0 0.00 11 7 38.89 117 0 0.00 21 17 44.74 MAT2B 0 genome.wustl.edu 37 5 162943725 162943725 + Missense_Mutation SNP G G C TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 5 162943725 162943725 G C SNP MAT2B ENST00000518095 human ensembl 74_37 +1 known missense c.728 p.R243T 0.000 NULL pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_Polysac_CapD-like - no_errors MAT2B HGNC ENSG00000038274 tier1 - - 60 0 0.00 43 17 28.33 82 0 0.00 86 21 19.63 MYBPC2 0 genome.wustl.edu 37 19 50962526 50962526 + Missense_Mutation SNP C C G TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 19 50962526 50962526 C G SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known missense c.2754 p.N918K 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 tier1 - - 51 0 0.00 30 6 16.67 16 0 0.00 17 5 21.74 SURF6 0 genome.wustl.edu 37 9 136199122 136199122 + Missense_Mutation SNP C C A TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 9 136199122 136199122 C A SNP SURF6 ENST00000372022 human ensembl 74_37 -1 known missense c.669 p.R223S 0.187 pfam_Surf6 pfam_Surf6 - no_errors SURF6 HGNC ENSG00000148296 tier1 - - 25 0 0.00 21 10 32.26 34 0 0.00 32 20 37.74 GRIA4 0 genome.wustl.edu 37 11 105850542 105850542 + R SNP C C T TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 11 105850542 105850542 C T SNP GRIA4 ENST00000533094 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors GRIA4 HGNC ENSG00000152578 tier1 - - 26 0 0.00 13 10 43.48 83 0 0.00 58 29 33.33 ENSG00000268845 0 genome.wustl.edu 37 19 6954619 6954619 + R SNP T T C TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 19 6954619 6954619 T C SNP ENSG00000268845 ENST00000593558 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors RP11-1137G4.3 Clone_based_vega_gene ENSG00000268845 tier1 - - 84 0 0.00 128 27 17.42 166 0 0.00 125 44 25.88 ABCB1 0 genome.wustl.edu 37 7 87214969 87214969 + Silent SNP A A G TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 7 87214969 87214969 A G SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known silent c.145 p.L49 0.210 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 tier1 - - 46 0 0.00 23 6 20.00 118 0 0.00 80 22 21.57 NRXN2 0 genome.wustl.edu 37 11 64374700 64374700 + Missense_Mutation SNP T T C TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 11 64374700 64374700 T C SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.5107 p.K1703E 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 tier1 - - 37 0 0.00 34 12 26.09 30 0 0.00 27 4 12.90 LPXN 0 genome.wustl.edu 37 11 58338061 58338061 + Missense_Mutation SNP G G T TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 11 58338061 58338061 G T SNP LPXN ENST00000528954 human ensembl 74_37 -1 known missense c.154 p.L52I 0.000 pirsf_Leupaxin pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors LPXN HGNC ENSG00000110031 tier1 - - 41 0 0.00 31 11 26.19 78 0 0.00 81 25 23.58 KLRG1 0 genome.wustl.edu 37 12 9162633 9162633 + R SNP C C G TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 12 9162633 9162633 C G SNP KLRG1 ENST00000538029 human ensembl 74_37 +1 known rna NULL NULL 0.149 - - - no_errors KLRG1 HGNC ENSG00000139187 tier1 - - 11 0 0.00 16 7 30.43 58 0 0.00 25 13 34.21 DH9 0 genome.wustl.edu 37 17 11593505 11593505 + Missense_Mutation SNP C C T TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 17 11593505 11593505 C T SNP DH9 ENST00000262442 human ensembl 74_37 +1 known missense c.4366 p.R1456W 0.951 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH9 HGNC ENSG00000007174 tier1 rs141375188 - 66 0 0.00 25 26 50.98 131 0 0.00 23 42 63.64 SAMD9 0 genome.wustl.edu 37 7 92735360 92735360 + Silent SNP C C T TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 7 92735360 92735360 C T SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known silent c.51 p.E17 0.768 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 tier1 - - 56 0 0.00 39 5 11.36 122 0 0.00 41 28 40.58 PLCB4 0 genome.wustl.edu 37 20 9404506 9404506 + Missense_Mutation SNP A A C TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 20 9404506 9404506 A C SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known missense c.2395 p.I799L 1.000 pirsf_PLC-beta,superfamily_C2_dom,smart_C2_dom pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 tier1 - - 60 0 0.00 37 17 30.91 136 1 0.73 62 34 35.42 LAMC3 0 genome.wustl.edu 37 9 133954581 133954581 + Silent SNP C C T TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 9 133954581 133954581 C T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known silent c.3823 p.L1275 0.318 NULL pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 tier1 - - 61 0 0.00 54 28 34.15 27 0 0.00 29 13 30.95 SOX4 0 genome.wustl.edu 37 6 21595992 21595992 + Frame_Shift_Del DEL C C - TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 6 21595992 21595992 C - DEL SOX4 ENST00000244745 human ensembl 74_37 +1 known frame_shift_del c.1227 p.S411fs 1.000 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX4 HGNC ENSG00000124766 tier1 95 0 0.00 50 51 50.50 91 0 0.00 47 49 51.04 CTTN 0 genome.wustl.edu 37 11 70265954 70265954 + Frame_Shift_Del DEL C C - TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 11 70265954 70265954 C - DEL CTTN ENST00000301843 human ensembl 74_37 +1 known frame_shift_del c.671 p.Q225fs 1.000 pfam_Hs1_Cortactin,pfscan_Hs1_Cortactin pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors CTTN HGNC ENSG00000085733 tier1 64 0 0.00 50 23 31.51 148 0 0.00 82 28 25.45 DBF4B 0 genome.wustl.edu 37 17 42828395 42828395 + Frame_Shift_Del DEL T T - TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 17 42828395 42828395 T - DEL DBF4B ENST00000315005 human ensembl 74_37 +1 known frame_shift_del c.1622 p.G542fs 0.001 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4B HGNC ENSG00000161692 tier1 65 0 0.00 73 22 23.16 92 0 0.00 75 13 14.77 ANKRD20A8P 0 genome.wustl.edu 37 2 95494915 95494915 + R SNP C C T TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 2 95494915 95494915 C T SNP ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.911 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 tier1 - - 244 0 0.00 240 63 20.72 0 0 0.00 0 0 0.00 DDX11L9 0 genome.wustl.edu 37 15 102516816 102516816 + R SNP G G T TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 15 102516816 102516816 G T SNP DDX11L9 ENST00000559159 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DDX11L9 HGNC ENSG00000248472 tier1 - - 13 0 0.00 12 5 29.41 0 0 0.00 0 0 0.00 ENSG00000221281 0 genome.wustl.edu 37 6 67069388 67069389 + R INS - - ACACACACACAT TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 6 67069388 67069389 - ACACACACACAT INS ENSG00000221281 ENST00000408354 human ensembl 74_37 +1 novel rna NULL NULL 0.005:0.011 - - - no_errors AC002485.1 Clone_based_ensembl_gene ENSG00000221281 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000265002 0 genome.wustl.edu 37 15 20563423 20563423 + R DEL C C - TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 15 20563423 20563423 C - DEL ENSG00000265002 ENST00000581090 human ensembl 74_37 +1 novel rna NULL NULL 0.102 - - - no_errors AC026495.1 Clone_based_ensembl_gene ENSG00000265002 tier1 44 0 0.00 35 6 14.63 2 0 0.00 7 0 0.00 LOC388882 0 genome.wustl.edu 37 22 23825282 23825282 + R SNP C C T TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 22 23825282 23825282 C T SNP LOC388882 ENST00000320372 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AP000345.1 Clone_based_vega_gene ENSG00000178248 tier1 - - 313 1 0.32 249 70 21.94 0 0 0.00 0 0 0.00 POTEM 0 genome.wustl.edu 37 14 20012819 20012822 + Frame_Shift_Del DEL AAAG AAAG - TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 AAAG AAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 14 20012819 20012822 AAAG - DEL POTEM ENST00000547722 human ensembl 74_37 -1 known frame_shift_del c.937_934 p.I314fs 0.009:0.013:0.017:0.020 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 POTEM HGNC ENSG00000187537 tier1 42 0 0.00 52 8 13.33 0 0 0.00 0 0 0.00 C3orf55 0 genome.wustl.edu 37 3 157318056 157318056 + Missense_Mutation SNP G G T TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 3 157318056 157318056 G T SNP C3orf55 ENST00000449199 human ensembl 74_37 +1 known missense c.377 p.C126F 0.000 NULL NULL - no_errors C3orf55 HGNC ENSG00000174899 tier1 - - 64 0 0.00 35 4 10.26 128 0 0.00 106 2 1.85 SEC14L5 0 genome.wustl.edu 37 16 5061242 5061242 + Nonsense_Mutation SNP C C A TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 16 5061242 5061242 C A SNP SEC14L5 ENST00000251170 human ensembl 74_37 +1 known nonsense c.1947 p.Y649* 1.000 superfamily_GOLD,pfscan_GOLD pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 tier1 - - 81 0 0.00 60 12 16.67 46 0 0.00 34 3 8.11 HUWE1 0 genome.wustl.edu 37 X 53589091 53589093 + In_Frame_Del DEL TCC TCC - TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a X 53589091 53589093 TCC - DEL HUWE1 ENST00000262854 human ensembl 74_37 -1 known in_frame_del c.7319_7317 p.E2440in_frame_del 1.000:1.000:1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 27 0 0.00 20 3 13.04 25 0 0.00 43 2 4.44 NFAT5 0 genome.wustl.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 307db8e1-7146-4506-b618-eba5076a6860 9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a 16 69726420 69726422 CAG - DEL NFAT5 ENST00000432919 human ensembl 74_37 +1 known in_frame_del c.2692_2694 p.Q901in_frame_del 0.966:0.976:0.988 NULL pfam_RHD,superfamily_p53-like_TF_D-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 tier1 26 0 0.00 20 3 13.04 42 0 0.00 55 3 5.17