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 ANKRD30BL 0 genome.wustl.edu 37 2 133015110 133015110 + RNA DEL G G - TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 2 133015110 133015110 G - DEL ANKRD30BL ENST00000470729 human ensembl 69_37n -1 known rna NULL NULL 0.004 - - - no_errors ANKRD30BL HGNC ENSG00000163046 8 0 0.00 6 3 33.33 - - - ANKRD36B 0 genome.wustl.edu 37 2 98177305 98177305 + RNA SNP C C G TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 2 98177305 98177305 C G SNP ANKRD36B ENST00000419390 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ANKRD36B HGNC ENSG00000196912 23 0 0.00 11 9 45.00 - - - ATP13A4 0 genome.wustl.edu 37 3 193174859 193174859 + Nonsense_Mutation SNP C C T TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 3 193174859 193174859 C T SNP ATP13A4 ENST00000428352 human ensembl 69_37n -1 known nonsense c.764 p.W255* 0.988 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr 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,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATP13A4 HGNC ENSG00000127249 32 0 0.00 13 15 53.57 - - - COL27A1 0 genome.wustl.edu 37 9 117038016 117038016 + Frame_Shift_Del DEL C C - TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 9 117038016 117038016 C - DEL COL27A1 ENST00000356083 human ensembl 69_37n +1 known frame_shift_del c.3685 p.G1231fs 0.998 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 12 0 0.00 10 2 16.67 - - - CRIM1 0 genome.wustl.edu 37 2 36740755 36740755 + Missense_Mutation SNP G G A TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 2 36740755 36740755 G A SNP CRIM1 ENST00000280527 human ensembl 69_37n +1 known missense c.1837 p.G613S 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,pfam_Prot_inh_I15_antistasin-like,superfamily_Prot_inh_I14/15_hirudin/antisn,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 39 0 0.00 24 8 25.00 - - - CYP11B2 0 genome.wustl.edu 37 8 143998609 143998609 + Silent SNP G G A TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 8 143998609 143998609 G A SNP CYP11B2 ENST00000323110 human ensembl 69_37n -1 known silent c.261 p.R87 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 53 0 0.00 79 23 22.55 - - - DIAPH2 0 genome.wustl.edu 37 X 96684718 96684718 + Missense_Mutation SNP G G A TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 X 96684718 96684718 G A SNP DIAPH2 ENST00000324765 human ensembl 69_37n +1 known missense c.3215 p.R1072H 1.000 NULL pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH2 HGNC ENSG00000147202 43 0 0.00 39 11 22.00 - - - FRRS1 0 genome.wustl.edu 37 1 100177672 100177672 + Missense_Mutation SNP C C T TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 1 100177672 100177672 C T SNP FRRS1 ENST00000287474 human ensembl 69_37n -1 known missense c.1469 p.R490K 1.000 smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors FRRS1 HGNC ENSG00000156869 71 0 0.00 48 21 30.43 - - - GGT3P 0 genome.wustl.edu 37 22 18769203 18769203 + RNA SNP G G A TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 22 18769203 18769203 G A SNP GGT3P ENST00000412448 human ensembl 69_37n -1 known rna NULL NULL 0.149 - - - no_errors GGT3P HGNC ENSG00000197421 37 0 0.00 21 6 22.22 - - - ITPR1 0 genome.wustl.edu 37 3 4774809 4774809 + Missense_Mutation SNP A A G TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 3 4774809 4774809 A G SNP ITPR1 ENST00000302640 human ensembl 69_37n +1 known missense c.5213 p.Y1738C 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 41 0 0.00 22 11 33.33 - - - KIF26A 0 genome.wustl.edu 37 14 104641403 104641403 + Missense_Mutation SNP C C T TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 14 104641403 104641403 C T SNP KIF26A ENST00000423312 human ensembl 69_37n +1 known missense c.2278 p.R760C 0.956 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 14 0 0.00 5 5 50.00 - - - MAP3K1 0 genome.wustl.edu 37 5 56178143 56178144 + Frame_Shift_Ins INS - - A TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 5 56178143 56178144 - A INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.3116_3117 p.D1040fs 1.000:0.996 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 25 0 0.00 11 8 42.11 - - - MBTD1 0 genome.wustl.edu 37 17 49270817 49270817 + Missense_Mutation SNP A A G TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 17 49270817 49270817 A G SNP MBTD1 ENST00000415868 human ensembl 69_37n -1 known missense c.1427 p.I476T 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors MBTD1 HGNC ENSG00000011258 45 0 0.00 26 13 33.33 - - - MEGF8 0 genome.wustl.edu 37 19 42848602 42848602 + Missense_Mutation SNP G G A TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 19 42848602 42848602 G A SNP MEGF8 ENST00000251268 human ensembl 69_37n +1 known missense c.1798 p.A600T 0.805 smart_Plexin-like pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 19 0 0.00 8 7 46.67 - - - NLGN3 0 genome.wustl.edu 37 X 70389880 70389880 + Missense_Mutation SNP A A C TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 X 70389880 70389880 A C SNP NLGN3 ENST00000358741 human ensembl 69_37n +1 known missense c.2480 p.Y827S 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 36 0 0.00 14 6 30.00 - - - PLEKHG2 0 genome.wustl.edu 37 19 39905892 39905892 + Missense_Mutation SNP A A T TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 19 39905892 39905892 A T SNP PLEKHG2 ENST00000409794 human ensembl 69_37n +1 known missense c.370 p.I124F 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG2 HGNC ENSG00000090924 20 0 0.00 7 7 50.00 - - - PNPLA8 0 genome.wustl.edu 37 7 108155179 108155179 + Missense_Mutation SNP T T C TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 7 108155179 108155179 T C SNP PNPLA8 ENST00000257694 human ensembl 69_37n -1 known missense c.757 p.I253V 0.000 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold - no_errors PNPLA8 HGNC ENSG00000135241 49 0 0.00 28 18 39.13 - - - PRPF4B 0 genome.wustl.edu 37 6 4056666 4056666 + Missense_Mutation SNP A A G TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 6 4056666 4056666 A G SNP PRPF4B ENST00000337659 human ensembl 69_37n +1 known missense c.2578 p.I860V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PRPF4B HGNC ENSG00000112739 76 0 0.00 55 25 31.25 - - - PRPF8 0 genome.wustl.edu 37 17 1576724 1576724 + Missense_Mutation SNP C C T TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 17 1576724 1576724 C T SNP PRPF8 ENST00000304992 human ensembl 69_37n -1 known missense c.3584 p.R1195H 1.000 superfamily_Cupredoxin pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC ENSG00000174231 38 0 0.00 36 4 10.00 - - - SMCHD1 0 genome.wustl.edu 37 18 2707824 2707827 + Frame_Shift_Del DEL ACTG ACTG - TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 ACTG ACTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 18 2707824 2707827 ACTG - DEL SMCHD1 ENST00000320876 human ensembl 69_37n +1 known frame_shift_del c.2166_2169 p.L723fs 1.000:0.999:1.000:1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 30 0 0.00 23 3 11.54 - - - TIPARP 0 genome.wustl.edu 37 3 156396272 156396272 + Silent SNP T T A TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 3 156396272 156396272 T A SNP TIPARP ENST00000295924 human ensembl 69_37n +1 known silent c.786 p.T262 0.105 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors TIPARP HGNC ENSG00000163659 37 0 0.00 27 7 20.59 - - - WDR76 0 genome.wustl.edu 37 15 44158472 44158472 + Missense_Mutation SNP G G T TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 15 44158472 44158472 G T SNP WDR76 ENST00000263795 human ensembl 69_37n +1 known missense c.1763 p.G588V 0.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR76 HGNC ENSG00000092470 68 0 0.00 50 14 21.88 - - - ZDBF2 0 genome.wustl.edu 37 2 207170549 207170549 + Missense_Mutation SNP G G A TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eef5cea9-82f6-4001-8e2c-701e43a9787a 9363f17c-f3ba-4219-8de9-15f0cf99dcd2 2 207170549 207170549 G A SNP ZDBF2 ENST00000374423 human ensembl 69_37n +1 known missense c.1297 p.E433K 0.016 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 33 0 0.00 27 9 25.00 - - -