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 rsID rsID_ref_var_alleles CAF normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumor_var_reads tumor_vaf normal_ref_reads_val normal_var_reads_val normal_vaf_val tumor_ref_reads_val tumor_var_reads_val tumor_vaf_val GPR112 0 genome.wustl.edu 37 X 135427620 135427620 + Silent SNP T T C TCGA-ZB-A96Q-01A-11D-A428-09 TCGA-ZB-A96Q-10A-01D-A42B-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db163fe-386d-4492-a269-6288aa6cba9f 4d446598-e198-464c-b665-589a2857cedf X 135427620 135427620 T C SNP GPR112 ENST00000370652 human ensembl 74_37 1 known silent c.1755 p.T585 0 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like 0 no_errors 0 0 0 33 0 0 20 7 25.93 98 0 0.00 66 31 31.96 SCN2A 0 genome.wustl.edu 37 2 166188030 166188030 + Silent SNP C C T TCGA-ZB-A96Q-01A-11D-A428-09 TCGA-ZB-A96Q-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db163fe-386d-4492-a269-6288aa6cba9f 4d446598-e198-464c-b665-589a2857cedf 2 166188030 166188030 C T SNP SCN2A ENST00000283256 human ensembl 74_37 1 known silent c.2340 p.H780 0.999 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS 0 no_errors 0 0 0 73 0 0 34 5 12.82 211 0 0.00 126 16 11.27 ADAMTS9 0 genome.wustl.edu 37 3 64592729 64592729 + Nonsense_Mutation SNP G G T TCGA-ZB-A96Q-01A-11D-A428-09 TCGA-ZB-A96Q-10A-01D-A42B-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db163fe-386d-4492-a269-6288aa6cba9f 4d446598-e198-464c-b665-589a2857cedf 3 64592729 64592729 G T SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known nonsense c.3381 p.Y1127* 1 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS 0 no_errors 0 0 0 59 0 0 43 11 20.37 150 0 0.00 133 19 12.34 FGA 0 genome.wustl.edu 37 4 155506807 155506807 + Missense_Mutation SNP C C T TCGA-ZB-A96Q-01A-11D-A428-09 TCGA-ZB-A96Q-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db163fe-386d-4492-a269-6288aa6cba9f 4d446598-e198-464c-b665-589a2857cedf 4 155506807 155506807 C T SNP FGA ENST00000302053 human ensembl 74_37 -1 known missense c.1774 p.G592R 0.59 NULL pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom 0 no_errors 0 0 0 53 0 0 34 8 19.05 218 0 0.00 142 26 15.38 NIPBL 0 genome.wustl.edu 37 5 37059083 37059083 + Missense_Mutation SNP C C T TCGA-ZB-A96Q-01A-11D-A428-09 TCGA-ZB-A96Q-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db163fe-386d-4492-a269-6288aa6cba9f 4d446598-e198-464c-b665-589a2857cedf 5 37059083 37059083 C T SNP NIPBL ENST00000282516 human ensembl 74_37 1 known missense c.7501 p.R2501W 1 NULL superfamily_ARM-type_fold 0 no_errors 0 0 0 82 0 0 89 16 15.24 200 0 0.00 186 28 13.08 OFCC1 0 genome.wustl.edu 37 6 9977791 9977791 + Missense_Mutation SNP G G A TCGA-ZB-A96Q-01A-11D-A428-09 TCGA-ZB-A96Q-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db163fe-386d-4492-a269-6288aa6cba9f 4d446598-e198-464c-b665-589a2857cedf 6 9977791 9977791 G A SNP OFCC1 ENST00000316020 human ensembl 74_37 -1 known missense c.11 p.T4I 0.385 NULL NULL 0 no_errors 0 0 0 33 0 0 37 8 17.78 176 0 0.00 143 22 13.33 MDN1 0 genome.wustl.edu 37 6 90405582 90405582 + Silent SNP C C T TCGA-ZB-A96Q-01A-11D-A428-09 TCGA-ZB-A96Q-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db163fe-386d-4492-a269-6288aa6cba9f 4d446598-e198-464c-b665-589a2857cedf 6 90405582 90405582 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.9513 p.Q3171 0.72 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A 0 no_errors 0 0 0 25 0 0 22 4 15.38 34 0 0.00 40 3 6.98 GTF2I 0 genome.wustl.edu 37 7 74146970 74146970 + Missense_Mutation SNP T T A TCGA-ZB-A96Q-01A-11D-A428-09 TCGA-ZB-A96Q-10A-01D-A42B-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db163fe-386d-4492-a269-6288aa6cba9f 4d446598-e198-464c-b665-589a2857cedf 7 74146970 74146970 T A SNP GTF2I ENST00000324896 human ensembl 74_37 1 known missense c.1271 p.L424H 1 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I 0 no_errors 0 0 0 380 0 0 270 53 16.41 104 0 0.00 85 17 16.67 ESCO2 0 genome.wustl.edu 37 8 27634549 27634549 + Missense_Mutation SNP G G A TCGA-ZB-A96Q-01A-11D-A428-09 TCGA-ZB-A96Q-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db163fe-386d-4492-a269-6288aa6cba9f 4d446598-e198-464c-b665-589a2857cedf 8 27634549 27634549 G A SNP ESCO2 ENST00000305188 human ensembl 74_37 1 known missense c.724 p.E242K 0.008 NULL NULL 0 no_errors 0 0 0 74 0 0 59 17 22.37 156 0 0.00 127 28 17.95 ADHFE1 0 genome.wustl.edu 37 8 67357602 67357602 + Missense_Mutation SNP T T C TCGA-ZB-A96Q-01A-11D-A428-09 TCGA-ZB-A96Q-10A-01D-A42B-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db163fe-386d-4492-a269-6288aa6cba9f 4d446598-e198-464c-b665-589a2857cedf 8 67357602 67357602 T C SNP ADHFE1 ENST00000396623 human ensembl 74_37 1 known missense c.503 p.I168T 1 pfam_ADH_Fe pfam_ADH_Fe 0 no_errors 0 0 0 41 0 0 43 6 12.24 172 0 0.00 147 28 16.00 PRICKLE1 0 genome.wustl.edu 37 12 42864131 42864131 + Missense_Mutation SNP C C T TCGA-ZB-A96Q-01A-11D-A428-09 TCGA-ZB-A96Q-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db163fe-386d-4492-a269-6288aa6cba9f 4d446598-e198-464c-b665-589a2857cedf 12 42864131 42864131 C T SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.163 p.E55K 1 pfam_PET_domain pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM 0 no_errors 0 0 0 33 0 0 34 3 8.11 226 0 0.00 208 39 15.79 ATP2C2 0 genome.wustl.edu 37 16 84456271 84456271 + Missense_Mutation SNP G G A TCGA-ZB-A96Q-01A-11D-A428-09 TCGA-ZB-A96Q-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db163fe-386d-4492-a269-6288aa6cba9f 4d446598-e198-464c-b665-589a2857cedf 16 84456271 84456271 G A SNP ATP2C2 ENST00000262429 human ensembl 74_37 1 known missense c.811 p.G271R 1 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_PMR1 pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase 0 no_errors rs201615601 G->A 0 33 0 0 22 5 18.52 153 0 0.00 141 15 9.62 CACTIN 0 genome.wustl.edu 37 19 3620801 3620801 + Splice_Site SNP C C G TCGA-ZB-A96Q-01A-11D-A428-09 TCGA-ZB-A96Q-10A-01D-A42B-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db163fe-386d-4492-a269-6288aa6cba9f 4d446598-e198-464c-b665-589a2857cedf 19 3620801 3620801 C G SNP CACTIN ENST00000221899 human ensembl 74_37 -1 known splice_site c.439-1 e2-1 1 0 0 0 no_errors 0 0 0 10 0 0 19 2 9.52 139 0 0.00 81 8 8.99 ARHGAP21 0 genome.wustl.edu 37 10 24883930 24883931 + Frame_Shift_Ins INS - - A TCGA-ZB-A96Q-01A-11D-A428-09 TCGA-ZB-A96Q-10A-01D-A42B-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db163fe-386d-4492-a269-6288aa6cba9f 4d446598-e198-464c-b665-589a2857cedf 10 24883930 24883931 0 A INS ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known frame_shift_ins c.3825_3824 p.K1275fs 1.000:1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom 0 no_errors 0 0 0 120 0 0 76 19 20 82 0 0.00 96 7 6.80 ARHGAP21 0 genome.wustl.edu 37 10 24883931 24883932 + Frame_Shift_Ins INS - - C TCGA-ZB-A96Q-01A-11D-A428-09 TCGA-ZB-A96Q-10A-01D-A42B-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3db163fe-386d-4492-a269-6288aa6cba9f 4d446598-e198-464c-b665-589a2857cedf 10 24883931 24883932 0 C INS ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known frame_shift_ins c.3824_3823 p.K1275fs 1.000:1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom 0 no_errors 0 0 0 121 0 0 75 19 20.21 84 0 0.00 98 7 6.67 MT-ND6 0 genome.wustl.edu 37 MT 14339 14339 + Missense_Mutation SNP A A G TCGA-ZB-A96Q-01A-11D-A428-09 TCGA-ZB-A96Q-10A-01D-A42B-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db163fe-386d-4492-a269-6288aa6cba9f 4d446598-e198-464c-b665-589a2857cedf MT 14339 14339 A G SNP MT-ND6 ENST00000361681 human ensembl 74_37 -1 known missense c.335 p.V112A NULL pfam_NADH_UbQ/plastoQ_OxRdtase_su6 pfam_NADH_UbQ/plastoQ_OxRdtase_su6 0 no_errors 0 0 0 53 0 0 48 19 28.36 5 0 0.00 2 0 0.00 RIC3 0 genome.wustl.edu 37 11 8190532 8190532 + Missense_Mutation SNP G G A TCGA-ZB-A96Q-01A-11D-A428-09 TCGA-ZB-A96Q-10A-01D-A42B-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db163fe-386d-4492-a269-6288aa6cba9f 4d446598-e198-464c-b665-589a2857cedf 11 8190532 8190532 G A SNP RIC3 ENST00000309737 human ensembl 74_37 -1 known missense c.5 p.A2V 1 NULL NULL 0 no_errors 0 0 0 22 0 0 27 4 12.9 18 0 0.00 8 0 0.00 EVI5L 0 genome.wustl.edu 37 19 7927379 7927379 + Missense_Mutation SNP C C T TCGA-ZB-A96Q-01A-11D-A428-09 TCGA-ZB-A96Q-10A-01D-A42B-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db163fe-386d-4492-a269-6288aa6cba9f 4d446598-e198-464c-b665-589a2857cedf 19 7927379 7927379 C T SNP EVI5L ENST00000538904 human ensembl 74_37 1 known missense c.1906 p.L636F 1 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom 0 no_errors 0 0 0 19 0 0 15 4 21.05 19 0 0.00 10 0 0.00 LOC100996415 0 genome.wustl.edu 37 22 20343332 20343332 + RNA SNP A A G TCGA-ZB-A96Q-01A-11D-A428-09 TCGA-ZB-A96Q-10A-01D-A42B-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db163fe-386d-4492-a269-6288aa6cba9f 4d446598-e198-464c-b665-589a2857cedf 22 20343332 20343332 A G SNP LOC100996415 ENST00000454636 human ensembl 74_37 1 known rna NULL NULL 0.12 0 0 0 no_errors 0 0 0 25 0 0 32 3 8.57 6 0 0.00 10 0 0.00 SAP30L 0 genome.wustl.edu 37 5 153826204 153826204 + Frame_Shift_Del DEL C C - TCGA-ZB-A96Q-01A-11D-A428-09 TCGA-ZB-A96Q-10A-01D-A42B-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db163fe-386d-4492-a269-6288aa6cba9f 4d446598-e198-464c-b665-589a2857cedf 5 153826204 153826204 C 0 DEL SAP30L ENST00000297109 human ensembl 74_37 1 known frame_shift_del c.40 p.A16fs 1 NULL NULL 0 no_errors 0 0 0 9 0 0 5 2 28.57 16 0 0.00 9 0 0.00