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 ACOT11 0 genome.wustl.edu 37 1 55059698 55059698 + Missense_Mutation SNP C C G TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 1 55059698 55059698 C G SNP ACOT11 ENST00000371316 human ensembl 69_37n +1 known missense c.457 p.R153G 1.000 NULL pfam_START_lipid-bd,pfam_Thioestr_supf,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors ACOT11 HGNC ENSG00000162390 90 0 0.00 75 12 13.79 - - - ACVR1C 0 genome.wustl.edu 37 2 158406760 158406760 + Missense_Mutation SNP C C A TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 2 158406760 158406760 C A SNP ACVR1C ENST00000243349 human ensembl 69_37n -1 known missense c.689 p.R230I 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,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1C HGNC ENSG00000123612 518 1 0.19 245 67 21.47 - - - AHCTF1 0 genome.wustl.edu 37 1 247014111 247014111 + Missense_Mutation SNP C C A TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 1 247014111 247014111 C A SNP AHCTF1 ENST00000326225 human ensembl 69_37n -1 known missense c.5224 p.D1742Y 0.030 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 241 0 0.00 212 33 13.47 - - - AKR1CL1 0 genome.wustl.edu 37 10 5200861 5200861 + Missense_Mutation SNP C C A TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 10 5200861 5200861 C A SNP AKR1CL1 ENST00000473890 human ensembl 69_37n -1 novel missense c.101 p.C34F 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1CL1 HGNC ENSG00000196326 11 0 0.00 10 4 28.57 - - - BCAS1 0 genome.wustl.edu 37 20 52570137 52570137 + Nonsense_Mutation SNP G G T TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 20 52570137 52570137 G T SNP BCAS1 ENST00000371440 human ensembl 69_37n -1 known nonsense c.1541 p.S514* 0.006 NULL NULL - no_errors BCAS1 HGNC ENSG00000064787 704 1 0.14 446 219 32.93 - - - BCAT1 0 genome.wustl.edu 37 12 24970952 24970952 + Missense_Mutation SNP A A G TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 12 24970952 24970952 A G SNP BCAT1 ENST00000261192 human ensembl 69_37n -1 known missense c.1151 p.V384A 0.000 superfamily_Aminotrans_IV,pirsf_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT1 HGNC ENSG00000060982 418 0 0.00 407 51 11.11 - - - BRAF 0 genome.wustl.edu 37 7 140476796 140476796 + Missense_Mutation SNP A A G TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 7 140476796 140476796 A G SNP BRAF ENST00000288602 human ensembl 69_37n -1 known missense c.1610 p.L537S 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 167 0 0.00 112 29 20.42 - - - C4orf21 0 genome.wustl.edu 37 4 113484412 113484412 + Frame_Shift_Del DEL G G - TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 4 113484412 113484412 G - DEL C4orf21 ENST00000505019 human ensembl 69_37n -1 known frame_shift_del c.4457 p.S1486fs 1.000 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC ENSG00000138658 172 0 0.00 87 16 15.24 - - - CACNA1B 0 genome.wustl.edu 37 9 140938304 140938304 + Missense_Mutation SNP G G A TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 9 140938304 140938304 G A SNP CACNA1B ENST00000371355 human ensembl 69_37n +1 known missense c.3368 p.R1123Q 0.998 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 363 0 0.00 117 122 50.83 - - - CACNA1F 0 genome.wustl.edu 37 X 49065116 49065116 + Missense_Mutation SNP C C T TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e X 49065116 49065116 C T SNP CACNA1F ENST00000376265 human ensembl 69_37n -1 known missense c.5015 p.R1672H 0.416 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 128 0 0.00 67 25 26.88 - - - CHRNB2 0 genome.wustl.edu 37 1 154543672 154543672 + Missense_Mutation SNP G G A TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 1 154543672 154543672 G A SNP CHRNB2 ENST00000368476 human ensembl 69_37n +1 known missense c.373 p.G125S 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC ENSG00000160716 74 0 0.00 57 43 43.00 - - - CLUL1 0 genome.wustl.edu 37 18 618062 618062 + Missense_Mutation SNP C C T TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 18 618062 618062 C T SNP CLUL1 ENST00000338387 human ensembl 69_37n +1 known missense c.62 p.A21V 0.996 pfam_Clusterin-like pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLUL1 HGNC ENSG00000079101 306 0 0.00 212 44 17.19 - - - COPG1 0 genome.wustl.edu 37 3 128996136 128996136 + Splice_Site SNP G G C TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 3 128996136 128996136 G C SNP COPG1 ENST00000314797 human ensembl 69_37n +1 known splice_site c.2495-1 e24-1 1.000 - - - no_errors COPG1 HGNC ENSG00000181789 544 0 0.00 250 80 24.24 - - - CPS1 0 genome.wustl.edu 37 2 211471611 211471611 + Missense_Mutation SNP T T G TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 2 211471611 211471611 T G SNP CPS1 ENST00000430249 human ensembl 69_37n +1 known missense c.2156 p.I719S 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,prints_CbamoylP_synth_lsu_CPSase_dom,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,prints_CbamoylP_synth_lsu_CPSase_dom,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 185 0 0.00 110 33 23.08 - - - DNAH3 0 genome.wustl.edu 37 16 20955961 20955961 + Missense_Mutation SNP G G T TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 16 20955961 20955961 G T SNP DNAH3 ENST00000261383 human ensembl 69_37n -1 known missense c.11368 p.L3790I 0.648 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 306 0 0.00 181 59 24.58 - - - DNAH9 0 genome.wustl.edu 37 17 11522985 11522985 + Nonsense_Mutation SNP G G T TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 17 11522985 11522985 G T SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known nonsense c.1237 p.E413* 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 145 0 0.00 89 23 20.54 - - - ERBB4 0 genome.wustl.edu 37 2 212543900 212543900 + Missense_Mutation SNP C C T TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 2 212543900 212543900 C T SNP ERBB4 ENST00000342788 human ensembl 69_37n -1 known missense c.1499 p.G500E 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB4 HGNC ENSG00000178568 181 0 0.00 100 23 18.70 - - - EYS 0 genome.wustl.edu 37 6 65301142 65301142 + Missense_Mutation SNP T T G TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 6 65301142 65301142 T G SNP EYS ENST00000370616 human ensembl 69_37n -1 known missense c.4618 p.N1540H 1.000 NULL pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 123 0 0.00 78 45 36.29 - - - GRID2 0 genome.wustl.edu 37 4 94547528 94547528 + Missense_Mutation SNP C C G TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 4 94547528 94547528 C G SNP GRID2 ENST00000282020 human ensembl 69_37n +1 known missense c.2302 p.R768G 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 486 0 0.00 293 68 18.78 - - - GRID2 0 genome.wustl.edu 37 4 94547529 94547529 + Missense_Mutation SNP G G A TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 4 94547529 94547529 G A SNP GRID2 ENST00000282020 human ensembl 69_37n +1 known missense c.2303 p.R768Q 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 486 0 0.00 290 68 18.99 - - - HAVCR1 0 genome.wustl.edu 37 5 156464344 156464344 + Missense_Mutation SNP G G A TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 5 156464344 156464344 G A SNP HAVCR1 ENST00000425854 human ensembl 69_37n -1 known missense c.866 p.T289M 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors HAVCR1 HGNC ENSG00000113249 274 0 0.00 120 16 11.76 - - - ITGA1 0 genome.wustl.edu 37 5 52216261 52216261 + Missense_Mutation SNP G G A TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 5 52216261 52216261 G A SNP ITGA1 ENST00000282588 human ensembl 69_37n +1 known missense c.2255 p.R752Q 0.265 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 320 0 0.00 146 84 36.52 - - - KDM3A 0 genome.wustl.edu 37 2 86705821 86705821 + Missense_Mutation SNP T T G TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 2 86705821 86705821 T G SNP KDM3A ENST00000312912 human ensembl 69_37n +1 known missense c.2279 p.L760R 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 231 0 0.00 178 31 14.76 - - - LCE6A 0 genome.wustl.edu 37 1 152816068 152816068 + Silent SNP C C T TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 1 152816068 152816068 C T SNP LCE6A ENST00000431011 human ensembl 69_37n +1 known silent c.72 p.N24 0.000 NULL NULL - no_errors LCE6A HGNC ENSG00000235942 533 0 0.00 433 88 16.86 - - - LIG1 0 genome.wustl.edu 37 19 48620916 48620916 + Missense_Mutation SNP G G C TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 19 48620916 48620916 G C SNP LIG1 ENST00000263274 human ensembl 69_37n -1 known missense c.2562 p.I854M 1.000 pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold-like,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 34 0 0.00 22 8 26.67 - - - MIR154 0 genome.wustl.edu 37 14 101526096 101526096 + RNA SNP T T C TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 14 101526096 101526096 T C SNP MIR154 ENST00000385243 human ensembl 69_37n +1 known rna NULL NULL 0.053 - - - no_errors MIR154 HGNC ENSG00000207978 629 1 0.16 225 333 59.68 - - - MORF4L2 0 genome.wustl.edu 37 X 102931122 102931122 + Silent SNP C C A TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e X 102931122 102931122 C A SNP MORF4L2 ENST00000360458 human ensembl 69_37n -1 known silent c.834 p.V278 1.000 NULL pfam_MRG,superfamily_Chromodomain-like - no_errors MORF4L2 HGNC ENSG00000123562 203 0 0.00 77 18 18.95 - - - NCCRP1 0 genome.wustl.edu 37 19 39690990 39690990 + Nonsense_Mutation SNP G G T TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 19 39690990 39690990 G T SNP NCCRP1 ENST00000339852 human ensembl 69_37n +1 known nonsense c.553 p.E185* 0.988 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom - no_errors NCCRP1 HGNC ENSG00000188505 35 0 0.00 21 5 19.23 - - - NUPL2 0 genome.wustl.edu 37 7 23224772 23224773 + Frame_Shift_Ins INS - - G TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 7 23224772 23224773 - G INS NUPL2 ENST00000258742 human ensembl 69_37n +1 known frame_shift_ins c.205_206 p.S72fs 0.997:1.000 NULL smart_Znf_CCCH - no_errors NUPL2 HGNC ENSG00000136243 183 0 0.00 135 15 10.00 - - - OR6Y1 0 genome.wustl.edu 37 1 158517488 158517488 + Silent SNP G G C TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 1 158517488 158517488 G C SNP OR6Y1 ENST00000302617 human ensembl 69_37n -1 known silent c.408 p.R136 0.379 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6Y1 HGNC ENSG00000197532 104 0 0.00 84 20 19.23 - - - PCDH15 0 genome.wustl.edu 37 10 55944938 55944938 + Missense_Mutation SNP G G A TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 10 55944938 55944938 G A SNP PCDH15 ENST00000320301 human ensembl 69_37n -1 known missense c.1396 p.L466F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 374 0 0.00 249 53 17.55 - - - PPP1R10 0 genome.wustl.edu 37 6 30571347 30571347 + Missense_Mutation SNP C C T TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 6 30571347 30571347 C T SNP PPP1R10 ENST00000376511 human ensembl 69_37n -1 known missense c.1669 p.V557I 0.999 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 36 0 0.00 36 8 18.18 - - - PSMC4 0 genome.wustl.edu 37 19 40480708 40480708 + Missense_Mutation SNP G G A TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 19 40480708 40480708 G A SNP PSMC4 ENST00000157812 human ensembl 69_37n +1 known missense c.646 p.A216T 1.000 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC4 HGNC ENSG00000013275 131 0 0.00 84 24 22.22 - - - RB1CC1 0 genome.wustl.edu 37 8 53569190 53569190 + Nonsense_Mutation SNP T T A TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 8 53569190 53569190 T A SNP RB1CC1 ENST00000025008 human ensembl 69_37n -1 known nonsense c.3199 p.K1067* 1.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 267 0 0.00 206 87 29.59 - - - RWDD2A 0 genome.wustl.edu 37 6 83905471 83905471 + Missense_Mutation SNP T T A TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 6 83905471 83905471 T A SNP RWDD2A ENST00000369724 human ensembl 69_37n +1 known missense c.359 p.V120E 0.812 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain - no_errors RWDD2A HGNC ENSG00000013392 235 0 0.00 153 83 35.17 - - - SCPEP1 0 genome.wustl.edu 37 17 55058560 55058560 + Missense_Mutation SNP T T A TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 17 55058560 55058560 T A SNP SCPEP1 ENST00000262288 human ensembl 69_37n +1 known missense c.194 p.F65Y 1.000 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors SCPEP1 HGNC ENSG00000121064 203 0 0.00 45 70 60.87 - - - SETBP1 0 genome.wustl.edu 37 18 42643576 42643576 + Silent SNP C C G TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 18 42643576 42643576 C G SNP SETBP1 ENST00000282030 human ensembl 69_37n +1 known silent c.4704 p.P1568 0.950 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 20 0 0.00 6 6 50.00 - - - SFMBT2 0 genome.wustl.edu 37 10 7244480 7244480 + Missense_Mutation SNP T T G TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 10 7244480 7244480 T G SNP SFMBT2 ENST00000361972 human ensembl 69_37n -1 known missense c.1449 p.Q483H 1.000 pfam_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 333 2 0.60 327 87 21.01 - - - SLC35D1 0 genome.wustl.edu 37 1 67507959 67507959 + Missense_Mutation SNP G G C TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 1 67507959 67507959 G C SNP SLC35D1 ENST00000235345 human ensembl 69_37n -1 known missense c.689 p.P230R 1.000 pfam_DUF250 pfam_DUF250 - no_errors SLC35D1 HGNC ENSG00000116704 478 1 0.21 283 129 31.23 - - - SPEG 0 genome.wustl.edu 37 2 220354392 220354392 + Silent SNP A A C TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 2 220354392 220354392 A C SNP SPEG ENST00000312358 human ensembl 69_37n +1 novel silent c.8652 p.P2884 0.971 NULL pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors SPEG HGNC ENSG00000072195 79 0 0.00 51 12 19.05 - - - SULT1E1 0 genome.wustl.edu 37 4 70715248 70715248 + Missense_Mutation SNP C C T TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 4 70715248 70715248 C T SNP SULT1E1 ENST00000226444 human ensembl 69_37n -1 known missense c.403 p.A135T 0.994 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1E1 HGNC ENSG00000109193 133 0 0.00 73 21 22.34 - - - TMCO4 0 genome.wustl.edu 37 1 20009551 20009551 + Silent SNP G G A TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 1 20009551 20009551 G A SNP TMCO4 ENST00000294543 human ensembl 69_37n -1 known silent c.1887 p.P629 0.912 NULL pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC ENSG00000162542 43 0 0.00 44 9 16.98 - - - TP53 0 genome.wustl.edu 37 17 7578402 7578402 + Nonsense_Mutation SNP G G T TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 17 7578402 7578402 G T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.528 p.C176* 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 104 0 0.00 41 43 51.19 - - - USH2A 0 genome.wustl.edu 37 1 215953312 215953312 + Silent SNP C C T TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 1 215953312 215953312 C T SNP USH2A ENST00000366943 human ensembl 69_37n -1 known silent c.10812 p.V3604 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 307 0 0.00 208 117 36.00 - - - USP33 0 genome.wustl.edu 37 1 78194177 78194177 + Missense_Mutation SNP T T A TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 1 78194177 78194177 T A SNP USP33 ENST00000357428 human ensembl 69_37n -1 known missense c.1031 p.N344I 0.999 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP33 HGNC ENSG00000077254 317 0 0.00 272 50 15.53 - - - ZEB1 0 genome.wustl.edu 37 10 31810768 31810768 + Silent SNP G G A TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 10 31810768 31810768 G A SNP ZEB1 ENST00000361642 human ensembl 69_37n +1 known silent c.2508 p.T836 0.878 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 158 0 0.00 165 24 12.70 - - - ZNF217 0 genome.wustl.edu 37 20 52192498 52192498 + Silent SNP A A G TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 20 52192498 52192498 A G SNP ZNF217 ENST00000302342 human ensembl 69_37n -1 known silent c.2805 p.N935 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 119 0 0.00 105 15 12.50 - - - ZNF365 0 genome.wustl.edu 37 10 64425930 64425930 + Missense_Mutation SNP T T C TCGA-E2-A150-01A-11D-A12B-09 TCGA-E2-A150-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 446064de-ff64-4113-9080-360e5bf6d5e4 17e424ec-2364-4fa2-ae06-9fa4a409fe3e 10 64425930 64425930 T C SNP ZNF365 ENST00000410046 human ensembl 69_37n +1 known missense c.1262 p.L421P 0.000 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 263 0 0.00 227 35 13.36 - - -