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 AHNAK 0 genome.wustl.edu 37 11 62284554 62284554 + Missense_Mutation SNP G G A TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 11 62284554 62284554 G A SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.17335 p.R5779C 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 171 0 0.00 111 47 29.75 - - - ASCL3 0 genome.wustl.edu 37 11 8959451 8959451 + Silent SNP G G A TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 11 8959451 8959451 G A SNP ASCL3 ENST00000325884 human ensembl 69_37n -1 known silent c.258 p.C86 0.917 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors ASCL3 HGNC ENSG00000176009 144 0 0.00 88 53 37.59 - - - BTD 0 genome.wustl.edu 37 3 15643051 15643051 + Missense_Mutation SNP C C A TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 3 15643051 15643051 C A SNP BTD ENST00000417015 human ensembl 69_37n +1 known missense c.140 p.A47E 0.000 NULL NULL - no_errors BTD HGNC ENSG00000169814 56 0 0.00 36 11 23.40 - - - CACNA1A 0 genome.wustl.edu 37 19 13356070 13356070 + Missense_Mutation SNP G G A TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 19 13356070 13356070 G A SNP CACNA1A ENST00000360228 human ensembl 69_37n -1 known missense c.4876 p.R1626C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 108 0 0.00 77 37 32.46 - - - CCP110 0 genome.wustl.edu 37 16 19548275 19548275 + Silent SNP A A G TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 16 19548275 19548275 A G SNP CCP110 ENST00000381396 human ensembl 69_37n +1 known silent c.1284 p.L428 0.023 NULL NULL - no_errors CCP110 HGNC ENSG00000103540 230 0 0.00 148 77 34.22 - - - CLEC18A 0 genome.wustl.edu 37 16 69985383 69985383 + Silent SNP G G A TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 16 69985383 69985383 G A SNP CLEC18A ENST00000449317 human ensembl 69_37n +1 known silent c.114 p.P38 0.000 superfamily_CAP_domain pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EGF-like,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1 - no_errors CLEC18A HGNC ENSG00000157322 62 0 0.00 29 4 12.12 - - - CPT1B 0 genome.wustl.edu 37 22 51009679 51009679 + Missense_Mutation SNP T T C TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 22 51009679 51009679 T C SNP CPT1B ENST00000312108 human ensembl 69_37n -1 known missense c.1783 p.R595G 0.984 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 131 0 0.00 67 54 44.63 - - - HLA-J 0 genome.wustl.edu 37 6 29976024 29976024 + RNA SNP C C G TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 6 29976024 29976024 C G SNP HLA-J ENST00000462773 human ensembl 69_37n +1 known rna NULL NULL 0.997 - - - no_errors HLA-J HGNC ENSG00000204622 20 0 0.00 24 5 17.24 - - - KIAA0240 0 genome.wustl.edu 37 6 42832565 42832565 + Missense_Mutation SNP A A C TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 6 42832565 42832565 A C SNP KIAA0240 ENST00000314073 human ensembl 69_37n +1 known missense c.2621 p.N874T 0.975 NULL NULL - no_errors KIAA0240 HGNC ENSG00000112624 147 0 0.00 116 53 31.36 - - - LPHN2 0 genome.wustl.edu 37 1 82409015 82409015 + Missense_Mutation SNP T T C TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 1 82409015 82409015 T C SNP LPHN2 ENST00000370717 human ensembl 69_37n +1 known missense c.760 p.S254P 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 210 0 0.00 122 63 34.05 - - - LRRC15 0 genome.wustl.edu 37 3 194080956 194080956 + Missense_Mutation SNP G G A TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 3 194080956 194080956 G A SNP LRRC15 ENST00000439944 human ensembl 69_37n -1 known missense c.835 p.R279C 0.955 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 524 0 0.00 357 219 37.95 - - - MAGEA3 0 genome.wustl.edu 37 X 151936112 151936112 + Nonsense_Mutation SNP G G A TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f X 151936112 151936112 G A SNP MAGEA3 ENST00000370278 human ensembl 69_37n -1 known nonsense c.55 p.R19* 0.001 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA3 HGNC ENSG00000221867 19 0 0.00 10 4 28.57 - - - MTRF1L 0 genome.wustl.edu 37 6 153315705 153315705 + Missense_Mutation SNP C C G TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 6 153315705 153315705 C G SNP MTRF1L ENST00000367233 human ensembl 69_37n -1 known missense c.630 p.K210N 1.000 NULL pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1L HGNC ENSG00000112031 393 2 0.50 278 131 32.03 - - - MUC16 0 genome.wustl.edu 37 19 9069332 9069332 + Silent SNP G G A TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 19 9069332 9069332 G A SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.18114 p.H6038 0.003 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 324 1 0.31 203 85 29.41 - - - MYO7A 0 genome.wustl.edu 37 11 76893500 76893500 + Missense_Mutation SNP G G A TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 11 76893500 76893500 G A SNP MYO7A ENST00000409709 human ensembl 69_37n +1 known missense c.3140 p.R1047H 0.976 smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 59 0 0.00 105 21 16.54 - - - NAALADL2 0 genome.wustl.edu 37 3 174974237 174974237 + Missense_Mutation SNP A A T TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 3 174974237 174974237 A T SNP NAALADL2 ENST00000454872 human ensembl 69_37n +1 known missense c.857 p.D286V 0.997 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 175 0 0.00 134 38 21.97 - - - NMRK2 0 genome.wustl.edu 37 19 3942216 3942216 + Missense_Mutation SNP G G A TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 19 3942216 3942216 G A SNP NMRK2 ENST00000168977 human ensembl 69_37n +1 known missense c.638 p.R213H 0.000 NULL NULL - no_errors NMRK2 HGNC ENSG00000077009 14 0 0.00 9 7 43.75 - - - NPAS4 0 genome.wustl.edu 37 11 66188712 66188712 + Missense_Mutation SNP G G A TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 11 66188712 66188712 G A SNP NPAS4 ENST00000311034 human ensembl 69_37n +1 known missense c.62 p.R21Q 1.000 NULL pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 27 0 0.00 18 5 21.74 - - - NPSR1-AS1 0 genome.wustl.edu 37 7 34873776 34873776 + RNA SNP G G A TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 7 34873776 34873776 G A SNP NPSR1-AS1 ENST00000436945 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors NPSR1-AS1 HGNC ENSG00000197085 14 0 0.00 3 4 57.14 - - - OR11H1 0 genome.wustl.edu 37 22 16449768 16449769 + Frame_Shift_Ins INS - - A TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 22 16449768 16449769 - A INS OR11H1 ENST00000252835 human ensembl 69_37n -1 known frame_shift_ins c.37_36 p.N12fs 0.999:1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR11H1 HGNC ENSG00000130538 107 0 0.00 112 26 18.84 - - - PCDH11X 0 genome.wustl.edu 37 X 91133194 91133194 + Nonsense_Mutation SNP C C A TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f X 91133194 91133194 C A SNP PCDH11X ENST00000373094 human ensembl 69_37n +1 known nonsense c.1955 p.S652* 0.951 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 117 0 0.00 71 46 39.32 - - - PDE3A 0 genome.wustl.edu 37 12 20522503 20522503 + Silent SNP G G A TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 12 20522503 20522503 G A SNP PDE3A ENST00000359062 human ensembl 69_37n +1 known silent c.285 p.A95 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 12 0 0.00 9 4 30.77 - - - PIK3R1 0 genome.wustl.edu 37 5 67589601 67589602 + In_Frame_Ins INS - - GTT TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 5 67589601 67589602 - GTT INS PIK3R1 ENST00000396611 human ensembl 69_37n +1 known in_frame_ins c.1364_1365 p.456in_frame_insL 1.000:1.000 superfamily_Guanylate-bd_C pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 136 0 0.00 107 67 38.51 - - - PLEKHA1 0 genome.wustl.edu 37 10 124177438 124177438 + Missense_Mutation SNP A A G TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 10 124177438 124177438 A G SNP PLEKHA1 ENST00000368990 human ensembl 69_37n +1 known missense c.635 p.Y212C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA1 HGNC ENSG00000107679 166 0 0.00 44 40 47.62 - - - PLOD3 0 genome.wustl.edu 37 7 100854922 100854922 + Missense_Mutation SNP C C T TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 7 100854922 100854922 C T SNP PLOD3 ENST00000440925 human ensembl 69_37n -1 known missense c.146 p.S49N 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PLOD3 HGNC ENSG00000106397 19 0 0.00 15 9 37.50 - - - RAD18 0 genome.wustl.edu 37 3 8983486 8983486 + Missense_Mutation SNP T T A TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 3 8983486 8983486 T A SNP RAD18 ENST00000264926 human ensembl 69_37n -1 known missense c.269 p.N90I 1.000 NULL pfam_SAP_DNA-bd,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_DNA-bd,pfscan_Znf_RING,pfscan_SAP_DNA-bd - no_errors RAD18 HGNC ENSG00000070950 199 0 0.00 140 78 35.78 - - - RASSF2 0 genome.wustl.edu 37 20 4771137 4771137 + Missense_Mutation SNP C C T TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 20 4771137 4771137 C T SNP RASSF2 ENST00000379376 human ensembl 69_37n -1 known missense c.497 p.R166H 1.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF2 HGNC ENSG00000101265 115 0 0.00 74 45 37.50 - - - SLC9A7P1 0 genome.wustl.edu 37 12 98850195 98850195 + RNA SNP C C T TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 12 98850195 98850195 C T SNP SLC9A7P1 ENST00000554295 human ensembl 69_37n -1 putative rna NULL NULL 0.998 - - - no_errors SLC9A7P1 HGNC ENSG00000227825 177 0 0.00 205 25 10.87 - - - SNRK 0 genome.wustl.edu 37 3 43389153 43389153 + Missense_Mutation SNP C C T TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 3 43389153 43389153 C T SNP SNRK ENST00000296088 human ensembl 69_37n +1 known missense c.1402 p.R468C 1.000 NULL 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors SNRK HGNC ENSG00000163788 248 0 0.00 168 99 37.08 - - - ST3GAL5 0 genome.wustl.edu 37 2 86073664 86073664 + Missense_Mutation SNP C C T TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 2 86073664 86073664 C T SNP ST3GAL5 ENST00000377332 human ensembl 69_37n -1 known missense c.685 p.G229R 0.998 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL5 HGNC ENSG00000115525 227 0 0.00 166 58 25.89 - - - TAS2R43 0 genome.wustl.edu 37 12 11244166 11244166 + Silent SNP G G C TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 12 11244166 11244166 G C SNP TAS2R43 ENST00000531678 human ensembl 69_37n -1 known silent c.663 p.T221 0.185 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 55 0 0.00 63 28 30.77 - - - TAS2R43 0 genome.wustl.edu 37 12 11244194 11244194 + Missense_Mutation SNP T T C TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 12 11244194 11244194 T C SNP TAS2R43 ENST00000531678 human ensembl 69_37n -1 known missense c.635 p.H212R 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 56 0 0.00 61 31 33.70 - - - U2AF1L4 0 genome.wustl.edu 37 19 36235431 36235431 + Silent SNP A A G TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 19 36235431 36235431 A G SNP U2AF1L4 ENST00000412391 human ensembl 69_37n -1 known silent c.210 p.S70 0.999 smart_RRM_dom_euk,pfscan_RRM_dom pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors U2AF1L4 HGNC ENSG00000161265 28 0 0.00 17 4 19.05 - - - USP29 0 genome.wustl.edu 37 19 57640371 57640371 + Missense_Mutation SNP C C T TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 19 57640371 57640371 C T SNP USP29 ENST00000254181 human ensembl 69_37n +1 known missense c.328 p.P110S 0.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP29 HGNC ENSG00000131864 69 0 0.00 41 22 34.92 - - - VPS18 0 genome.wustl.edu 37 15 41194898 41194898 + Missense_Mutation SNP C C G TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 15 41194898 41194898 C G SNP VPS18 ENST00000220509 human ensembl 69_37n +1 known missense c.2281 p.R761G 1.000 pfam_Clathrin_H-chain/VPS_repeat pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 167 0 0.00 109 46 29.49 - - - ZNF333 0 genome.wustl.edu 37 19 14830057 14830057 + Missense_Mutation SNP C C T TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 19 14830057 14830057 C T SNP ZNF333 ENST00000292530 human ensembl 69_37n +1 known missense c.1918 p.H640Y 0.660 pfam_Znf_C2H2,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,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF333 HGNC ENSG00000160961 150 0 0.00 86 51 37.23 - - - ZNF668 0 genome.wustl.edu 37 16 31075619 31075619 + Silent SNP G G A TCGA-E2-A14S-01A-11D-A12B-09 TCGA-E2-A14S-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 78f39325-e1d0-4181-87f4-cb7f00e886d7 5cfbabf6-5143-4dae-a386-25a208ba147f 16 31075619 31075619 G A SNP ZNF668 ENST00000426488 human ensembl 69_37n -1 known silent c.231 p.A77 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 97 0 0.00 63 25 28.41 - - -