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 PRSS35 0 genome.wustl.edu 37 6 84234189 84234189 + Silent SNP G G A TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 6 84234189 84234189 G A SNP PRSS35 ENST00000369700 human ensembl 74_37 +1 known silent c.1029 p.S343 0.111 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors PRSS35 HGNC ENSG00000146250 tier1 - - 51 0 0.00 13 6 31.58 121 0 0.00 34 29 46.03 HSP90AB1 0 genome.wustl.edu 37 6 44221273 44221273 + Missense_Mutation SNP C C G TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 6 44221273 44221273 C G SNP HSP90AB1 ENST00000353801 human ensembl 74_37 +1 known missense c.2113 p.P705A 1.000 pfam_Hsp90_fam,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors HSP90AB1 HGNC ENSG00000096384 tier1 - - 49 0 0.00 25 5 16.67 45 0 0.00 22 4 15.38 BZRAP1 0 genome.wustl.edu 37 17 56382430 56382430 + Nonsense_Mutation SNP C C A TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 17 56382430 56382430 C A SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known nonsense c.5536 p.E1846* 0.533 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 tier1 - - 60 0 0.00 40 19 32.20 31 0 0.00 17 3 15.00 TENM3 0 genome.wustl.edu 37 4 183522238 183522238 + Missense_Mutation SNP G G A TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 4 183522238 183522238 G A SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.673 p.E225K 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 tier1 - - 88 0 0.00 38 119 75.80 46 0 0.00 14 53 79.10 CCDC13 0 genome.wustl.edu 37 3 42781189 42781189 + Silent SNP C C T TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 3 42781189 42781189 C T SNP CCDC13 ENST00000310232 human ensembl 74_37 -1 known silent c.1101 p.K367 0.944 superfamily_Prefoldin superfamily_Prefoldin - no_errors CCDC13 HGNC ENSG00000244607 tier1 - - 59 0 0.00 11 16 59.26 103 0 0.00 31 48 60.76 COPB2 0 genome.wustl.edu 37 3 139087001 139087001 + Missense_Mutation SNP C C G TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 3 139087001 139087001 C G SNP COPB2 ENST00000333188 human ensembl 74_37 -1 known missense c.1531 p.E511Q 1.000 pirsf_COPB2,pfam_Coatomer_WD-assoc_reg pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 tier1 - - 58 0 0.00 59 16 21.05 131 0 0.00 90 21 18.92 AIM1 0 genome.wustl.edu 37 6 106967940 106967940 + Missense_Mutation SNP G G C TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 6 106967940 106967940 G C SNP AIM1 ENST00000369066 human ensembl 74_37 +1 known missense c.1633 p.V545L 0.994 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 tier1 - - 62 0 0.00 39 9 18.75 118 0 0.00 44 32 42.11 ZNF711 0 genome.wustl.edu 37 X 84520144 84520144 + Missense_Mutation SNP G G A TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f X 84520144 84520144 G A SNP ZNF711 ENST00000395402 human ensembl 74_37 +1 known missense c.733 p.E245K 1.000 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 tier1 - - 147 0 0.00 66 47 41.59 97 0 0.00 38 23 37.70 ACSL6 0 genome.wustl.edu 37 5 131307262 131307262 + Missense_Mutation SNP C C T TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 5 131307262 131307262 C T SNP ACSL6 ENST00000296869 human ensembl 74_37 -1 known missense c.1415 p.R472Q 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ENSG00000164398 tier1 - - 38 0 0.00 16 9 36.00 188 0 0.00 83 38 31.40 MIR146A 0 genome.wustl.edu 37 5 159912453 159912453 + R SNP A A C TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 5 159912453 159912453 A C SNP MIR146A ENST00000385201 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR146A HGNC ENSG00000253522 tier1 - - 50 0 0.00 20 12 37.50 112 0 0.00 56 8 12.50 NEURL 0 genome.wustl.edu 37 10 105349291 105349291 + Missense_Mutation SNP C C T TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 10 105349291 105349291 C T SNP NEURL ENST00000369780 human ensembl 74_37 +1 known missense c.1360 p.R454W 1.000 NULL pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING - no_errors NEURL HGNC ENSG00000107954 tier1 - - 74 0 0.00 70 22 23.66 38 0 0.00 47 17 26.56 ABI3 0 genome.wustl.edu 37 17 47295202 47295202 + Silent SNP C C T TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 17 47295202 47295202 C T SNP ABI3 ENST00000225941 human ensembl 74_37 +1 known silent c.387 p.N129 1.000 pfam_Abl-interactor_HHR_dom pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors ABI3 HGNC ENSG00000108798 tier1 - - 41 0 0.00 19 11 36.67 66 0 0.00 37 25 40.32 CNPPD1 0 genome.wustl.edu 37 2 220041005 220041005 + Missense_Mutation SNP A A C TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 2 220041005 220041005 A C SNP CNPPD1 ENST00000360507 human ensembl 74_37 -1 known missense c.118 p.Y40D 1.000 NULL pfam_Cyclin_PHO80-like,superfamily_Cyclin-like - no_errors CNPPD1 HGNC ENSG00000115649 tier1 - - 46 0 0.00 32 9 21.95 90 0 0.00 60 28 31.82 AIM1 0 genome.wustl.edu 37 6 106967377 106967377 + Missense_Mutation SNP G G C TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 6 106967377 106967377 G C SNP AIM1 ENST00000369066 human ensembl 74_37 +1 known missense c.1070 p.R357T 0.003 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 tier1 - - 16 0 0.00 8 5 38.46 122 0 0.00 54 35 39.33 LAMA2 0 genome.wustl.edu 37 6 129833555 129833555 + Missense_Mutation SNP C C T TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 6 129833555 129833555 C T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.8905 p.R2969C 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SRE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 tier1 - - 114 0 0.00 59 38 39.18 155 0 0.00 75 41 35.34 DH5 0 genome.wustl.edu 37 5 13793644 13793644 + Missense_Mutation SNP G G A TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 5 13793644 13793644 G A SNP DH5 ENST00000265104 human ensembl 74_37 -1 known missense c.8204 p.A2735V 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 DH5 HGNC ENSG00000039139 tier1 - - 62 0 0.00 18 11 37.93 119 0 0.00 54 15 21.74 LAIR1 0 genome.wustl.edu 37 19 54866934 54866934 + Silent SNP T T C TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 19 54866934 54866934 T C SNP LAIR1 ENST00000391742 human ensembl 74_37 -1 known silent c.807 p.P269 0.000 NULL smart_Ig_sub - no_errors LAIR1 HGNC ENSG00000167613 tier1 - - 18 0 0.00 15 10 40.00 97 0 0.00 43 26 37.68 RUVBL2 0 genome.wustl.edu 37 19 49514351 49514351 + Splice_Site SNP G G T TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 19 49514351 49514351 G T SNP RUVBL2 ENST00000595090 human ensembl 74_37 +1 known splice_site c.882+1 e10+1 1.000 - - - no_errors RUVBL2 HGNC ENSG00000183207 tier1 - - 41 0 0.00 36 13 26.53 32 0 0.00 11 9 45.00 OR1F1 0 genome.wustl.edu 37 16 3254752 3254752 + Missense_Mutation SNP G G C TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 16 3254752 3254752 G C SNP OR1F1 ENST00000304646 human ensembl 74_37 +1 known missense c.506 p.C169S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1F1 HGNC ENSG00000168124 tier1 - - 30 0 0.00 11 6 35.29 55 0 0.00 24 13 34.21 MYL6 0 genome.wustl.edu 37 12 56553915 56553915 + Missense_Mutation SNP A A G TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 12 56553915 56553915 A G SNP MYL6 ENST00000547649 human ensembl 74_37 +1 known missense c.332 p.H111R 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL6 HGNC ENSG00000092841 tier1 - - 71 0 0.00 8 6 42.86 77 0 0.00 36 15 29.41 PDGFRB 0 genome.wustl.edu 37 5 149501616 149501616 + R SNP G G A TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 5 149501616 149501616 G A SNP PDGFRB ENST00000519575 human ensembl 74_37 -1 known rna NULL NULL 0.078 - - - no_errors PDGFRB HGNC ENSG00000113721 tier1 - - 30 0 0.00 19 5 20.83 51 0 0.00 28 12 29.27 ITIH5 0 genome.wustl.edu 37 10 7657968 7657968 + Missense_Mutation SNP T T C TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 10 7657968 7657968 T C SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.916 p.M306V 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 tier1 - - 95 0 0.00 22 25 53.19 159 0 0.00 48 40 45.45 HIST1H2AC 0 genome.wustl.edu 37 6 26124497 26124497 + Missense_Mutation SNP G G A TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 6 26124497 26124497 G A SNP HIST1H2AC ENST00000314088 human ensembl 74_37 +1 known missense c.37 p.A13T 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AC HGNC ENSG00000180573 tier1 - - 61 0 0.00 38 20 34.48 61 0 0.00 34 23 40.35 C4orf22 0 genome.wustl.edu 37 4 81791167 81791167 + Missense_Mutation SNP C C G TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 4 81791167 81791167 C G SNP C4orf22 ENST00000508675 human ensembl 74_37 +1 known missense c.405 p.D135E 0.999 NULL NULL - no_errors C4orf22 HGNC ENSG00000197826 tier1 - - 62 0 0.00 18 15 45.45 123 0 0.00 68 20 22.73 COPB2 0 genome.wustl.edu 37 3 139085946 139085946 + Missense_Mutation SNP C C G TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 3 139085946 139085946 C G SNP COPB2 ENST00000333188 human ensembl 74_37 -1 known missense c.1587 p.W529C 1.000 pirsf_COPB2,pfam_Coatomer_WD-assoc_reg pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 tier1 - - 122 0 0.00 80 25 23.81 152 0 0.00 113 23 16.79 BMS1P17 0 genome.wustl.edu 37 14 19670720 19670720 + R SNP A A T TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 14 19670720 19670720 A T SNP BMS1P17 ENST00000550512 human ensembl 74_37 -1 known rna NULL NULL 0.051 - - - no_errors BMS1P17 HGNC ENSG00000228294 tier1 - - 19 0 0.00 9 6 40.00 45 0 0.00 26 16 38.10 AHCTF1 0 genome.wustl.edu 37 1 247063653 247063653 + Missense_Mutation SNP C C A TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 1 247063653 247063653 C A SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.1263 p.M421I 1.000 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 tier1 - - 102 0 0.00 16 27 62.79 102 0 0.00 16 31 65.96 ZNF90 0 genome.wustl.edu 37 19 20229235 20229235 + Missense_Mutation SNP G G A TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 19 20229235 20229235 G A SNP ZNF90 ENST00000418063 human ensembl 74_37 +1 known missense c.872 p.G291D 0.989 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,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF90 HGNC ENSG00000213988 tier1 - - 65 0 0.00 33 20 37.74 17 0 0.00 11 7 38.89 WDR63 0 genome.wustl.edu 37 1 85555896 85555896 + Missense_Mutation SNP C C T TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 1 85555896 85555896 C T SNP WDR63 ENST00000294664 human ensembl 74_37 +1 known missense c.838 p.L280F 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 tier1 - - 99 0 0.00 58 20 25.64 77 0 0.00 34 22 39.29 LAMTOR1 0 genome.wustl.edu 37 11 71809346 71809346 + Missense_Mutation SNP C C T TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 11 71809346 71809346 C T SNP LAMTOR1 ENST00000278671 human ensembl 74_37 -1 known missense c.382 p.D128N 1.000 NULL NULL - no_errors LAMTOR1 HGNC ENSG00000149357 tier1 - - 36 0 0.00 16 9 36.00 29 0 0.00 25 5 16.67 PDE1C 0 genome.wustl.edu 37 7 31864525 31864525 + Silent SNP G G A TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 7 31864525 31864525 G A SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known silent c.1362 p.I454 0.834 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 tier1 - - 56 0 0.00 15 19 55.88 124 0 0.00 28 29 50.88 MYH11 0 genome.wustl.edu 37 16 15832545 15832545 + Missense_Mutation SNP C C G TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 16 15832545 15832545 C G SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.3019 p.E1007Q 1.000 superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SRE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 tier1 - - 88 0 0.00 47 22 31.88 117 0 0.00 79 24 23.08 AIM1 0 genome.wustl.edu 37 6 106968274 106968274 + Missense_Mutation SNP G G A TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 6 106968274 106968274 G A SNP AIM1 ENST00000369066 human ensembl 74_37 +1 known missense c.1967 p.G656E 0.001 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 tier1 - - 21 0 0.00 19 8 29.63 97 0 0.00 61 28 31.11 CSPG5 0 genome.wustl.edu 37 3 47610660 47610660 + Silent SNP G G A TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 3 47610660 47610660 G A SNP CSPG5 ENST00000383738 human ensembl 74_37 -1 known silent c.1440 p.A480 0.959 pfam_Neural_ProG_Cyt pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 tier1 - - 90 0 0.00 13 31 70.45 122 0 0.00 34 33 49.25 PCDHA7 0 genome.wustl.edu 37 5 140214124 140214124 + Silent SNP G G A TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 5 140214124 140214124 G A SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known silent c.156 p.L52 0.998 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 tier1 - - 100 0 0.00 48 21 30.43 41 0 0.00 14 15 51.72 CDH4 0 genome.wustl.edu 37 20 60511837 60511837 + Missense_Mutation SNP G G T TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 20 60511837 60511837 G T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.2587 p.D863Y 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 tier1 - - 39 0 0.00 15 11 42.31 45 0 0.00 22 17 43.59 MUC21 0 genome.wustl.edu 37 6 30954828 30954828 + Silent SNP A A C TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 6 30954828 30954828 A C SNP MUC21 ENST00000376296 human ensembl 74_37 +1 known silent c.876 p.T292 0.000 NULL NULL - no_errors MUC21 HGNC ENSG00000204544 tier1 - - 63 0 0.00 24 13 35.14 26 0 0.00 12 9 42.86 ALPL 0 genome.wustl.edu 37 1 21903986 21903986 + Missense_Mutation SNP G G C TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 1 21903986 21903986 G C SNP ALPL ENST00000374832 human ensembl 74_37 +1 known missense c.1420 p.V474L 1.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPL HGNC ENSG00000162551 tier1 - - 65 0 0.00 31 19 38.00 20 0 0.00 11 10 45.45 PIGB 0 genome.wustl.edu 37 15 55647016 55647016 + Missense_Mutation SNP C C T TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 15 55647016 55647016 C T SNP PIGB ENST00000164305 human ensembl 74_37 +1 known missense c.1358 p.P453L 0.930 NULL pfam_GPI_mannosylTrfase - no_errors PIGB HGNC ENSG00000069943 tier1 - - 37 0 0.00 21 16 43.24 116 0 0.00 42 23 35.38 ALDH9A1 0 genome.wustl.edu 37 1 165649861 165649861 + Nonsense_Mutation SNP C C A TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 1 165649861 165649861 C A SNP ALDH9A1 ENST00000354775 human ensembl 74_37 -1 known nonsense c.652 p.E218* 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH9A1 HGNC ENSG00000143149 tier1 - - 74 0 0.00 59 22 27.16 156 0 0.00 184 28 13.15 USP44 0 genome.wustl.edu 37 12 95927128 95927128 + Frame_Shift_Del DEL A A - TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 12 95927128 95927128 A - DEL USP44 ENST00000258499 human ensembl 74_37 -1 known frame_shift_del c.905 p.L302fs 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP44 HGNC ENSG00000136014 tier1 36 0 0.00 23 6 20.69 121 0 0.00 51 10 16.39 BMS1 0 genome.wustl.edu 37 10 43285807 43285807 + Missense_Mutation SNP A A G TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 10 43285807 43285807 A G SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known missense c.484 p.M162V 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 tier1 - - 349 0 0.00 178 81 31.27 26 0 0.00 9 6 40.00 DYRK4 0 genome.wustl.edu 37 12 4705324 4705324 + Missense_Mutation SNP G G A TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 12 4705324 4705324 G A SNP DYRK4 ENST00000010132 human ensembl 74_37 +1 known missense c.292 p.D98N 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_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_dom - no_errors DYRK4 HGNC ENSG00000010219 tier1 - - 45 0 0.00 11 5 31.25 103 0 0.00 9 20 68.97 SOGA2 0 genome.wustl.edu 37 18 8831766 8831766 + Silent SNP C C T TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 18 8831766 8831766 C T SNP SOGA2 ENST00000306285 human ensembl 74_37 +1 known silent c.2859 p.G953 0.000 NULL NULL - no_errors SOGA2 HGNC ENSG00000168502 tier1 - - 32 0 0.00 19 6 24.00 10 0 0.00 5 4 44.44 IFT46 0 genome.wustl.edu 37 11 118427683 118427685 + In_Frame_Del DEL ATC ATC - TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 ATC ATC ATC - ATC ATC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 11 118427683 118427685 ATC - DEL IFT46 ENST00000264020 human ensembl 74_37 -1 known in_frame_del c.276_274 p.D92in_frame_del 1.000:1.000:0.999 NULL pfam_Intraflagellar_transp_cmplxB - no_errors IFT46 HGNC ENSG00000118096 tier1 47 0 0.00 30 3 9.09 90 0 0.00 87 6 6.45 EBPL 0 genome.wustl.edu 37 13 50237243 50237243 + Silent SNP C C A TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 13 50237243 50237243 C A SNP EBPL ENST00000242827 human ensembl 74_37 -1 known silent c.330 p.G110 0.036 pfam_EBP pfam_EBP - no_errors EBPL HGNC ENSG00000123179 tier1 - - 79 0 0.00 16 3 15.79 17 0 0.00 7 0 0.00 ENSG00000221244 0 genome.wustl.edu 37 5 1004310 1004311 + R INS - - GGGTGTGTGT TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 5 1004310 1004311 - GGGTGTGTGT INS ENSG00000221244 ENST00000408317 human ensembl 74_37 +1 novel rna NULL NULL 0.034:0.057 - - - no_errors AC116351.2 Clone_based_ensembl_gene ENSG00000221244 tier1 16 0 0.00 3 0 0.00 16 0 0.00 3 0 0.00 ENSG00000251226 0 genome.wustl.edu 37 11 134605777 134605777 + R SNP C C G TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 11 134605777 134605777 C G SNP ENSG00000251226 ENST00000513405 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-469N6.1 Clone_based_vega_gene ENSG00000251226 tier1 rs7104522 - 13 0 0.00 9 11 55.00 0 0 0.00 0 0 0.00 KRT1 0 genome.wustl.edu 37 12 53069193 53069193 + Silent SNP G G A TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 12 53069193 53069193 G A SNP KRT1 ENST00000252244 human ensembl 74_37 -1 known silent c.1719 p.G573 0.811 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 tier1 - - 43 0 0.00 24 12 33.33 1 0 0.00 0 0 0.00 KRTAP9-9 0 genome.wustl.edu 37 17 39411670 39411670 + Silent SNP T T C TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 17 39411670 39411670 T C SNP KRTAP9-9 ENST00000394008 human ensembl 74_37 +1 known silent c.33 p.P11 0.053 NULL NULL - no_errors KRTAP9-9 HGNC ENSG00000198083 tier1 - - 37 0 0.00 30 4 11.76 0 0 0.00 0 0 0.00 SENP3 0 genome.wustl.edu 37 17 7475163 7475198 + Splice_Site DEL ATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATAT - TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 ATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 17 7475163 7475198 ATATATATATATATATATATATATATATATATATAT - DEL SENP3 ENST00000429205 human ensembl 74_37 +1 known splice_site_del c.1725+27_62 e12-1 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.995:0.988:0.984:0.978:0.977:0.973:0.975:0.974:0.977:0.977:0.976:0.974:0.976:0.976:0.974:0.970:0.972:0.972:0.969:0.964:0.963:0.960:0.953:0.941:0.939 - - - no_errors SENP3 HGNC ENSG00000161956 tier1 2 0 0.00 0 0 0.00 2 0 0.00 0 0 0.00 SPEG 0 genome.wustl.edu 37 2 220330668 220330669 + R INS - - GT TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 2 220330668 220330669 - GT INS SPEG ENST00000462545 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.003 - - - no_errors SPEG HGNC ENSG00000072195 tier1 21 0 0.00 13 4 23.53 0 0 0.00 0 0 0.00 WNK2 0 genome.wustl.edu 37 9 96061384 96061384 + Missense_Mutation SNP G G A TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5e3110-5477-450e-b3b3-5d8d696b7657 8f441372-902f-471e-b032-fe958c7ea85f 9 96061384 96061384 G A SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.6067 p.A2023T 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 tier1 rs147749673 - 59 0 0.00 43 15 25.86 4 0 0.00 7 4 36.36