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 DH5 0 genome.wustl.edu 37 5 13769642 13769642 + Nonsense_Mutation SNP C C A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 5 13769642 13769642 C A SNP DH5 ENST00000265104 human ensembl 74_37 -1 known nonsense c.9688 p.E3230* 1.000 NULL 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 - - 83 0 0.00 101 49 32.67 100 0 0.00 114 33 22.45 KIF6 0 genome.wustl.edu 37 6 39353432 39353432 + Missense_Mutation SNP T T A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 6 39353432 39353432 T A SNP KIF6 ENST00000287152 human ensembl 74_37 -1 known missense c.1827 p.E609D 0.602 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 tier1 - - 73 0 0.00 40 28 41.18 106 0 0.00 17 27 61.36 ZNF236 0 genome.wustl.edu 37 18 74592142 74592142 + Missense_Mutation SNP C C G TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 18 74592142 74592142 C G SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.1052 p.S351C 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 tier1 - - 68 0 0.00 183 39 17.57 24 0 0.00 30 7 18.92 RAD21-AS1 0 genome.wustl.edu 37 8 117887056 117887056 + R SNP T T C TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 8 117887056 117887056 T C SNP RAD21-AS1 ENST00000521487 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RAD21-AS1 HGNC ENSG00000253327 tier1 - - 28 0 0.00 68 18 20.93 40 0 0.00 27 24 47.06 SSTR3 0 genome.wustl.edu 37 22 37603800 37603800 + Missense_Mutation SNP G G T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 22 37603800 37603800 G T SNP SSTR3 ENST00000328544 human ensembl 74_37 -1 known missense c.43 p.P15T 0.182 prints_Somatstn_rcpt_3 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt - no_errors SSTR3 HGNC ENSG00000183473 tier1 - - 88 0 0.00 62 28 31.11 78 0 0.00 40 10 20.00 PLEKHO2 0 genome.wustl.edu 37 15 65157999 65157999 + Missense_Mutation SNP G G A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 15 65157999 65157999 G A SNP PLEKHO2 ENST00000323544 human ensembl 74_37 +1 known missense c.1385 p.R462K 0.967 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO2 HGNC ENSG00000241839 tier1 - - 42 0 0.00 43 12 21.82 86 0 0.00 56 10 15.15 SARS 0 genome.wustl.edu 37 1 109766653 109766653 + Missense_Mutation SNP A A G TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 1 109766653 109766653 A G SNP SARS ENST00000369923 human ensembl 74_37 +1 known missense c.190 p.I64V 1.000 pfam_Ser-tR-synth_1_N,superfamily_tR-bd_arm,pirsf_Ser-tR-ligase_type_1,tigrfam_Ser-tR-ligase_type_1 pfam_aa-tR-synt_IIb_cons-dom,pfam_Ser-tR-synth_1_N,superfamily_tR-bd_arm,pirsf_Ser-tR-ligase_type_1,pfscan_aa-tR-synth_II,prints_Ser-tR-ligase_type_1,tigrfam_Ser-tR-ligase_type_1 - no_errors SARS HGNC ENSG00000031698 tier1 - - 54 0 0.00 67 47 40.87 126 0 0.00 95 66 40.99 DH6 0 genome.wustl.edu 37 2 84822877 84822877 + Silent SNP C C A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 2 84822877 84822877 C A SNP DH6 ENST00000237449 human ensembl 74_37 +1 known silent c.2832 p.P944 0.998 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH6 HGNC ENSG00000115423 tier1 - - 15 0 0.00 47 23 32.86 60 0 0.00 190 92 32.62 ZFPM2 0 genome.wustl.edu 37 8 106814477 106814477 + Missense_Mutation SNP T T C TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 8 106814477 106814477 T C SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.2167 p.S723P 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 tier1 - - 13 0 0.00 39 11 22.00 45 0 0.00 46 27 36.99 KNTC1 0 genome.wustl.edu 37 12 123060135 123060135 + Missense_Mutation SNP C C T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 12 123060135 123060135 C T SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known missense c.2428 p.P810S 1.000 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 tier1 rs151068294 GMAF=0.0005 106 0 0.00 131 37 22.02 86 0 0.00 95 23 19.49 TRPM2 0 genome.wustl.edu 37 21 45842168 45842168 + Silent SNP T T C TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 21 45842168 45842168 T C SNP TRPM2 ENST00000397932 human ensembl 74_37 +1 novel silent c.3477 p.L1159 0.003 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 tier1 - - 86 0 0.00 58 10 14.71 43 0 0.00 37 5 11.90 FAM129B 0 genome.wustl.edu 37 9 130279234 130279234 + Missense_Mutation SNP G G C TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 9 130279234 130279234 G C SNP FAM129B ENST00000373312 human ensembl 74_37 -1 known missense c.875 p.S292C 0.114 NULL pfscan_Pleckstrin_homology - no_errors FAM129B HGNC ENSG00000136830 tier1 - - 105 0 0.00 58 16 21.62 41 0 0.00 25 7 21.88 CAC1B 0 genome.wustl.edu 37 9 140943767 140943767 + Missense_Mutation SNP C C T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 9 140943767 140943767 C T SNP CAC1B ENST00000371355 human ensembl 74_37 +1 known missense c.3713 p.S1238L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CAC1B HGNC ENSG00000148408 tier1 - - 223 0 0.00 128 32 19.88 134 0 0.00 69 22 24.18 ANXA10 0 genome.wustl.edu 37 4 169060727 169060727 + Missense_Mutation SNP G G A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 4 169060727 169060727 G A SNP ANXA10 ENST00000359299 human ensembl 74_37 +1 known missense c.191 p.G64D 0.998 pfam_Annexin_repeat,smart_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinX - no_errors ANXA10 HGNC ENSG00000109511 tier1 - - 18 0 0.00 20 22 52.38 59 0 0.00 32 35 52.24 ZNF236 0 genome.wustl.edu 37 18 74589978 74589978 + Missense_Mutation SNP C C T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 18 74589978 74589978 C T SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.848 p.P283L 0.961 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 tier1 - - 28 0 0.00 86 17 16.50 73 0 0.00 123 25 16.89 TMC7 0 genome.wustl.edu 37 16 19049220 19049220 + Missense_Mutation SNP C C T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 16 19049220 19049220 C T SNP TMC7 ENST00000304381 human ensembl 74_37 +1 known missense c.1030 p.R344W 1.000 NULL pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 tier1 - - 75 0 0.00 27 36 57.14 167 0 0.00 50 49 49.49 ABCA8 0 genome.wustl.edu 37 17 66883174 66883174 + Missense_Mutation SNP G G A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 17 66883174 66883174 G A SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known missense c.3413 p.S1138L 0.998 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 tier1 - - 15 0 0.00 45 16 26.23 59 0 0.00 123 33 21.02 FAF2 0 genome.wustl.edu 37 5 175919335 175919335 + Splice_Site SNP T T A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 5 175919335 175919335 T A SNP FAF2 ENST00000261942 human ensembl 74_37 +1 known splice_site c.483+2 e5+2 1.000 - - - no_errors FAF2 HGNC ENSG00000113194 tier1 - - 46 0 0.00 22 40 64.52 124 0 0.00 37 57 60.00 PPP1R14C 0 genome.wustl.edu 37 6 150464569 150464569 + Missense_Mutation SNP C C G TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 6 150464569 150464569 C G SNP PPP1R14C ENST00000361131 human ensembl 74_37 +1 known missense c.241 p.L81V 1.000 pfam_PP1_inhibitor,superfamily_PP1_inhibitor pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14C HGNC ENSG00000198729 tier1 - - 78 0 0.00 100 19 15.97 113 0 0.00 117 36 23.53 EFTUD2 0 genome.wustl.edu 37 17 42929917 42929917 + Nonsense_Mutation SNP G G A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 17 42929917 42929917 G A SNP EFTUD2 ENST00000426333 human ensembl 74_37 -1 known nonsense c.2575 p.Q859* 1.000 pfam_EFG_V,superfamily_EFG_III-V,smart_EFG_V pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 tier1 - - 31 0 0.00 23 17 42.50 151 0 0.00 66 34 34.00 ZFHX3 0 genome.wustl.edu 37 16 72832405 72832405 + Silent SNP C C T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 16 72832405 72832405 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.4176 p.P1392 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 tier1 rs200609704 - 55 0 0.00 17 20 54.05 85 0 0.00 23 18 43.90 GZ 0 genome.wustl.edu 37 22 23438606 23438606 + Splice_Site SNP G G C TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 22 23438606 23438606 G C SNP GZ ENST00000248996 human ensembl 74_37 +1 known splice_site c.723+1 e1+1 1.000 - - - no_errors GZ HGNC ENSG00000128266 tier1 - - 108 0 0.00 75 24 24.24 204 0 0.00 123 29 19.08 AUH 0 genome.wustl.edu 37 9 94058337 94058337 + Silent SNP C C T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 9 94058337 94058337 C T SNP AUH ENST00000375731 human ensembl 74_37 -1 known silent c.621 p.L207 1.000 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam - no_errors AUH HGNC ENSG00000148090 tier1 - - 21 0 0.00 18 15 45.45 79 0 0.00 124 40 24.39 MACF1 0 genome.wustl.edu 37 1 39951193 39951193 + R SNP T T C TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 1 39951193 39951193 T C SNP MACF1 ENST00000496360 human ensembl 74_37 +1 known rna NULL NULL 0.111 - - - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 44 0 0.00 36 10 21.74 120 0 0.00 81 31 27.68 ENSG00000255487 0 genome.wustl.edu 37 8 38133419 38133419 + R SNP G G A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 8 38133419 38133419 G A SNP ENSG00000255487 ENST00000529325 human ensembl 74_37 +1 known rna NULL NULL 0.042 - - - no_errors RP11-513D5.5 Clone_based_vega_gene ENSG00000255487 tier1 - - 19 0 0.00 11 9 45.00 132 1 0.75 62 45 42.06 ZFPM2 0 genome.wustl.edu 37 8 106814478 106814478 + Missense_Mutation SNP C C T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 8 106814478 106814478 C T SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.2168 p.S723F 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 tier1 - - 14 0 0.00 40 12 23.08 44 0 0.00 45 28 38.36 ABCA13 0 genome.wustl.edu 37 7 48467363 48467363 + Missense_Mutation SNP G G A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 7 48467363 48467363 G A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.12460 p.V4154M 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 29 0 0.00 24 13 35.14 53 0 0.00 57 18 24.00 PRB3 0 genome.wustl.edu 37 12 11422603 11422603 + Missense_Mutation SNP T T A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 12 11422603 11422603 T A SNP PRB3 ENST00000381842 human ensembl 74_37 -1 known missense c.1 p.M1L 0.811 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 tier1 - - 26 0 0.00 60 26 30.23 5 0 0.00 11 4 26.67 LOC101927533 0 genome.wustl.edu 37 2 65919069 65919069 + R SNP T T C TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 2 65919069 65919069 T C SNP LOC101927533 ENST00000377977 human ensembl 74_37 +1 known rna NULL NULL 0.034 - - - no_errors AC074391.1 Clone_based_vega_gene ENSG00000204929 tier1 - - 39 0 0.00 91 52 36.36 90 0 0.00 113 78 40.84 NKD2 0 genome.wustl.edu 37 5 1036455 1036455 + Missense_Mutation SNP T T A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 5 1036455 1036455 T A SNP NKD2 ENST00000296849 human ensembl 74_37 +1 known missense c.743 p.L248Q 1.000 NULL pfscan_EF_hand_dom - no_errors NKD2 HGNC ENSG00000145506 tier1 - - 126 0 0.00 74 27 26.73 124 0 0.00 46 27 36.99 CARD14 0 genome.wustl.edu 37 17 78166396 78166396 + Missense_Mutation SNP G G T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 17 78166396 78166396 G T SNP CARD14 ENST00000344227 human ensembl 74_37 +1 known missense c.1334 p.C445F 0.058 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin-like - no_errors CARD14 HGNC ENSG00000141527 tier1 - - 89 0 0.00 66 22 24.72 19 0 0.00 13 7 35.00 DZIP1 0 genome.wustl.edu 37 13 96242638 96242638 + Missense_Mutation SNP C C G TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 13 96242638 96242638 C G SNP DZIP1 ENST00000347108 human ensembl 74_37 -1 known missense c.1738 p.E580Q 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC ENSG00000134874 tier1 - - 67 0 0.00 129 25 16.23 77 0 0.00 118 29 19.73 DYSF 0 genome.wustl.edu 37 2 71825861 71825861 + Missense_Mutation SNP G G A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 2 71825861 71825861 G A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.3781 p.D1261N 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 tier1 - - 37 0 0.00 61 17 21.79 53 0 0.00 36 11 23.40 OR2G6 0 genome.wustl.edu 37 1 248685272 248685272 + Missense_Mutation SNP T T C TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 1 248685272 248685272 T C SNP OR2G6 ENST00000343414 human ensembl 74_37 +1 known missense c.325 p.S109P 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 tier1 - - 13 0 0.00 27 9 25.00 33 0 0.00 62 30 32.61 LRP1B 0 genome.wustl.edu 37 2 141201918 141201918 + Silent SNP C C T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 2 141201918 141201918 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.10275 p.E3425 0.985 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 17 0 0.00 21 19 47.50 48 0 0.00 47 29 38.16 IQGAP1 0 genome.wustl.edu 37 15 90934098 90934098 + Missense_Mutation SNP G G T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 15 90934098 90934098 G T SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.148 p.A50S 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 tier1 - - 64 0 0.00 79 22 21.78 161 0 0.00 99 26 20.80 ARPC2 0 genome.wustl.edu 37 2 219099578 219099578 + Silent SNP A A G TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 2 219099578 219099578 A G SNP ARPC2 ENST00000420201 human ensembl 74_37 +1 known silent c.275 p.*92 0.012 NULL NULL - no_errors ARPC2 HGNC ENSG00000163466 tier1 - - 18 0 0.00 24 6 20.00 120 0 0.00 71 9 11.25 DPYD 0 genome.wustl.edu 37 1 98157281 98157281 + Missense_Mutation SNP C C T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 1 98157281 98157281 C T SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.754 p.G252S 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/D pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_tR_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 tier1 - - 8 0 0.00 42 47 52.81 19 0 0.00 67 61 47.66 TRIB2 0 genome.wustl.edu 37 2 12880858 12880858 + Missense_Mutation SNP G G A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 2 12880858 12880858 G A SNP TRIB2 ENST00000155926 human ensembl 74_37 +1 known missense c.970 p.V324M 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 TRIB2 HGNC ENSG00000071575 tier1 - - 42 0 0.00 26 25 49.02 142 0 0.00 49 25 33.78 TRRAP 0 genome.wustl.edu 37 7 98601869 98601869 + Missense_Mutation SNP A A C TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 7 98601869 98601869 A C SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.10324 p.K3442Q 1.000 superfamily_Kinase-like_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 tier1 - - 67 0 0.00 30 14 31.82 147 0 0.00 66 25 27.47 PDGFD 0 genome.wustl.edu 37 11 103870794 103870794 + Missense_Mutation SNP T T A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 11 103870794 103870794 T A SNP PDGFD ENST00000393158 human ensembl 74_37 -1 known missense c.314 p.E105V 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFD HGNC ENSG00000170962 tier1 - - 34 0 0.00 61 20 24.69 47 0 0.00 102 28 21.54 MST1R 0 genome.wustl.edu 37 3 49936073 49936073 + Missense_Mutation SNP A A T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 3 49936073 49936073 A T SNP MST1R ENST00000296474 human ensembl 74_37 -1 known missense c.1597 p.C533S 1.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Plexin-like_fold,smart_Plexin-like_fold pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 tier1 - - 62 0 0.00 54 7 11.29 67 1 1.47 50 8 13.79 FAM211B 0 genome.wustl.edu 37 22 24988289 24988289 + R SNP T T A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 22 24988289 24988289 T A SNP FAM211B ENST00000464490 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM211B HGNC ENSG00000178026 tier1 - - 98 0 0.00 46 19 29.23 95 0 0.00 47 15 24.19 TTN 0 genome.wustl.edu 37 2 179632770 179632770 + Missense_Mutation SNP T T A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 2 179632770 179632770 T A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.9276 p.K3092N 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 22 0 0.00 27 34 55.74 76 0 0.00 45 38 45.78 PAPPA 0 genome.wustl.edu 37 9 119065139 119065139 + Silent SNP C C T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 9 119065139 119065139 C T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known silent c.3057 p.F1019 1.000 NULL pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 tier1 - - 50 0 0.00 55 14 20.29 89 0 0.00 80 32 28.57 ZNF236 0 genome.wustl.edu 37 18 74589967 74589967 + Silent SNP C C G TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 18 74589967 74589967 C G SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known silent c.837 p.V279 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 tier1 - - 26 0 0.00 84 18 17.65 72 0 0.00 116 23 16.55 ZNF552 0 genome.wustl.edu 37 19 58319790 58319790 + Missense_Mutation SNP G G A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 19 58319790 58319790 G A SNP ZNF552 ENST00000391701 human ensembl 74_37 -1 known missense c.842 p.S281F 0.000 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,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF552 HGNC ENSG00000178935 tier1 - - 96 0 0.00 95 28 22.76 160 0 0.00 80 25 23.81 PHYKPL 0 genome.wustl.edu 37 5 177651522 177651522 + Missense_Mutation SNP T T A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 5 177651522 177651522 T A SNP PHYKPL ENST00000308158 human ensembl 74_37 -1 known missense c.545 p.H182L 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors PHYKPL HGNC ENSG00000175309 tier1 - - 79 0 0.00 31 59 65.56 90 0 0.00 20 35 63.64 ZNF587B 0 genome.wustl.edu 37 19 58352520 58352520 + Missense_Mutation SNP A A T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 19 58352520 58352520 A T SNP ZNF587B ENST00000442832 human ensembl 74_37 +1 known missense c.478 p.R160W 0.026 NULL 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 ZNF587B HGNC ENSG00000269343 tier1 - - 169 0 0.00 142 42 22.83 67 0 0.00 31 23 42.59 SLC28A3 0 genome.wustl.edu 37 9 86909133 86909133 + Silent SNP G G A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 9 86909133 86909133 G A SNP SLC28A3 ENST00000376238 human ensembl 74_37 -1 known silent c.919 p.L307 0.000 pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A3 HGNC ENSG00000197506 tier1 - - 95 0 0.00 64 26 28.57 105 0 0.00 54 26 32.50 TMEM134 0 genome.wustl.edu 37 11 67234816 67234816 + Missense_Mutation SNP G G C TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 11 67234816 67234816 G C SNP TMEM134 ENST00000545682 human ensembl 74_37 -1 known missense c.373 p.L125V 1.000 pfam_DUF872_TM pfam_DUF872_TM - no_errors TMEM134 HGNC ENSG00000172663 tier1 - - 145 0 0.00 48 29 37.66 91 0 0.00 21 19 47.50 SIGLEC17P 0 genome.wustl.edu 37 19 51670884 51670884 + R SNP C C A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 19 51670884 51670884 C A SNP SIGLEC17P ENST00000341811 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC17P HGNC ENSG00000171101 tier1 - - 58 0 0.00 58 12 17.14 115 0 0.00 50 24 32.43 TBC1D2B 0 genome.wustl.edu 37 15 78316558 78316558 + Silent SNP C C T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 15 78316558 78316558 C T SNP TBC1D2B ENST00000300584 human ensembl 74_37 -1 known silent c.1410 p.A470 0.000 superfamily_Prefoldin pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2B HGNC ENSG00000167202 tier1 rs201179221 GMAF=0.0005 91 0 0.00 111 31 21.83 18 0 0.00 20 9 30.00 PCDHA3 0 genome.wustl.edu 37 5 140181783 140181783 + Missense_Mutation SNP G G A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 5 140181783 140181783 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.1001 p.C334Y 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 tier1 - - 43 0 0.00 41 16 28.07 127 1 0.78 105 32 23.36 AQP4 0 genome.wustl.edu 37 18 24436238 24436238 + Silent SNP G G A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 18 24436238 24436238 G A SNP AQP4 ENST00000383168 human ensembl 74_37 -1 known silent c.909 p.D303 0.998 NULL pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors AQP4 HGNC ENSG00000171885 tier1 - - 80 0 0.00 110 23 17.29 99 0 0.00 116 43 27.04 CHD8 0 genome.wustl.edu 37 14 21861844 21861844 + Missense_Mutation SNP G G T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 14 21861844 21861844 G T SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.6110 p.T2037N 0.980 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 tier1 - - 63 0 0.00 96 24 20.00 80 0 0.00 114 18 13.64 FCRL5 0 genome.wustl.edu 37 1 157497702 157497702 + R SNP G G T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 1 157497702 157497702 G T SNP FCRL5 ENST00000497286 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors FCRL5 HGNC ENSG00000143297 tier1 - - 15 0 0.00 30 20 40.00 25 0 0.00 26 11 29.73 FGR 0 genome.wustl.edu 37 1 27943478 27943478 + Missense_Mutation SNP C C A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 1 27943478 27943478 C A SNP FGR ENST00000374003 human ensembl 74_37 -1 known missense c.572 p.R191I 0.997 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FGR HGNC ENSG00000000938 tier1 - - 117 0 0.00 26 23 46.94 128 0 0.00 37 26 41.27 ATF4P4 0 genome.wustl.edu 37 11 113660197 113660197 + R SNP G G A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 11 113660197 113660197 G A SNP ATF4P4 ENST00000393544 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors ATF4P4 HGNC ENSG00000256167 tier1 - - 79 0 0.00 64 55 46.22 9 0 0.00 4 6 60.00 CLEC4G 0 genome.wustl.edu 37 19 7796175 7796175 + Missense_Mutation SNP C C T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 19 7796175 7796175 C T SNP CLEC4G ENST00000328853 human ensembl 74_37 -1 known missense c.197 p.G66D 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4G HGNC ENSG00000182566 tier1 - - 14 0 0.00 9 9 50.00 10 0 0.00 4 2 33.33 KRT27 0 genome.wustl.edu 37 17 38936017 38936017 + Nonsense_Mutation SNP G G A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 17 38936017 38936017 G A SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known nonsense c.781 p.R261* 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 tier1 - - 41 0 0.00 15 22 59.46 16 0 0.00 2 4 66.67 NKTR 0 genome.wustl.edu 37 3 42661510 42661510 + Missense_Mutation SNP A A T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 3 42661510 42661510 A T SNP NKTR ENST00000429888 human ensembl 74_37 +1 known missense c.289 p.N97Y 1.000 pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 tier1 - - 15 0 0.00 6 43 87.76 48 0 0.00 9 98 91.59 RLTPR 0 genome.wustl.edu 37 16 67683005 67683005 + Missense_Mutation SNP G G A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 16 67683005 67683005 G A SNP RLTPR ENST00000334583 human ensembl 74_37 +1 known missense c.1618 p.V540M 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 tier1 - - 62 0 0.00 6 30 83.33 64 0 0.00 0 29 100.00 VPS9D1-AS1 0 genome.wustl.edu 37 16 89784447 89784447 + R SNP T T G TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 16 89784447 89784447 T G SNP VPS9D1-AS1 ENST00000562298 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors VPS9D1-AS1 HGNC ENSG00000261373 tier1 - - 294 0 0.00 25 279 91.78 27 0 0.00 1 7 87.50 ZNF267 0 genome.wustl.edu 37 16 31927666 31927666 + Missense_Mutation SNP A A G TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 16 31927666 31927666 A G SNP ZNF267 ENST00000300870 human ensembl 74_37 +1 known missense c.2096 p.Y699C 0.000 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,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF267 HGNC ENSG00000185947 tier1 - - 10 0 0.00 9 39 81.25 38 0 0.00 6 54 90.00 CCDC146 0 genome.wustl.edu 37 7 76916777 76916777 + Silent SNP G G A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 7 76916777 76916777 G A SNP CCDC146 ENST00000285871 human ensembl 74_37 +1 known silent c.2298 p.K766 1.000 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 tier1 - - 22 0 0.00 17 7 29.17 59 0 0.00 58 4 6.45 ZNF578 0 genome.wustl.edu 37 19 53014787 53014787 + Missense_Mutation SNP A A T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 19 53014787 53014787 A T SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known missense c.1153 p.T385S 0.000 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 ZNF578 HGNC ENSG00000258405 tier1 - - 117 0 0.00 121 32 20.92 91 0 0.00 69 7 9.21 MSX2 0 genome.wustl.edu 37 5 174156457 174156457 + Silent SNP C C A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 5 174156457 174156457 C A SNP MSX2 ENST00000239243 human ensembl 74_37 +1 known silent c.675 p.P225 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MSX2 HGNC ENSG00000120149 tier1 - - 87 0 0.00 85 11 11.46 96 0 0.00 60 4 6.25 KIAA1456 0 genome.wustl.edu 37 8 12848476 12848476 + R SNP A A T TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 8 12848476 12848476 A T SNP KIAA1456 ENST00000528335 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors KIAA1456 HGNC ENSG00000250305 tier1 - - 49 0 0.00 7 40 85.11 107 2 1.83 6 48 88.89 KRTAP5-3 0 genome.wustl.edu 37 11 1629046 1629046 + Silent SNP G G A TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 11 1629046 1629046 G A SNP KRTAP5-3 ENST00000399685 human ensembl 74_37 -1 known silent c.570 p.C190 0.064 NULL NULL - no_errors KRTAP5-3 HGNC ENSG00000196224 tier1 rs12808755 - 185 1 0.54 25 5 16.67 4 0 0.00 0 1 100.00 SERPINH1 0 genome.wustl.edu 37 11 75277570 75277570 + Missense_Mutation SNP C C G TCGA-HB-A43Z-01A-11D-A24N-09 TCGA-HB-A43Z-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 16d33e09-2e21-4da2-8e57-e78ce28c4408 33ac805d-038d-4238-8f33-54634f71015e 11 75277570 75277570 C G SNP SERPINH1 ENST00000358171 human ensembl 74_37 +1 known missense c.176 p.A59G 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINH1 HGNC ENSG00000149257 tier1 - - 60 0 0.00 42 19 31.15 3 0 0.00 1 0 0.00