Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error rsID rsID_ref_var_alleles CAF normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumor_var_reads tumor_vaf normal_ref_reads_val normal_var_reads_val normal_vaf_val tumor_ref_reads_val tumor_var_reads_val tumor_vaf_val XIST 0 genome.wustl.edu 37 X 73071116 73071116 + RNA SNP T T A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d X 73071116 73071116 T A SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0 0 0 0 no_errors 0 0 0 13 0 0 9 16 64 104 0 0.00 42 113 72.90 NKAP 0 genome.wustl.edu 37 X 119077214 119077214 + Missense_Mutation SNP C C G TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d X 119077214 119077214 C G SNP NKAP ENST00000371410 human ensembl 74_37 -1 known missense c.355 p.D119H 1 NULL pfam_DUF926 0 no_errors 0 0 0 44 0 0 39 13 25 60 0 0.00 45 17 27.42 PLEKHN1 0 genome.wustl.edu 37 1 907768 907768 + Silent SNP G G A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 1 907768 907768 G A SNP PLEKHN1 ENST00000379409 human ensembl 74_37 1 known silent c.1122 p.P374 0 NULL smart_Pleckstrin_homology 0 no_errors rs376185569 G->A 0.9996,0.0003994 22 0 0 10 4 28.57 52 0 0.00 22 5 17.86 C1orf127 0 genome.wustl.edu 37 1 11008316 11008316 + Missense_Mutation SNP G G A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 1 11008316 11008316 G A SNP C1orf127 ENST00000377004 human ensembl 74_37 -1 known missense c.1876 p.R626C 0 NULL superfamily_DNA-bd_dom_put 0 no_errors rs370186380 G->A 0 67 0 0 39 11 22 85 0 0.00 42 20 32.26 PAX7 0 genome.wustl.edu 37 1 19071364 19071364 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 1 19071364 19071364 C T SNP PAX7 ENST00000420770 human ensembl 74_37 1 known missense c.1459 p.L487F 1 NULL pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom 0 no_errors 0 0 0 36 0 0 20 6 23.08 161 1 0.61 119 33 21.71 EPHA8 0 genome.wustl.edu 37 1 22919851 22919851 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 1 22919851 22919851 C T SNP EPHA8 ENST00000166244 human ensembl 74_37 1 known missense c.1348 p.R450W 0.987 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom 0 no_errors 0 0 0 70 0 0 52 4 7.14 54 0 0.00 39 2 4.76 SFPQ 0 genome.wustl.edu 37 1 35657000 35657000 + Missense_Mutation SNP T T C TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 1 35657000 35657000 T C SNP SFPQ ENST00000357214 human ensembl 74_37 -1 known missense c.959 p.Y320C 1 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom 0 no_errors 0 0 0 111 0 0 85 35 29.17 301 0 0.00 208 85 28.81 VAV3 0 genome.wustl.edu 37 1 108212015 108212015 + Missense_Mutation SNP C C G TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 1 108212015 108212015 C G SNP VAV3 ENST00000371846 human ensembl 74_37 -1 known missense c.1662 p.K554N 0 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain 0 no_errors 0 0 0 42 0 0 27 9 25 325 0 0.00 220 75 25.34 ECM1 0 genome.wustl.edu 37 1 150484110 150484110 + Missense_Mutation SNP G G C TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 1 150484110 150484110 G C SNP ECM1 ENST00000369049 human ensembl 74_37 1 known missense c.967 p.E323Q 0.021 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like 0 no_errors 0 0 0 51 0 0 24 4 14.29 173 0 0.00 168 25 12.95 FAM78B 0 genome.wustl.edu 37 1 166135246 166135246 + Missense_Mutation SNP G G C TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 1 166135246 166135246 G C SNP FAM78B ENST00000338353 human ensembl 74_37 -1 known missense c.240 p.F80L 1 NULL NULL 0 no_errors 0 0 0 16 0 0 21 4 16 87 0 0.00 67 17 20.00 USH2A 0 genome.wustl.edu 37 1 215916612 215916612 + Silent SNP G G A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 1 215916612 215916612 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.11455 p.L3819 0.476 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N 0 no_errors 0 0 0 80 0 0 56 12 17.65 273 1 0.36 209 43 17.00 HIST3H2A 0 genome.wustl.edu 37 1 228645484 228645484 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 1 228645484 228645484 C T SNP HIST3H2A ENST00000366695 human ensembl 74_37 -1 known missense c.35 p.R12H 1 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A 0 no_errors 0 0 0 25 0 0 19 6 24 89 0 0.00 75 26 25.74 SIPA1L2 0 genome.wustl.edu 37 1 232600795 232600795 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 1 232600795 232600795 C T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.2611 p.E871K 0.997 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom 0 no_errors 0 0 0 22 0 0 32 6 15.79 157 0 0.00 125 44 25.88 SP3 0 genome.wustl.edu 37 2 174820297 174820297 + Missense_Mutation SNP G G A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 2 174820297 174820297 G A SNP SP3 ENST00000310015 human ensembl 74_37 -1 known missense c.943 p.R315W 1 NULL pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2 0 no_errors 0 0 0 48 0 0 19 4 17.39 156 0 0.00 113 47 29.38 TTN 0 genome.wustl.edu 37 2 179498642 179498642 + Missense_Mutation SNP G G C TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 2 179498642 179498642 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.34880 p.T11627S 0.994 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,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 0 no_errors 0 0 0 24 0 0 24 3 11.11 236 0 0.00 151 49 24.50 CHL1 0 genome.wustl.edu 37 3 440069 440069 + Splice_Site SNP G G C TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 3 440069 440069 G C SNP CHL1 ENST00000256509 human ensembl 74_37 1 known splice_site c.3253+1 e23+1 1 0 0 0 no_errors 0 0 0 50 0 0 27 6 18.18 258 0 0.00 170 44 20.56 CLASP2 0 genome.wustl.edu 37 3 33576832 33576832 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 3 33576832 33576832 C T SNP CLASP2 ENST00000399362 human ensembl 74_37 -1 known missense c.3701 p.R1234H 1 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 0 no_errors 0 0 0 48 0 0 25 16 39.02 141 1 0.70 128 33 20.50 DNAH1 0 genome.wustl.edu 37 3 52433570 52433570 + Missense_Mutation SNP G G C TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 3 52433570 52433570 G C SNP DNAH1 ENST00000420323 human ensembl 74_37 1 known missense c.12451 p.E4151Q 0 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase 0 no_errors 0 0 0 54 0 0 43 5 10.42 285 0 0.00 177 28 13.66 ABI3BP 0 genome.wustl.edu 37 3 100569540 100569540 + Missense_Mutation SNP T T G TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 3 100569540 100569540 T G SNP ABI3BP ENST00000284322 human ensembl 74_37 -1 known missense c.1264 p.T422P 1 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 0 no_errors 0 0 0 42 0 0 31 14 31.11 291 0 0.00 240 67 21.75 MED28 0 genome.wustl.edu 37 4 17616306 17616306 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 4 17616306 17616306 C T SNP MED28 ENST00000237380 human ensembl 74_37 1 known missense c.29 p.S10F 0.569 NULL pfam_Mediator_Med28 0 no_errors 0 0 0 69 0 0 71 13 15.48 120 0 0.00 56 14 20.00 TXK 0 genome.wustl.edu 37 4 48114451 48114451 + Missense_Mutation SNP T T A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 4 48114451 48114451 T A SNP TXK ENST00000264316 human ensembl 74_37 -1 known missense c.253 p.I85F 0.995 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,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 0 no_errors 0 0 0 50 0 0 33 18 35.29 234 0 0.00 126 48 27.59 PDCL2 0 genome.wustl.edu 37 4 56428640 56428640 + Nonsense_Mutation SNP T T A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 4 56428640 56428640 T A SNP PDCL2 ENST00000295645 human ensembl 74_37 -1 known nonsense c.502 p.K168* 1 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold 0 no_errors 0 0 0 58 0 0 28 18 39.13 213 1 0.47 189 66 25.88 LPHN3 0 genome.wustl.edu 37 4 62778447 62778447 + Missense_Mutation SNP G G C TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 4 62778447 62778447 G C SNP LPHN3 ENST00000507625 human ensembl 74_37 1 known missense c.2084 p.R695T 1 pfam_DUF3497 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,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like 0 no_errors 0 0 0 68 1 1.45 51 4 7.27 220 1 0.45 177 21 10.50 BANK1 0 genome.wustl.edu 37 4 102751113 102751113 + Silent SNP G G A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 4 102751113 102751113 G A SNP BANK1 ENST00000322953 human ensembl 74_37 1 known silent c.219 p.L73 0.021 NULL superfamily_Ankyrin_rpt-contain_dom 0 no_errors 0 0 0 151 0 0 87 25 22.32 266 0 0.00 217 51 19.03 PCDHB7 0 genome.wustl.edu 37 5 140554630 140554630 + Silent SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 5 140554630 140554630 C T SNP PCDHB7 ENST00000231137 human ensembl 74_37 1 known silent c.2214 p.S738 0.011 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin 0 no_errors 0 0 0 111 1 0.89 76 15 16.3 84 0 0.00 106 10 8.55 MCUR1 0 genome.wustl.edu 37 6 13807194 13807194 + Missense_Mutation SNP G G T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 6 13807194 13807194 G T SNP MCUR1 ENST00000379170 human ensembl 74_37 -1 known missense c.498 p.F166L 0.983 pfam_DUF1640 pfam_DUF1640 0 no_errors 0 0 0 87 0 0 23 11 32.35 123 0 0.00 58 31 34.83 HIST1H2BB 0 genome.wustl.edu 37 6 26043842 26043842 + Missense_Mutation SNP G G A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 6 26043842 26043842 G A SNP HIST1H2BB ENST00000357905 human ensembl 74_37 -1 known missense c.44 p.S15F 0.989 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B 0 no_errors 0 0 0 56 0 0 34 8 19.05 181 0 0.00 68 34 33.01 SGK1 0 genome.wustl.edu 37 6 134491476 134491476 + Missense_Mutation SNP G G A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 6 134491476 134491476 G A SNP SGK1 ENST00000367858 human ensembl 74_37 -1 known missense c.1511 p.A504V 1 pfam_Pkinase_C,smart_AGC-kinase_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom 0 no_errors 0 0 0 81 0 0 37 17 31.48 166 1 0.60 62 40 38.83 MLLT4 0 genome.wustl.edu 37 6 168319553 168319553 + Missense_Mutation SNP G G A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 6 168319553 168319553 G A SNP MLLT4 ENST00000366806 human ensembl 74_37 1 known missense c.2827 p.D943N 1 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc 0 no_errors 0 0 0 33 0 0 13 3 18.75 274 0 0.00 95 17 15.18 USP42 0 genome.wustl.edu 37 7 6189291 6189291 + Silent SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 7 6189291 6189291 C T SNP USP42 ENST00000306177 human ensembl 74_37 1 known silent c.1464 p.S488 0.005 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 0 no_errors 0 0 0 52 0 0 43 16 27.12 256 0 0.00 166 70 29.54 LSMEM1 0 genome.wustl.edu 37 7 112127106 112127106 + Missense_Mutation SNP G G T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 7 112127106 112127106 G T SNP LSMEM1 ENST00000312849 human ensembl 74_37 1 known missense c.256 p.V86F 0.973 NULL NULL 0 no_errors 0 0 0 87 0 0 56 29 33.72 346 0 0.00 188 53 21.81 CHRM2 0 genome.wustl.edu 37 7 136699906 136699906 + Silent SNP T T C TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 7 136699906 136699906 T C SNP CHRM2 ENST00000320658 human ensembl 74_37 1 known silent c.294 p.L98 0.818 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn 0 no_errors 0 0 0 33 0 0 15 5 25 273 0 0.00 187 37 16.37 PTPRN2 0 genome.wustl.edu 37 7 157369457 157369457 + Silent SNP G G A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 7 157369457 157369457 G A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known silent c.2700 p.S900 0.71 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt 0 no_errors 0 0 0 19 0 0 11 3 21.43 92 0 0.00 59 13 18.06 C8orf47 0 genome.wustl.edu 37 8 99101420 99101420 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 8 99101420 99101420 C T SNP C8orf47 ENST00000318528 human ensembl 74_37 1 known missense c.175 p.R59C 0.015 NULL NULL 0 no_errors 0 0 0 61 0 0 41 8 16.33 265 0 0.00 251 81 24.40 SLC45A4 0 genome.wustl.edu 37 8 142222381 142222381 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 8 142222381 142222381 C T SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known missense c.2216 p.R739K 0 NULL superfamily_MFS_dom_general_subst_transpt 0 no_errors 0 0 0 30 0 0 22 11 33.33 53 0 0.00 40 27 40.30 PTPRD 0 genome.wustl.edu 37 9 8528717 8528717 + Missense_Mutation SNP G G A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 9 8528717 8528717 G A SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.415 p.R139C 1 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt 0 no_errors 0 0 0 64 0 0 24 25 51.02 215 0 0.00 98 71 42.01 DAPK1 0 genome.wustl.edu 37 9 90219958 90219958 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 9 90219958 90219958 C T SNP DAPK1 ENST00000469640 human ensembl 74_37 1 known missense c.152 p.S51F 1 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt 0 no_errors 0 0 0 39 1 2.5 28 9 24.32 163 0 0.00 88 30 25.21 GAPVD1 0 genome.wustl.edu 37 9 128083733 128083733 + Missense_Mutation SNP G G A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 9 128083733 128083733 G A SNP GAPVD1 ENST00000394105 human ensembl 74_37 1 known missense c.1624 p.D542N 1 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP 0 no_errors 0 0 0 79 0 0 38 8 17.39 295 0 0.00 194 64 24.81 CUBN 0 genome.wustl.edu 37 10 16957098 16957098 + Silent SNP G G A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 10 16957098 16957098 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.7284 p.V2428 1 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom 0 no_errors 0 0 0 87 0 0 49 12 19.67 94 0 0.00 47 25 34.72 ZNF25 0 genome.wustl.edu 37 10 38241588 38241588 + Missense_Mutation SNP G G A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 10 38241588 38241588 G A SNP ZNF25 ENST00000302609 human ensembl 74_37 -1 known missense c.838 p.H280Y 1 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 0 no_errors 0 0 0 53 0 0 29 9 23.68 124 0 0.00 51 22 30.14 DCLRE1A 0 genome.wustl.edu 37 10 115595039 115595039 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 10 115595039 115595039 C T SNP DCLRE1A ENST00000361384 human ensembl 74_37 -1 known missense c.2995 p.E999K 1 pfam_DRMBL pfam_DRMBL 0 no_errors 0 0 0 103 0 0 78 32 29.09 319 0 0.00 192 60 23.72 PLCB3 0 genome.wustl.edu 37 11 64031214 64031214 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 11 64031214 64031214 C T SNP PLCB3 ENST00000279230 human ensembl 74_37 1 known missense c.2507 p.P836L 1 pirsf_PLC-beta,superfamily_C2_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y 0 no_errors rs142407686 C->T 0 50 1 1.96 21 12 36.36 115 0 0.00 73 25 25.51 CCDC87 0 genome.wustl.edu 37 11 66358915 66358915 + Silent SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 11 66358915 66358915 C T SNP CCDC87 ENST00000333861 human ensembl 74_37 -1 known silent c.1572 p.S524 0 NULL pfam_MAP65_Ase1_PRC1 0 no_errors 0 0 0 52 0 0 46 13 21.67 240 0 0.00 167 51 23.39 RNF169 0 genome.wustl.edu 37 11 74547372 74547372 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 11 74547372 74547372 C T SNP RNF169 ENST00000299563 human ensembl 74_37 1 known missense c.1724 p.S575L 0.186 NULL smart_Znf_RING,pfscan_Znf_RING 0 no_errors 0 0 0 79 0 0 39 14 26.42 289 0 0.00 172 64 27.12 MMP13 0 genome.wustl.edu 37 11 102818738 102818738 + Missense_Mutation SNP C C A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 11 102818738 102818738 C A SNP MMP13 ENST00000340273 human ensembl 74_37 -1 novel missense c.1093 p.G365C 1 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A 0 no_errors 0 0 0 93 0 0 30 13 30.23 271 0 0.00 168 72 30.00 SLC2A14 0 genome.wustl.edu 37 12 7982501 7982501 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 12 7982501 7982501 C T SNP SLC2A14 ENST00000396589 human ensembl 74_37 -1 known missense c.443 p.R148H 0.996 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt 0 no_errors 0 0 0 40 0 0 34 13 27.66 106 1 0.93 44 7 13.73 C12orf10 0 genome.wustl.edu 37 12 53700782 53700782 + Missense_Mutation SNP G G A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 12 53700782 53700782 G A SNP C12orf10 ENST00000549488 human ensembl 74_37 1 putative missense c.491 p.R164Q 1 pfam_Met-dep_prot_hydro pfam_Met-dep_prot_hydro 0 no_errors 0 0 0 24 0 0 16 14 46.67 92 1 1.08 85 49 36.30 USP30 0 genome.wustl.edu 37 12 109509448 109509448 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 12 109509448 109509448 C T SNP USP30 ENST00000257548 human ensembl 74_37 1 known missense c.512 p.S171L 0.997 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 0 no_errors 0 0 0 47 0 0 51 15 22.73 209 0 0.00 197 40 16.81 HECTD4 0 genome.wustl.edu 37 12 112704761 112704761 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 12 112704761 112704761 C T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.1801 p.G601S 1 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT 0 no_errors 0 0 0 112 0 0 87 30 25.42 298 0 0.00 297 81 21.43 CLIP1 0 genome.wustl.edu 37 12 122763584 122763584 + Silent SNP C C G TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 12 122763584 122763584 C G SNP CLIP1 ENST00000540338 human ensembl 74_37 -1 known silent c.3756 p.L1252 1 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain 0 no_errors 0 0 0 61 0 0 49 11 18.33 220 0 0.00 251 55 17.97 STARD13 0 genome.wustl.edu 37 13 33685017 33685017 + Missense_Mutation SNP G G C TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 13 33685017 33685017 G C SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.2635 p.R879G 0.362 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom 0 no_errors 0 0 0 65 0 0 45 6 11.76 163 0 0.00 92 45 32.61 NAA16 0 genome.wustl.edu 37 13 41885703 41885703 + Silent SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 13 41885703 41885703 C T SNP NAA16 ENST00000379406 human ensembl 74_37 1 known silent c.39 p.L13 1 pirsf_NatA_aux_su pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom 0 no_errors 0 0 0 29 0 0 10 3 23.08 57 0 0.00 60 17 22.08 COL4A1 0 genome.wustl.edu 37 13 110830441 110830441 + Missense_Mutation SNP G G T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 13 110830441 110830441 G T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.2596 p.Q866K 1 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC 0 no_errors 0 0 0 43 0 0 38 14 26.92 228 1 0.44 164 45 21.53 MYH7 0 genome.wustl.edu 37 14 23902825 23902825 + Silent SNP C C A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 14 23902825 23902825 C A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known silent c.117 p.V39 1 pfam_Myosin_N,superfamily_P-loop_NTPase pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom 0 no_errors 0 0 0 36 0 0 13 4 23.53 161 0 0.00 121 29 19.33 POLE2 0 genome.wustl.edu 37 14 50120764 50120764 + Silent SNP G G A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 14 50120764 50120764 G A SNP POLE2 ENST00000216367 human ensembl 74_37 -1 known silent c.1155 p.I385 1 pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_e_bsu pfam_DNA_pol_alpha/epsilon_bsu,pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu 0 no_errors 0 0 0 173 0 0 123 31 20.13 322 0 0.00 198 58 22.57 KLC1 0 genome.wustl.edu 37 14 104135927 104135927 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 14 104135927 104135927 C T SNP KLC1 ENST00000334553 human ensembl 74_37 1 known missense c.877 p.H293Y 1 pfscan_TPR-contain_dom,prints_Kinesin_light pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light 0 no_errors 0 0 0 65 0 0 54 8 12.9 254 0 0.00 190 54 22.13 AHNAK2 0 genome.wustl.edu 37 14 105413036 105413036 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 14 105413036 105413036 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.8752 p.V2918I 0.017 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ 0 no_errors rs77077255 C->T 0 63 0 0 40 12 23.08 32 0 0.00 23 17 42.50 HERC2P3 0 genome.wustl.edu 37 15 20644361 20644361 + RNA SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 15 20644361 20644361 C T SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 1 0 0 0 no_errors 0 0 0 35 0 0 48 9 15.79 8 0 0.00 7 2 22.22 SEC14L5 0 genome.wustl.edu 37 16 5057391 5057391 + Silent SNP C C G TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 16 5057391 5057391 C G SNP SEC14L5 ENST00000251170 human ensembl 74_37 1 known silent c.1476 p.L492 1 superfamily_CRAL-TRIO_dom pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran 0 no_errors 0 0 0 38 0 0 13 12 46.15 106 0 0.00 62 27 30.34 DNAH3 0 genome.wustl.edu 37 16 21136549 21136549 + Missense_Mutation SNP C C G TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 16 21136549 21136549 C G SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.1351 p.E451Q 0.994 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase 0 no_errors 0 0 0 64 0 0 38 14 26.92 228 0 0.00 166 43 20.28 GTF3C1 0 genome.wustl.edu 37 16 27556751 27556751 + Missense_Mutation SNP C C G TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 16 27556751 27556751 C G SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.315 p.E105D 1 NULL pfam_TFIIIC_Bblock-bd 0 no_errors 0 0 0 41 0 0 28 11 28.21 296 0 0.00 186 69 27.06 MAZ 0 genome.wustl.edu 37 16 29821498 29821498 + Missense_Mutation SNP G G A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 16 29821498 29821498 G A SNP MAZ ENST00000563402 human ensembl 74_37 1 novel missense c.349 p.G117R 0.853 NULL NULL 0 no_errors rs11559001 G->A 0 18 0 0 5 4 44.44 35 0 0.00 29 13 30.95 CYLD 0 genome.wustl.edu 37 16 50820834 50820834 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 16 50820834 50820834 C T SNP CYLD ENST00000311559 human ensembl 74_37 1 known missense c.2018 p.S673L 1 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67 0 no_errors 0 0 0 91 0 0 21 13 38.24 260 1 0.38 157 74 32.03 PLCG2 0 genome.wustl.edu 37 16 81965142 81965142 + Silent SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 16 81965142 81965142 C T SNP PLCG2 ENST00000359376 human ensembl 74_37 1 known silent c.2622 p.F874 0.603 superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain 0 no_errors 0 0 0 64 0 0 17 6 26.09 241 0 0.00 61 40 39.60 MYH1 0 genome.wustl.edu 37 17 10411812 10411812 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 17 10411812 10411812 C T SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.1765 p.V589M 1 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom 0 no_errors 0 0 0 65 0 0 45 23 33.82 81 0 0.00 50 13 20.31 MYO15A 0 genome.wustl.edu 37 17 18036682 18036682 + Silent SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 17 18036682 18036682 C T SNP MYO15A ENST00000205890 human ensembl 74_37 1 known silent c.4464 p.V1488 1 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom 0 no_errors 0 0 0 25 0 0 17 8 32 127 0 0.00 94 19 16.81 CYB561 0 genome.wustl.edu 37 17 61511941 61511941 + Missense_Mutation SNP G G A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 17 61511941 61511941 G A SNP CYB561 ENST00000360793 human ensembl 74_37 -1 known missense c.578 p.A193V 0 pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM 0 no_errors 0 0 0 54 0 0 27 12 30.77 117 0 0.00 59 24 28.92 RNF213 0 genome.wustl.edu 37 17 78318573 78318573 + Silent SNP G G C TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 17 78318573 78318573 G C SNP RNF213 ENST00000582970 human ensembl 74_37 1 known silent c.6438 p.L2146 0 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING 0 no_errors 0 0 0 50 0 0 33 13 28.26 193 0 0.00 107 31 22.46 FZR1 0 genome.wustl.edu 37 19 3532524 3532524 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 19 3532524 3532524 C T SNP FZR1 ENST00000395095 human ensembl 74_37 1 known missense c.1118 p.S373L 0.993 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom 0 no_errors 0 0 0 32 0 0 12 9 42.86 40 0 0.00 26 8 23.53 PIAS4 0 genome.wustl.edu 37 19 4028760 4028760 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 19 4028760 4028760 C T SNP PIAS4 ENST00000262971 human ensembl 74_37 1 known missense c.715 p.P239S 1 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom 0 no_errors 0 0 0 45 0 0 21 14 40 118 0 0.00 92 33 26.40 FBN3 0 genome.wustl.edu 37 19 8191232 8191232 + Splice_Site SNP C C G TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 19 8191232 8191232 C G SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known splice_site c.2555-1 e20-1 1 0 0 0 no_errors 0 0 0 96 0 0 51 7 12.07 81 0 0.00 44 14 24.14 C3P1 0 genome.wustl.edu 37 19 10169262 10169262 + RNA SNP G G A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 19 10169262 10169262 G A SNP C3P1 ENST00000495140 human ensembl 74_37 1 known rna NULL NULL 0.618 0 0 0 no_errors rs369148845 G->A 0.9998,0.0001997 40 1 2.44 39 4 9.3 171 1 0.58 111 34 23.45 WDR62 0 genome.wustl.edu 37 19 36558337 36558337 + Missense_Mutation SNP G G A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 19 36558337 36558337 G A SNP WDR62 ENST00000401500 human ensembl 74_37 1 known missense c.691 p.E231K 0.726 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom 0 no_errors 0 0 0 21 0 0 17 6 26.09 230 0 0.00 136 41 23.16 NLRP12 0 genome.wustl.edu 37 19 54314512 54314512 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 19 54314512 54314512 C T SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.401 p.R134H 0.983 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN 0 no_errors 0 0 0 62 0 0 42 10 19.23 243 0 0.00 137 30 17.96 BMP2 0 genome.wustl.edu 37 20 6758985 6758985 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 20 6758985 6758985 C T SNP BMP2 ENST00000378827 human ensembl 74_37 1 known missense c.440 p.S147L 1 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu 0 no_errors 0 0 0 183 0 0 109 31 22.14 296 0 0.00 259 73 21.99 TEX33 0 genome.wustl.edu 37 22 37397917 37397917 + Missense_Mutation SNP A A T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 22 37397917 37397917 A T SNP TEX33 ENST00000381821 human ensembl 74_37 -1 known missense c.450 p.F150L 0.991 NULL NULL 0 no_errors 0 0 0 38 0 0 20 13 38.24 152 1 0.65 109 27 19.85 CACNA1I 0 genome.wustl.edu 37 22 40075830 40075830 + Missense_Mutation SNP C C T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 22 40075830 40075830 C T SNP CACNA1I ENST00000336649 human ensembl 74_37 1 known missense c.5516 p.S1839F 1 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 0 no_errors 0 0 0 59 0 0 29 7 19.44 156 0 0.00 80 21 20.79 KIAA1841 0 genome.wustl.edu 37 2 61315638 61315639 + RNA INS - - TA TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 - - - TA - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 2 61315638 61315639 0 TA INS KIAA1841 ENST00000482513 human ensembl 74_37 1 known rna NULL NULL 0.001:0.001 0 0 0 no_errors rs371063167 G->GTA 0 55 1 1.79 35 5 12.5 62 1 1.59 94 5 5.05 IRF1 0 genome.wustl.edu 37 5 131822507 131822508 + Frame_Shift_Ins INS - - A TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 5 131822507 131822508 0 A INS IRF1 ENST00000245414 human ensembl 74_37 -1 known frame_shift_ins c.394_393 p.K131fs 0.963:0.727 pirsf_Interferon_reg_fac-1/2 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom 0 no_errors 0 0 0 20 0 0 9 5 35.71 211 0 0.00 120 58 32.58 TNFAIP3 0 genome.wustl.edu 37 6 138192383 138192386 + Frame_Shift_Del DEL CCTC CCTC - TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 CCTC CCTC CCTC - CCTC CCTC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 6 138192383 138192386 CCTC 0 DEL TNFAIP3 ENST00000237289 human ensembl 74_37 1 known frame_shift_del c.19_22 p.P7fs 1.000:1.000:0.996:1.000 NULL pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 0 no_errors 0 0 0 24 0 0 16 7 30.43 161 0 0.00 96 27 21.95 GPR180 0 genome.wustl.edu 37 13 95271505 95271505 + Frame_Shift_Del DEL C C - TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 13 95271505 95271505 C 0 DEL GPR180 ENST00000376958 human ensembl 74_37 1 known frame_shift_del c.607 p.H203fs 1 pfam_Intimal_thickness-rel_rcpt,pfam_TM_rcpt_euk pfam_Intimal_thickness-rel_rcpt,pfam_TM_rcpt_euk 0 no_errors 0 0 0 62 0 0 23 13 36.11 274 0 0.00 150 49 24.62 SYNE2 0 genome.wustl.edu 37 14 64679552 64679552 + Frame_Shift_Del DEL A A - TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 14 64679552 64679552 A 0 DEL SYNE2 ENST00000358025 human ensembl 74_37 1 known frame_shift_del c.18885 p.N6296fs 0.999 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH 0 no_errors 0 0 0 62 0 0 26 11 29.73 231 0 0.00 163 51 23.83 ENSG00000221810 0 genome.wustl.edu 37 5 92053146 92053147 + RNA DEL TG TG - TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 5 92053146 92053147 TG 0 DEL ENSG00000221810 ENST00000408883 human ensembl 74_37 -1 novel rna NULL NULL 0.002:0.000 0 0 0 no_errors 0 0 0 39 0 0 28 3 9.68 0 0 0.00 0 0 0.00 UBE2B 0 genome.wustl.edu 37 5 133707247 133707248 + RNA INS - - T TCGA-ZC-AAA7-01A-11D-A428-09 TCGA-ZC-AAA7-10A-01D-A42B-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffff19c4-ab2a-46f5-b3c0-70ba3d596b83 7d8aa72e-fa4e-4918-8af6-d7a12d3e601d 5 133707247 133707248 0 T INS UBE2B ENST00000511807 human ensembl 74_37 1 known rna NULL NULL 1.000:1.000 0 0 0 no_errors 0 0 0 34 1 2.86 22 2 8.33 0 0 0.00 3 0 0.00